Mutagenetix > Incidental Mutation

Incidental Mutation 'R0554:Itgav'

45323

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

038746-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0554 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

83554796-83637261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83624614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 735 (S735A)

Ref Sequence

ENSEMBL: ENSMUSP00000028499 (fasta)

Gene Model

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

AlphaFold

P43406

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028499
AA Change: S735A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028499
Gene: ENSMUSG00000027087
AA Change: S735A

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 benign
Transcript: ENSMUST00000111740
AA Change: S699A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107369
Gene: ENSMUSG00000027087
AA Change: S699A

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

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
1810024B03Rik	A	G	2: 127,029,196 (GRCm39)	M1T	probably null	Het
4930503L19Rik	T	C	18: 70,600,451 (GRCm39)	D386G	probably damaging	Het
Ace2	T	A	X: 162,958,947 (GRCm39)	N601K	probably benign	Het
Adam4	A	C	12: 81,468,198 (GRCm39)	I141R	probably damaging	Het
Adcy10	G	A	1: 165,340,699 (GRCm39)	G235S	probably benign	Het
Adcy5	G	A	16: 35,114,387 (GRCm39)	V997I	probably benign	Het
Aff2	T	G	X: 68,907,680 (GRCm39)	W1221G	possibly damaging	Het
Ankrd44	T	C	1: 54,802,917 (GRCm39)	N194D	probably benign	Het
Apba2	T	G	7: 64,395,528 (GRCm39)	L668R	probably damaging	Het
Asph	T	C	4: 9,604,581 (GRCm39)	D152G	probably damaging	Het
Bcl3	C	G	7: 19,553,991 (GRCm39)	V126L	probably benign	Het
Cd163	A	G	6: 124,289,619 (GRCm39)	T446A	probably benign	Het
Cd209g	C	T	8: 4,184,995 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,823,901 (GRCm39)	V197E	probably damaging	Het
CN725425	T	C	15: 91,144,966 (GRCm39)	C610R	possibly damaging	Het
Col6a2	A	G	10: 76,446,995 (GRCm39)		probably null	Het
Coro7	A	G	16: 4,450,121 (GRCm39)	L576P	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Dhx57	A	T	17: 80,567,665 (GRCm39)	L806*	probably null	Het
Dlec1	T	C	9: 118,944,070 (GRCm39)	V373A	probably benign	Het
Dnah11	G	T	12: 117,894,913 (GRCm39)	R3645S	probably benign	Het
Dnhd1	T	C	7: 105,343,602 (GRCm39)	S1649P	probably benign	Het
Draxin	T	G	4: 148,192,420 (GRCm39)	K297N	probably damaging	Het
Epha7	T	C	4: 28,951,401 (GRCm39)	S841P	probably damaging	Het
Esp8	T	G	17: 40,841,166 (GRCm39)	D142E	unknown	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Fancc	T	C	13: 63,465,283 (GRCm39)	S475G	probably benign	Het
Fmo3	T	C	1: 162,781,901 (GRCm39)	N484S	probably benign	Het
Focad	T	C	4: 88,267,126 (GRCm39)	Y1046H	unknown	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Fut8	A	T	12: 77,411,744 (GRCm39)	I69L	probably benign	Het
Gnai3	A	G	3: 108,030,928 (GRCm39)	I78T	probably benign	Het
Gpr182	T	C	10: 127,586,940 (GRCm39)	I4V	probably benign	Het
Gpr63	T	C	4: 25,007,447 (GRCm39)	M57T	probably benign	Het
Grm1	T	A	10: 10,595,667 (GRCm39)	T654S	probably benign	Het
Gtf2h4	T	C	17: 35,979,531 (GRCm39)	T371A	probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hmcn1	T	C	1: 150,594,868 (GRCm39)	N1867S	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iigp1c	G	A	18: 60,378,489 (GRCm39)	R8H	probably benign	Het
Inpp5j	A	G	11: 3,449,644 (GRCm39)	Y713H	probably damaging	Het
Ints6	A	T	14: 62,942,200 (GRCm39)	V511D	possibly damaging	Het
Irag2	G	A	6: 145,111,013 (GRCm39)	A237T	probably benign	Het
Itga4	A	G	2: 79,109,461 (GRCm39)	Y220C	probably damaging	Het
Kctd16	A	G	18: 40,391,492 (GRCm39)	I27V	probably benign	Het
Klhl6	T	C	16: 19,772,343 (GRCm39)	E334G	probably damaging	Het
Ltbp1	T	A	17: 75,532,274 (GRCm39)	L116H	probably damaging	Het
Magohb	T	A	6: 131,262,660 (GRCm39)	H98L	probably benign	Het
Mgat2	A	G	12: 69,232,166 (GRCm39)	T247A	probably benign	Het
Mtif2	G	A	11: 29,483,398 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,664,878 (GRCm39)	E384G	probably damaging	Het
Nfam1	G	T	15: 82,917,410 (GRCm39)	R8S	probably benign	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or14c46	A	T	7: 85,918,865 (GRCm39)	I44N	probably damaging	Het
Or2w3b	T	C	11: 58,623,865 (GRCm39)	N42S	probably damaging	Het
Or5m10b	T	C	2: 85,699,863 (GRCm39)	F309S	probably benign	Het
Or6c207	T	C	10: 129,104,368 (GRCm39)	T275A	probably benign	Het
Orc4	C	T	2: 48,795,433 (GRCm39)	S431N	probably benign	Het
Pax2	T	C	19: 44,750,300 (GRCm39)	V129A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,572 (GRCm39)	D268G	probably damaging	Het
Pdcd1	G	A	1: 93,967,107 (GRCm39)	R264C	probably damaging	Het
Pi15	T	A	1: 17,691,872 (GRCm39)	M187K	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plagl1	A	G	10: 13,002,926 (GRCm39)	T65A	probably benign	Het
Pramel51	T	C	12: 88,144,328 (GRCm39)	T162A	probably benign	Het
Prss48	T	A	3: 85,908,228 (GRCm39)	Q18L	probably benign	Het
Prune2	T	A	19: 17,102,582 (GRCm39)	C2580*	probably null	Het
Rab40b	T	A	11: 121,250,432 (GRCm39)	Q74L	probably damaging	Het
Raf1	A	G	6: 115,600,491 (GRCm39)	I376T	probably benign	Het
Rbm46	A	T	3: 82,772,575 (GRCm39)	F186I	probably damaging	Het
Reps1	C	T	10: 17,998,867 (GRCm39)	T720M	possibly damaging	Het
Rgs22	A	G	15: 36,054,855 (GRCm39)	M649T	probably benign	Het
Rhot1	C	T	11: 80,134,264 (GRCm39)	R47*	probably null	Het
Rhox2f	A	G	X: 36,753,124 (GRCm39)	Y8C	possibly damaging	Het
Rnf17	A	G	14: 56,760,007 (GRCm39)	Y1604C	probably damaging	Het
Rnf40	T	C	7: 127,201,756 (GRCm39)	C943R	probably damaging	Het
Ropn1l	A	T	15: 31,451,295 (GRCm39)	M63K	probably benign	Het
Sbf2	C	A	7: 110,027,494 (GRCm39)	V501F	probably damaging	Het
Sh3bp1	T	A	15: 78,791,467 (GRCm39)	M354K	probably damaging	Het
Sipa1l3	T	C	7: 29,087,455 (GRCm39)	H590R	possibly damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Sulf1	T	C	1: 12,875,418 (GRCm39)	Y143H	probably damaging	Het
Tiam2	A	T	17: 3,488,956 (GRCm39)	R755*	probably null	Het
Trim12c	C	A	7: 103,994,169 (GRCm39)	L228F	probably damaging	Het
Ttc23l	G	T	15: 10,530,743 (GRCm39)	Q290K	probably benign	Het
Uba3	T	C	6: 97,168,221 (GRCm39)		probably null	Het
Ugt1a10	A	G	1: 87,983,817 (GRCm39)	E205G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,206 (GRCm39)	S72T	probably benign	Het
Upk3bl	C	T	5: 136,088,648 (GRCm39)	T113I	probably damaging	Het
Uspl1	T	A	5: 149,124,644 (GRCm39)	D20E	probably damaging	Het
Vmn2r19	G	A	6: 123,313,102 (GRCm39)	G724E	probably damaging	Het
Vmn2r63	T	A	7: 42,583,129 (GRCm39)	K29*	probably null	Het
Vwf	C	T	6: 125,619,744 (GRCm39)	A1474V	probably benign	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het
Zfp536	T	C	7: 37,180,244 (GRCm39)	D787G	probably damaging	Het
Zfp692	A	G	11: 58,205,053 (GRCm39)	H434R	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	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
R0346:Itgav	UTSW	2	83,622,953 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTGCATTGCTTTCACTGGAACAAC -3'
(R):5'- ACTGAAGCCCTACCGATCAACCAATTAT -3'

Sequencing Primer
(F):5'- ATAGCCTCCATTATGACTTCAGTG -3'
(R):5'- tccatttccagcacccac -3'

Posted On

2013-06-11