Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Itgav'

477890

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

040584-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83554796-83637261 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 83622915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 662 (C662*)

Ref Sequence

ENSEMBL: ENSMUSP00000107369 (fasta)

Gene Model

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

AlphaFold

P43406

Predicted Effect

probably null
Transcript: ENSMUST00000028499
AA Change: C698*

SMART Domains

Protein: ENSMUSP00000028499
Gene: ENSMUSG00000027087
AA Change: C698*

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 null
Transcript: ENSMUST00000111740
AA Change: C662*

SMART Domains

Protein: ENSMUSP00000107369
Gene: ENSMUSG00000027087
AA Change: C662*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Ebf1	T	A	11: 44,534,225 (GRCm39)		probably benign	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gm9932	A	T	5: 100,346,794 (GRCm39)		unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,075,863 (GRCm39)		probably benign	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	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
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
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

Posted On

2017-05-15