Incidental Mutation 'IGL01459:Cdh5'
ID |
87929 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdh5
|
Ensembl Gene |
ENSMUSG00000031871 |
Gene Name |
cadherin 5 |
Synonyms |
VECD, CD144, VEcad, VEC, VE-cadherin, 7B4/cadherin-5, VE-Cad |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01459
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
104828257-104871143 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104864449 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 470
(D470V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034339]
|
AlphaFold |
P55284 |
PDB Structure |
NMR structure of mouse Par3-PDZ3 in complex with VE-Cadherin C-terminus [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034339
AA Change: D470V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034339 Gene: ENSMUSG00000031871 AA Change: D470V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
CA
|
66 |
147 |
3.03e-10 |
SMART |
CA
|
171 |
254 |
3.19e-18 |
SMART |
CA
|
278 |
370 |
7.92e-14 |
SMART |
CA
|
392 |
476 |
1.09e-16 |
SMART |
CA
|
499 |
583 |
2.16e-6 |
SMART |
transmembrane domain
|
598 |
620 |
N/A |
INTRINSIC |
Pfam:Cadherin_C
|
625 |
776 |
1.1e-43 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Mice lacking the encoded protein die in utero due to vascular insufficiency, caused by increased endothelial apoptosis. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Oct 2015] PHENOTYPE: Homozygous inactivation or cytosolic truncation of this gene causes embryonic growth retardation, abnormal somite and heart development, impaired remodeling and maturation of endothelial cells, increased endothelial apoptosis and severe vascular defects leading to embryonic death at midgestation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
Het |
Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
Other mutations in Cdh5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02506:Cdh5
|
APN |
8 |
104,864,454 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02737:Cdh5
|
APN |
8 |
104,869,560 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03287:Cdh5
|
APN |
8 |
104,854,747 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03297:Cdh5
|
APN |
8 |
104,854,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Cdh5
|
UTSW |
8 |
104,867,559 (GRCm39) |
missense |
probably benign |
|
R0015:Cdh5
|
UTSW |
8 |
104,867,559 (GRCm39) |
missense |
probably benign |
|
R0126:Cdh5
|
UTSW |
8 |
104,867,314 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0167:Cdh5
|
UTSW |
8 |
104,863,367 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0592:Cdh5
|
UTSW |
8 |
104,857,534 (GRCm39) |
splice site |
probably null |
|
R1760:Cdh5
|
UTSW |
8 |
104,854,801 (GRCm39) |
missense |
probably benign |
|
R1826:Cdh5
|
UTSW |
8 |
104,857,723 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1827:Cdh5
|
UTSW |
8 |
104,839,541 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1840:Cdh5
|
UTSW |
8 |
104,853,248 (GRCm39) |
nonsense |
probably null |
|
R1993:Cdh5
|
UTSW |
8 |
104,864,447 (GRCm39) |
missense |
probably damaging |
0.97 |
R2219:Cdh5
|
UTSW |
8 |
104,869,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2239:Cdh5
|
UTSW |
8 |
104,852,304 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2281:Cdh5
|
UTSW |
8 |
104,852,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R2380:Cdh5
|
UTSW |
8 |
104,852,304 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3418:Cdh5
|
UTSW |
8 |
104,856,002 (GRCm39) |
missense |
probably damaging |
0.98 |
R3419:Cdh5
|
UTSW |
8 |
104,856,002 (GRCm39) |
missense |
probably damaging |
0.98 |
R3429:Cdh5
|
UTSW |
8 |
104,857,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4491:Cdh5
|
UTSW |
8 |
104,839,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R4823:Cdh5
|
UTSW |
8 |
104,869,301 (GRCm39) |
missense |
probably benign |
0.00 |
R5071:Cdh5
|
UTSW |
8 |
104,867,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R5265:Cdh5
|
UTSW |
8 |
104,869,371 (GRCm39) |
missense |
probably benign |
0.00 |
R5383:Cdh5
|
UTSW |
8 |
104,864,479 (GRCm39) |
missense |
probably benign |
0.17 |
R5447:Cdh5
|
UTSW |
8 |
104,855,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R5580:Cdh5
|
UTSW |
8 |
104,852,126 (GRCm39) |
nonsense |
probably null |
|
R5876:Cdh5
|
UTSW |
8 |
104,869,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R5934:Cdh5
|
UTSW |
8 |
104,864,900 (GRCm39) |
missense |
probably benign |
0.00 |
R6378:Cdh5
|
UTSW |
8 |
104,853,168 (GRCm39) |
splice site |
probably null |
|
R7110:Cdh5
|
UTSW |
8 |
104,867,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R7141:Cdh5
|
UTSW |
8 |
104,839,633 (GRCm39) |
missense |
probably benign |
0.20 |
R7324:Cdh5
|
UTSW |
8 |
104,869,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R7658:Cdh5
|
UTSW |
8 |
104,856,033 (GRCm39) |
critical splice donor site |
probably null |
|
R7806:Cdh5
|
UTSW |
8 |
104,867,448 (GRCm39) |
missense |
probably damaging |
0.98 |
R7811:Cdh5
|
UTSW |
8 |
104,852,235 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7958:Cdh5
|
UTSW |
8 |
104,839,649 (GRCm39) |
missense |
probably benign |
0.01 |
R8270:Cdh5
|
UTSW |
8 |
104,839,672 (GRCm39) |
missense |
probably benign |
0.11 |
R8424:Cdh5
|
UTSW |
8 |
104,856,003 (GRCm39) |
missense |
probably benign |
0.00 |
R8432:Cdh5
|
UTSW |
8 |
104,839,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Cdh5
|
UTSW |
8 |
104,852,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9190:Cdh5
|
UTSW |
8 |
104,867,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R9738:Cdh5
|
UTSW |
8 |
104,863,329 (GRCm39) |
missense |
probably damaging |
0.99 |
X0067:Cdh5
|
UTSW |
8 |
104,869,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2013-11-18 |