Incidental Mutation 'R2239:Cdh5'
| ID |
240543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh5
|
| Ensembl Gene |
ENSMUSG00000031871 |
| Gene Name |
cadherin 5 |
| Synonyms |
VECD, CD144, VEcad, VEC, VE-cadherin, 7B4/cadherin-5, VE-Cad |
| MMRRC Submission |
040239-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
104828257-104871143 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104852304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 140
(H140N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000034339
AA Change: H140N
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034339
Gene: ENSMUSG00000031871
AA Change: H140N
| 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 |
|
| Meta Mutation Damage Score |
0.1005 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
94% (68/72) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,136,303 (GRCm39) |
E406G |
probably benign |
Het |
| Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
| Arhgap36 |
G |
T |
X: 48,582,282 (GRCm39) |
V60L |
possibly damaging |
Het |
| Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,384,584 (GRCm39) |
I127K |
possibly damaging |
Het |
| Atp8b3 |
A |
G |
10: 80,366,822 (GRCm39) |
C259R |
probably damaging |
Het |
| Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
| Ccdc47 |
G |
T |
11: 106,092,960 (GRCm39) |
N100K |
possibly damaging |
Het |
| Cd200r4 |
T |
A |
16: 44,641,260 (GRCm39) |
M1K |
probably null |
Het |
| Cdc37 |
G |
A |
9: 21,053,829 (GRCm39) |
Q176* |
probably null |
Het |
| Cep128 |
T |
C |
12: 91,314,341 (GRCm39) |
T146A |
probably benign |
Het |
| Cnnm4 |
T |
A |
1: 36,544,759 (GRCm39) |
S673T |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,496,149 (GRCm39) |
I342V |
probably benign |
Het |
| Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
| Dars2 |
T |
C |
1: 160,890,852 (GRCm39) |
T120A |
possibly damaging |
Het |
| Dnah7b |
C |
A |
1: 46,240,344 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,311,359 (GRCm39) |
D394G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,601 (GRCm39) |
N518S |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,707,557 (GRCm39) |
|
probably benign |
Het |
| Fam186a |
C |
T |
15: 99,852,745 (GRCm39) |
V158M |
unknown |
Het |
| Fryl |
A |
G |
5: 73,265,890 (GRCm39) |
L477P |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,152,057 (GRCm39) |
I30T |
probably benign |
Het |
| Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
| Htatsf1 |
G |
T |
X: 56,111,864 (GRCm39) |
D642Y |
unknown |
Het |
| Ift88 |
A |
G |
14: 57,692,961 (GRCm39) |
I387V |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,054,493 (GRCm39) |
M484L |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
| Kdm6a |
T |
C |
X: 18,065,476 (GRCm39) |
F104S |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,941,733 (GRCm39) |
V1809A |
possibly damaging |
Het |
| Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
| Map3k1 |
A |
C |
13: 111,885,478 (GRCm39) |
S1480A |
probably benign |
Het |
| Map7 |
A |
T |
10: 20,154,028 (GRCm39) |
N715Y |
unknown |
Het |
| Morn4 |
A |
G |
19: 42,066,471 (GRCm39) |
Y39H |
possibly damaging |
Het |
| Myh14 |
A |
T |
7: 44,314,607 (GRCm39) |
D105E |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,510,760 (GRCm39) |
|
probably benign |
Het |
| Nfe2l2 |
G |
A |
2: 75,506,898 (GRCm39) |
P401S |
probably benign |
Het |
| Nt5c1b |
C |
A |
12: 10,425,558 (GRCm39) |
T309K |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,805,814 (GRCm39) |
D192G |
probably damaging |
Het |
| Or2aa1 |
A |
G |
11: 59,480,097 (GRCm39) |
S273P |
possibly damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,738 (GRCm39) |
I45F |
probably damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
| P4hb |
A |
G |
11: 120,454,108 (GRCm39) |
Y329H |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,826,378 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,414,754 (GRCm39) |
N105I |
probably damaging |
Het |
| Pde4a |
G |
A |
9: 21,122,564 (GRCm39) |
C820Y |
probably damaging |
Het |
| Phka2 |
A |
G |
X: 159,324,408 (GRCm39) |
E254G |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,817,605 (GRCm39) |
E138G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
| Slc16a8 |
T |
C |
15: 79,137,147 (GRCm39) |
M88V |
probably damaging |
Het |
| Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
| Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
| Spata4 |
A |
C |
8: 55,055,664 (GRCm39) |
K185T |
probably benign |
Het |
| Spin2c |
A |
G |
X: 152,616,672 (GRCm39) |
I162V |
probably damaging |
Het |
| Stac |
G |
A |
9: 111,519,190 (GRCm39) |
|
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,715,513 (GRCm39) |
D94G |
probably benign |
Het |
| Tnfsf11 |
A |
T |
14: 78,537,421 (GRCm39) |
S81T |
possibly damaging |
Het |
| Topaz1 |
C |
T |
9: 122,600,212 (GRCm39) |
T984I |
probably benign |
Het |
| Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,308,411 (GRCm39) |
T2020K |
probably benign |
Het |
| Zan |
G |
A |
5: 137,456,099 (GRCm39) |
Q1354* |
probably null |
Het |
| Zpld2 |
A |
C |
4: 133,929,516 (GRCm39) |
M263R |
unknown |
Het |
|
| Other mutations in Cdh5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Cdh5
|
APN |
8 |
104,864,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCAAGTCCAACGTGAACCG -3'
(R):5'- CTTCCTTGAGCTTACTGGAGC -3'
Sequencing Primer
(F):5'- GCCAGAATGCTAAGTATGTGCTCC -3'
(R):5'- TTACTGGAGCCTGACCCTAAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation