Incidental Mutation 'R0403:Ncor2'
| ID |
35687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncor2
|
| Ensembl Gene |
ENSMUSG00000029478 |
| Gene Name |
nuclear receptor co-repressor 2 |
| Synonyms |
SMRT, SMRTe |
| MMRRC Submission |
038608-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0403 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
125017153-125179219 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125033337 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 868
(S868P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055256]
[ENSMUST00000086083]
[ENSMUST00000111393]
[ENSMUST00000111394]
[ENSMUST00000111398]
[ENSMUST00000111402]
[ENSMUST00000134404]
|
| AlphaFold |
Q9WU42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055256
AA Change: S1421P
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000055954
Gene: ENSMUSG00000029478
AA Change: S1421P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
154 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
207 |
N/A |
INTRINSIC |
|
SANT
|
428 |
476 |
4.42e-6 |
SMART |
|
coiled coil region
|
494 |
550 |
N/A |
INTRINSIC |
|
SANT
|
607 |
655 |
1.43e-14 |
SMART |
|
low complexity region
|
668 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1000 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1027 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1116 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1380 |
N/A |
INTRINSIC |
|
low complexity region
|
1481 |
1497 |
N/A |
INTRINSIC |
|
low complexity region
|
1616 |
1622 |
N/A |
INTRINSIC |
|
low complexity region
|
1709 |
1726 |
N/A |
INTRINSIC |
|
low complexity region
|
1737 |
1754 |
N/A |
INTRINSIC |
|
low complexity region
|
1764 |
1776 |
N/A |
INTRINSIC |
|
low complexity region
|
1800 |
1807 |
N/A |
INTRINSIC |
|
low complexity region
|
1921 |
1939 |
N/A |
INTRINSIC |
|
low complexity region
|
1959 |
1975 |
N/A |
INTRINSIC |
|
low complexity region
|
2062 |
2076 |
N/A |
INTRINSIC |
|
PDB:2GPV|I
|
2293 |
2314 |
8e-8 |
PDB |
|
low complexity region
|
2324 |
2336 |
N/A |
INTRINSIC |
|
low complexity region
|
2433 |
2453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086083
AA Change: S1419P
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000083250
Gene: ENSMUSG00000029478
AA Change: S1419P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
154 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
207 |
N/A |
INTRINSIC |
|
SANT
|
428 |
476 |
4.42e-6 |
SMART |
|
coiled coil region
|
494 |
550 |
N/A |
INTRINSIC |
|
SANT
|
607 |
655 |
1.43e-14 |
SMART |
|
low complexity region
|
668 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1095 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1115 |
N/A |
INTRINSIC |
|
low complexity region
|
1364 |
1378 |
N/A |
INTRINSIC |
|
low complexity region
|
1479 |
1495 |
N/A |
INTRINSIC |
|
low complexity region
|
1614 |
1620 |
N/A |
INTRINSIC |
|
low complexity region
|
1707 |
1724 |
N/A |
INTRINSIC |
|
low complexity region
|
1735 |
1752 |
N/A |
INTRINSIC |
|
low complexity region
|
1762 |
1774 |
N/A |
INTRINSIC |
|
low complexity region
|
1798 |
1805 |
N/A |
INTRINSIC |
|
low complexity region
|
1916 |
1934 |
N/A |
INTRINSIC |
|
low complexity region
|
1954 |
1970 |
N/A |
INTRINSIC |
|
low complexity region
|
2057 |
2071 |
N/A |
INTRINSIC |
|
PDB:2GPV|I
|
2288 |
2309 |
8e-8 |
PDB |
|
low complexity region
|
2319 |
2331 |
N/A |
INTRINSIC |
|
low complexity region
|
2428 |
2448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111393
AA Change: S1280P
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107024
Gene: ENSMUSG00000029478
AA Change: S1280P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
32 |
N/A |
INTRINSIC |
|
SANT
|
253 |
301 |
4.42e-6 |
SMART |
|
coiled coil region
|
319 |
375 |
N/A |
INTRINSIC |
|
SANT
|
432 |
480 |
1.43e-14 |
SMART |
|
low complexity region
|
493 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
851 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1225 |
1239 |
N/A |
INTRINSIC |
|
low complexity region
|
1340 |
1356 |
N/A |
INTRINSIC |
|
low complexity region
|
1475 |
1481 |
N/A |
INTRINSIC |
|
low complexity region
|
1568 |
1585 |
N/A |
INTRINSIC |
|
low complexity region
|
1596 |
1613 |
N/A |
INTRINSIC |
|
low complexity region
|
1623 |
1635 |
N/A |
INTRINSIC |
|
low complexity region
|
1659 |
1666 |
N/A |
INTRINSIC |
|
low complexity region
|
1780 |
1798 |
N/A |
INTRINSIC |
|
low complexity region
|
1818 |
1834 |
N/A |
INTRINSIC |
|
low complexity region
|
1921 |
1935 |
N/A |
INTRINSIC |
|
PDB:2GPV|I
|
2152 |
2173 |
7e-8 |
PDB |
|
low complexity region
|
2183 |
2195 |
N/A |
INTRINSIC |
|
low complexity region
|
2292 |
2312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111394
AA Change: S1201P
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107025
Gene: ENSMUSG00000029478
AA Change: S1201P
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
209 |
257 |
4.42e-6 |
SMART |
|
coiled coil region
|
275 |
331 |
N/A |
INTRINSIC |
|
SANT
|
388 |
436 |
1.43e-14 |
SMART |
|
low complexity region
|
449 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
648 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
769 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
807 |
823 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
876 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
1146 |
1160 |
N/A |
INTRINSIC |
|
low complexity region
|
1261 |
1277 |
N/A |
INTRINSIC |
|
low complexity region
|
1396 |
1402 |
N/A |
INTRINSIC |
|
low complexity region
|
1489 |
1506 |
N/A |
INTRINSIC |
|
low complexity region
|
1517 |
1534 |
N/A |
INTRINSIC |
|
low complexity region
|
1544 |
1556 |
N/A |
INTRINSIC |
|
low complexity region
|
1580 |
1587 |
N/A |
INTRINSIC |
|
low complexity region
|
1701 |
1719 |
N/A |
INTRINSIC |
|
low complexity region
|
1739 |
1755 |
N/A |
INTRINSIC |
|
low complexity region
|
1842 |
1856 |
N/A |
INTRINSIC |
|
PDB:2GPV|I
|
2073 |
2094 |
7e-8 |
PDB |
|
low complexity region
|
2104 |
2116 |
N/A |
INTRINSIC |
|
low complexity region
|
2213 |
2233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111398
AA Change: S1420P
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107029
Gene: ENSMUSG00000029478
AA Change: S1420P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
154 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
207 |
N/A |
INTRINSIC |
|
SANT
|
428 |
476 |
4.42e-6 |
SMART |
|
coiled coil region
|
494 |
550 |
N/A |
INTRINSIC |
|
SANT
|
607 |
655 |
1.43e-14 |
SMART |
|
low complexity region
|
668 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1095 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1115 |
N/A |
INTRINSIC |
|
low complexity region
|
1365 |
1379 |
N/A |
INTRINSIC |
|
low complexity region
|
1480 |
1496 |
N/A |
INTRINSIC |
|
low complexity region
|
1615 |
1621 |
N/A |
INTRINSIC |
|
low complexity region
|
1708 |
1725 |
N/A |
INTRINSIC |
|
low complexity region
|
1736 |
1753 |
N/A |
INTRINSIC |
|
low complexity region
|
1763 |
1775 |
N/A |
INTRINSIC |
|
low complexity region
|
1799 |
1806 |
N/A |
INTRINSIC |
|
low complexity region
|
1920 |
1938 |
N/A |
INTRINSIC |
|
low complexity region
|
1958 |
1974 |
N/A |
INTRINSIC |
|
low complexity region
|
2061 |
2075 |
N/A |
INTRINSIC |
|
PDB:2GPV|I
|
2292 |
2313 |
8e-8 |
PDB |
|
low complexity region
|
2323 |
2335 |
N/A |
INTRINSIC |
|
low complexity region
|
2432 |
2452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111402
AA Change: S1455P
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107033
Gene: ENSMUSG00000029478
AA Change: S1455P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPS2_interact
|
141 |
229 |
4.9e-41 |
PFAM |
|
SANT
|
428 |
476 |
4.42e-6 |
SMART |
|
coiled coil region
|
494 |
550 |
N/A |
INTRINSIC |
|
SANT
|
607 |
655 |
1.43e-14 |
SMART |
|
low complexity region
|
668 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1095 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1115 |
N/A |
INTRINSIC |
|
low complexity region
|
1400 |
1414 |
N/A |
INTRINSIC |
|
low complexity region
|
1515 |
1531 |
N/A |
INTRINSIC |
|
low complexity region
|
1650 |
1656 |
N/A |
INTRINSIC |
|
low complexity region
|
1743 |
1760 |
N/A |
INTRINSIC |
|
low complexity region
|
1771 |
1788 |
N/A |
INTRINSIC |
|
low complexity region
|
1798 |
1810 |
N/A |
INTRINSIC |
|
low complexity region
|
1834 |
1841 |
N/A |
INTRINSIC |
|
low complexity region
|
1955 |
1973 |
N/A |
INTRINSIC |
|
low complexity region
|
1993 |
2009 |
N/A |
INTRINSIC |
|
low complexity region
|
2096 |
2110 |
N/A |
INTRINSIC |
|
PDB:2GPV|I
|
2327 |
2348 |
8e-8 |
PDB |
|
low complexity region
|
2358 |
2370 |
N/A |
INTRINSIC |
|
low complexity region
|
2467 |
2487 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125053
AA Change: S502P
|
| SMART Domains |
Protein: ENSMUSP00000117098
Gene: ENSMUSG00000029478
AA Change: S502P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
858 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
889 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1155 |
N/A |
INTRINSIC |
|
PDB:2GPV|I
|
1372 |
1393 |
5e-8 |
PDB |
|
low complexity region
|
1403 |
1415 |
N/A |
INTRINSIC |
|
low complexity region
|
1512 |
1532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134404
AA Change: S868P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121588
Gene: ENSMUSG00000029478
AA Change: S868P
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
2 |
49 |
1.94e-2 |
SMART |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
944 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1130 |
| Coding Region Coverage |
- 1x: 98.0%
- 3x: 96.8%
- 10x: 93.2%
- 20x: 83.7%
|
| Validation Efficiency |
97% (110/113) |
| MGI Phenotype |
Strain: 3765904; 4329504
Lethality: E1-E16
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(145) : Targeted(2) Gene trapped(143)
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,973,880 (GRCm38) |
|
probably null |
Het |
| Adgrg3 |
C |
T |
8: 95,036,922 (GRCm38) |
L284F |
probably benign |
Het |
| Alkbh8 |
T |
A |
9: 3,385,469 (GRCm38) |
V587E |
probably damaging |
Het |
| Ap4b1 |
T |
A |
3: 103,818,839 (GRCm38) |
C244S |
probably damaging |
Het |
| Ap4b1 |
T |
A |
3: 103,821,396 (GRCm38) |
M590K |
probably benign |
Het |
| Arhgap15 |
C |
T |
2: 44,063,766 (GRCm38) |
T168I |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,540,310 (GRCm38) |
V997A |
probably damaging |
Het |
| Atrn |
G |
A |
2: 130,906,859 (GRCm38) |
C100Y |
probably damaging |
Het |
| Baiap2l2 |
C |
A |
15: 79,271,216 (GRCm38) |
A151S |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,969,377 (GRCm38) |
D199E |
possibly damaging |
Het |
| Bmal2 |
T |
A |
6: 146,822,655 (GRCm38) |
H348Q |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,152,626 (GRCm38) |
D440G |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,473,500 (GRCm38) |
V694A |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,992,349 (GRCm38) |
R2065W |
probably damaging |
Het |
| Ces2b |
G |
T |
8: 104,833,945 (GRCm38) |
A131S |
probably damaging |
Het |
| Chrna9 |
A |
T |
5: 65,967,892 (GRCm38) |
T59S |
possibly damaging |
Het |
| Cog3 |
T |
A |
14: 75,742,327 (GRCm38) |
|
probably benign |
Het |
| Cpa1 |
G |
A |
6: 30,641,857 (GRCm38) |
V227I |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,998,513 (GRCm38) |
C98S |
probably damaging |
Het |
| D8Ertd738e |
C |
T |
8: 84,249,601 (GRCm38) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 61,994,541 (GRCm38) |
|
probably benign |
Het |
| Dhx16 |
T |
C |
17: 35,883,050 (GRCm38) |
|
probably null |
Het |
| Dnah9 |
T |
A |
11: 66,084,789 (GRCm38) |
Q1478L |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,524,070 (GRCm38) |
Y1434C |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,804,436 (GRCm38) |
D325V |
probably damaging |
Het |
| Entpd6 |
C |
A |
2: 150,760,170 (GRCm38) |
T194K |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,270,349 (GRCm38) |
V3185E |
probably benign |
Het |
| Flrt1 |
A |
G |
19: 7,095,919 (GRCm38) |
L421P |
probably benign |
Het |
| Fmn2 |
A |
T |
1: 174,694,278 (GRCm38) |
Q1292L |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,775,588 (GRCm38) |
|
probably null |
Het |
| Fndc1 |
T |
C |
17: 7,753,723 (GRCm38) |
D1459G |
probably damaging |
Het |
| Fzr1 |
A |
G |
10: 81,369,368 (GRCm38) |
S265P |
possibly damaging |
Het |
| Gpr142 |
G |
A |
11: 114,806,029 (GRCm38) |
V134M |
probably damaging |
Het |
| Grid2ip |
G |
T |
5: 143,357,620 (GRCm38) |
V24L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 56,159,417 (GRCm38) |
R2555H |
probably damaging |
Het |
| Hpdl |
A |
T |
4: 116,820,479 (GRCm38) |
Y262N |
possibly damaging |
Het |
| Htr3a |
A |
G |
9: 48,908,659 (GRCm38) |
V57A |
probably damaging |
Het |
| Igfbp7 |
T |
C |
5: 77,355,591 (GRCm38) |
I186V |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,467,326 (GRCm38) |
|
probably null |
Het |
| Itgae |
A |
C |
11: 73,123,183 (GRCm38) |
D736A |
possibly damaging |
Het |
| Itpkc |
T |
A |
7: 27,208,345 (GRCm38) |
M645L |
probably benign |
Het |
| Jchain |
T |
C |
5: 88,521,378 (GRCm38) |
R139G |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,791,401 (GRCm38) |
V908A |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,181,967 (GRCm38) |
K389* |
probably null |
Het |
| Klhl12 |
T |
C |
1: 134,485,856 (GRCm38) |
Y360H |
possibly damaging |
Het |
| Knop1 |
G |
A |
7: 118,853,053 (GRCm38) |
R148W |
probably damaging |
Het |
| Lpar1 |
T |
A |
4: 58,487,191 (GRCm38) |
N27Y |
probably damaging |
Het |
| Lpar2 |
T |
A |
8: 69,824,152 (GRCm38) |
V197D |
probably damaging |
Het |
| Lrrc74a |
A |
G |
12: 86,740,979 (GRCm38) |
N128S |
probably damaging |
Het |
| Lum |
G |
T |
10: 97,572,043 (GRCm38) |
V337F |
probably benign |
Het |
| Mag |
T |
C |
7: 30,906,980 (GRCm38) |
D344G |
probably damaging |
Het |
| Maip1 |
G |
A |
1: 57,407,196 (GRCm38) |
A142T |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,268,968 (GRCm38) |
V148A |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,767,103 (GRCm38) |
V1195A |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,106,855 (GRCm38) |
E907G |
probably damaging |
Het |
| Nfam1 |
G |
A |
15: 83,016,379 (GRCm38) |
T134I |
probably benign |
Het |
| Nr0b2 |
T |
C |
4: 133,553,759 (GRCm38) |
V112A |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 128,457,969 (GRCm38) |
N365S |
probably damaging |
Het |
| Nrsn2 |
T |
C |
2: 152,369,790 (GRCm38) |
Y107C |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 109,934,611 (GRCm38) |
A282V |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,765,028 (GRCm38) |
I337T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,076,540 (GRCm38) |
G479D |
probably damaging |
Het |
| Oprd1 |
T |
A |
4: 132,113,768 (GRCm38) |
D293V |
probably benign |
Het |
| Or13a17 |
T |
C |
7: 140,691,309 (GRCm38) |
S135P |
possibly damaging |
Het |
| P3h2 |
T |
G |
16: 25,969,950 (GRCm38) |
N586H |
possibly damaging |
Het |
| Pcid2 |
T |
C |
8: 13,085,367 (GRCm38) |
Y214C |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 109,623,649 (GRCm38) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 109,623,663 (GRCm38) |
S380N |
probably benign |
Het |
| Ppic |
C |
A |
18: 53,411,071 (GRCm38) |
G81W |
probably damaging |
Het |
| Ppp2r1a |
C |
A |
17: 20,957,041 (GRCm38) |
P246T |
probably damaging |
Het |
| Ppp4r4 |
T |
G |
12: 103,584,102 (GRCm38) |
S46A |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,362,646 (GRCm38) |
N178S |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,168,653 (GRCm38) |
T21A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 98,994,645 (GRCm38) |
E210G |
possibly damaging |
Het |
| Prss35 |
A |
G |
9: 86,756,037 (GRCm38) |
M287V |
probably damaging |
Het |
| Psd |
G |
A |
19: 46,320,972 (GRCm38) |
|
probably benign |
Het |
| Ptch2 |
A |
T |
4: 117,110,839 (GRCm38) |
K843* |
probably null |
Het |
| Rab44 |
C |
A |
17: 29,145,261 (GRCm38) |
T603K |
probably damaging |
Het |
| Rasal3 |
T |
A |
17: 32,392,790 (GRCm38) |
|
probably null |
Het |
| Rbbp6 |
A |
G |
7: 122,992,296 (GRCm38) |
T526A |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 52,143,438 (GRCm38) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,999,534 (GRCm38) |
S685P |
probably damaging |
Het |
| Sec24b |
T |
A |
3: 129,989,676 (GRCm38) |
L1104F |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,290,045 (GRCm38) |
|
probably null |
Het |
| Setmar |
A |
T |
6: 108,075,962 (GRCm38) |
H139L |
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,521,854 (GRCm38) |
L364S |
probably damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,766,808 (GRCm38) |
V710A |
probably benign |
Het |
| Smarcc1 |
T |
A |
9: 110,237,808 (GRCm38) |
|
probably null |
Het |
| Smchd1 |
G |
A |
17: 71,394,902 (GRCm38) |
L1032F |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,430,784 (GRCm38) |
|
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,582,052 (GRCm38) |
Y816* |
probably null |
Het |
| Tcea1 |
C |
G |
1: 4,889,503 (GRCm38) |
R134G |
probably benign |
Het |
| Tchhl1 |
C |
T |
3: 93,471,029 (GRCm38) |
Q347* |
probably null |
Het |
| Tecrl |
A |
T |
5: 83,354,758 (GRCm38) |
|
probably benign |
Het |
| Tepsin |
T |
C |
11: 120,093,682 (GRCm38) |
|
probably benign |
Het |
| Tmem40 |
G |
A |
6: 115,733,985 (GRCm38) |
|
probably benign |
Het |
| Tpr |
G |
A |
1: 150,407,414 (GRCm38) |
|
probably benign |
Het |
| Ttll12 |
A |
T |
15: 83,580,658 (GRCm38) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,909,608 (GRCm38) |
D3529V |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,333,838 (GRCm38) |
H177Q |
possibly damaging |
Het |
| Vsig10 |
T |
A |
5: 117,338,461 (GRCm38) |
S327T |
probably benign |
Het |
| Zbtb4 |
T |
A |
11: 69,777,639 (GRCm38) |
M396K |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,225,009 (GRCm38) |
T462I |
possibly damaging |
Het |
| Zfp385b |
T |
C |
2: 77,476,845 (GRCm38) |
M145V |
probably damaging |
Het |
| Zfp780b |
C |
A |
7: 27,971,689 (GRCm38) |
V65F |
possibly damaging |
Het |
|
| Other mutations in Ncor2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Ncor2
|
APN |
5 |
125,042,743 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00519:Ncor2
|
APN |
5 |
125,084,924 (GRCm38) |
missense |
unknown |
|
|
IGL00900:Ncor2
|
APN |
5 |
125,025,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00950:Ncor2
|
APN |
5 |
125,086,890 (GRCm38) |
missense |
unknown |
|
|
IGL01320:Ncor2
|
APN |
5 |
125,109,927 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01382:Ncor2
|
APN |
5 |
125,055,773 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01573:Ncor2
|
APN |
5 |
125,085,026 (GRCm38) |
missense |
unknown |
|
|
IGL01721:Ncor2
|
APN |
5 |
125,050,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01875:Ncor2
|
APN |
5 |
125,065,870 (GRCm38) |
missense |
unknown |
|
|
IGL02090:Ncor2
|
APN |
5 |
125,034,403 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02192:Ncor2
|
APN |
5 |
125,024,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02396:Ncor2
|
APN |
5 |
125,037,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02934:Ncor2
|
APN |
5 |
125,025,557 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL02997:Ncor2
|
APN |
5 |
125,119,570 (GRCm38) |
intron |
probably benign |
|
|
R0019:Ncor2
|
UTSW |
5 |
125,119,481 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0331:Ncor2
|
UTSW |
5 |
125,084,917 (GRCm38) |
missense |
unknown |
|
|
R0333:Ncor2
|
UTSW |
5 |
125,034,344 (GRCm38) |
splice site |
probably benign |
|
|
R0557:Ncor2
|
UTSW |
5 |
125,106,305 (GRCm38) |
nonsense |
probably null |
|
|
R0562:Ncor2
|
UTSW |
5 |
125,085,029 (GRCm38) |
missense |
unknown |
|
|
R0671:Ncor2
|
UTSW |
5 |
125,049,387 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0699:Ncor2
|
UTSW |
5 |
125,029,112 (GRCm38) |
unclassified |
probably benign |
|
|
R0865:Ncor2
|
UTSW |
5 |
125,038,982 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1183:Ncor2
|
UTSW |
5 |
125,023,521 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1325:Ncor2
|
UTSW |
5 |
125,118,780 (GRCm38) |
intron |
probably benign |
|
|
R1344:Ncor2
|
UTSW |
5 |
125,025,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1433:Ncor2
|
UTSW |
5 |
125,109,975 (GRCm38) |
intron |
probably benign |
|
|
R1481:Ncor2
|
UTSW |
5 |
125,027,138 (GRCm38) |
nonsense |
probably null |
|
|
R1539:Ncor2
|
UTSW |
5 |
125,109,939 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1558:Ncor2
|
UTSW |
5 |
125,033,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1585:Ncor2
|
UTSW |
5 |
125,084,998 (GRCm38) |
missense |
unknown |
|
|
R1611:Ncor2
|
UTSW |
5 |
125,110,020 (GRCm38) |
intron |
probably benign |
|
|
R1764:Ncor2
|
UTSW |
5 |
125,028,615 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1789:Ncor2
|
UTSW |
5 |
125,019,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1809:Ncor2
|
UTSW |
5 |
125,118,793 (GRCm38) |
intron |
probably benign |
|
|
R1901:Ncor2
|
UTSW |
5 |
125,025,425 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1946:Ncor2
|
UTSW |
5 |
125,034,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1970:Ncor2
|
UTSW |
5 |
125,038,918 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2048:Ncor2
|
UTSW |
5 |
125,084,932 (GRCm38) |
missense |
unknown |
|
|
R2137:Ncor2
|
UTSW |
5 |
125,030,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2270:Ncor2
|
UTSW |
5 |
125,037,955 (GRCm38) |
missense |
probably benign |
0.33 |
|
R2380:Ncor2
|
UTSW |
5 |
125,036,080 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2570:Ncor2
|
UTSW |
5 |
125,028,800 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2918:Ncor2
|
UTSW |
5 |
125,025,760 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2921:Ncor2
|
UTSW |
5 |
125,055,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2922:Ncor2
|
UTSW |
5 |
125,055,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2923:Ncor2
|
UTSW |
5 |
125,055,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3116:Ncor2
|
UTSW |
5 |
125,024,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3768:Ncor2
|
UTSW |
5 |
125,028,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3826:Ncor2
|
UTSW |
5 |
125,118,692 (GRCm38) |
intron |
probably benign |
|
|
R3829:Ncor2
|
UTSW |
5 |
125,118,692 (GRCm38) |
intron |
probably benign |
|
|
R3830:Ncor2
|
UTSW |
5 |
125,118,692 (GRCm38) |
intron |
probably benign |
|
|
R3951:Ncor2
|
UTSW |
5 |
125,032,256 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4175:Ncor2
|
UTSW |
5 |
125,050,956 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4360:Ncor2
|
UTSW |
5 |
125,028,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4470:Ncor2
|
UTSW |
5 |
125,102,641 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4490:Ncor2
|
UTSW |
5 |
125,036,815 (GRCm38) |
splice site |
probably null |
|
|
R4573:Ncor2
|
UTSW |
5 |
125,055,825 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4611:Ncor2
|
UTSW |
5 |
125,030,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4799:Ncor2
|
UTSW |
5 |
125,037,060 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4851:Ncor2
|
UTSW |
5 |
125,033,367 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4853:Ncor2
|
UTSW |
5 |
125,081,183 (GRCm38) |
missense |
unknown |
|
|
R4853:Ncor2
|
UTSW |
5 |
125,025,105 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4896:Ncor2
|
UTSW |
5 |
125,049,340 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4997:Ncor2
|
UTSW |
5 |
125,034,010 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5057:Ncor2
|
UTSW |
5 |
125,048,066 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5253:Ncor2
|
UTSW |
5 |
125,026,930 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5461:Ncor2
|
UTSW |
5 |
125,027,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5585:Ncor2
|
UTSW |
5 |
125,067,911 (GRCm38) |
nonsense |
probably null |
|
|
R5638:Ncor2
|
UTSW |
5 |
125,048,300 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5879:Ncor2
|
UTSW |
5 |
125,026,775 (GRCm38) |
unclassified |
probably benign |
|
|
R5967:Ncor2
|
UTSW |
5 |
125,068,984 (GRCm38) |
missense |
unknown |
|
|
R5999:Ncor2
|
UTSW |
5 |
125,033,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6020:Ncor2
|
UTSW |
5 |
125,020,011 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6109:Ncor2
|
UTSW |
5 |
125,055,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6423:Ncor2
|
UTSW |
5 |
125,087,902 (GRCm38) |
missense |
unknown |
|
|
R6462:Ncor2
|
UTSW |
5 |
125,024,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6478:Ncor2
|
UTSW |
5 |
125,110,005 (GRCm38) |
intron |
probably benign |
|
|
R7074:Ncor2
|
UTSW |
5 |
125,049,366 (GRCm38) |
nonsense |
probably null |
|
|
R7179:Ncor2
|
UTSW |
5 |
125,055,783 (GRCm38) |
missense |
unknown |
|
|
R7261:Ncor2
|
UTSW |
5 |
125,110,079 (GRCm38) |
splice site |
probably null |
|
|
R7263:Ncor2
|
UTSW |
5 |
125,032,132 (GRCm38) |
missense |
|
|
|
R7273:Ncor2
|
UTSW |
5 |
125,023,623 (GRCm38) |
missense |
|
|
|
R7282:Ncor2
|
UTSW |
5 |
125,020,040 (GRCm38) |
missense |
|
|
|
R7570:Ncor2
|
UTSW |
5 |
125,030,089 (GRCm38) |
missense |
|
|
|
R7725:Ncor2
|
UTSW |
5 |
125,023,566 (GRCm38) |
missense |
|
|
|
R7747:Ncor2
|
UTSW |
5 |
125,027,038 (GRCm38) |
missense |
|
|
|
R7748:Ncor2
|
UTSW |
5 |
125,109,967 (GRCm38) |
missense |
unknown |
|
|
R7825:Ncor2
|
UTSW |
5 |
125,037,077 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8008:Ncor2
|
UTSW |
5 |
125,067,919 (GRCm38) |
missense |
unknown |
|
|
R8126:Ncor2
|
UTSW |
5 |
125,106,204 (GRCm38) |
missense |
unknown |
|
|
R8137:Ncor2
|
UTSW |
5 |
125,037,893 (GRCm38) |
missense |
|
|
|
R8706:Ncor2
|
UTSW |
5 |
125,067,946 (GRCm38) |
missense |
unknown |
|
|
R8751:Ncor2
|
UTSW |
5 |
125,038,900 (GRCm38) |
missense |
|
|
|
R8819:Ncor2
|
UTSW |
5 |
125,029,227 (GRCm38) |
missense |
|
|
|
R8820:Ncor2
|
UTSW |
5 |
125,029,227 (GRCm38) |
missense |
|
|
|
R8824:Ncor2
|
UTSW |
5 |
125,118,757 (GRCm38) |
missense |
|
|
|
R8867:Ncor2
|
UTSW |
5 |
125,102,675 (GRCm38) |
missense |
unknown |
|
|
R8919:Ncor2
|
UTSW |
5 |
125,029,189 (GRCm38) |
missense |
|
|
|
R8922:Ncor2
|
UTSW |
5 |
125,086,875 (GRCm38) |
missense |
unknown |
|
|
R9076:Ncor2
|
UTSW |
5 |
125,034,022 (GRCm38) |
missense |
|
|
|
R9249:Ncor2
|
UTSW |
5 |
125,109,924 (GRCm38) |
missense |
unknown |
|
|
R9276:Ncor2
|
UTSW |
5 |
125,036,086 (GRCm38) |
missense |
|
|
|
R9362:Ncor2
|
UTSW |
5 |
125,018,201 (GRCm38) |
missense |
|
|
|
R9667:Ncor2
|
UTSW |
5 |
125,048,481 (GRCm38) |
missense |
unknown |
|
|
R9684:Ncor2
|
UTSW |
5 |
125,025,075 (GRCm38) |
missense |
|
|
|
Z1088:Ncor2
|
UTSW |
5 |
125,086,840 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1088:Ncor2
|
UTSW |
5 |
125,067,788 (GRCm38) |
missense |
unknown |
|
|
Z1177:Ncor2
|
UTSW |
5 |
125,036,849 (GRCm38) |
missense |
|
|
|
Z1177:Ncor2
|
UTSW |
5 |
125,047,994 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACACATACATGCAGGTGGAGAC -3'
(R):5'- ATTTGTGCTGACCTAGACCGAGCC -3'
Sequencing Primer
(F):5'- CGTGGGGAGCAGTCAAGTG -3'
(R):5'- AGGCCAAGCTCTTGAAGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation