Incidental Mutation 'R9697:Cdhr2'
ID |
729388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr2
|
Ensembl Gene |
ENSMUSG00000034918 |
Gene Name |
cadherin-related family member 2 |
Synonyms |
Pcdh24, LOC268663 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R9697 (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 54867679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 503
(I503T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
AlphaFold |
E9Q7P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: I503T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043596 Gene: ENSMUSG00000034918 AA Change: I503T
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
C |
T |
17: 15,163,769 (GRCm39) |
|
probably benign |
Het |
9330182O14Rik |
C |
T |
15: 40,005,500 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
C |
A |
18: 59,101,834 (GRCm39) |
P635T |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,625,362 (GRCm39) |
W857R |
possibly damaging |
Het |
Ak9 |
T |
G |
10: 41,298,968 (GRCm39) |
Y1556* |
probably null |
Het |
Ang2 |
T |
C |
14: 51,433,326 (GRCm39) |
I19V |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,496,253 (GRCm39) |
T834S |
probably damaging |
Het |
As3mt |
A |
T |
19: 46,708,420 (GRCm39) |
I236F |
probably benign |
Het |
Asns |
A |
T |
6: 7,689,268 (GRCm39) |
I78N |
probably damaging |
Het |
Bet1 |
G |
A |
6: 4,082,471 (GRCm39) |
T44M |
probably damaging |
Het |
Cabyr |
T |
C |
18: 12,884,407 (GRCm39) |
V298A |
possibly damaging |
Het |
Cacna1c |
A |
G |
6: 118,589,598 (GRCm39) |
V1601A |
|
Het |
Ccni |
A |
T |
5: 93,350,201 (GRCm39) |
M26K |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,792,851 (GRCm39) |
K1754R |
unknown |
Het |
Cfap69 |
A |
G |
5: 5,676,041 (GRCm39) |
V218A |
possibly damaging |
Het |
Clcn3 |
A |
G |
8: 61,372,518 (GRCm39) |
L741P |
probably damaging |
Het |
Cntnap1 |
T |
C |
11: 101,068,828 (GRCm39) |
F124L |
possibly damaging |
Het |
Col20a1 |
G |
A |
2: 180,641,577 (GRCm39) |
G673D |
probably benign |
Het |
Col4a2 |
A |
G |
8: 11,487,628 (GRCm39) |
I977V |
probably benign |
Het |
Cyp3a59 |
A |
T |
5: 146,031,190 (GRCm39) |
I118F |
probably damaging |
Het |
Dgcr8 |
A |
T |
16: 18,098,283 (GRCm39) |
D369E |
probably benign |
Het |
Dhtkd1 |
T |
C |
2: 5,919,651 (GRCm39) |
T577A |
probably benign |
Het |
Dock2 |
A |
T |
11: 34,204,417 (GRCm39) |
M1375K |
probably benign |
Het |
Fa2h |
G |
A |
8: 112,074,659 (GRCm39) |
H315Y |
probably damaging |
Het |
Foxd2 |
G |
A |
4: 114,765,684 (GRCm39) |
P112L |
unknown |
Het |
Gin1 |
A |
G |
1: 97,712,897 (GRCm39) |
I317V |
probably benign |
Het |
Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
H2-T3 |
T |
A |
17: 36,500,744 (GRCm39) |
Y33F |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Il12rb1 |
G |
A |
8: 71,263,874 (GRCm39) |
W145* |
probably null |
Het |
Il6ra |
A |
G |
3: 89,785,219 (GRCm39) |
V330A |
probably benign |
Het |
Impdh2 |
T |
C |
9: 108,438,847 (GRCm39) |
S67P |
possibly damaging |
Het |
Ltbp3 |
T |
A |
19: 5,792,521 (GRCm39) |
S85T |
probably benign |
Het |
Magi3 |
A |
G |
3: 103,956,458 (GRCm39) |
|
probably null |
Het |
Mettl4 |
T |
A |
17: 95,034,806 (GRCm39) |
I430F |
probably damaging |
Het |
Mmd |
T |
A |
11: 90,167,579 (GRCm39) |
F203I |
probably damaging |
Het |
Nlgn1 |
T |
C |
3: 25,494,035 (GRCm39) |
T305A |
possibly damaging |
Het |
Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
Or2w1b |
A |
T |
13: 21,299,892 (GRCm39) |
H10L |
probably benign |
Het |
Or5b107 |
G |
A |
19: 13,142,888 (GRCm39) |
C170Y |
possibly damaging |
Het |
Pcdh12 |
T |
C |
18: 38,415,022 (GRCm39) |
H701R |
possibly damaging |
Het |
Pcgf3 |
G |
A |
5: 108,621,773 (GRCm39) |
|
probably null |
Het |
Pik3c2g |
G |
A |
6: 139,913,517 (GRCm39) |
V972M |
unknown |
Het |
Pink1 |
A |
G |
4: 138,041,323 (GRCm39) |
C563R |
possibly damaging |
Het |
Prol1 |
A |
T |
5: 88,466,426 (GRCm39) |
N3I |
probably benign |
Het |
Ptpro |
T |
G |
6: 137,363,288 (GRCm39) |
I474S |
probably damaging |
Het |
Rabgef1 |
A |
G |
5: 130,241,781 (GRCm39) |
E395G |
probably benign |
Het |
Rpgrip1l |
G |
T |
8: 91,987,391 (GRCm39) |
H889N |
possibly damaging |
Het |
Sapcd2 |
T |
A |
2: 25,262,925 (GRCm39) |
C161* |
probably null |
Het |
Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
Spen |
A |
G |
4: 141,196,275 (GRCm39) |
L3625P |
probably damaging |
Het |
Stil |
T |
C |
4: 114,878,701 (GRCm39) |
I379T |
probably benign |
Het |
Stim1 |
A |
G |
7: 102,078,014 (GRCm39) |
D172G |
|
Het |
Timm50 |
A |
G |
7: 28,010,350 (GRCm39) |
L68P |
probably damaging |
Het |
Tlr9 |
C |
T |
9: 106,100,723 (GRCm39) |
R5* |
probably null |
Het |
Top1mt |
A |
T |
15: 75,547,874 (GRCm39) |
Y71N |
probably damaging |
Het |
Trpv4 |
A |
G |
5: 114,771,285 (GRCm39) |
Y415H |
possibly damaging |
Het |
Try10 |
C |
T |
6: 41,331,041 (GRCm39) |
|
probably benign |
Het |
Uhrf2 |
A |
G |
19: 30,063,780 (GRCm39) |
E581G |
probably damaging |
Het |
Usp17lb |
G |
A |
7: 104,490,495 (GRCm39) |
T144I |
possibly damaging |
Het |
Vmn1r64 |
T |
C |
7: 5,886,859 (GRCm39) |
N228S |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
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 |
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 |
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'- TGTACCCTGTACCGATGCATG -3'
(R):5'- ACCCATCTGACACAGTTGCTG -3'
Sequencing Primer
(F):5'- GTACCGATGCATGCTCTTCTG -3'
(R):5'- TGTGCATCCTGGCTCCAAAG -3'
|
Posted On |
2022-10-06 |