Mutagenetix > Incidental Mutation

Incidental Mutation 'R6378:Cdh5'

515126

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

044528-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104828257-104871143 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 104853168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000034339

SMART Domains

Protein: ENSMUSP00000034339
Gene: ENSMUSG00000031871

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,995,774 (GRCm39)	D408E	probably benign	Het
Agpat2	T	C	2: 26,486,147 (GRCm39)	N178S	probably benign	Het
Arsi	T	C	18: 61,049,573 (GRCm39)	F152S	probably damaging	Het
Atp13a2	T	A	4: 140,734,367 (GRCm39)	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,733,072 (GRCm39)	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 57,095,579 (GRCm39)	L2P	probably damaging	Het
Cby3	A	G	11: 50,250,360 (GRCm39)	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,561 (GRCm39)	D567V	possibly damaging	Het
Cela1	C	T	15: 100,585,071 (GRCm39)	V20I	probably benign	Het
Cmpk2	G	A	12: 26,519,415 (GRCm39)	G22E	possibly damaging	Het
Ctcf	T	A	8: 106,390,423 (GRCm39)	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,339,468 (GRCm39)	C353F	probably damaging	Het
Efcab3	A	G	11: 104,999,620 (GRCm39)	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,830,420 (GRCm39)	Y10*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eml4	T	A	17: 83,755,646 (GRCm39)	W336R	probably damaging	Het
Erich6	T	C	3: 58,529,780 (GRCm39)		probably null	Het
Eya1	T	C	1: 14,373,027 (GRCm39)	N31D	possibly damaging	Het
Fam81a	T	A	9: 70,017,628 (GRCm39)	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,694,639 (GRCm39)	T487A	possibly damaging	Het
Ganc	T	C	2: 120,264,307 (GRCm39)	M420T	probably damaging	Het
Gimap7	A	T	6: 48,701,116 (GRCm39)	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,570,146 (GRCm39)	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,229,377 (GRCm39)	S98G	probably benign	Het
Hoxd10	T	C	2: 74,524,678 (GRCm39)	I330T	possibly damaging	Het
Ik	T	A	18: 36,890,341 (GRCm39)	I539N	probably damaging	Het
Il17rb	G	A	14: 29,722,320 (GRCm39)	T237I	probably damaging	Het
Ing2	T	A	8: 48,122,293 (GRCm39)	Q85L	probably benign	Het
Lrp4	C	A	2: 91,324,174 (GRCm39)	N1208K	probably benign	Het
Lvrn	T	A	18: 47,028,024 (GRCm39)	S888R	probably benign	Het
Map2	T	C	1: 66,454,488 (GRCm39)	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,677,233 (GRCm39)		probably null	Het
Mis18bp1	T	C	12: 65,196,021 (GRCm39)	D581G	probably benign	Het
Muc4	T	C	16: 32,599,320 (GRCm39)	V3289A	probably benign	Het
Myom2	T	A	8: 15,149,356 (GRCm39)	I609N	probably benign	Het
Nav1	A	T	1: 135,382,433 (GRCm39)	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,486,207 (GRCm39)	I302V	probably damaging	Het
Neb	T	A	2: 52,183,733 (GRCm39)	K978N	probably damaging	Het
Nol8	A	G	13: 49,820,831 (GRCm39)	E878G	probably damaging	Het
Nrde2	A	T	12: 100,097,016 (GRCm39)	I928N	probably damaging	Het
Nxf1	T	A	19: 8,741,910 (GRCm39)	D145E	probably benign	Het
Obox3	T	A	7: 15,360,027 (GRCm39)	H214L	probably benign	Het
Obscn	T	C	11: 58,964,572 (GRCm39)	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,093,761 (GRCm39)	E83G	probably benign	Het
Or11a4	T	A	17: 37,536,688 (GRCm39)	V224E	probably benign	Het
Or2r3	T	G	6: 42,448,687 (GRCm39)	M142L	probably benign	Het
Or6b2	A	G	1: 92,408,178 (GRCm39)	L55P	probably damaging	Het
Or8s8	T	C	15: 98,354,425 (GRCm39)	V78A	probably benign	Het
Pcsk4	G	T	10: 80,164,809 (GRCm39)	H69N	probably benign	Het
Plcl2	C	T	17: 50,975,188 (GRCm39)		probably null	Het
Pmfbp1	T	C	8: 110,256,898 (GRCm39)	I534T	probably damaging	Het
Prss23	A	T	7: 89,159,241 (GRCm39)	I276N	probably damaging	Het
Ramac	A	G	7: 81,417,387 (GRCm39)	Y29C	probably damaging	Het
Rhd	T	A	4: 134,621,696 (GRCm39)	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scg5	A	G	2: 113,657,737 (GRCm39)	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,315,102 (GRCm39)	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,610,245 (GRCm39)	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,894,613 (GRCm39)	L486*	probably null	Het
Slc25a47	G	A	12: 108,822,069 (GRCm39)	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,740,916 (GRCm39)	K277T	probably damaging	Het
Slc66a3	T	C	12: 17,047,644 (GRCm39)	Y96C	probably damaging	Het
Sorcs1	T	A	19: 50,213,615 (GRCm39)	E704V	possibly damaging	Het
Sptan1	T	C	2: 29,908,527 (GRCm39)	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,328,378 (GRCm39)		probably null	Het
Sytl2	A	T	7: 90,007,432 (GRCm39)	K65*	probably null	Het
Tas2r109	T	G	6: 132,957,844 (GRCm39)	I29L	probably benign	Het
Tfap2a	A	T	13: 40,876,717 (GRCm39)	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,325,679 (GRCm39)	L128F	probably benign	Het
Trappc12	A	T	12: 28,797,082 (GRCm39)	L150Q	probably damaging	Het
Trim43b	T	A	9: 88,967,452 (GRCm39)	I395L	probably benign	Het
U2surp	C	T	9: 95,373,474 (GRCm39)	E232K	probably benign	Het
Vax1	T	C	19: 59,154,656 (GRCm39)	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,210,587 (GRCm39)	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,547,782 (GRCm39)	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,498,667 (GRCm39)	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,182,517 (GRCm39)	G394D	probably damaging	Het
Ybx2	A	G	11: 69,831,179 (GRCm39)	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,308,410 (GRCm39)	N545K	probably benign	Het
Zp1	T	C	19: 10,892,217 (GRCm39)	T56A	probably benign	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
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
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'- ACCCAGACGTCACCTATGTTTC -3'
(R):5'- TCCATCCCTCCAAATGGGTAC -3'

Sequencing Primer
(F):5'- ACCTATGTTTCTCTCTCAAACCCAAC -3'
(R):5'- GGTACCCGCCCAAAAGG -3'

Posted On

2018-05-04