Incidental Mutation 'IGL02927:Itgav'
ID 363926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgav
Ensembl Gene ENSMUSG00000027087
Gene Name integrin alpha V
Synonyms 1110004F14Rik, D430040G12Rik, CD51, vitronectin receptor alpha polypeptide (VNRA), 2610028E01Rik, alphav-integrin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02927
Quality Score
Status
Chromosome 2
Chromosomal Location 83554796-83637261 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 83625884 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,347,729 (GRCm39) Q192* probably null Het
Actl7b C A 4: 56,740,609 (GRCm39) D250Y probably damaging Het
Akr1a1 T A 4: 116,495,180 (GRCm39) N273I probably damaging Het
Arhgap32 T A 9: 32,172,431 (GRCm39) I1737N possibly damaging Het
Cant1 T C 11: 118,301,888 (GRCm39) D143G probably benign Het
Cast T A 13: 74,885,113 (GRCm39) D295V probably damaging Het
Cdh1 A G 8: 107,395,143 (GRCm39) N851D probably damaging Het
Cntn1 G A 15: 92,189,561 (GRCm39) R628H probably benign Het
Cul4a A G 8: 13,174,861 (GRCm39) D279G possibly damaging Het
Cyp2s1 T C 7: 25,507,577 (GRCm39) K291E probably benign Het
Dhx35 A T 2: 158,662,336 (GRCm39) I205F probably damaging Het
Dpp8 G T 9: 64,967,551 (GRCm39) R518L probably benign Het
Gm9 A G X: 36,474,207 (GRCm39) I34T possibly damaging Het
Hmcn1 A T 1: 150,453,029 (GRCm39) C5429S probably damaging Het
Iqgap2 A C 13: 95,861,184 (GRCm39) L314R possibly damaging Het
Kcng4 G T 8: 120,353,061 (GRCm39) P283Q probably benign Het
Lrrn3 T A 12: 41,503,343 (GRCm39) I325F probably damaging Het
Lzts3 A G 2: 130,479,877 (GRCm39) probably benign Het
Marchf7 T C 2: 60,067,262 (GRCm39) I594T probably damaging Het
Matn2 A T 15: 34,355,801 (GRCm39) I269F probably damaging Het
Matn4 A G 2: 164,231,757 (GRCm39) F591S probably damaging Het
Mknk1 C T 4: 115,714,288 (GRCm39) R20C probably damaging Het
Mrgbp T C 2: 180,226,272 (GRCm39) V115A probably damaging Het
Mrgprb8 C T 7: 48,038,373 (GRCm39) Q15* probably null Het
Naa38 T C 11: 69,286,743 (GRCm39) L9P probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or13a19 T A 7: 139,902,654 (GRCm39) L14Q probably damaging Het
Or2y3 T A 17: 38,393,114 (GRCm39) M252L probably benign Het
Or9i2 G A 19: 13,816,288 (GRCm39) T83I probably benign Het
Pkd1 A G 17: 24,794,163 (GRCm39) N1950S probably damaging Het
Plagl2 A G 2: 153,074,199 (GRCm39) L234P probably damaging Het
Psmb11 C T 14: 54,863,108 (GRCm39) R109W probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rsbn1 A G 3: 103,869,668 (GRCm39) T710A probably benign Het
Shld2 T C 14: 33,989,658 (GRCm39) Y416C probably damaging Het
Slitrk4 A G X: 63,314,933 (GRCm39) I578T possibly damaging Het
Srgap1 T C 10: 121,691,367 (GRCm39) Y289C probably damaging Het
Stxbp2 A G 8: 3,692,685 (GRCm39) D579G possibly damaging Het
Tg T C 15: 66,549,942 (GRCm39) Y235H probably damaging Het
Thbs3 A G 3: 89,127,514 (GRCm39) N385S probably damaging Het
Trmo A G 4: 46,387,602 (GRCm39) S80P probably damaging Het
Ubc T C 5: 125,463,201 (GRCm39) K709E probably benign Het
Vstm4 C T 14: 32,659,745 (GRCm39) P296S probably damaging Het
Wdr11 G A 7: 129,208,822 (GRCm39) probably null Het
Wdr19 T C 5: 65,409,721 (GRCm39) I1153T possibly damaging Het
Xpo6 T C 7: 125,755,901 (GRCm39) E213G possibly damaging Het
Zxdc A C 6: 90,349,544 (GRCm39) T311P probably damaging Het
Other mutations in Itgav
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-12-18