Incidental Mutation 'R8070:Cdhr2'
| ID |
620256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
Pcdh24, LOC268663 |
| MMRRC Submission |
067505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8070 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54867606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 479
(V479L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
| AlphaFold |
E9Q7P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
AA Change: V479L
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: V479L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,055,510 (GRCm39) |
E82G |
probably benign |
Het |
| 9830107B12Rik |
A |
G |
17: 48,452,681 (GRCm39) |
F86S |
probably damaging |
Het |
| Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
| Acta1 |
T |
A |
8: 124,620,360 (GRCm39) |
D26V |
possibly damaging |
Het |
| Adra1d |
A |
C |
2: 131,403,502 (GRCm39) |
L196R |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,621,909 (GRCm39) |
C132Y |
probably benign |
Het |
| Amd1 |
A |
G |
10: 40,170,226 (GRCm39) |
V92A |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,310,844 (GRCm39) |
I149K |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,674,041 (GRCm39) |
M312V |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,978,643 (GRCm39) |
V381E |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,369,720 (GRCm39) |
V207I |
possibly damaging |
Het |
| Cdh24 |
T |
C |
14: 54,870,030 (GRCm39) |
Q629R |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,101,506 (GRCm39) |
S1407P |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,681,523 (GRCm39) |
V39A |
possibly damaging |
Het |
| Cwh43 |
T |
A |
5: 73,578,806 (GRCm39) |
M357K |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,386,180 (GRCm39) |
D351E |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,069,576 (GRCm39) |
I517V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,915,497 (GRCm39) |
E4374G |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,275,922 (GRCm39) |
S336P |
possibly damaging |
Het |
| Enoph1 |
A |
T |
5: 100,208,841 (GRCm39) |
E65D |
probably benign |
Het |
| Fam83f |
T |
A |
15: 80,556,281 (GRCm39) |
L55Q |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,401,472 (GRCm39) |
F379L |
|
Het |
| Fscb |
A |
T |
12: 64,521,382 (GRCm39) |
M28K |
probably benign |
Het |
| Gas7 |
G |
A |
11: 67,574,260 (GRCm39) |
V412M |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,727,057 (GRCm39) |
V638E |
probably benign |
Het |
| Ggt1 |
A |
T |
10: 75,414,733 (GRCm39) |
I184F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,629 (GRCm39) |
N1103S |
probably benign |
Het |
| Gm5592 |
G |
A |
7: 40,935,887 (GRCm39) |
A130T |
possibly damaging |
Het |
| Gys2 |
T |
C |
6: 142,394,230 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
A |
1: 150,525,743 (GRCm39) |
E3327* |
probably null |
Het |
| Ighv1-36 |
C |
T |
12: 114,843,656 (GRCm39) |
G68E |
probably damaging |
Het |
| Igkv6-32 |
G |
A |
6: 70,051,089 (GRCm39) |
T89M |
probably damaging |
Het |
| Ipo7 |
A |
G |
7: 109,652,014 (GRCm39) |
D931G |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,330,631 (GRCm39) |
E437G |
probably benign |
Het |
| Lingo3 |
C |
T |
10: 80,671,955 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
A |
G |
17: 17,758,900 (GRCm39) |
S815P |
probably damaging |
Het |
| Ly6a |
T |
C |
15: 74,869,449 (GRCm39) |
D2G |
probably damaging |
Het |
| Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,078 (GRCm39) |
|
probably null |
Het |
| Mecom |
T |
C |
3: 30,033,987 (GRCm39) |
E239G |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,852,838 (GRCm39) |
V889A |
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,938,986 (GRCm39) |
N1675I |
probably benign |
Het |
| Ndrg4 |
T |
C |
8: 96,426,756 (GRCm39) |
F50L |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,508,293 (GRCm39) |
Y286C |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,604 (GRCm39) |
D195G |
probably damaging |
Het |
| Or2y14 |
A |
T |
11: 49,404,941 (GRCm39) |
T159S |
probably damaging |
Het |
| Or4p21 |
G |
T |
2: 88,277,003 (GRCm39) |
T93K |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,809,741 (GRCm39) |
L407P |
possibly damaging |
Het |
| Pgm2 |
A |
G |
5: 64,269,425 (GRCm39) |
N504S |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,690,283 (GRCm39) |
M656V |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,209 (GRCm39) |
T189A |
unknown |
Het |
| Ppp1r12b |
T |
C |
1: 134,803,807 (GRCm39) |
S451G |
probably benign |
Het |
| Prox1 |
T |
G |
1: 189,893,107 (GRCm39) |
N446T |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,195,199 (GRCm39) |
R1195S |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,701,832 (GRCm39) |
D37G |
probably damaging |
Het |
| Tfip11 |
T |
A |
5: 112,482,796 (GRCm39) |
M560K |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,915,320 (GRCm39) |
V260A |
probably damaging |
Het |
| Tle6 |
A |
G |
10: 81,434,476 (GRCm39) |
M41T |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,249 (GRCm39) |
S68P |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,934,661 (GRCm39) |
N826S |
probably damaging |
Het |
| Tuba3a |
T |
C |
6: 125,255,433 (GRCm39) |
E414G |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,571,695 (GRCm39) |
I502V |
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,336 (GRCm39) |
Y245F |
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 |
|
R8069:Cdhr2
|
UTSW |
13 |
54,878,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAGGTGGTGGTGAGAAACTC -3'
(R):5'- TACATCGTACGCACACTCGC -3'
Sequencing Primer
(F):5'- CTCAGAGATGGTGGACTATGAG -3'
(R):5'- TCGCAGAGACCCAGTGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation