Incidental Mutation 'R5924:Cdhr2'
| ID |
461745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
Pcdh24, LOC268663 |
| MMRRC Submission |
044119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5924 (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 C
at 54874496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 856
(D856A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
| AlphaFold |
E9Q7P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
AA Change: D856A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: D856A
| 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: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
C |
18: 10,706,085 (GRCm39) |
Y76C |
probably damaging |
Het |
| Agbl1 |
C |
T |
7: 76,058,982 (GRCm39) |
T204I |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,147,984 (GRCm39) |
I984F |
probably damaging |
Het |
| Art3 |
A |
T |
5: 92,560,091 (GRCm39) |
|
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,650,742 (GRCm39) |
M839V |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,938,430 (GRCm39) |
L506Q |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,554,205 (GRCm39) |
|
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,137 (GRCm39) |
F221Y |
possibly damaging |
Het |
| Dcakd |
C |
A |
11: 102,890,646 (GRCm39) |
R47L |
probably benign |
Het |
| Ddr2 |
A |
G |
1: 169,822,197 (GRCm39) |
V417A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,307,473 (GRCm39) |
T1734S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,332,529 (GRCm39) |
M227K |
probably damaging |
Het |
| Eif4g3 |
T |
G |
4: 137,929,237 (GRCm39) |
N1628K |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,381,533 (GRCm39) |
Y439* |
probably null |
Het |
| Esrp1 |
G |
T |
4: 11,361,174 (GRCm39) |
T324K |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,890,765 (GRCm38) |
M549K |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,992,442 (GRCm39) |
Q418L |
unknown |
Het |
| Ggnbp2 |
A |
G |
11: 84,749,363 (GRCm39) |
S144P |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,032,563 (GRCm39) |
|
probably null |
Het |
| Gpr137 |
A |
G |
19: 6,916,729 (GRCm39) |
L228P |
probably damaging |
Het |
| Gpt2 |
C |
A |
8: 86,219,633 (GRCm39) |
S26R |
probably damaging |
Het |
| Hras |
C |
T |
7: 140,772,374 (GRCm39) |
E91K |
possibly damaging |
Het |
| Ighv1-36 |
G |
A |
12: 114,843,777 (GRCm39) |
P28S |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,064,203 (GRCm39) |
T807M |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,202,453 (GRCm39) |
T365A |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,594,658 (GRCm39) |
S795T |
possibly damaging |
Het |
| Magi2 |
A |
C |
5: 20,816,067 (GRCm39) |
M1128L |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,961,854 (GRCm39) |
|
probably null |
Het |
| Mier1 |
T |
A |
4: 103,016,899 (GRCm39) |
L380* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,230,750 (GRCm39) |
Y118C |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,971,421 (GRCm39) |
M277K |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,503,403 (GRCm39) |
V473A |
probably damaging |
Het |
| Nsfl1c |
T |
A |
2: 151,347,320 (GRCm39) |
N164K |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,916,187 (GRCm39) |
Q353L |
probably benign |
Het |
| Opn5 |
A |
T |
17: 42,922,199 (GRCm39) |
M1K |
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,393,254 (GRCm39) |
V205A |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,364,139 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5d41 |
T |
C |
2: 88,054,891 (GRCm39) |
I162V |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,311,634 (GRCm39) |
S434P |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,023,389 (GRCm39) |
Q256* |
probably null |
Het |
| Pik3ap1 |
A |
C |
19: 41,284,895 (GRCm39) |
F597V |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,646,424 (GRCm39) |
K744E |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,162,305 (GRCm39) |
T729A |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,813,582 (GRCm39) |
L652P |
probably damaging |
Het |
| Sebox |
T |
C |
11: 78,395,017 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
T |
9: 110,403,112 (GRCm39) |
I1918F |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 86,929,825 (GRCm39) |
|
probably null |
Het |
| Slc28a1 |
G |
T |
7: 80,765,360 (GRCm39) |
G25V |
probably benign |
Het |
| Slc51a |
A |
G |
16: 32,295,990 (GRCm39) |
F259L |
possibly damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,923,898 (GRCm39) |
C37* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,581,622 (GRCm39) |
D188G |
probably damaging |
Het |
| Stim2 |
A |
G |
5: 54,259,985 (GRCm39) |
K156E |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,572,246 (GRCm39) |
I653T |
probably damaging |
Het |
| Tacr3 |
G |
T |
3: 134,638,060 (GRCm39) |
D406Y |
possibly damaging |
Het |
| Utp20 |
G |
A |
10: 88,651,784 (GRCm39) |
R400C |
probably benign |
Het |
| V1rd19 |
C |
T |
7: 23,703,374 (GRCm39) |
S280L |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,296,685 (GRCm39) |
C700Y |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,803,543 (GRCm39) |
C514S |
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 |
|
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'- AGTGAGTGCTGAGAACCCAG -3'
(R):5'- TCACCATTGCTGCTGTAAGC -3'
Sequencing Primer
(F):5'- GGCCTCGATTCTACAGCCAATG -3'
(R):5'- GCTGTAAGCATCAAAGCCCGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation