Incidental Mutation 'R8129:Cdhr2'
| ID |
643822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
Pcdh24, LOC268663 |
| MMRRC Submission |
067558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8129 (G1)
|
| Quality Score |
103.008 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 54864208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
| AlphaFold |
E9Q7P9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037145
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
| 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: 99.6%
- 10x: 98.0%
- 20x: 85.2%
|
| Validation Efficiency |
98% (99/101) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
C |
2: 35,266,187 (GRCm39) |
D161G |
probably damaging |
Het |
| Adamts19 |
T |
C |
18: 59,140,559 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
T |
19: 8,977,464 (GRCm39) |
M1L |
not run |
Het |
| Appl1 |
A |
G |
14: 26,671,466 (GRCm39) |
S329P |
possibly damaging |
Het |
| Bach1 |
C |
T |
16: 87,519,314 (GRCm39) |
R535W |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,915,033 (GRCm39) |
D77G |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
| Col25a1 |
T |
C |
3: 130,290,050 (GRCm39) |
S247P |
probably damaging |
Het |
| Commd8 |
T |
C |
5: 72,320,164 (GRCm39) |
M126V |
unknown |
Het |
| Dpysl4 |
C |
T |
7: 138,666,076 (GRCm39) |
T13M |
probably benign |
Het |
| Epc1 |
A |
G |
18: 6,439,634 (GRCm39) |
V776A |
possibly damaging |
Het |
| Fancg |
G |
T |
4: 43,005,036 (GRCm39) |
|
probably null |
Het |
| Fdx1 |
T |
C |
9: 51,859,926 (GRCm39) |
T135A |
probably benign |
Het |
| Fgf7 |
T |
C |
2: 125,877,765 (GRCm39) |
V44A |
probably benign |
Het |
| Fgfr3 |
A |
T |
5: 33,891,250 (GRCm39) |
M523L |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,151,000 (GRCm39) |
H548L |
unknown |
Het |
| Ftsj3 |
C |
A |
11: 106,144,657 (GRCm39) |
V111F |
probably benign |
Het |
| Gm28168 |
T |
A |
1: 117,857,483 (GRCm39) |
D12E |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,844 (GRCm39) |
T488A |
probably benign |
Het |
| Hormad2 |
C |
A |
11: 4,296,648 (GRCm39) |
V279L |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,108,105 (GRCm39) |
K123E |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,754,320 (GRCm39) |
S589P |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,341,447 (GRCm39) |
H286Q |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,490,987 (GRCm39) |
C423S |
probably damaging |
Het |
| L1td1 |
A |
T |
4: 98,621,563 (GRCm39) |
M42L |
probably benign |
Het |
| Large1 |
T |
C |
8: 73,542,585 (GRCm39) |
D713G |
probably damaging |
Het |
| Llgl2 |
C |
A |
11: 115,741,737 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,260,624 (GRCm39) |
V4536M |
possibly damaging |
Het |
| Map3k19 |
A |
C |
1: 127,750,420 (GRCm39) |
L977R |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,399,026 (GRCm39) |
D1617V |
|
Het |
| Nek3 |
A |
G |
8: 22,639,908 (GRCm39) |
I189T |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,355,068 (GRCm39) |
|
probably null |
Het |
| Omd |
A |
C |
13: 49,745,565 (GRCm39) |
D325A |
probably damaging |
Het |
| Or1x6 |
G |
A |
11: 50,939,210 (GRCm39) |
R92K |
probably benign |
Het |
| Or4a76 |
C |
A |
2: 89,460,792 (GRCm39) |
G150V |
probably damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,584 (GRCm39) |
Y52C |
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,508 (GRCm39) |
Y16F |
probably damaging |
Het |
| Pabpc6 |
C |
T |
17: 9,887,427 (GRCm39) |
V375I |
possibly damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,832 (GRCm39) |
D447G |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,262,944 (GRCm39) |
W1032R |
probably damaging |
Het |
| Ppp2r5d |
T |
C |
17: 46,995,263 (GRCm39) |
Y524C |
probably benign |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,364 (GRCm39) |
Y573H |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,096,200 (GRCm39) |
I568T |
probably benign |
Het |
| Ptpn22 |
G |
A |
3: 103,797,600 (GRCm39) |
|
probably null |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,549 (GRCm39) |
D507G |
probably damaging |
Het |
| Rdh7 |
A |
G |
10: 127,723,370 (GRCm39) |
S162P |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,113,775 (GRCm39) |
A378V |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,317,350 (GRCm39) |
F738S |
probably damaging |
Het |
| Sdk1 |
C |
A |
5: 142,177,648 (GRCm39) |
N2031K |
probably benign |
Het |
| Serpina3c |
A |
T |
12: 104,118,056 (GRCm39) |
L94Q |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,381,834 (GRCm39) |
S333G |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,822,658 (GRCm39) |
V88A |
possibly damaging |
Het |
| Smarcad1 |
G |
T |
6: 65,044,078 (GRCm39) |
D217Y |
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,765,390 (GRCm39) |
F244S |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,443,959 (GRCm39) |
D2156N |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Tap2 |
C |
T |
17: 34,424,672 (GRCm39) |
T135I |
probably benign |
Het |
| Tbx15 |
G |
T |
3: 99,161,254 (GRCm39) |
V20F |
probably damaging |
Het |
| Tes |
A |
T |
6: 17,065,242 (GRCm39) |
|
probably benign |
Het |
| Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
| Trim44 |
A |
G |
2: 102,230,848 (GRCm39) |
V61A |
unknown |
Het |
| Ttll5 |
T |
C |
12: 85,937,858 (GRCm39) |
|
probably null |
Het |
| Tubgcp4 |
C |
T |
2: 121,004,109 (GRCm39) |
T50I |
possibly damaging |
Het |
| Txndc17 |
G |
A |
11: 72,098,588 (GRCm39) |
V47M |
probably damaging |
Het |
| Ubp1 |
A |
G |
9: 113,804,417 (GRCm39) |
E494G |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,628,487 (GRCm39) |
S936T |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,603,154 (GRCm39) |
D585G |
probably damaging |
Het |
| Wdtc1 |
A |
T |
4: 133,031,460 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
A |
G |
4: 34,807,386 (GRCm39) |
M1891T |
probably damaging |
Het |
| Zfp84 |
A |
C |
7: 29,475,862 (GRCm39) |
I185L |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,956 (GRCm39) |
F364L |
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 |
|
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 |
|
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'- GTGTCACAGCCATCTCTCTG -3'
(R):5'- GGATTCCTGTCAGTCCAGAC -3'
Sequencing Primer
(F):5'- TGTCACTGCAGTCTGTGTTAC -3'
(R):5'- GTCAGTCCAGACCTCTGCATC -3'
|
| Posted On |
2020-08-26 |
Incidental Mutation