Incidental Mutation 'IGL01412:Cdhr2'
| ID |
80061 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdhr2
|
| Ensembl Gene |
ENSMUSG00000034918 |
| Gene Name |
cadherin-related family member 2 |
| Synonyms |
Pcdh24, LOC268663 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL01412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
54849276-54884475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54873707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 687
(D687V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037145]
|
| AlphaFold |
E9Q7P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037145
AA Change: D687V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: D687V
| 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 |
|
| 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 |
|---|
| 6030458C11Rik |
G |
A |
15: 12,815,958 (GRCm39) |
Q222* |
probably null |
Het |
| Adamts2 |
A |
G |
11: 50,686,230 (GRCm39) |
E1016G |
probably benign |
Het |
| Agmo |
G |
A |
12: 37,452,140 (GRCm39) |
E269K |
possibly damaging |
Het |
| Agrn |
A |
T |
4: 156,255,491 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,473,621 (GRCm39) |
L794Q |
possibly damaging |
Het |
| Asb14 |
T |
A |
14: 26,637,022 (GRCm39) |
L588H |
probably damaging |
Het |
| Btbd16 |
A |
T |
7: 130,407,549 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,610,924 (GRCm39) |
K625E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,473 (GRCm39) |
D2499G |
probably damaging |
Het |
| Cops8 |
G |
T |
1: 90,532,153 (GRCm39) |
L45F |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,071,843 (GRCm39) |
H929R |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,492,962 (GRCm39) |
E1241G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,780,040 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,380,518 (GRCm39) |
I8V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,281,701 (GRCm39) |
V5435A |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,330 (GRCm39) |
I1408V |
probably benign |
Het |
| Fhit |
G |
T |
14: 9,870,065 (GRCm38) |
H72N |
probably damaging |
Het |
| Foxp2 |
C |
A |
6: 15,376,757 (GRCm39) |
|
probably benign |
Het |
| Fpgt |
T |
C |
3: 154,792,359 (GRCm39) |
Q556R |
probably benign |
Het |
| Galntl6 |
T |
A |
8: 58,230,328 (GRCm39) |
E30V |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,311 (GRCm39) |
V150D |
probably benign |
Het |
| Grm8 |
C |
T |
6: 27,762,460 (GRCm39) |
R255H |
probably damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,184 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 35,055,916 (GRCm39) |
L2609Q |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,021,731 (GRCm39) |
|
probably benign |
Het |
| Isx |
T |
C |
8: 75,619,306 (GRCm39) |
L166P |
probably benign |
Het |
| Kcnt2 |
G |
A |
1: 140,498,155 (GRCm39) |
M884I |
probably benign |
Het |
| Leo1 |
A |
G |
9: 75,373,524 (GRCm39) |
N650D |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,950,810 (GRCm39) |
V195A |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,200,988 (GRCm39) |
I215N |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,377,014 (GRCm39) |
*542R |
probably null |
Het |
| Mrgbp |
T |
A |
2: 180,225,209 (GRCm39) |
F55Y |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,362,527 (GRCm39) |
|
probably null |
Het |
| Nedd9 |
A |
T |
13: 41,469,262 (GRCm39) |
Y630* |
probably null |
Het |
| Nrp1 |
T |
C |
8: 129,145,188 (GRCm39) |
|
probably benign |
Het |
| Or4k15b |
A |
G |
14: 50,272,770 (GRCm39) |
I30T |
probably benign |
Het |
| Or51q1c |
T |
A |
7: 103,652,842 (GRCm39) |
M120K |
probably damaging |
Het |
| Or52z12 |
A |
G |
7: 103,234,114 (GRCm39) |
N295S |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,461 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,895 (GRCm39) |
C212S |
probably benign |
Het |
| Pcnx1 |
A |
T |
12: 81,953,239 (GRCm39) |
I127F |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,364,329 (GRCm39) |
E130G |
possibly damaging |
Het |
| Pkd1l1 |
G |
T |
11: 8,900,409 (GRCm39) |
T44N |
possibly damaging |
Het |
| Polr1c |
A |
G |
17: 46,555,135 (GRCm39) |
S226P |
probably damaging |
Het |
| Pramel28 |
A |
C |
4: 143,691,565 (GRCm39) |
V386G |
probably damaging |
Het |
| Prep |
A |
G |
10: 45,029,208 (GRCm39) |
Y536C |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,070,163 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,756,922 (GRCm39) |
K1577N |
probably benign |
Het |
| Selplg |
G |
T |
5: 113,957,529 (GRCm39) |
T33K |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,020,734 (GRCm39) |
I505L |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,718,413 (GRCm39) |
N548S |
probably damaging |
Het |
| Sp7 |
T |
C |
15: 102,267,798 (GRCm39) |
T3A |
possibly damaging |
Het |
| Tango6 |
T |
C |
8: 107,545,131 (GRCm39) |
V998A |
probably benign |
Het |
| Tas2r130 |
A |
T |
6: 131,607,473 (GRCm39) |
Y107* |
probably null |
Het |
| Tjp2 |
T |
C |
19: 24,078,139 (GRCm39) |
E918G |
probably damaging |
Het |
| Trim12a |
C |
T |
7: 103,956,202 (GRCm39) |
A113T |
probably benign |
Het |
| Zan |
T |
A |
5: 137,391,294 (GRCm39) |
D4730V |
unknown |
Het |
| Zfp607a |
A |
T |
7: 27,578,109 (GRCm39) |
D393V |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation