Incidental Mutation 'R4591:Cdhr2'
ID |
342851 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R4591 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54863497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 126
(N126S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
AlphaFold |
E9Q7P9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
AA Change: N126S
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: N126S
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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
T |
C |
3: 68,777,599 (GRCm39) |
S187P |
possibly damaging |
Het |
4932438H23Rik |
T |
C |
16: 90,852,959 (GRCm39) |
N59S |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,981,636 (GRCm39) |
D1030V |
probably damaging |
Het |
Acmsd |
A |
T |
1: 127,676,934 (GRCm39) |
N153I |
probably damaging |
Het |
Adprh |
C |
A |
16: 38,266,345 (GRCm39) |
V266L |
probably benign |
Het |
Aldh5a1 |
G |
A |
13: 25,107,991 (GRCm39) |
P217S |
probably damaging |
Het |
Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
Alyref |
C |
T |
11: 120,486,799 (GRCm39) |
R154Q |
probably benign |
Het |
Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
Aox3 |
A |
T |
1: 58,191,815 (GRCm39) |
I456F |
probably damaging |
Het |
Art4 |
A |
G |
6: 136,831,755 (GRCm39) |
Y129H |
probably damaging |
Het |
Asb16 |
C |
A |
11: 102,167,551 (GRCm39) |
H306N |
probably damaging |
Het |
Atp8a2 |
C |
A |
14: 59,892,078 (GRCm39) |
R1090L |
probably benign |
Het |
Brap |
G |
T |
5: 121,800,113 (GRCm39) |
V1F |
probably null |
Het |
C1qb |
C |
A |
4: 136,609,528 (GRCm39) |
G31W |
probably damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,275,425 (GRCm39) |
Y666H |
probably benign |
Het |
Casr |
T |
C |
16: 36,320,732 (GRCm39) |
N472S |
probably benign |
Het |
Ccdc91 |
T |
G |
6: 147,491,963 (GRCm39) |
S282A |
unknown |
Het |
Cd300lg |
A |
G |
11: 101,937,006 (GRCm39) |
T164A |
probably benign |
Het |
Cd79b |
A |
T |
11: 106,202,872 (GRCm39) |
D243E |
probably damaging |
Het |
Cdh6 |
C |
A |
15: 13,051,572 (GRCm39) |
V354F |
possibly damaging |
Het |
Cep192 |
A |
T |
18: 67,968,039 (GRCm39) |
N841I |
probably damaging |
Het |
Cngb1 |
T |
C |
8: 95,980,012 (GRCm39) |
T963A |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,955,592 (GRCm39) |
|
probably null |
Het |
Coro1a |
A |
G |
7: 126,302,164 (GRCm39) |
V61A |
probably damaging |
Het |
Crocc |
T |
A |
4: 140,745,983 (GRCm39) |
D1712V |
probably damaging |
Het |
Ddn |
T |
C |
15: 98,705,687 (GRCm39) |
D3G |
possibly damaging |
Het |
Dnal1 |
T |
C |
12: 84,180,627 (GRCm39) |
F89S |
probably benign |
Het |
Dusp3 |
T |
A |
11: 101,864,446 (GRCm39) |
|
probably benign |
Het |
Dyrk3 |
C |
A |
1: 131,057,895 (GRCm39) |
G58C |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,479,279 (GRCm39) |
F2775S |
probably benign |
Het |
Frk |
A |
G |
10: 34,481,829 (GRCm39) |
N373S |
probably benign |
Het |
Glmn |
A |
G |
5: 107,708,917 (GRCm39) |
|
probably null |
Het |
Gm11565 |
A |
T |
11: 99,805,769 (GRCm39) |
T54S |
possibly damaging |
Het |
Gm14410 |
A |
G |
2: 176,885,820 (GRCm39) |
I148T |
possibly damaging |
Het |
Gm21834 |
T |
A |
17: 58,048,880 (GRCm39) |
H112L |
possibly damaging |
Het |
Gm5862 |
A |
G |
5: 26,224,486 (GRCm39) |
I161T |
possibly damaging |
Het |
Grid2 |
G |
T |
6: 64,297,086 (GRCm39) |
G483V |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 106,995,533 (GRCm39) |
S1293T |
probably benign |
Het |
Il1a |
G |
A |
2: 129,148,447 (GRCm39) |
R88W |
probably damaging |
Het |
Il20rb |
A |
T |
9: 100,357,043 (GRCm39) |
V29D |
possibly damaging |
Het |
Ilvbl |
C |
T |
10: 78,419,139 (GRCm39) |
L463F |
probably benign |
Het |
Kif17 |
A |
G |
4: 138,005,110 (GRCm39) |
E225G |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,366,419 (GRCm39) |
F227L |
probably damaging |
Het |
Lrrc43 |
A |
G |
5: 123,639,227 (GRCm39) |
M419V |
probably benign |
Het |
Magel2 |
A |
G |
7: 62,030,837 (GRCm39) |
Q1247R |
unknown |
Het |
Mamdc4 |
T |
A |
2: 25,454,609 (GRCm39) |
M1068L |
possibly damaging |
Het |
Mdn1 |
T |
G |
4: 32,707,636 (GRCm39) |
S1642A |
probably damaging |
Het |
Mtarc1 |
T |
C |
1: 184,539,365 (GRCm39) |
E102G |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,655,506 (GRCm39) |
E819G |
probably benign |
Het |
Naa15 |
T |
C |
3: 51,349,345 (GRCm39) |
L38P |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,048 (GRCm39) |
R542G |
probably benign |
Het |
Or10c1 |
C |
T |
17: 37,522,010 (GRCm39) |
V245I |
probably benign |
Het |
Or4d2b |
A |
G |
11: 87,780,375 (GRCm39) |
S116P |
probably benign |
Het |
Or5ac19 |
A |
C |
16: 59,089,776 (GRCm39) |
F85V |
possibly damaging |
Het |
Or5b125-ps1 |
ACAC |
ACACGCAC |
19: 13,056,266 (GRCm39) |
|
noncoding transcript |
Het |
Pbxip1 |
T |
A |
3: 89,353,467 (GRCm39) |
L249Q |
probably benign |
Het |
Pla2g7 |
T |
C |
17: 43,911,450 (GRCm39) |
S201P |
probably damaging |
Het |
Psmd1 |
G |
T |
1: 86,055,926 (GRCm39) |
V763F |
probably benign |
Het |
Ptp4a2 |
A |
G |
4: 129,740,308 (GRCm39) |
E124G |
probably benign |
Het |
Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
Rbks |
T |
A |
5: 31,817,352 (GRCm39) |
K139M |
possibly damaging |
Het |
Rgs22 |
T |
A |
15: 36,100,282 (GRCm39) |
E268D |
probably benign |
Het |
Slc16a9 |
T |
G |
10: 70,118,710 (GRCm39) |
L343R |
probably damaging |
Het |
Smagp |
T |
C |
15: 100,519,860 (GRCm39) |
I55V |
probably damaging |
Het |
Sox13 |
T |
C |
1: 133,311,421 (GRCm39) |
S604G |
probably damaging |
Het |
St6gal1 |
G |
T |
16: 23,140,044 (GRCm39) |
V72F |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,485,606 (GRCm39) |
V247A |
probably benign |
Het |
Susd3 |
A |
T |
13: 49,384,736 (GRCm39) |
M217K |
possibly damaging |
Het |
Tas2r129 |
T |
A |
6: 132,928,574 (GRCm39) |
N170K |
probably benign |
Het |
Tmem245 |
C |
A |
4: 56,910,204 (GRCm39) |
A515S |
probably damaging |
Het |
Tpte |
T |
C |
8: 22,817,791 (GRCm39) |
V259A |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,952,332 (GRCm39) |
|
probably null |
Het |
Ttc28 |
G |
A |
5: 111,371,147 (GRCm39) |
R532H |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,646,916 (GRCm39) |
N529I |
possibly damaging |
Het |
Zfp574 |
T |
C |
7: 24,778,969 (GRCm39) |
|
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 |
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 |
R8069:Cdhr2
|
UTSW |
13 |
54,878,883 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AAGGGGCATACATCATACTGC -3'
(R):5'- ATAGGTAACACTGTCACCACCG -3'
Sequencing Primer
(F):5'- GGGCATACATCATACTGCTAGATAG -3'
(R):5'- CTGTGTACTTTTCCTACAACTGAGAG -3'
|
Posted On |
2015-09-24 |