Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02927:Itgav'

363926

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgav

Ensembl Gene

ENSMUSG00000027087

Gene Name

integrin alpha V

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02927

Quality Score

Status

Chromosome

Chromosomal Location

83724397-83806916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83795540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 810 (Y810S)

Ref Sequence

ENSEMBL: ENSMUSP00000028499 (fasta)

Gene Model

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

AlphaFold

P43406

Predicted Effect

probably damaging
Transcript: ENSMUST00000028499
AA Change: Y810S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028499
Gene: ENSMUSG00000027087
AA Change: Y810S

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

possibly damaging
Transcript: ENSMUST00000111740
AA Change: Y774S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107369
Gene: ENSMUSG00000027087
AA Change: Y774S

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	G	A	17: 48,036,920	Q192*	probably null	Het
Actl7b	C	A	4: 56,740,609	D250Y	probably damaging	Het
Akr1a1	T	A	4: 116,637,983	N273I	probably damaging	Het
Arhgap32	T	A	9: 32,261,135	I1737N	possibly damaging	Het
Cant1	T	C	11: 118,411,062	D143G	probably benign	Het
Cast	T	A	13: 74,736,994	D295V	probably damaging	Het
Cdh1	A	G	8: 106,668,511	N851D	probably damaging	Het
Cntn1	G	A	15: 92,291,680	R628H	probably benign	Het
Cul4a	A	G	8: 13,124,861	D279G	possibly damaging	Het
Cyp2s1	T	C	7: 25,808,152	K291E	probably benign	Het
Dhx35	A	T	2: 158,820,416	I205F	probably damaging	Het
Dpp8	G	T	9: 65,060,269	R518L	probably benign	Het
Fam35a	T	C	14: 34,267,701	Y416C	probably damaging	Het
Gm9	A	G	X: 37,210,554	I34T	possibly damaging	Het
Hmcn1	A	T	1: 150,577,278	C5429S	probably damaging	Het
Iqgap2	A	C	13: 95,724,676	L314R	possibly damaging	Het
Kcng4	G	T	8: 119,626,322	P283Q	probably benign	Het
Lrrn3	T	A	12: 41,453,344	I325F	probably damaging	Het
Lzts3	A	G	2: 130,637,957		probably benign	Het
March7	T	C	2: 60,236,918	I594T	probably damaging	Het
Matn2	A	T	15: 34,355,655	I269F	probably damaging	Het
Matn4	A	G	2: 164,389,837	F591S	probably damaging	Het
Mknk1	C	T	4: 115,857,091	R20C	probably damaging	Het
Mrgbp	T	C	2: 180,584,479	V115A	probably damaging	Het
Mrgprb8	C	T	7: 48,388,625	Q15*	probably null	Het
Naa38	T	C	11: 69,395,917	L9P	probably damaging	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr131	T	A	17: 38,082,223	M252L	probably benign	Het
Olfr1501	G	A	19: 13,838,924	T83I	probably benign	Het
Olfr525	T	A	7: 140,322,741	L14Q	probably damaging	Het
Pkd1	A	G	17: 24,575,189	N1950S	probably damaging	Het
Plagl2	A	G	2: 153,232,279	L234P	probably damaging	Het
Psmb11	C	T	14: 54,625,651	R109W	probably damaging	Het
Rcc1	C	T	4: 132,337,756	R139H	probably benign	Het
Rsbn1	A	G	3: 103,962,352	T710A	probably benign	Het
Slitrk4	A	G	X: 64,271,327	I578T	possibly damaging	Het
Srgap1	T	C	10: 121,855,462	Y289C	probably damaging	Het
Stxbp2	A	G	8: 3,642,685	D579G	possibly damaging	Het
Tg	T	C	15: 66,678,093	Y235H	probably damaging	Het
Thbs3	A	G	3: 89,220,207	N385S	probably damaging	Het
Trmo	A	G	4: 46,387,602	S80P	probably damaging	Het
Ubc	T	C	5: 125,386,137	K709E	probably benign	Het
Vstm4	C	T	14: 32,937,788	P296S	probably damaging	Het
Wdr11	G	A	7: 129,607,098		probably null	Het
Wdr19	T	C	5: 65,252,378	I1153T	possibly damaging	Het
Xpo6	T	C	7: 126,156,729	E213G	possibly damaging	Het
Zxdc	A	C	6: 90,372,562	T311P	probably damaging	Het

Other mutations in Itgav

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Itgav	APN	2	83802995	missense	probably damaging	1.00
IGL01969:Itgav	APN	2	83803283	missense	probably damaging	1.00
IGL02371:Itgav	APN	2	83770053	missense	probably damaging	1.00
IGL02563:Itgav	APN	2	83771236	missense	probably benign
IGL02640:Itgav	APN	2	83791939	missense	probably benign	0.33
IGL02641:Itgav	APN	2	83768345	splice site	probably benign
IGL03172:Itgav	APN	2	83765846	missense	possibly damaging	0.51
R0158:Itgav	UTSW	2	83792037	missense	probably benign	0.33
R0346:Itgav	UTSW	2	83792609	missense	probably damaging	1.00
R0508:Itgav	UTSW	2	83792658	splice site	probably benign
R0546:Itgav	UTSW	2	83803242	missense	probably benign	0.04
R0554:Itgav	UTSW	2	83794270	missense	possibly damaging	0.95
R1122:Itgav	UTSW	2	83791939	missense	probably benign	0.33
R1468:Itgav	UTSW	2	83765901	splice site	probably benign
R1566:Itgav	UTSW	2	83736630	missense	probably damaging	1.00
R1657:Itgav	UTSW	2	83801779	missense	probably benign	0.21
R1892:Itgav	UTSW	2	83771336	missense	probably damaging	1.00
R1912:Itgav	UTSW	2	83795486	missense	possibly damaging	0.85
R2176:Itgav	UTSW	2	83803255	missense	probably damaging	1.00
R2438:Itgav	UTSW	2	83776542	missense	probably damaging	1.00
R2449:Itgav	UTSW	2	83768750	critical splice donor site	probably null
R3110:Itgav	UTSW	2	83792571	nonsense	probably null
R3112:Itgav	UTSW	2	83792571	nonsense	probably null
R3176:Itgav	UTSW	2	83776542	missense	probably damaging	1.00
R3177:Itgav	UTSW	2	83776542	missense	probably damaging	1.00
R3276:Itgav	UTSW	2	83776542	missense	probably damaging	1.00
R3277:Itgav	UTSW	2	83776542	missense	probably damaging	1.00
R3766:Itgav	UTSW	2	83801885	critical splice donor site	probably null
R3774:Itgav	UTSW	2	83791964	missense	probably damaging	1.00
R3880:Itgav	UTSW	2	83768301	missense	probably damaging	1.00
R4196:Itgav	UTSW	2	83768327	missense	probably benign	0.24
R4287:Itgav	UTSW	2	83724840	nonsense	probably null
R4620:Itgav	UTSW	2	83755902	missense	probably benign	0.07
R4790:Itgav	UTSW	2	83755810	missense	probably damaging	1.00
R4946:Itgav	UTSW	2	83788983	missense	probably benign	0.16
R6150:Itgav	UTSW	2	83776436	missense	probably benign
R6345:Itgav	UTSW	2	83802036	missense	probably damaging	1.00
R6482:Itgav	UTSW	2	83794270	missense	probably damaging	1.00
R6900:Itgav	UTSW	2	83803247	missense	probably damaging	1.00
R7247:Itgav	UTSW	2	83724835	missense	probably damaging	0.98
R7317:Itgav	UTSW	2	83794983	missense	probably benign	0.12
R7429:Itgav	UTSW	2	83794258	missense	probably damaging	1.00
R7430:Itgav	UTSW	2	83794258	missense	probably damaging	1.00
R7522:Itgav	UTSW	2	83802029	missense	probably benign	0.10
R7546:Itgav	UTSW	2	83776550	nonsense	probably null
R7578:Itgav	UTSW	2	83747875	missense	probably benign	0.16
R8311:Itgav	UTSW	2	83765777	missense	probably damaging	1.00
R8497:Itgav	UTSW	2	83785461	missense	probably damaging	1.00
R8744:Itgav	UTSW	2	83770083	missense	probably benign	0.25
R9752:Itgav	UTSW	2	83770107	critical splice donor site	probably null
V1662:Itgav	UTSW	2	83783854	missense	possibly damaging	0.91

Posted On

2015-12-18