Incidental Mutation 'R5771:Cdhr2'
| ID |
445393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
Pcdh24, LOC268663 |
| MMRRC Submission |
043371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5771 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54874508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 860
(V860E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
| AlphaFold |
E9Q7P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: V860E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: V860E
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
95% (87/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,241,411 (GRCm39) |
N1091K |
probably damaging |
Het |
| Adam3 |
C |
T |
8: 25,197,427 (GRCm39) |
V335I |
probably benign |
Het |
| AI504432 |
G |
A |
3: 106,956,299 (GRCm39) |
|
noncoding transcript |
Het |
| Apcdd1 |
A |
G |
18: 63,070,027 (GRCm39) |
Y98C |
probably damaging |
Het |
| Aqp9 |
C |
T |
9: 71,030,146 (GRCm39) |
A214T |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,220,664 (GRCm39) |
D578G |
probably benign |
Het |
| Bcdin3d |
T |
C |
15: 99,368,717 (GRCm39) |
M161V |
probably benign |
Het |
| Bicral |
C |
T |
17: 47,136,284 (GRCm39) |
V309I |
possibly damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,831,203 (GRCm39) |
A580T |
probably benign |
Het |
| Clhc1 |
A |
T |
11: 29,513,854 (GRCm39) |
N302Y |
possibly damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,845,434 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,937,636 (GRCm39) |
N709S |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,826,328 (GRCm39) |
S512G |
probably benign |
Het |
| Dgcr8 |
C |
T |
16: 18,090,632 (GRCm39) |
V581I |
probably benign |
Het |
| Dnaaf10 |
A |
G |
11: 17,174,638 (GRCm39) |
T169A |
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,678,825 (GRCm39) |
V1790I |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,341,732 (GRCm39) |
K452E |
probably benign |
Het |
| Epb42 |
A |
C |
2: 120,852,301 (GRCm39) |
V564G |
probably damaging |
Het |
| Etv4 |
G |
A |
11: 101,662,282 (GRCm39) |
P335S |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,791,201 (GRCm39) |
|
probably null |
Het |
| Fcrl2 |
A |
T |
3: 87,170,775 (GRCm39) |
L3Q |
probably damaging |
Het |
| Frmd8 |
C |
A |
19: 5,919,478 (GRCm39) |
A190S |
probably benign |
Het |
| Gcm2 |
C |
T |
13: 41,256,991 (GRCm39) |
D253N |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,342,895 (GRCm39) |
V143A |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,374,050 (GRCm39) |
M1226T |
possibly damaging |
Het |
| Gm10110 |
C |
T |
14: 90,134,675 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm20939 |
T |
G |
17: 95,181,767 (GRCm39) |
C55W |
possibly damaging |
Het |
| Gm5407 |
T |
A |
16: 49,117,229 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
A |
G |
9: 118,387,351 (GRCm39) |
E1491G |
probably damaging |
Het |
| Hdac11 |
T |
A |
6: 91,146,364 (GRCm39) |
|
probably null |
Het |
| Hs3st3b1 |
C |
T |
11: 63,780,098 (GRCm39) |
S343N |
probably benign |
Het |
| Igkv12-44 |
G |
A |
6: 69,792,075 (GRCm39) |
P4S |
probably benign |
Het |
| Igkv1-35 |
C |
T |
6: 69,988,231 (GRCm39) |
V22I |
probably benign |
Het |
| Kcns2 |
A |
T |
15: 34,839,068 (GRCm39) |
T144S |
probably benign |
Het |
| Khdc1c |
T |
C |
1: 21,439,266 (GRCm39) |
V84A |
possibly damaging |
Het |
| Kif4-ps |
T |
A |
12: 101,115,544 (GRCm39) |
|
noncoding transcript |
Het |
| Lamc2 |
T |
G |
1: 153,017,340 (GRCm39) |
Y549S |
probably benign |
Het |
| Lect2 |
T |
A |
13: 56,696,154 (GRCm39) |
I8F |
probably benign |
Het |
| Loxl3 |
T |
A |
6: 83,012,780 (GRCm39) |
|
probably null |
Het |
| Lrwd1 |
A |
T |
5: 136,152,516 (GRCm39) |
I545N |
possibly damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,797,572 (GRCm39) |
C437R |
probably damaging |
Het |
| Lypd3 |
T |
C |
7: 24,339,787 (GRCm39) |
S285P |
probably benign |
Het |
| Mast2 |
T |
A |
4: 116,190,622 (GRCm39) |
H83L |
possibly damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,768,635 (GRCm39) |
F153L |
probably benign |
Het |
| Ms4a4b |
T |
A |
19: 11,438,606 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
A |
11: 101,450,364 (GRCm39) |
L41Q |
probably damaging |
Het |
| Nlrp4a |
G |
A |
7: 26,152,814 (GRCm39) |
C628Y |
probably damaging |
Het |
| Nup160 |
C |
T |
2: 90,553,740 (GRCm39) |
R1157C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,891,533 (GRCm39) |
I7000F |
unknown |
Het |
| Or4k41 |
T |
A |
2: 111,280,406 (GRCm39) |
|
probably null |
Het |
| Or4p21 |
A |
T |
2: 88,276,652 (GRCm39) |
V210D |
possibly damaging |
Het |
| Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
| Or5b122 |
T |
G |
19: 13,562,872 (GRCm39) |
V25G |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,546 (GRCm39) |
Y149F |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,094,217 (GRCm39) |
K345E |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,701,162 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
T |
9: 50,778,132 (GRCm39) |
Q219L |
probably damaging |
Het |
| Prim2 |
A |
G |
1: 33,493,232 (GRCm39) |
S485P |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,097 (GRCm39) |
D380G |
probably damaging |
Het |
| Psmg1 |
A |
G |
16: 95,783,369 (GRCm39) |
L243S |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,685,061 (GRCm39) |
V270D |
probably benign |
Het |
| Rnft1 |
C |
T |
11: 86,384,032 (GRCm39) |
R311* |
probably null |
Het |
| Scaper |
T |
A |
9: 55,724,075 (GRCm39) |
I628L |
probably damaging |
Het |
| Serpina3j |
C |
A |
12: 104,281,185 (GRCm39) |
H119Q |
possibly damaging |
Het |
| Slamf6 |
G |
A |
1: 171,745,341 (GRCm39) |
V23I |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,815,688 (GRCm39) |
M45K |
possibly damaging |
Het |
| Slc25a11 |
A |
C |
11: 70,537,016 (GRCm39) |
V13G |
probably damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,292,856 (GRCm39) |
Y143F |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,025,342 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,113,476 (GRCm39) |
L28F |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,923,335 (GRCm39) |
V314A |
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,655,086 (GRCm39) |
N255S |
possibly damaging |
Het |
| Tbxa2r |
T |
A |
10: 81,168,775 (GRCm39) |
W155R |
probably damaging |
Het |
| Tcf3 |
A |
G |
10: 80,257,450 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,404,959 (GRCm39) |
D148G |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,461,235 (GRCm39) |
N854D |
probably benign |
Het |
| Vstm4 |
A |
T |
14: 32,626,526 (GRCm39) |
H64L |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,256,276 (GRCm39) |
T282A |
probably damaging |
Het |
| Zscan4c |
A |
T |
7: 10,743,574 (GRCm39) |
D391V |
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 |
|
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'- TTCTACAGCCAATGTCACCGTC -3'
(R):5'- ACAAGAGCTGAAGTGGTCCC -3'
Sequencing Primer
(F):5'- ATGTGAATGATGAGCCGCCC -3'
(R):5'- AGCTGAAGTGGTCCCCAGAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation