Incidental Mutation 'R8069:Cdhr2'
| ID |
620191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
Pcdh24, LOC268663 |
| MMRRC Submission |
067504-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8069 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54878883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 963
(I963F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
| AlphaFold |
E9Q7P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: I963F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: I963F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CA
|
48 |
122 |
8.62e-15 |
SMART |
|
CA
|
146 |
239 |
1.4e-2 |
SMART |
|
CA
|
263 |
351 |
2.19e-16 |
SMART |
|
CA
|
391 |
478 |
4.22e-9 |
SMART |
|
CA
|
503 |
584 |
2.15e-24 |
SMART |
|
CA
|
605 |
693 |
6.78e-22 |
SMART |
|
CA
|
715 |
805 |
1.78e-16 |
SMART |
|
CA
|
830 |
925 |
7.57e-11 |
SMART |
|
CA
|
950 |
1042 |
7.1e-2 |
SMART |
|
low complexity region
|
1121 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1153 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1264 |
1277 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
T |
A |
9: 4,296,823 (GRCm39) |
D261V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adad2 |
T |
C |
8: 120,342,746 (GRCm39) |
S431P |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,118,246 (GRCm39) |
Y557H |
possibly damaging |
Het |
| Adam5 |
C |
T |
8: 25,303,541 (GRCm39) |
E129K |
probably damaging |
Het |
| Adgra2 |
T |
C |
8: 27,609,251 (GRCm39) |
V824A |
probably benign |
Het |
| Armc12 |
A |
T |
17: 28,751,410 (GRCm39) |
K135* |
probably null |
Het |
| Aup1 |
C |
T |
6: 83,032,910 (GRCm39) |
Q215* |
probably null |
Het |
| AW146154 |
G |
A |
7: 41,129,935 (GRCm39) |
R394C |
probably benign |
Het |
| Canx |
T |
G |
11: 50,202,531 (GRCm39) |
D25A |
possibly damaging |
Het |
| Ccnf |
A |
G |
17: 24,443,989 (GRCm39) |
L593P |
probably damaging |
Het |
| Cd40 |
A |
T |
2: 164,898,695 (GRCm39) |
I41F |
unknown |
Het |
| Cdh1 |
C |
T |
8: 107,384,405 (GRCm39) |
A291V |
probably benign |
Het |
| Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,233,882 (GRCm39) |
T2305S |
possibly damaging |
Het |
| Cimap1a |
A |
T |
7: 140,430,215 (GRCm39) |
T201S |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,758 (GRCm39) |
R24G |
probably damaging |
Het |
| Cnot7 |
T |
C |
8: 40,960,514 (GRCm39) |
N98S |
possibly damaging |
Het |
| Defa3 |
T |
G |
8: 21,778,288 (GRCm39) |
C91G |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,072,446 (GRCm39) |
F844L |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,302,705 (GRCm39) |
D1733G |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,263,866 (GRCm39) |
W2116* |
probably null |
Het |
| Dnaja3 |
T |
C |
16: 4,502,131 (GRCm39) |
V45A |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,717,615 (GRCm39) |
S11T |
unknown |
Het |
| Enpp2 |
T |
A |
15: 54,710,697 (GRCm39) |
K744N |
probably damaging |
Het |
| Fam171b |
CCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGC |
2: 83,643,218 (GRCm39) |
|
probably benign |
Het |
| Fdxacb1 |
T |
G |
9: 50,680,135 (GRCm39) |
F107C |
probably damaging |
Het |
| Fnbp1 |
A |
T |
2: 30,926,606 (GRCm39) |
Y433N |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,306 (GRCm39) |
Y6* |
probably null |
Het |
| Gm45140 |
T |
C |
6: 87,796,551 (GRCm39) |
H66R |
|
Het |
| Grin3b |
G |
A |
10: 79,812,868 (GRCm39) |
R981Q |
unknown |
Het |
| Ipp |
T |
G |
4: 116,368,053 (GRCm39) |
I95M |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 89,973,466 (GRCm39) |
F769L |
probably damaging |
Het |
| Jkamp |
C |
T |
12: 72,136,832 (GRCm39) |
L67F |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,744,112 (GRCm39) |
M773K |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,823,674 (GRCm39) |
T973A |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,869,039 (GRCm39) |
Y271C |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,159 (GRCm39) |
S178P |
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,732,833 (GRCm39) |
S648* |
probably null |
Het |
| Neurl1b |
G |
T |
17: 26,651,201 (GRCm39) |
V158F |
probably damaging |
Het |
| Nkain2 |
A |
G |
10: 32,766,034 (GRCm39) |
V142A |
unknown |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Oma1 |
A |
T |
4: 103,176,232 (GRCm39) |
|
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,364 (GRCm39) |
N178Y |
possibly damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,411 (GRCm39) |
Y107H |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,009 (GRCm39) |
T784A |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,752,265 (GRCm39) |
I217T |
probably benign |
Het |
| Ptx4 |
T |
C |
17: 25,341,753 (GRCm39) |
F76S |
probably damaging |
Het |
| Rap1b |
A |
C |
10: 117,657,514 (GRCm39) |
I55S |
probably damaging |
Het |
| Sftpd |
T |
C |
14: 40,894,538 (GRCm39) |
T294A |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Srms |
T |
A |
2: 180,848,751 (GRCm39) |
H363L |
probably damaging |
Het |
| Tbc1d13 |
A |
T |
2: 30,037,415 (GRCm39) |
M266L |
probably damaging |
Het |
| Tbc1d2 |
A |
C |
4: 46,649,737 (GRCm39) |
C100G |
possibly damaging |
Het |
| Tdg |
A |
T |
10: 82,474,627 (GRCm39) |
Q39L |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,586,146 (GRCm39) |
A1547V |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,858,718 (GRCm39) |
E380G |
possibly damaging |
Het |
| Unc13b |
T |
G |
4: 43,177,597 (GRCm39) |
D2808E |
unknown |
Het |
| Usp25 |
A |
T |
16: 76,865,943 (GRCm39) |
D287V |
possibly damaging |
Het |
| Zfp648 |
A |
T |
1: 154,079,862 (GRCm39) |
Q7L |
probably benign |
Het |
| Zfp931 |
T |
C |
2: 177,709,709 (GRCm39) |
R226G |
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,542,215 (GRCm39) |
E201D |
probably benign |
Het |
|
| Other mutations in Cdhr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Cdhr2
|
APN |
13 |
54,866,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00596:Cdhr2
|
APN |
13 |
54,868,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00840:Cdhr2
|
APN |
13 |
54,867,965 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00956:Cdhr2
|
APN |
13 |
54,866,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01101:Cdhr2
|
APN |
13 |
54,865,948 (GRCm39) |
splice site |
probably benign |
|
|
IGL01150:Cdhr2
|
APN |
13 |
54,878,931 (GRCm39) |
missense |
probably benign |
|
|
IGL01412:Cdhr2
|
APN |
13 |
54,873,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01515:Cdhr2
|
APN |
13 |
54,866,051 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02005:Cdhr2
|
APN |
13 |
54,867,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02187:Cdhr2
|
APN |
13 |
54,881,523 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02312:Cdhr2
|
APN |
13 |
54,865,701 (GRCm39) |
missense |
probably null |
0.97 |
|
IGL02877:Cdhr2
|
APN |
13 |
54,882,550 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03072:Cdhr2
|
APN |
13 |
54,874,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03263:Cdhr2
|
APN |
13 |
54,865,926 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
FR4449:Cdhr2
|
UTSW |
13 |
54,873,737 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4494001:Cdhr2
|
UTSW |
13 |
54,866,255 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4498001:Cdhr2
|
UTSW |
13 |
54,866,052 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0041:Cdhr2
|
UTSW |
13 |
54,874,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Cdhr2
|
UTSW |
13 |
54,881,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Cdhr2
|
UTSW |
13 |
54,882,614 (GRCm39) |
unclassified |
probably benign |
|
|
R0361:Cdhr2
|
UTSW |
13 |
54,881,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Cdhr2
|
UTSW |
13 |
54,866,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0598:Cdhr2
|
UTSW |
13 |
54,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0774:Cdhr2
|
UTSW |
13 |
54,865,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1330:Cdhr2
|
UTSW |
13 |
54,882,081 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1458:Cdhr2
|
UTSW |
13 |
54,865,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1659:Cdhr2
|
UTSW |
13 |
54,867,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Cdhr2
|
UTSW |
13 |
54,867,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2061:Cdhr2
|
UTSW |
13 |
54,868,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:Cdhr2
|
UTSW |
13 |
54,863,457 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2135:Cdhr2
|
UTSW |
13 |
54,868,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2365:Cdhr2
|
UTSW |
13 |
54,865,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3693:Cdhr2
|
UTSW |
13 |
54,874,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3968:Cdhr2
|
UTSW |
13 |
54,874,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:Cdhr2
|
UTSW |
13 |
54,874,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4001:Cdhr2
|
UTSW |
13 |
54,866,079 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4003:Cdhr2
|
UTSW |
13 |
54,866,079 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4030:Cdhr2
|
UTSW |
13 |
54,865,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Cdhr2
|
UTSW |
13 |
54,865,701 (GRCm39) |
missense |
probably null |
0.97 |
|
R4256:Cdhr2
|
UTSW |
13 |
54,861,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4322:Cdhr2
|
UTSW |
13 |
54,881,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4396:Cdhr2
|
UTSW |
13 |
54,863,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4591:Cdhr2
|
UTSW |
13 |
54,863,497 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4726:Cdhr2
|
UTSW |
13 |
54,866,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5370:Cdhr2
|
UTSW |
13 |
54,868,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Cdhr2
|
UTSW |
13 |
54,884,269 (GRCm39) |
missense |
probably benign |
|
|
R5447:Cdhr2
|
UTSW |
13 |
54,881,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Cdhr2
|
UTSW |
13 |
54,884,349 (GRCm39) |
missense |
probably benign |
|
|
R5727:Cdhr2
|
UTSW |
13 |
54,872,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5771:Cdhr2
|
UTSW |
13 |
54,874,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5924:Cdhr2
|
UTSW |
13 |
54,874,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5928:Cdhr2
|
UTSW |
13 |
54,881,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6246:Cdhr2
|
UTSW |
13 |
54,867,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Cdhr2
|
UTSW |
13 |
54,874,589 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6358:Cdhr2
|
UTSW |
13 |
54,884,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6433:Cdhr2
|
UTSW |
13 |
54,866,325 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7044:Cdhr2
|
UTSW |
13 |
54,881,134 (GRCm39) |
nonsense |
probably null |
|
|
R7341:Cdhr2
|
UTSW |
13 |
54,867,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7462:Cdhr2
|
UTSW |
13 |
54,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Cdhr2
|
UTSW |
13 |
54,865,728 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7763:Cdhr2
|
UTSW |
13 |
54,865,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Cdhr2
|
UTSW |
13 |
54,866,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Cdhr2
|
UTSW |
13 |
54,882,035 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8070:Cdhr2
|
UTSW |
13 |
54,867,606 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8129:Cdhr2
|
UTSW |
13 |
54,864,208 (GRCm39) |
splice site |
probably null |
|
|
R8829:Cdhr2
|
UTSW |
13 |
54,865,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Cdhr2
|
UTSW |
13 |
54,874,184 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9050:Cdhr2
|
UTSW |
13 |
54,883,133 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9113:Cdhr2
|
UTSW |
13 |
54,882,700 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9205:Cdhr2
|
UTSW |
13 |
54,861,801 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9281:Cdhr2
|
UTSW |
13 |
54,881,703 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9290:Cdhr2
|
UTSW |
13 |
54,882,009 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9621:Cdhr2
|
UTSW |
13 |
54,866,350 (GRCm39) |
missense |
|
|
|
R9647:Cdhr2
|
UTSW |
13 |
54,867,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9697:Cdhr2
|
UTSW |
13 |
54,867,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9736:Cdhr2
|
UTSW |
13 |
54,872,041 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,874,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,866,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cdhr2
|
UTSW |
13 |
54,863,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAATGTGGATGTGTAGTGAC -3'
(R):5'- CTGTACACACTCCAGGATGG -3'
Sequencing Primer
(F):5'- CCAAGCCAGGTGTGATGTACATTTC -3'
(R):5'- ATGGAGACCCTGCCTCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation