Incidental Mutation 'R1566:Itgav'
ID 175245
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 039605-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1566 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 83554796-83637261 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83566974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 101 (F101L)
Ref Sequence ENSEMBL: ENSMUSP00000122730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028499] [ENSMUST00000111740] [ENSMUST00000141725]
AlphaFold P43406
Predicted Effect probably benign
Transcript: ENSMUST00000028499
AA Change: F102L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028499
Gene: ENSMUSG00000027087
AA Change: F102L

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: F102L

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107369
Gene: ENSMUSG00000027087
AA Change: F102L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125360
Predicted Effect probably damaging
Transcript: ENSMUST00000141725
AA Change: F101L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122730
Gene: ENSMUSG00000027087
AA Change: F101L

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Int_alpha 45 103 4.28e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155521
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Arhgef7 A G 8: 11,832,620 (GRCm39) T32A possibly damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Mmel1 C T 4: 154,968,110 (GRCm39) R149C probably damaging Het
Morc2b T A 17: 33,355,948 (GRCm39) H608L probably benign Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pcm1 T A 8: 41,743,810 (GRCm39) N1152K probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Ppfia3 T C 7: 44,990,112 (GRCm39) D1138G probably damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ugt8a T C 3: 125,669,207 (GRCm39) Y299C probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S possibly 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
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
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'- TGTGTCATTTGAAGTATCACCCGGC -3'
(R):5'- AGCAATGGAGACTCACAGAACTGC -3'

Sequencing Primer
(F):5'- GAAGTATCACCCGGCTTTTG -3'
(R):5'- agccatctctccagccc -3'
Posted On 2014-04-24