Incidental Mutation 'R6246:Cdhr2'
ID |
505801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
MMRRC Submission |
044436-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6246 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54867523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 451
(V451A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
AlphaFold |
E9Q7P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: V451A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: V451A
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (78/78) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,850,999 (GRCm39) |
V2110E |
probably damaging |
Het |
Acaca |
C |
A |
11: 84,206,796 (GRCm39) |
T1552K |
probably benign |
Het |
Aknad1 |
A |
G |
3: 108,659,148 (GRCm39) |
D54G |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,187,462 (GRCm39) |
T435A |
possibly damaging |
Het |
Azgp1 |
A |
G |
5: 137,983,475 (GRCm39) |
D50G |
possibly damaging |
Het |
Bbx |
A |
G |
16: 50,045,023 (GRCm39) |
S513P |
probably benign |
Het |
Ccdc85a |
C |
T |
11: 28,526,897 (GRCm39) |
S209N |
probably damaging |
Het |
Cdca2 |
T |
A |
14: 67,915,277 (GRCm39) |
R661* |
probably null |
Het |
Cenpt |
C |
T |
8: 106,575,891 (GRCm39) |
G152S |
possibly damaging |
Het |
Chd9 |
A |
G |
8: 91,659,045 (GRCm39) |
T2A |
probably damaging |
Het |
Chst14 |
G |
A |
2: 118,757,482 (GRCm39) |
C117Y |
probably damaging |
Het |
Cic |
C |
T |
7: 24,971,067 (GRCm39) |
T266M |
probably damaging |
Het |
Clec12a |
A |
T |
6: 129,330,733 (GRCm39) |
N105I |
possibly damaging |
Het |
Cmah |
G |
A |
13: 24,650,773 (GRCm39) |
V525M |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,239,498 (GRCm39) |
L1233H |
probably damaging |
Het |
Cpt1a |
T |
C |
19: 3,426,550 (GRCm39) |
L572P |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,816,657 (GRCm39) |
L1365P |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dlg1 |
G |
A |
16: 31,484,468 (GRCm39) |
S32N |
probably benign |
Het |
Dnah14 |
T |
C |
1: 181,508,453 (GRCm39) |
I1877T |
probably benign |
Het |
Duox1 |
G |
T |
2: 122,157,655 (GRCm39) |
G594C |
probably damaging |
Het |
Eci2 |
T |
C |
13: 35,174,181 (GRCm39) |
N127D |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,811,365 (GRCm39) |
|
probably null |
Het |
Fat4 |
T |
C |
3: 38,945,870 (GRCm39) |
S1588P |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,866,902 (GRCm39) |
I1489F |
probably damaging |
Het |
Flrt3 |
A |
G |
2: 140,501,721 (GRCm39) |
Y636H |
probably damaging |
Het |
Frmd5 |
T |
A |
2: 121,381,529 (GRCm39) |
H62L |
possibly damaging |
Het |
Gm6309 |
A |
T |
5: 146,107,050 (GRCm39) |
Y99N |
probably damaging |
Het |
Gm8225 |
T |
C |
17: 26,762,652 (GRCm39) |
V281A |
probably benign |
Het |
Grep1 |
C |
A |
17: 23,929,465 (GRCm39) |
G315* |
probably null |
Het |
Grsf1 |
A |
G |
5: 88,810,451 (GRCm39) |
L353P |
possibly damaging |
Het |
Gtf2a1l |
A |
G |
17: 88,978,975 (GRCm39) |
R58G |
probably benign |
Het |
Guf1 |
G |
A |
5: 69,715,898 (GRCm39) |
G113R |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,892,212 (GRCm39) |
F51I |
probably damaging |
Het |
Hibch |
T |
C |
1: 52,943,801 (GRCm39) |
S250P |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,533,631 (GRCm39) |
M509K |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,175,577 (GRCm39) |
V595A |
probably benign |
Het |
Ints11 |
A |
G |
4: 155,972,546 (GRCm39) |
T460A |
probably benign |
Het |
Itprid1 |
A |
T |
6: 55,944,657 (GRCm39) |
K459N |
probably damaging |
Het |
Kdm5a |
G |
A |
6: 120,408,871 (GRCm39) |
G1518E |
probably damaging |
Het |
Khsrp |
T |
C |
17: 57,332,324 (GRCm39) |
D289G |
possibly damaging |
Het |
Kif14 |
C |
T |
1: 136,404,162 (GRCm39) |
Q29* |
probably null |
Het |
Krt72 |
T |
C |
15: 101,689,372 (GRCm39) |
K320R |
probably damaging |
Het |
Lcmt2 |
A |
G |
2: 120,970,870 (GRCm39) |
L71P |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,156,136 (GRCm39) |
D1037V |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,713,058 (GRCm39) |
T15A |
unknown |
Het |
Mia3 |
G |
T |
1: 183,126,720 (GRCm39) |
T7N |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,488,363 (GRCm39) |
|
probably null |
Het |
Mup9 |
T |
A |
4: 60,375,809 (GRCm39) |
Y29F |
probably damaging |
Het |
Nisch |
T |
C |
14: 30,894,516 (GRCm39) |
D1105G |
probably damaging |
Het |
Odad1 |
A |
G |
7: 45,585,788 (GRCm39) |
I116V |
probably damaging |
Het |
Oip5 |
T |
C |
2: 119,446,101 (GRCm39) |
T136A |
probably benign |
Het |
Or2a52 |
G |
A |
6: 43,144,436 (GRCm39) |
|
probably null |
Het |
Osbpl10 |
C |
A |
9: 115,055,842 (GRCm39) |
N532K |
probably benign |
Het |
P2ry12 |
C |
T |
3: 59,124,950 (GRCm39) |
V242I |
probably benign |
Het |
Pdhx |
A |
T |
2: 102,877,137 (GRCm39) |
C26S |
probably damaging |
Het |
Pgk2 |
A |
T |
17: 40,518,315 (GRCm39) |
I371K |
probably damaging |
Het |
Phyhip |
T |
C |
14: 70,704,495 (GRCm39) |
V238A |
probably damaging |
Het |
Pla2g4a |
G |
A |
1: 149,748,338 (GRCm39) |
T282I |
probably damaging |
Het |
Pld5 |
A |
T |
1: 175,791,475 (GRCm39) |
C448* |
probably null |
Het |
Plk1 |
T |
A |
7: 121,768,659 (GRCm39) |
I553N |
probably damaging |
Het |
Ppp1r13l |
T |
A |
7: 19,103,783 (GRCm39) |
I88K |
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
Septin7 |
A |
G |
9: 25,218,817 (GRCm39) |
E428G |
probably benign |
Het |
Serpina3j |
G |
A |
12: 104,283,706 (GRCm39) |
G268D |
probably damaging |
Het |
Smc2 |
A |
T |
4: 52,460,289 (GRCm39) |
D555V |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,962,980 (GRCm39) |
I376F |
probably benign |
Het |
Spag6 |
G |
A |
2: 18,703,906 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,289,204 (GRCm39) |
I454V |
probably benign |
Het |
Tlcd3b |
T |
A |
7: 126,426,668 (GRCm39) |
F30L |
probably damaging |
Het |
Tm9sf1 |
C |
T |
14: 55,873,827 (GRCm39) |
R557H |
probably damaging |
Het |
Traf5 |
C |
T |
1: 191,754,853 (GRCm39) |
E28K |
probably damaging |
Het |
Trav23 |
G |
A |
14: 54,214,885 (GRCm39) |
E33K |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,801 (GRCm39) |
S453P |
probably damaging |
Het |
Tssk1 |
A |
G |
16: 17,713,303 (GRCm39) |
T363A |
probably benign |
Het |
Txnrd3 |
A |
G |
6: 89,628,523 (GRCm39) |
N88S |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,216,246 (GRCm39) |
S182G |
probably benign |
Het |
Vmn2r89 |
A |
T |
14: 51,693,503 (GRCm39) |
R284S |
probably damaging |
Het |
Zbtb14 |
A |
G |
17: 69,694,478 (GRCm39) |
T59A |
possibly damaging |
Het |
Zcchc2 |
T |
A |
1: 105,957,796 (GRCm39) |
S756T |
possibly damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (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 |
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 |
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'- GCGACAATGGTACCTTCCTG -3'
(R):5'- ATCACTCACCTGGATTTTGTCAG -3'
Sequencing Primer
(F):5'- CCAGGATGCTGAAGCCTTCAATG -3'
(R):5'- TCAGTGACCAGATAACCTGTTGGAC -3'
|
Posted On |
2018-02-28 |