Mutagenetix > Incidental Mutation

Incidental Mutation 'R0346:Itgav'

34244

Institutional Source

Beutler Lab

Gene Symbol

Itgav

Ensembl Gene

ENSMUSG00000027087

Gene Name

integrin alpha V

Synonyms

1110004F14Rik, D430040G12Rik, CD51, vitronectin receptor alpha polypeptide (VNRA), 2610028E01Rik, alphav-integrin

MMRRC Submission

038553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83554796-83637261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83622953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 675 (C675F)

Ref Sequence

ENSEMBL: ENSMUSP00000107369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028499] [ENSMUST00000111740]

AlphaFold

P43406

Predicted Effect

probably damaging
Transcript: ENSMUST00000028499
AA Change: C711F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028499
Gene: ENSMUSG00000027087
AA Change: C711F

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Int_alpha	45	104	1.05e-3	SMART
Int_alpha	248	298	4.9e-13	SMART
Int_alpha	302	363	4.55e-8	SMART
Int_alpha	366	422	2.2e-15	SMART
Int_alpha	430	484	1.62e-4	SMART
SCOP:d1m1xa2	629	767	3e-49	SMART
SCOP:d1m1xa3	768	982	1e-89	SMART
low complexity region	995	1008	N/A	INTRINSIC
Pfam:Integrin_alpha	1013	1027	3.9e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111740
AA Change: C675F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107369
Gene: ENSMUSG00000027087
AA Change: C675F

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Int_alpha	45	104	1.05e-3	SMART
Int_alpha	212	262	4.9e-13	SMART
Int_alpha	266	327	4.55e-8	SMART
Int_alpha	330	386	2.2e-15	SMART
Int_alpha	394	448	1.62e-4	SMART
SCOP:d1m1xa2	593	731	5e-49	SMART
SCOP:d1m1xa3	732	946	2e-89	SMART
low complexity region	959	972	N/A	INTRINSIC
Pfam:Integrin_alpha	977	991	1.3e-7	PFAM

Meta Mutation Damage Score

0.9730

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: This gene encodes a protein that is a member of the integrin superfamily. Integrins are transmembrane receptors involved cell adhesion and signaling, and they are subdivided based on the heterodimer formation of alpha and beta chains. This protein has been shown to heterodimerize with beta 1, beta 3, beta 6 and beta 8. The heterodimer of alpha v and beta 3 forms the Vitronectin receptor. This protein interacts with several extracellular matrix proteins to mediate cell adhesion and may play a role in cell migration. In mouse, deficiency of this gene is associated with defects in vascular morphogenesis in the brain and early post-natal death. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit placental defects, intracerebral and intestinal hemorrhages, and cleft palate, resulting in death occurring as early as midgestation and as late as shortly after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,516,278 (GRCm39)	I4406L	probably damaging	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Add3	C	T	19: 53,205,387 (GRCm39)	R46*	probably null	Het
Alas1	A	T	9: 106,120,550 (GRCm39)	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,429,567 (GRCm39)	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,582,479 (GRCm39)	R365*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
AU021092	T	C	16: 5,034,718 (GRCm39)	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Caln1	C	A	5: 130,851,762 (GRCm39)	H184N	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,759,315 (GRCm39)	V372A	probably damaging	Het
Ccng2	T	G	5: 93,418,753 (GRCm39)	I126S	probably damaging	Het
Cep85	A	T	4: 133,859,733 (GRCm39)	N643K	probably damaging	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,129,968 (GRCm39)		probably benign	Het
Cttn	A	T	7: 144,006,276 (GRCm39)		probably benign	Het
Dedd2	T	C	7: 24,910,694 (GRCm39)	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,153,132 (GRCm39)	D263G	probably damaging	Het
Dppa4	T	A	16: 48,109,687 (GRCm39)		probably benign	Het
Ear2	A	G	14: 44,340,363 (GRCm39)	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,345,452 (GRCm39)		probably benign	Het
Etl4	G	T	2: 20,764,463 (GRCm39)		probably null	Het
Fbxo15	T	A	18: 84,978,346 (GRCm39)		probably null	Het
Gm9970	A	G	5: 31,398,182 (GRCm39)		probably benign	Het
Hap1	A	G	11: 100,246,855 (GRCm39)	S17P	probably benign	Het
Hgd	C	T	16: 37,409,136 (GRCm39)		probably benign	Het
Ift56	T	C	6: 38,386,370 (GRCm39)	C364R	probably damaging	Het
Inpp5f	T	A	7: 128,292,392 (GRCm39)	L16Q	probably damaging	Het
Irag1	T	C	7: 110,498,183 (GRCm39)	D404G	probably damaging	Het
Islr2	G	A	9: 58,105,626 (GRCm39)	R545*	probably null	Het
Kif13a	T	A	13: 46,967,695 (GRCm39)	I403L	possibly damaging	Het
Kif14	T	A	1: 136,395,898 (GRCm39)	I68N	probably damaging	Het
Kif26a	G	T	12: 112,145,782 (GRCm39)	K1764N	probably null	Het
Lrrd1	C	A	5: 3,900,215 (GRCm39)	F173L	probably benign	Het
Mroh4	G	C	15: 74,486,141 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,248,864 (GRCm39)	V723A	probably benign	Het
Mybph	T	G	1: 134,125,492 (GRCm39)	I279S	probably damaging	Het
Myh4	A	T	11: 67,151,152 (GRCm39)	I1936L	probably benign	Het
Myo1h	A	T	5: 114,493,270 (GRCm39)	T704S	probably benign	Het
Nav2	C	A	7: 49,254,333 (GRCm39)	T2377K	probably benign	Het
Nipbl	T	G	15: 8,390,440 (GRCm39)	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 19,758,440 (GRCm39)	L559P	probably damaging	Het
Nup210l	T	A	3: 90,096,745 (GRCm39)	V1318E	probably damaging	Het
Or1e26	A	G	11: 73,480,283 (GRCm39)	Y94H	probably damaging	Het
Or4z4	A	T	19: 12,076,803 (GRCm39)	S67T	probably damaging	Het
Or6c8b	C	A	10: 128,882,342 (GRCm39)	V197F	possibly damaging	Het
Or7e178	A	G	9: 20,225,707 (GRCm39)	S170P	probably benign	Het
P2ry13	T	C	3: 59,116,987 (GRCm39)	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,198,710 (GRCm39)	L966P	probably benign	Het
Prss35	A	G	9: 86,637,404 (GRCm39)	K58R	probably benign	Het
Ptafr	T	A	4: 132,307,390 (GRCm39)	L260*	probably null	Het
Pum1	A	T	4: 130,507,116 (GRCm39)	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf145	A	G	11: 44,445,991 (GRCm39)	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,346,554 (GRCm39)	K218N	possibly damaging	Het
Rps6	T	C	4: 86,774,218 (GRCm39)	T128A	probably benign	Het
Ryr1	G	T	7: 28,767,013 (GRCm39)		probably benign	Het
Scel	A	T	14: 103,767,420 (GRCm39)	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,847,111 (GRCm39)	D57E	probably benign	Het
Slc35d1	A	C	4: 103,048,044 (GRCm39)	L240R	probably damaging	Het
Smcr8	A	G	11: 60,670,576 (GRCm39)	I575V	probably benign	Het
Spata31e4	T	C	13: 50,857,346 (GRCm39)	Y995H	probably benign	Het
Syk	G	A	13: 52,794,695 (GRCm39)	M476I	probably damaging	Het
Tbcel	A	T	9: 42,348,539 (GRCm39)		probably benign	Het
Tob2	C	A	15: 81,742,424 (GRCm39)	G65W	probably damaging	Het
Trim16	A	G	11: 62,731,520 (GRCm39)	N464D	probably benign	Het
Trim36	T	C	18: 46,332,776 (GRCm39)		probably benign	Het
Trpv4	C	A	5: 114,768,590 (GRCm39)		probably benign	Het
Tsga10	T	A	1: 37,879,600 (GRCm39)	T64S	possibly damaging	Het
Vars2	A	T	17: 35,975,756 (GRCm39)		probably benign	Het
Vmn1r72	C	A	7: 11,403,621 (GRCm39)	V276L	probably benign	Het
Vps13a	T	A	19: 16,655,333 (GRCm39)	K1898N	probably benign	Het
Vps18	A	G	2: 119,127,645 (GRCm39)	M823V	probably damaging	Het
Washc2	T	C	6: 116,197,484 (GRCm39)		probably benign	Het
Zfp763	A	T	17: 33,238,721 (GRCm39)	H141Q	probably benign	Het

Other mutations in Itgav

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Itgav	APN	2	83,633,339 (GRCm39)	missense	probably damaging	1.00
IGL01969:Itgav	APN	2	83,633,627 (GRCm39)	missense	probably damaging	1.00
IGL02371:Itgav	APN	2	83,600,397 (GRCm39)	missense	probably damaging	1.00
IGL02563:Itgav	APN	2	83,601,580 (GRCm39)	missense	probably benign
IGL02640:Itgav	APN	2	83,622,283 (GRCm39)	missense	probably benign	0.33
IGL02641:Itgav	APN	2	83,598,689 (GRCm39)	splice site	probably benign
IGL02927:Itgav	APN	2	83,625,884 (GRCm39)	missense	probably damaging	1.00
IGL03172:Itgav	APN	2	83,596,190 (GRCm39)	missense	possibly damaging	0.51
R0158:Itgav	UTSW	2	83,622,381 (GRCm39)	missense	probably benign	0.33
R0508:Itgav	UTSW	2	83,623,002 (GRCm39)	splice site	probably benign
R0546:Itgav	UTSW	2	83,633,586 (GRCm39)	missense	probably benign	0.04
R0554:Itgav	UTSW	2	83,624,614 (GRCm39)	missense	possibly damaging	0.95
R1122:Itgav	UTSW	2	83,622,283 (GRCm39)	missense	probably benign	0.33
R1468:Itgav	UTSW	2	83,596,245 (GRCm39)	splice site	probably benign
R1566:Itgav	UTSW	2	83,566,974 (GRCm39)	missense	probably damaging	1.00
R1657:Itgav	UTSW	2	83,632,123 (GRCm39)	missense	probably benign	0.21
R1892:Itgav	UTSW	2	83,601,680 (GRCm39)	missense	probably damaging	1.00
R1912:Itgav	UTSW	2	83,625,830 (GRCm39)	missense	possibly damaging	0.85
R2176:Itgav	UTSW	2	83,633,599 (GRCm39)	missense	probably damaging	1.00
R2438:Itgav	UTSW	2	83,606,886 (GRCm39)	missense	probably damaging	1.00
R2449:Itgav	UTSW	2	83,599,094 (GRCm39)	critical splice donor site	probably null
R3110:Itgav	UTSW	2	83,622,915 (GRCm39)	nonsense	probably null
R3112:Itgav	UTSW	2	83,622,915 (GRCm39)	nonsense	probably null
R3176:Itgav	UTSW	2	83,606,886 (GRCm39)	missense	probably damaging	1.00
R3177:Itgav	UTSW	2	83,606,886 (GRCm39)	missense	probably damaging	1.00
R3276:Itgav	UTSW	2	83,606,886 (GRCm39)	missense	probably damaging	1.00
R3277:Itgav	UTSW	2	83,606,886 (GRCm39)	missense	probably damaging	1.00
R3766:Itgav	UTSW	2	83,632,229 (GRCm39)	critical splice donor site	probably null
R3774:Itgav	UTSW	2	83,622,308 (GRCm39)	missense	probably damaging	1.00
R3880:Itgav	UTSW	2	83,598,645 (GRCm39)	missense	probably damaging	1.00
R4196:Itgav	UTSW	2	83,598,671 (GRCm39)	missense	probably benign	0.24
R4287:Itgav	UTSW	2	83,555,184 (GRCm39)	nonsense	probably null
R4620:Itgav	UTSW	2	83,586,246 (GRCm39)	missense	probably benign	0.07
R4790:Itgav	UTSW	2	83,586,154 (GRCm39)	missense	probably damaging	1.00
R4946:Itgav	UTSW	2	83,619,327 (GRCm39)	missense	probably benign	0.16
R6150:Itgav	UTSW	2	83,606,780 (GRCm39)	missense	probably benign
R6345:Itgav	UTSW	2	83,632,380 (GRCm39)	missense	probably damaging	1.00
R6482:Itgav	UTSW	2	83,624,614 (GRCm39)	missense	probably damaging	1.00
R6900:Itgav	UTSW	2	83,633,591 (GRCm39)	missense	probably damaging	1.00
R7247:Itgav	UTSW	2	83,555,179 (GRCm39)	missense	probably damaging	0.98
R7317:Itgav	UTSW	2	83,625,327 (GRCm39)	missense	probably benign	0.12
R7429:Itgav	UTSW	2	83,624,602 (GRCm39)	missense	probably damaging	1.00
R7430:Itgav	UTSW	2	83,624,602 (GRCm39)	missense	probably damaging	1.00
R7522:Itgav	UTSW	2	83,632,373 (GRCm39)	missense	probably benign	0.10
R7546:Itgav	UTSW	2	83,606,894 (GRCm39)	nonsense	probably null
R7578:Itgav	UTSW	2	83,578,219 (GRCm39)	missense	probably benign	0.16
R8311:Itgav	UTSW	2	83,596,121 (GRCm39)	missense	probably damaging	1.00
R8497:Itgav	UTSW	2	83,615,805 (GRCm39)	missense	probably damaging	1.00
R8744:Itgav	UTSW	2	83,600,427 (GRCm39)	missense	probably benign	0.25
R9752:Itgav	UTSW	2	83,600,451 (GRCm39)	critical splice donor site	probably null
V1662:Itgav	UTSW	2	83,614,198 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTACATGCAGCAGTGGTCCACAG -3'
(R):5'- AGCGGTAGGGCATTTTCCAAGC -3'

Sequencing Primer
(F):5'- GTCCACAGCCCCGACTTC -3'
(R):5'- ATGTGCAAGGTCCTGGC -3'

Posted On

2013-05-09