Incidental Mutation 'R7771:Cdhr2'
ID |
598592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
MMRRC Submission |
045827-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R7771 (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 54866088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 296
(V296A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
AlphaFold |
E9Q7P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: V296A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: V296A
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 |
0.1383 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (56/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,069,535 (GRCm39) |
A1287T |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,992,411 (GRCm39) |
K4565R |
probably damaging |
Het |
Asb13 |
A |
G |
13: 3,699,463 (GRCm39) |
Y221C |
probably damaging |
Het |
BB014433 |
C |
T |
8: 15,092,395 (GRCm39) |
V153M |
probably damaging |
Het |
Brip1 |
T |
C |
11: 85,952,850 (GRCm39) |
E977G |
probably benign |
Het |
C3 |
T |
A |
17: 57,522,797 (GRCm39) |
D1029V |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,957,455 (GRCm39) |
E568G |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,946,702 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
G |
8: 96,491,753 (GRCm39) |
V357A |
probably damaging |
Het |
Coa3 |
A |
T |
11: 101,169,641 (GRCm39) |
M38K |
possibly damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,675,947 (GRCm39) |
N255S |
probably benign |
Het |
Cysrt1 |
T |
C |
2: 25,129,237 (GRCm39) |
S92G |
probably benign |
Het |
D030056L22Rik |
A |
G |
19: 18,690,842 (GRCm39) |
E52G |
possibly damaging |
Het |
Derl1 |
T |
C |
15: 57,743,436 (GRCm39) |
D97G |
probably damaging |
Het |
Ebf3 |
A |
G |
7: 136,911,092 (GRCm39) |
Y141H |
probably damaging |
Het |
Eci1 |
T |
A |
17: 24,652,125 (GRCm39) |
L49* |
probably null |
Het |
Gzma |
C |
T |
13: 113,234,829 (GRCm39) |
C54Y |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,291,717 (GRCm39) |
N3403S |
probably damaging |
Het |
Ide |
T |
C |
19: 37,275,525 (GRCm39) |
N495D |
|
Het |
Ighv1-23 |
T |
A |
12: 114,728,356 (GRCm39) |
Q22L |
probably benign |
Het |
Itgb2l |
A |
G |
16: 96,228,172 (GRCm39) |
C444R |
probably damaging |
Het |
Kcnj3 |
C |
A |
2: 55,336,949 (GRCm39) |
H272N |
probably damaging |
Het |
Lrp6 |
C |
T |
6: 134,439,579 (GRCm39) |
C1218Y |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,916,476 (GRCm39) |
M831T |
possibly damaging |
Het |
Map3k11 |
A |
G |
19: 5,740,636 (GRCm39) |
E121G |
probably damaging |
Het |
Mzt1 |
A |
T |
14: 99,278,012 (GRCm39) |
I52N |
probably damaging |
Het |
Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
Or52z12 |
A |
G |
7: 103,233,297 (GRCm39) |
I23V |
probably benign |
Het |
Or7e166 |
T |
A |
9: 19,624,767 (GRCm39) |
F215I |
probably benign |
Het |
Pcdhb17 |
A |
C |
18: 37,619,962 (GRCm39) |
Y584S |
possibly damaging |
Het |
Per3 |
A |
T |
4: 151,110,657 (GRCm39) |
D380E |
probably damaging |
Het |
Per3 |
A |
T |
4: 151,125,902 (GRCm39) |
L139Q |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,341,047 (GRCm39) |
Y717H |
probably damaging |
Het |
Pik3cg |
T |
C |
12: 32,254,013 (GRCm39) |
H658R |
probably benign |
Het |
Pitpnm3 |
G |
A |
11: 71,952,314 (GRCm39) |
Q626* |
probably null |
Het |
Polr3e |
T |
C |
7: 120,539,801 (GRCm39) |
V542A |
probably benign |
Het |
Rgs22 |
T |
A |
15: 36,050,224 (GRCm39) |
H866L |
possibly damaging |
Het |
Rnf150 |
A |
G |
8: 83,590,832 (GRCm39) |
E65G |
probably benign |
Het |
Sema3f |
C |
A |
9: 107,569,625 (GRCm39) |
R100L |
possibly damaging |
Het |
Skic3 |
A |
G |
13: 76,283,149 (GRCm39) |
H792R |
probably benign |
Het |
Smim18 |
T |
C |
8: 34,232,370 (GRCm39) |
D83G |
possibly damaging |
Het |
Snx13 |
T |
A |
12: 35,174,527 (GRCm39) |
D685E |
probably benign |
Het |
Stat5a |
A |
C |
11: 100,754,045 (GRCm39) |
N125T |
probably benign |
Het |
Stk24 |
T |
C |
14: 121,575,045 (GRCm39) |
E21G |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,189,516 (GRCm39) |
T923A |
probably damaging |
Het |
Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
Tmprss11b |
A |
T |
5: 86,809,554 (GRCm39) |
|
probably null |
Het |
Trpm2 |
T |
C |
10: 77,768,013 (GRCm39) |
I829V |
probably benign |
Het |
Ttc39a |
T |
C |
4: 109,288,647 (GRCm39) |
Y276H |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,287,460 (GRCm39) |
|
probably null |
Het |
Wdr73 |
G |
A |
7: 80,542,975 (GRCm39) |
A211V |
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,163,824 (GRCm39) |
V673A |
unknown |
Het |
Zfp382 |
A |
G |
7: 29,832,760 (GRCm39) |
H137R |
probably damaging |
Het |
Zp2 |
T |
G |
7: 119,742,865 (GRCm39) |
D89A |
probably damaging |
Het |
Zpld2 |
A |
T |
4: 133,922,754 (GRCm39) |
N526K |
probably benign |
Het |
Zranb3 |
A |
C |
1: 127,960,605 (GRCm39) |
Y220D |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,763,048 (GRCm39) |
V316I |
probably damaging |
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 |
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'- CATTGTGACCTACAGTGTCTCC -3'
(R):5'- TATTGTGACCCACATGCTTGC -3'
Sequencing Primer
(F):5'- TGACCTACAGTGTCTCCAGTGAG -3'
(R):5'- TGCCCGTAGATGTTCAGATTC -3'
|
Posted On |
2019-11-26 |