Incidental Mutation 'RF023:Cdhr3'
| ID |
604008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr3
|
| Ensembl Gene |
ENSMUSG00000035860 |
| Gene Name |
cadherin-related family member 3 |
| Synonyms |
1110049B09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
RF023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
33083795-33142874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33110348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 312
(S312Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095774]
|
| AlphaFold |
Q8BL00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095774
AA Change: S312Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093449
Gene: ENSMUSG00000035860
AA Change: S312Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
CA
|
36 |
131 |
5.54e-2 |
SMART |
|
CA
|
156 |
234 |
3.73e-10 |
SMART |
|
CA
|
258 |
343 |
5.47e-17 |
SMART |
|
CA
|
369 |
459 |
9.87e-1 |
SMART |
|
CA
|
483 |
564 |
1.17e-16 |
SMART |
|
CA
|
590 |
683 |
1.1e0 |
SMART |
|
transmembrane domain
|
708 |
730 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
96% (24/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,818 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAAACAGAAAGGAAAAGGTGGCCAG |
AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,841 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
| Amot |
GCAACAGCAAC |
GC |
X: 144,233,999 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,256,407 (GRCm39) |
S1172T |
probably damaging |
Het |
| Bltp1 |
T |
TTATTATTATTATTAG |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,245,191 (GRCm39) |
V300I |
probably benign |
Het |
| Calhm1 |
GTGGC |
GTGGCTGTGGCTTTGGC |
19: 47,129,712 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,301 (GRCm39) |
T516A |
probably damaging |
Het |
| Ccdc170 |
CCA |
CCAACA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
| Cdk1 |
C |
T |
10: 69,176,328 (GRCm39) |
G260S |
possibly damaging |
Het |
| Cdsn |
AG |
AGACAGGAAGTAGTAGCTCTCAG |
17: 35,865,876 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,803,620 (GRCm39) |
V88E |
probably benign |
Het |
| Cfap46 |
TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC |
TCTTCTCCTTCTCCTTCTCC |
7: 139,218,834 (GRCm39) |
|
|
Het |
| Dnah11 |
T |
A |
12: 117,918,585 (GRCm39) |
R3449W |
probably damaging |
Het |
| Dnmt1 |
AGTTCCTACCTCGTT |
AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT |
9: 20,821,427 (GRCm39) |
|
probably null |
Het |
| E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CCGCCG |
CCGCCGGCGCCG |
4: 141,602,073 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
| Ephx2 |
A |
G |
14: 66,322,378 (GRCm39) |
|
probably null |
Het |
| Exd2 |
GCAGCAGCCGCAGCCACAGC |
GCAGC |
12: 80,522,689 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCCGTCTC |
X: 71,313,660 (GRCm39) |
|
probably benign |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Herc1 |
G |
C |
9: 66,365,616 (GRCm39) |
G324R |
|
Het |
| Hsdl2 |
CAGCCACAGCTGCAG |
CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG |
4: 59,610,644 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GCTTGAAG |
GCTTGAAGCGGGCCTTGAAG |
3: 37,179,969 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAG |
CAGCCCTAG |
1: 83,019,867 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACAGC |
ACAGCCACGGCCACCGCAGC |
1: 83,020,007 (GRCm39) |
|
probably benign |
Het |
| Krtap4-9 |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,217 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCTGCC |
TGCTGCCCCCGCCGCTGCC |
3: 92,925,587 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TGGTGGTG |
T |
14: 75,185,006 (GRCm39) |
|
probably null |
Het |
| Mgam |
C |
T |
6: 40,657,642 (GRCm39) |
T999I |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,057 (GRCm39) |
E740G |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,525,779 (GRCm39) |
|
probably null |
Het |
| Phactr2 |
T |
A |
10: 13,121,178 (GRCm39) |
Q503H |
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,046,802 (GRCm39) |
Y241C |
probably damaging |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,076 (GRCm39) |
V666G |
possibly damaging |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
CTCTCTCTCT |
CTCTCTCTCTCTCTCTCTGTCTCTCTCT |
10: 84,694,349 (GRCm39) |
|
probably benign |
Het |
| Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,413,723 (GRCm39) |
S240T |
probably damaging |
Het |
| Rtbdn |
GCAGCG |
GCAGCGTCAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
G |
T |
19: 44,524,226 (GRCm39) |
A138D |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,205,482 (GRCm39) |
W3495R |
probably damaging |
Het |
| Tgoln1 |
CC |
CCCGTGGGCTTGCCAGAATTACCTTC |
6: 72,593,063 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,313,728 (GRCm39) |
H48R |
probably benign |
Het |
| Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGATGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
T |
TGCTGCTGCTGCTGCC |
15: 72,673,180 (GRCm39) |
|
probably benign |
Het |
| Vsig2 |
T |
A |
9: 37,450,559 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
T |
C |
13: 49,300,255 (GRCm39) |
T152A |
probably benign |
Het |
|
| Other mutations in Cdhr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Cdhr3
|
APN |
12 |
33,102,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01508:Cdhr3
|
APN |
12 |
33,103,427 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02396:Cdhr3
|
APN |
12 |
33,095,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02414:Cdhr3
|
APN |
12 |
33,092,503 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02450:Cdhr3
|
APN |
12 |
33,132,224 (GRCm39) |
missense |
probably benign |
|
|
IGL02453:Cdhr3
|
APN |
12 |
33,092,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02567:Cdhr3
|
APN |
12 |
33,088,900 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03342:Cdhr3
|
APN |
12 |
33,101,054 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0022:Cdhr3
|
UTSW |
12 |
33,132,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Cdhr3
|
UTSW |
12 |
33,132,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Cdhr3
|
UTSW |
12 |
33,142,751 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0140:Cdhr3
|
UTSW |
12 |
33,130,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0157:Cdhr3
|
UTSW |
12 |
33,111,649 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0762:Cdhr3
|
UTSW |
12 |
33,110,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1421:Cdhr3
|
UTSW |
12 |
33,110,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Cdhr3
|
UTSW |
12 |
33,092,370 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1691:Cdhr3
|
UTSW |
12 |
33,132,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1822:Cdhr3
|
UTSW |
12 |
33,095,204 (GRCm39) |
missense |
probably null |
1.00 |
|
R1855:Cdhr3
|
UTSW |
12 |
33,110,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Cdhr3
|
UTSW |
12 |
33,095,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2496:Cdhr3
|
UTSW |
12 |
33,099,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2507:Cdhr3
|
UTSW |
12 |
33,088,914 (GRCm39) |
missense |
probably benign |
|
|
R3155:Cdhr3
|
UTSW |
12 |
33,099,152 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3906:Cdhr3
|
UTSW |
12 |
33,103,427 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4005:Cdhr3
|
UTSW |
12 |
33,130,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4277:Cdhr3
|
UTSW |
12 |
33,110,232 (GRCm39) |
missense |
probably null |
0.16 |
|
R4573:Cdhr3
|
UTSW |
12 |
33,118,152 (GRCm39) |
splice site |
probably null |
|
|
R4752:Cdhr3
|
UTSW |
12 |
33,136,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5364:Cdhr3
|
UTSW |
12 |
33,101,007 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5562:Cdhr3
|
UTSW |
12 |
33,101,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5564:Cdhr3
|
UTSW |
12 |
33,098,985 (GRCm39) |
nonsense |
probably null |
|
|
R5768:Cdhr3
|
UTSW |
12 |
33,096,685 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6255:Cdhr3
|
UTSW |
12 |
33,103,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Cdhr3
|
UTSW |
12 |
33,085,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6983:Cdhr3
|
UTSW |
12 |
33,092,379 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7155:Cdhr3
|
UTSW |
12 |
33,111,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Cdhr3
|
UTSW |
12 |
33,110,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Cdhr3
|
UTSW |
12 |
33,103,519 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7788:Cdhr3
|
UTSW |
12 |
33,110,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Cdhr3
|
UTSW |
12 |
33,098,931 (GRCm39) |
splice site |
probably null |
|
|
R9226:Cdhr3
|
UTSW |
12 |
33,132,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9592:Cdhr3
|
UTSW |
12 |
33,136,007 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0024:Cdhr3
|
UTSW |
12 |
33,117,235 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0028:Cdhr3
|
UTSW |
12 |
33,092,455 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cdhr3
|
UTSW |
12 |
33,130,323 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Cdhr3
|
UTSW |
12 |
33,110,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTCAAATCGGCTTGTAGAG -3'
(R):5'- ACACGACATGTCTGTAGAGGGG -3'
Sequencing Primer
(F):5'- CTTGTAGAGAGTCAGTCCCCAATG -3'
(R):5'- ACATGTCTGTAGAGGGGCTATTCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation