Incidental Mutation 'R7570:Ncor2'
ID |
585699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncor2
|
Ensembl Gene |
ENSMUSG00000029478 |
Gene Name |
nuclear receptor co-repressor 2 |
Synonyms |
SMRT, SMRTe |
MMRRC Submission |
045631-MU
|
Accession Numbers |
Ncbi RefSeq: NM_011424.3, NM_001253904.1, NM_001253905.1; MGI:1337080
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7570 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
125017153-125179219 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 125030089 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 744
(T744S)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055256]
[ENSMUST00000086083]
[ENSMUST00000111393]
[ENSMUST00000111394]
[ENSMUST00000111398]
[ENSMUST00000111402]
[ENSMUST00000134404]
[ENSMUST00000138890]
|
AlphaFold |
Q9WU42 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055256
AA Change: T1663S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000055954 Gene: ENSMUSG00000029478 AA Change: T1663S
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 damaging
Transcript: ENSMUST00000086083
AA Change: T1661S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083250 Gene: ENSMUSG00000029478 AA Change: T1661S
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 damaging
Transcript: ENSMUST00000111393
AA Change: T1522S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107024 Gene: ENSMUSG00000029478 AA Change: T1522S
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 damaging
Transcript: ENSMUST00000111394
AA Change: T1443S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107025 Gene: ENSMUSG00000029478 AA Change: T1443S
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 damaging
Transcript: ENSMUST00000111398
AA Change: T1662S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107029 Gene: ENSMUSG00000029478 AA Change: T1662S
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 damaging
Transcript: ENSMUST00000111402
AA Change: T1697S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107033 Gene: ENSMUSG00000029478 AA Change: T1697S
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 |
|
SMART Domains |
Protein: ENSMUSP00000117098 Gene: ENSMUSG00000029478 AA Change: T744S
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 |
probably benign
Transcript: ENSMUST00000134404
|
SMART Domains |
Protein: ENSMUSP00000121588 Gene: ENSMUSG00000029478
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134819
|
SMART Domains |
Protein: ENSMUSP00000115776 Gene: ENSMUSG00000029478
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
low complexity region
|
145 |
159 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138890
|
SMART Domains |
Protein: ENSMUSP00000117813 Gene: ENSMUSG00000029478
Domain | Start | End | E-Value | Type |
low complexity region
|
178 |
186 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (104/106) |
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: 106 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
C |
T |
6: 91,934,610 (GRCm38) |
T613I |
probably benign |
Het |
9130019O22Rik |
T |
A |
7: 127,385,283 (GRCm38) |
S216C |
probably benign |
Het |
Ajuba |
T |
C |
14: 54,576,402 (GRCm38) |
E288G |
probably damaging |
Het |
Ankrd12 |
C |
T |
17: 65,985,360 (GRCm38) |
R1026K |
probably benign |
Het |
Apol7b |
T |
C |
15: 77,423,474 (GRCm38) |
T274A |
probably benign |
Het |
Arid4a |
A |
T |
12: 71,063,142 (GRCm38) |
R86* |
probably null |
Het |
Asnsd1 |
C |
T |
1: 53,348,258 (GRCm38) |
G70D |
probably damaging |
Het |
Atg4c |
T |
A |
4: 99,228,560 (GRCm38) |
V313D |
possibly damaging |
Het |
Atp13a5 |
A |
C |
16: 29,266,963 (GRCm38) |
C885G |
probably damaging |
Het |
Bpifb9a |
A |
T |
2: 154,262,263 (GRCm38) |
I209F |
possibly damaging |
Het |
Bsn |
T |
C |
9: 108,113,543 (GRCm38) |
D1670G |
probably damaging |
Het |
Cct8 |
T |
A |
16: 87,491,322 (GRCm38) |
I121F |
probably benign |
Het |
Cd209a |
T |
G |
8: 3,744,151 (GRCm38) |
D217A |
probably damaging |
Het |
Cdk19 |
C |
T |
10: 40,477,958 (GRCm38) |
S456L |
possibly damaging |
Het |
Chd9 |
C |
T |
8: 90,994,580 (GRCm38) |
H999Y |
unknown |
Het |
Col5a1 |
G |
A |
2: 27,951,383 (GRCm38) |
V339M |
unknown |
Het |
Cr2 |
G |
A |
1: 195,169,340 (GRCm38) |
R115* |
probably null |
Het |
Cyb561 |
A |
T |
11: 105,937,644 (GRCm38) |
F62I |
probably damaging |
Het |
Cyp2c38 |
A |
T |
19: 39,404,743 (GRCm38) |
N293K |
possibly damaging |
Het |
Cyp2c69 |
A |
T |
19: 39,859,898 (GRCm38) |
D293E |
probably damaging |
Het |
Dcbld2 |
T |
A |
16: 58,424,569 (GRCm38) |
C69S |
possibly damaging |
Het |
Dcdc2a |
T |
C |
13: 25,119,373 (GRCm38) |
S296P |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 49,893,957 (GRCm38) |
I2044K |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,346,952 (GRCm38) |
D2527G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,149,430 (GRCm38) |
T1305A |
probably benign |
Het |
Dnajc9 |
A |
G |
14: 20,388,644 (GRCm38) |
V47A |
probably benign |
Het |
Dnmt3b |
A |
G |
2: 153,676,699 (GRCm38) |
Y594C |
probably damaging |
Het |
Dph7 |
A |
G |
2: 24,965,630 (GRCm38) |
D147G |
probably damaging |
Het |
Drap1 |
T |
C |
19: 5,423,352 (GRCm38) |
H164R |
possibly damaging |
Het |
Dsg3 |
T |
A |
18: 20,527,780 (GRCm38) |
V392E |
possibly damaging |
Het |
Dxo |
A |
G |
17: 34,837,640 (GRCm38) |
D81G |
probably benign |
Het |
E230025N22Rik |
G |
T |
18: 36,695,592 (GRCm38) |
T11K |
probably benign |
Het |
Esyt1 |
A |
G |
10: 128,518,932 (GRCm38) |
V533A |
possibly damaging |
Het |
Etv3 |
T |
A |
3: 87,536,031 (GRCm38) |
C307* |
probably null |
Het |
Fam114a1 |
T |
A |
5: 65,030,059 (GRCm38) |
|
probably null |
Het |
Fam208b |
A |
G |
13: 3,573,621 (GRCm38) |
Y2110H |
probably damaging |
Het |
Fam3c |
T |
A |
6: 22,326,405 (GRCm38) |
|
probably benign |
Het |
Fbn1 |
G |
T |
2: 125,397,852 (GRCm38) |
T305K |
probably benign |
Het |
Ggt1 |
A |
T |
10: 75,585,594 (GRCm38) |
I484F |
probably damaging |
Het |
Gm10639 |
A |
T |
9: 78,304,469 (GRCm38) |
D171V |
possibly damaging |
Het |
Gpatch1 |
T |
C |
7: 35,293,812 (GRCm38) |
D536G |
probably damaging |
Het |
Gpx4 |
T |
C |
10: 80,055,041 (GRCm38) |
I189T |
probably damaging |
Het |
Gsr |
T |
A |
8: 33,669,165 (GRCm38) |
C85S |
probably damaging |
Het |
Havcr1 |
T |
A |
11: 46,770,542 (GRCm38) |
|
probably null |
Het |
Heatr4 |
T |
C |
12: 83,979,644 (GRCm38) |
T280A |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,423,911 (GRCm38) |
E3532D |
probably benign |
Het |
Hnrnpc |
T |
C |
14: 52,075,099 (GRCm38) |
N308S |
possibly damaging |
Het |
Ighv8-9 |
A |
G |
12: 115,468,738 (GRCm38) |
V13A |
probably benign |
Het |
Itgb2l |
A |
T |
16: 96,426,239 (GRCm38) |
F535I |
probably benign |
Het |
Kdm5a |
T |
G |
6: 120,427,842 (GRCm38) |
D1348E |
probably damaging |
Het |
Kndc1 |
CT |
C |
7: 139,923,775 (GRCm38) |
|
probably null |
Het |
Ky |
A |
G |
9: 102,542,329 (GRCm38) |
I512V |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,243,275 (GRCm38) |
F866Y |
possibly damaging |
Het |
Lbx1 |
C |
A |
19: 45,235,248 (GRCm38) |
|
probably benign |
Het |
Magel2 |
A |
G |
7: 62,378,910 (GRCm38) |
T521A |
possibly damaging |
Het |
Mgam |
A |
T |
6: 40,746,433 (GRCm38) |
I491L |
probably benign |
Het |
Mitd1 |
T |
C |
1: 37,890,192 (GRCm38) |
E40G |
probably damaging |
Het |
Mpzl3 |
A |
G |
9: 45,070,687 (GRCm38) |
T218A |
probably benign |
Het |
Mrpl42 |
A |
G |
10: 95,480,965 (GRCm38) |
S77P |
probably benign |
Het |
Mup5 |
C |
T |
4: 61,834,674 (GRCm38) |
W37* |
probably null |
Het |
Myh14 |
T |
C |
7: 44,632,426 (GRCm38) |
I803V |
probably benign |
Het |
Ndufv3 |
A |
G |
17: 31,527,622 (GRCm38) |
D162G |
probably damaging |
Het |
Nostrin |
A |
G |
2: 69,175,806 (GRCm38) |
E278G |
probably damaging |
Het |
Nrxn1 |
T |
G |
17: 90,162,379 (GRCm38) |
E1288A |
probably benign |
Het |
Olfr1205 |
A |
G |
2: 88,831,128 (GRCm38) |
N4D |
possibly damaging |
Het |
Olfr623 |
C |
A |
7: 103,660,881 (GRCm38) |
R123L |
probably damaging |
Het |
Olfr648 |
T |
A |
7: 104,179,748 (GRCm38) |
Y220F |
probably damaging |
Het |
Olfr972 |
A |
T |
9: 39,873,455 (GRCm38) |
Y60F |
possibly damaging |
Het |
Patj |
T |
A |
4: 98,424,500 (GRCm38) |
|
probably null |
Het |
Pcm1 |
T |
G |
8: 41,267,344 (GRCm38) |
I314R |
possibly damaging |
Het |
Pcsk6 |
A |
G |
7: 66,033,898 (GRCm38) |
T754A |
probably benign |
Het |
Pde2a |
A |
T |
7: 101,502,834 (GRCm38) |
N326I |
probably benign |
Het |
Plekhg4 |
T |
C |
8: 105,378,684 (GRCm38) |
S594P |
possibly damaging |
Het |
Plekhm3 |
T |
C |
1: 64,937,906 (GRCm38) |
D135G |
probably damaging |
Het |
Plin4 |
A |
T |
17: 56,106,776 (GRCm38) |
M283K |
probably benign |
Het |
Ppfia3 |
T |
C |
7: 45,340,748 (GRCm38) |
|
probably null |
Het |
Prdm9 |
T |
C |
17: 15,555,652 (GRCm38) |
N179S |
probably benign |
Het |
Prrt3 |
T |
C |
6: 113,494,488 (GRCm38) |
S908G |
probably damaging |
Het |
Psg22 |
C |
A |
7: 18,722,735 (GRCm38) |
S181Y |
possibly damaging |
Het |
Rcor3 |
C |
A |
1: 192,137,876 (GRCm38) |
G8V |
probably damaging |
Het |
Rp1l1 |
T |
A |
14: 64,031,574 (GRCm38) |
C1536* |
probably null |
Het |
Rpp25l |
T |
C |
4: 41,712,529 (GRCm38) |
H82R |
probably damaging |
Het |
Rps3a1 |
T |
A |
3: 86,139,089 (GRCm38) |
M172L |
probably benign |
Het |
Rtbdn |
T |
C |
8: 84,952,927 (GRCm38) |
L110P |
probably damaging |
Het |
Ryr1 |
T |
A |
7: 29,078,585 (GRCm38) |
Q2169L |
probably damaging |
Het |
Scn4a |
A |
T |
11: 106,320,473 (GRCm38) |
C1573S |
possibly damaging |
Het |
Sec16b |
A |
T |
1: 157,531,395 (GRCm38) |
|
probably null |
Het |
Serpina1a |
A |
T |
12: 103,853,837 (GRCm38) |
D383E |
possibly damaging |
Het |
Sh3gl3 |
T |
C |
7: 82,285,077 (GRCm38) |
M262T |
probably benign |
Het |
Sos2 |
G |
A |
12: 69,590,880 (GRCm38) |
T1052M |
probably damaging |
Het |
Spag16 |
G |
A |
1: 69,996,841 (GRCm38) |
V343I |
probably benign |
Het |
Spocd1 |
T |
G |
4: 129,930,164 (GRCm38) |
D251E |
|
Het |
Stc2 |
G |
T |
11: 31,367,798 (GRCm38) |
N74K |
probably damaging |
Het |
Thbs3 |
C |
T |
3: 89,219,052 (GRCm38) |
Q227* |
probably null |
Het |
Tmem92 |
A |
C |
11: 94,778,990 (GRCm38) |
I105R |
probably benign |
Het |
Tmod1 |
T |
A |
4: 46,083,632 (GRCm38) |
N20K |
probably benign |
Het |
Tns1 |
T |
C |
1: 73,953,479 (GRCm38) |
D53G |
probably damaging |
Het |
Tspan33 |
T |
A |
6: 29,717,338 (GRCm38) |
L246Q |
probably damaging |
Het |
Ttc16 |
A |
G |
2: 32,768,968 (GRCm38) |
L392P |
probably damaging |
Het |
Uggt1 |
T |
A |
1: 36,185,838 (GRCm38) |
T572S |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,860,397 (GRCm38) |
T70S |
probably damaging |
Het |
Usp31 |
C |
T |
7: 121,674,963 (GRCm38) |
R370H |
probably damaging |
Het |
Wdr83 |
C |
T |
8: 85,079,834 (GRCm38) |
V112M |
probably damaging |
Het |
Zbtb25 |
T |
A |
12: 76,369,592 (GRCm38) |
|
probably benign |
Het |
Zfp110 |
T |
A |
7: 12,849,340 (GRCm38) |
N638K |
possibly damaging |
Het |
Zfp820 |
T |
C |
17: 21,819,013 (GRCm38) |
T445A |
probably benign |
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 |
|
R0403:Ncor2
|
UTSW |
5 |
125,033,337 (GRCm38) |
missense |
possibly damaging |
0.73 |
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 |
|
|
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'- TAGTTCACCTGGGCAACTGTG -3'
(R):5'- TAAGACATGGGCCACCTGAC -3'
Sequencing Primer
(F):5'- GGCAACTGTGACCCCTC -3'
(R):5'- GGGCCACCTGACCCTCC -3'
|
Posted On |
2019-10-17 |