Incidental Mutation 'R7488:Cdhr2'
ID |
580365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
MMRRC Submission |
045562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R7488 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54865728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 242
(I242T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
AlphaFold |
E9Q7P9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037145
AA Change: I242T
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: I242T
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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,197,179 (GRCm39) |
F251I |
possibly damaging |
Het |
Abcb11 |
C |
T |
2: 69,108,146 (GRCm39) |
G717D |
probably benign |
Het |
Abcc1 |
G |
A |
16: 14,207,763 (GRCm39) |
W47* |
probably null |
Het |
Ahnak2 |
A |
G |
12: 112,748,641 (GRCm39) |
I402T |
|
Het |
Ankfy1 |
G |
A |
11: 72,650,769 (GRCm39) |
R984Q |
probably benign |
Het |
Apaf1 |
A |
G |
10: 90,890,242 (GRCm39) |
I598T |
probably benign |
Het |
Apobec1 |
G |
T |
6: 122,558,521 (GRCm39) |
P78Q |
possibly damaging |
Het |
Asap1 |
A |
T |
15: 63,991,974 (GRCm39) |
I737N |
probably benign |
Het |
Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
Bcr |
A |
C |
10: 74,996,162 (GRCm39) |
D902A |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,723,367 (GRCm39) |
|
probably null |
Het |
Ccdc27 |
T |
C |
4: 154,117,424 (GRCm39) |
T508A |
probably benign |
Het |
Ccz1 |
T |
A |
5: 143,928,401 (GRCm39) |
N383I |
probably damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Cdk4 |
T |
A |
10: 126,900,106 (GRCm39) |
M1K |
probably null |
Het |
Cfap96 |
A |
G |
8: 46,415,331 (GRCm39) |
V225A |
probably benign |
Het |
Cntn5 |
A |
T |
9: 9,970,570 (GRCm39) |
S302T |
probably damaging |
Het |
Col25a1 |
G |
T |
3: 130,378,350 (GRCm39) |
G601V |
probably damaging |
Het |
Cpb1 |
A |
G |
3: 20,324,488 (GRCm39) |
L62P |
possibly damaging |
Het |
Cpne1 |
T |
C |
2: 155,919,857 (GRCm39) |
T264A |
probably benign |
Het |
Cpvl |
T |
A |
6: 53,924,727 (GRCm39) |
N198Y |
probably damaging |
Het |
Cyp2u1 |
A |
C |
3: 131,091,596 (GRCm39) |
L308R |
probably damaging |
Het |
Ddx54 |
G |
T |
5: 120,762,789 (GRCm39) |
V637L |
probably benign |
Het |
Dglucy |
C |
A |
12: 100,823,310 (GRCm39) |
P472T |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,124,855 (GRCm39) |
Y2006H |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,089,387 (GRCm39) |
M1121T |
possibly damaging |
Het |
Emsy |
A |
G |
7: 98,264,762 (GRCm39) |
V545A |
possibly damaging |
Het |
Ezh1 |
G |
A |
11: 101,091,726 (GRCm39) |
L480F |
possibly damaging |
Het |
Fbln2 |
T |
A |
6: 91,242,845 (GRCm39) |
|
probably null |
Het |
Gja10 |
T |
A |
4: 32,602,058 (GRCm39) |
K109* |
probably null |
Het |
Gm28042 |
A |
G |
2: 119,870,438 (GRCm39) |
N762S |
probably benign |
Het |
Gnb1l |
C |
A |
16: 18,359,220 (GRCm39) |
P7Q |
possibly damaging |
Het |
Grem2 |
A |
T |
1: 174,664,685 (GRCm39) |
S55T |
probably damaging |
Het |
Gsn |
A |
T |
2: 35,186,433 (GRCm39) |
N393I |
possibly damaging |
Het |
H6pd |
T |
A |
4: 150,067,093 (GRCm39) |
Q439L |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,310,842 (GRCm39) |
G3362E |
probably damaging |
Het |
Ighv11-2 |
T |
C |
12: 114,011,978 (GRCm39) |
Y79C |
probably damaging |
Het |
Ikzf2 |
T |
A |
1: 69,578,544 (GRCm39) |
N322Y |
probably benign |
Het |
Il25 |
A |
G |
14: 55,170,459 (GRCm39) |
I11V |
probably benign |
Het |
Jak2 |
C |
T |
19: 29,275,783 (GRCm39) |
T741I |
probably damaging |
Het |
Kdm3b |
T |
C |
18: 34,957,934 (GRCm39) |
S1300P |
probably damaging |
Het |
Ldb3 |
T |
A |
14: 34,289,402 (GRCm39) |
Q268L |
probably damaging |
Het |
Lrrc23 |
T |
A |
6: 124,756,075 (GRCm39) |
D6V |
unknown |
Het |
Megf10 |
A |
G |
18: 57,324,187 (GRCm39) |
Y76C |
probably damaging |
Het |
Neb |
A |
T |
2: 52,110,233 (GRCm39) |
M205K |
probably benign |
Het |
Or12e8 |
T |
C |
2: 87,188,597 (GRCm39) |
S270P |
probably damaging |
Het |
Or6c2b |
G |
T |
10: 128,947,605 (GRCm39) |
Q230K |
probably benign |
Het |
Or8a1 |
A |
G |
9: 37,641,983 (GRCm39) |
S99P |
probably damaging |
Het |
Pcnx3 |
G |
A |
19: 5,717,487 (GRCm39) |
R1541W |
possibly damaging |
Het |
Pdgfd |
A |
G |
9: 6,359,739 (GRCm39) |
Y270C |
probably damaging |
Het |
Pds5b |
A |
T |
5: 150,646,802 (GRCm39) |
D197V |
probably damaging |
Het |
Pknox2 |
A |
G |
9: 36,866,127 (GRCm39) |
M30T |
probably benign |
Het |
Plekhg1 |
A |
T |
10: 3,907,491 (GRCm39) |
S858C |
|
Het |
Por |
A |
T |
5: 135,762,498 (GRCm39) |
E400D |
probably benign |
Het |
Pou2af2 |
C |
A |
9: 51,201,360 (GRCm39) |
R232L |
probably damaging |
Het |
Psip1 |
A |
G |
4: 83,391,275 (GRCm39) |
|
probably null |
Het |
Retreg1 |
G |
T |
15: 25,889,628 (GRCm39) |
V111F |
|
Het |
Rock1 |
G |
A |
18: 10,122,762 (GRCm39) |
A353V |
probably damaging |
Het |
Rpl6 |
C |
G |
5: 121,346,591 (GRCm39) |
R231G |
probably benign |
Het |
Scn7a |
C |
T |
2: 66,587,574 (GRCm39) |
R43H |
probably benign |
Het |
Scnn1g |
T |
A |
7: 121,362,657 (GRCm39) |
N488K |
probably benign |
Het |
Slc24a1 |
A |
G |
9: 64,831,764 (GRCm39) |
V1111A |
probably benign |
Het |
Snapc1 |
C |
T |
12: 74,029,285 (GRCm39) |
S356L |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,723,039 (GRCm39) |
T714A |
possibly damaging |
Het |
Ssbp2 |
T |
A |
13: 91,823,209 (GRCm39) |
N201K |
probably damaging |
Het |
Tfdp2 |
A |
G |
9: 96,179,695 (GRCm39) |
N43D |
probably damaging |
Het |
Tmprss11d |
A |
G |
5: 86,474,309 (GRCm39) |
I216T |
probably damaging |
Het |
Tmprss4 |
A |
G |
9: 45,086,853 (GRCm39) |
S303P |
probably benign |
Het |
Tnpo2 |
A |
G |
8: 85,781,663 (GRCm39) |
E815G |
probably benign |
Het |
Trav6-1 |
A |
C |
14: 52,875,972 (GRCm39) |
M1L |
possibly damaging |
Het |
Trpm3 |
T |
C |
19: 22,955,937 (GRCm39) |
V1133A |
probably damaging |
Het |
Trpv1 |
C |
T |
11: 73,129,355 (GRCm39) |
P91S |
probably benign |
Het |
Trpv2 |
T |
C |
11: 62,480,576 (GRCm39) |
Y338H |
probably damaging |
Het |
Txnip |
T |
C |
3: 96,467,539 (GRCm39) |
M336T |
probably benign |
Het |
Vmn1r61 |
A |
T |
7: 5,613,767 (GRCm39) |
H182Q |
possibly damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,429,045 (GRCm39) |
V677A |
probably damaging |
Het |
Wwp1 |
G |
T |
4: 19,627,660 (GRCm39) |
T745K |
probably damaging |
Het |
Xkr5 |
C |
A |
8: 18,983,608 (GRCm39) |
E645* |
probably null |
Het |
Zfp451 |
C |
T |
1: 33,818,221 (GRCm39) |
R303H |
probably benign |
Het |
Zyg11b |
T |
C |
4: 108,123,655 (GRCm39) |
H104R |
possibly 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 |
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'- CAAGAGTGCCTTCTACCAGC -3'
(R):5'- ATGTCATTGATGCCTTTGTCACTG -3'
Sequencing Primer
(F):5'- AGTGCCTTCTACCAGCTGGAG -3'
(R):5'- TGTCCACAGCCTCCACG -3'
|
Posted On |
2019-10-07 |