Mutagenetix > Incidental Mutation

Incidental Mutation 'R1840:Cdh5'

205707

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

039866-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1840 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104828257-104871143 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 104853248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 189 (Y189*)

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
AA Change: Y189*

SMART Domains

Protein: ENSMUSP00000034339
Gene: ENSMUSG00000031871
AA Change: Y189*

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

1x: 97.5%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	A	16: 21,472,236 (GRCm39)	M85L	probably benign	Het
Aatk	T	G	11: 119,904,558 (GRCm39)	D206A	probably damaging	Het
Agap3	A	G	5: 24,705,229 (GRCm39)	D719G	probably damaging	Het
Agrn	G	A	4: 156,251,872 (GRCm39)	R1797C	probably damaging	Het
Ascc3	T	A	10: 50,566,257 (GRCm39)	M734K	probably benign	Het
Asph	T	A	4: 9,601,340 (GRCm39)	M136L	possibly damaging	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atp2b1	A	G	10: 98,858,791 (GRCm39)	H1158R	probably benign	Het
Atxn7l1	A	G	12: 33,421,032 (GRCm39)		probably null	Het
BC024139	G	T	15: 76,004,842 (GRCm39)	S611R	probably benign	Het
Becn1	C	T	11: 101,186,392 (GRCm39)	G105S	probably damaging	Het
Bud13	A	G	9: 46,197,706 (GRCm39)	E70G	probably damaging	Het
Cacul1	A	T	19: 60,522,688 (GRCm39)	L282*	probably null	Het
Catspere2	A	G	1: 177,830,581 (GRCm39)	D30G	possibly damaging	Het
Ccar1	T	A	10: 62,599,289 (GRCm39)	K614M	probably damaging	Het
Cd96	T	C	16: 45,919,455 (GRCm39)	T189A	probably benign	Het
Chka	A	G	19: 3,936,460 (GRCm39)	N284S	probably benign	Het
Cntn6	A	T	6: 104,751,441 (GRCm39)	I366F	probably damaging	Het
Csmd3	C	T	15: 47,470,560 (GRCm39)	G3372E	probably damaging	Het
Cyp4f16	T	C	17: 32,761,980 (GRCm39)		probably null	Het
Dcaf6	A	G	1: 165,227,317 (GRCm39)	V270A	probably damaging	Het
Ddx60	T	A	8: 62,422,587 (GRCm39)	I608N	probably damaging	Het
Dnah9	A	T	11: 65,725,024 (GRCm39)	C1849*	probably null	Het
Eci3	C	A	13: 35,144,024 (GRCm39)	V34L	probably benign	Het
Eif1ad9	T	C	12: 88,296,181 (GRCm39)	V53A	probably benign	Het
Entrep2	C	A	7: 64,408,943 (GRCm39)	V484L	probably benign	Het
Epha1	C	T	6: 42,340,522 (GRCm39)	R583H	probably damaging	Het
Erbin	A	T	13: 103,971,455 (GRCm39)	N720K	probably benign	Het
Eya1	T	A	1: 14,299,728 (GRCm39)	R346*	probably null	Het
Fhdc1	G	A	3: 84,353,128 (GRCm39)	T699I	possibly damaging	Het
Flvcr2	T	C	12: 85,849,995 (GRCm39)	V427A	possibly damaging	Het
Frey1	T	C	2: 92,213,554 (GRCm39)	S36P	probably benign	Het
Fzd9	T	A	5: 135,278,425 (GRCm39)	T487S	probably benign	Het
Gas2l3	T	C	10: 89,258,113 (GRCm39)	Y160C	possibly damaging	Het
Gm10269	T	C	18: 20,815,866 (GRCm39)	K52R	probably damaging	Het
Gm8674	A	T	13: 50,055,801 (GRCm39)		noncoding transcript	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Gramd4	T	C	15: 86,014,393 (GRCm39)		probably null	Het
Gtpbp4	A	G	13: 9,029,500 (GRCm39)	L403P	probably benign	Het
H6pd	A	T	4: 150,066,507 (GRCm39)	D626E	possibly damaging	Het
Herc6	T	A	6: 57,635,091 (GRCm39)	L769*	probably null	Het
Hes5	A	G	4: 155,045,711 (GRCm39)	K58R	probably damaging	Het
Heyl	A	G	4: 123,135,183 (GRCm39)	I59V	probably damaging	Het
Hpca	A	G	4: 129,012,393 (GRCm39)	F48L	probably damaging	Het
Ice1	C	T	13: 70,754,337 (GRCm39)	R583Q	probably benign	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Kansl1l	T	A	1: 66,817,191 (GRCm39)	I390F	probably damaging	Het
Kat5	C	T	19: 5,659,266 (GRCm39)	V95M	possibly damaging	Het
Kcnh4	T	A	11: 100,636,167 (GRCm39)	I827F	possibly damaging	Het
Kif1b	C	T	4: 149,272,589 (GRCm39)	R138Q	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lats1	T	A	10: 7,586,703 (GRCm39)	L955*	probably null	Het
Ldlrad2	A	C	4: 137,299,495 (GRCm39)	C110G	possibly damaging	Het
Lgi3	G	A	14: 70,772,216 (GRCm39)		probably null	Het
Lingo1	A	G	9: 56,527,842 (GRCm39)	M249T	probably benign	Het
Lrig3	A	T	10: 125,849,258 (GRCm39)	R993*	probably null	Het
Lsm14b	T	A	2: 179,668,521 (GRCm39)	I74N	probably damaging	Het
Lyplal1	T	A	1: 185,832,414 (GRCm39)	I114F	probably damaging	Het
Mmp15	A	G	8: 96,092,048 (GRCm39)	Y86C	probably damaging	Het
Myh2	A	G	11: 67,077,313 (GRCm39)	E816G	probably benign	Het
Myo5c	A	G	9: 75,157,017 (GRCm39)	N151S	probably damaging	Het
Nckap1	T	A	2: 80,332,594 (GRCm39)	E1082V	possibly damaging	Het
Nrg4	A	C	9: 55,189,890 (GRCm39)		probably benign	Het
Nrp2	T	C	1: 62,777,498 (GRCm39)	L101P	probably damaging	Het
Or14j5	A	T	17: 38,161,639 (GRCm39)	D52V	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or4p19	T	C	2: 88,242,411 (GRCm39)	D197G	probably benign	Het
Or51q1c	A	G	7: 103,653,324 (GRCm39)	I281V	probably benign	Het
Or5ak22	G	A	2: 85,230,512 (GRCm39)	R122C	probably benign	Het
Parp14	T	A	16: 35,683,819 (GRCm39)	E169V	probably damaging	Het
Pcolce2	A	T	9: 95,552,256 (GRCm39)	N130Y	probably benign	Het
Pcolce2	G	A	9: 95,552,170 (GRCm39)	R101H	probably damaging	Het
Plscr1	A	T	9: 92,140,127 (GRCm39)	S5C	unknown	Het
Plxdc2	T	C	2: 16,674,667 (GRCm39)	V338A	probably benign	Het
Psg23	T	A	7: 18,344,363 (GRCm39)	N364I	possibly damaging	Het
Psmg4	A	G	13: 34,362,039 (GRCm39)	E109G	probably damaging	Het
Ptk2	T	C	15: 73,082,733 (GRCm39)	E908G	probably damaging	Het
Ptpn14	G	A	1: 189,519,048 (GRCm39)	R26H	probably damaging	Het
Ranbp2	T	A	10: 58,314,588 (GRCm39)	N1769K	probably benign	Het
Rbm14	C	T	19: 4,851,823 (GRCm39)		probably benign	Het
Rgs7	A	T	1: 174,980,714 (GRCm39)	D103E	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rock2	T	A	12: 16,978,990 (GRCm39)	D93E	probably benign	Het
Rps6ka6	A	G	X: 110,330,629 (GRCm39)	I246T	possibly damaging	Het
Rubcn	T	C	16: 32,646,542 (GRCm39)	M803V	possibly damaging	Het
Ryr3	T	C	2: 112,581,165 (GRCm39)	Y2889C	probably damaging	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Selplg	T	C	5: 113,957,905 (GRCm39)	T134A	possibly damaging	Het
Sez6	C	A	11: 77,844,543 (GRCm39)	T122N	possibly damaging	Het
Slc9b1	T	A	3: 135,063,229 (GRCm39)	D4E	unknown	Het
Smim18	A	G	8: 34,232,376 (GRCm39)	M81T	probably benign	Het
Snap91	A	T	9: 86,697,518 (GRCm39)	H281Q	probably damaging	Het
Sparc	C	A	11: 55,286,692 (GRCm39)	C302F	probably damaging	Het
Spg11	A	G	2: 121,932,237 (GRCm39)	L535P	probably damaging	Het
Spsb1	G	A	4: 149,991,088 (GRCm39)	T160I	probably damaging	Het
Stra6	A	G	9: 58,047,813 (GRCm39)	N128S	probably benign	Het
Strc	T	C	2: 121,209,777 (GRCm39)	E182G	probably damaging	Het
Sult2a6	A	G	7: 13,988,754 (GRCm39)	M2T	probably benign	Het
Sv2c	T	C	13: 96,118,352 (GRCm39)	N499S	probably benign	Het
Szt2	A	T	4: 118,222,854 (GRCm39)		probably benign	Het
Tbx20	A	T	9: 24,636,972 (GRCm39)	S372T	probably benign	Het
Tcp11l2	T	A	10: 84,440,463 (GRCm39)	S289T	probably damaging	Het
Tdrd1	A	G	19: 56,830,744 (GRCm39)	E259G	probably damaging	Het
Thsd7a	T	A	6: 12,330,973 (GRCm39)	I1390L	probably benign	Het
Tln2	G	A	9: 67,249,325 (GRCm39)	R921W	probably damaging	Het
Tmem126a	C	A	7: 90,102,092 (GRCm39)	G36*	probably null	Het
Tmem245	C	T	4: 56,903,947 (GRCm39)	V606I	probably benign	Het
Trpm6	A	G	19: 18,843,631 (GRCm39)	D1665G	probably benign	Het
Ubac2	T	G	14: 122,231,674 (GRCm39)	V200G	probably benign	Het
Ubr5	G	A	15: 37,981,161 (GRCm39)	A2372V	possibly damaging	Het
Ugcg	C	T	4: 59,219,517 (GRCm39)	P285S	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r118	T	A	17: 55,917,406 (GRCm39)	K369*	probably null	Het
Xpnpep3	G	T	15: 81,311,554 (GRCm39)	A87S	probably benign	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zdhhc11	A	G	13: 74,122,771 (GRCm39)	N169S	probably damaging	Het
Zfp62	T	A	11: 49,107,215 (GRCm39)	D435E	probably damaging	Het
Zfyve16	T	C	13: 92,648,033 (GRCm39)	D1007G	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCACTTTGTCCTCATGATGGC -3'
(R):5'- TCCTTCTCTGGATCAGTGGC -3'

Sequencing Primer
(F):5'- ATTCCCTCATCTTGGGCAGTAGG -3'
(R):5'- TGGCTGGTGACACCTATCAG -3'

Posted On

2014-06-23