Incidental Mutation 'R3880:Itgav'
ID 312770
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 040794-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3880 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 83554796-83637261 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83598645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 234 (V234A)
Ref Sequence ENSEMBL: ENSMUSP00000107369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028499] [ENSMUST00000111740]
AlphaFold P43406
Predicted Effect probably damaging
Transcript: ENSMUST00000028499
AA Change: V270A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028499
Gene: ENSMUSG00000027087
AA Change: V270A

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 probably damaging
Transcript: ENSMUST00000111740
AA Change: V234A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107369
Gene: ENSMUSG00000027087
AA Change: V234A

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
Meta Mutation Damage Score 0.6124 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 92% (35/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,584,959 (GRCm39) W872R probably damaging Het
Abcg3 T C 5: 105,086,046 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,583,824 (GRCm39) Q4627L probably benign Het
Armc2 T C 10: 41,839,721 (GRCm39) I415V possibly damaging Het
Atp1b1 C T 1: 164,270,874 (GRCm39) R35H probably benign Het
Bcas3 A G 11: 85,261,948 (GRCm39) M107V probably benign Het
Ccdc43 T C 11: 102,583,029 (GRCm39) probably null Het
Dtx4 A C 19: 12,463,820 (GRCm39) S321A probably benign Het
Enox1 A T 14: 77,848,826 (GRCm39) H379L possibly damaging Het
Evx1 A T 6: 52,290,846 (GRCm39) D6V probably damaging Het
Fubp1 T A 3: 151,926,133 (GRCm39) V286E probably damaging Het
Khdc3 T C 9: 73,010,872 (GRCm39) S241P possibly damaging Het
Lipc T A 9: 70,727,800 (GRCm39) I16F probably damaging Het
Mael T C 1: 166,064,437 (GRCm39) probably benign Het
Myo7b T G 18: 32,102,567 (GRCm39) E1487A probably damaging Het
Or52a33 T G 7: 103,288,831 (GRCm39) K172T probably benign Het
Osgin1 A G 8: 120,168,191 (GRCm39) H6R probably benign Het
Otog C T 7: 45,937,445 (GRCm39) T1718I possibly damaging Het
Otogl T C 10: 107,663,565 (GRCm39) E1002G probably damaging Het
Pkd1l1 T C 11: 8,911,983 (GRCm39) N241S unknown Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc6a2 C A 8: 93,716,846 (GRCm39) N337K probably damaging Het
Snx19 A T 9: 30,373,688 (GRCm39) Q917L probably damaging Het
Srsf3 T C 17: 29,255,257 (GRCm39) V14A probably damaging Het
Sspo G A 6: 48,471,874 (GRCm39) V4729I probably benign Het
Syngap1 T A 17: 27,172,038 (GRCm39) I82N probably damaging Het
Telo2 A T 17: 25,325,807 (GRCm39) M407K probably damaging Het
Thsd7b G A 1: 129,523,107 (GRCm39) G47D probably damaging Het
Tradd A T 8: 105,987,287 (GRCm39) N6K possibly damaging Het
Trim30a C A 7: 104,060,396 (GRCm39) C460F probably benign Het
Trip13 T C 13: 74,066,597 (GRCm39) Y318C probably damaging Het
Ubfd1 T A 7: 121,667,999 (GRCm39) probably benign Het
Uggt1 A G 1: 36,215,885 (GRCm39) probably benign Het
Wdr7 T A 18: 63,857,226 (GRCm39) C101S possibly damaging Het
Zfp345 T C 2: 150,314,075 (GRCm39) I487M 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
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
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'- TGGCTGCTAACATCTACCTCTG -3'
(R):5'- GTCAAAGTTGAGTGTCTTCATCC -3'

Sequencing Primer
(F):5'- ACATCTACCTCTGTATTTGTAAGGC -3'
(R):5'- TGTCTCTACACAGCACCAGGG -3'
Posted On 2015-04-30