Incidental Mutation 'IGL00780:Itgb5'
ID 11508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgb5
Ensembl Gene ENSMUSG00000022817
Gene Name integrin beta 5
Synonyms beta5, [b]5B, [b]5, ESTM23, [b]-5, [b]5A, beta-5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00780
Quality Score
Status
Chromosome 16
Chromosomal Location 33650035-33769708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33705345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 212 (V212I)
Ref Sequence ENSEMBL: ENSMUSP00000110680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069345] [ENSMUST00000115028]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069345
AA Change: V212I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: V212I

DomainStartEndE-ValueType
PSI 27 76 1.4e-7 SMART
INB 35 463 1.18e-284 SMART
VWA 137 372 5.95e-7 SMART
internal_repeat_1 492 549 3.16e-7 PROSPERO
EGF 554 586 1.95e1 SMART
Integrin_B_tail 635 719 1.56e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115028
AA Change: V212I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: V212I

DomainStartEndE-ValueType
PSI 27 76 1.4e-7 SMART
INB 35 463 1.18e-284 SMART
VWA 137 372 5.95e-7 SMART
internal_repeat_1 492 549 3.16e-7 PROSPERO
EGF 554 586 1.95e1 SMART
Integrin_B_tail 635 719 1.56e-21 SMART
Integrin_b_cyt 743 790 5.97e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134262
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation do not appear to differ from normal in respect to development, reproduction, adenovirus infection, or wound healing. Mutant keratinocytes do show reduced migration on, and adhesion to, vitronectin in vitro. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,423,168 (GRCm39) D440G probably null Het
Acvrl1 T A 15: 101,035,248 (GRCm39) F258Y probably damaging Het
Ano1 A G 7: 144,209,367 (GRCm39) S278P probably damaging Het
Aoc1l3 A G 6: 48,964,673 (GRCm39) D227G probably damaging Het
AW146154 T C 7: 41,129,883 (GRCm39) Y411C probably damaging Het
Blnk T A 19: 40,922,890 (GRCm39) K412M probably benign Het
Clpb C T 7: 101,427,815 (GRCm39) R387* probably null Het
Dach1 A T 14: 98,138,858 (GRCm39) N528K possibly damaging Het
Dag1 A T 9: 108,086,818 (GRCm39) W108R probably damaging Het
Elapor2 A G 5: 9,472,367 (GRCm39) T355A probably damaging Het
Fbn2 T C 18: 58,229,060 (GRCm39) T717A probably damaging Het
Fnbp1l T C 3: 122,342,898 (GRCm39) D394G possibly damaging Het
Gaa T A 11: 119,165,117 (GRCm39) probably null Het
Gpr158 A T 2: 21,831,629 (GRCm39) K910* probably null Het
Grb14 G A 2: 64,745,062 (GRCm39) P99S probably damaging Het
Gtf2h2 T C 13: 100,615,729 (GRCm39) D264G probably benign Het
Heatr3 A G 8: 88,897,568 (GRCm39) I667V probably benign Het
Hsp90ab1 T C 17: 45,880,490 (GRCm39) N407S probably damaging Het
Htr2a A T 14: 74,943,645 (GRCm39) L408F possibly damaging Het
Kmt2c G A 5: 25,516,049 (GRCm39) T2598I probably benign Het
Lcorl T C 5: 45,904,637 (GRCm39) N137S probably damaging Het
Lef1 T C 3: 130,986,779 (GRCm39) F212L possibly damaging Het
Map2k5 T C 9: 63,188,359 (GRCm39) probably benign Het
Med15 G A 16: 17,471,351 (GRCm39) T642I probably damaging Het
Nasp C A 4: 116,461,196 (GRCm39) E274* probably null Het
Nup210l A T 3: 90,098,156 (GRCm39) probably benign Het
Pgghg T C 7: 140,525,264 (GRCm39) probably null Het
Plpp1 A G 13: 112,988,040 (GRCm39) I54M probably damaging Het
Poldip3 C T 15: 83,022,680 (GRCm39) G35R probably damaging Het
Ppig A T 2: 69,563,268 (GRCm39) E81D possibly damaging Het
Ptpn21 G T 12: 98,646,630 (GRCm39) T999K probably damaging Het
Rad9b T C 5: 122,482,310 (GRCm39) I142V probably benign Het
Ralgps1 A T 2: 33,163,639 (GRCm39) H139Q probably damaging Het
Rdh16f2 T C 10: 127,710,961 (GRCm39) probably null Het
Sema3d G A 5: 12,574,293 (GRCm39) R265Q probably damaging Het
Tdp1 T C 12: 99,859,907 (GRCm39) V198A possibly damaging Het
Trim43c A T 9: 88,723,909 (GRCm39) D145V probably benign Het
Trpc4 C T 3: 54,209,596 (GRCm39) P654S probably damaging Het
Yy1 T G 12: 108,781,463 (GRCm39) I376S probably damaging Het
Zfp773 T A 7: 7,136,113 (GRCm39) Q161L probably benign Het
Other mutations in Itgb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Itgb5 APN 16 33,740,359 (GRCm39) missense probably benign 0.00
IGL01620:Itgb5 APN 16 33,740,168 (GRCm39) missense probably damaging 1.00
IGL02332:Itgb5 APN 16 33,740,500 (GRCm39) nonsense probably null
IGL02869:Itgb5 APN 16 33,665,362 (GRCm39) missense possibly damaging 0.94
IGL02881:Itgb5 APN 16 33,740,275 (GRCm39) missense probably benign 0.00
IGL02941:Itgb5 APN 16 33,764,465 (GRCm39) splice site probably benign
IGL03216:Itgb5 APN 16 33,723,208 (GRCm39) missense probably benign 0.38
IGL03351:Itgb5 APN 16 33,730,922 (GRCm39) missense probably benign 0.00
PIT4812001:Itgb5 UTSW 16 33,740,357 (GRCm39) missense probably damaging 1.00
R0744:Itgb5 UTSW 16 33,720,953 (GRCm39) missense probably damaging 0.99
R0829:Itgb5 UTSW 16 33,764,571 (GRCm39) missense probably benign 0.29
R0836:Itgb5 UTSW 16 33,720,953 (GRCm39) missense probably damaging 0.99
R1387:Itgb5 UTSW 16 33,720,885 (GRCm39) nonsense probably null
R1703:Itgb5 UTSW 16 33,730,870 (GRCm39) missense probably benign 0.01
R1783:Itgb5 UTSW 16 33,760,932 (GRCm39) missense probably benign 0.13
R1826:Itgb5 UTSW 16 33,685,930 (GRCm39) missense possibly damaging 0.48
R1889:Itgb5 UTSW 16 33,730,839 (GRCm39) missense probably damaging 1.00
R2374:Itgb5 UTSW 16 33,740,168 (GRCm39) missense probably damaging 1.00
R4307:Itgb5 UTSW 16 33,769,102 (GRCm39) missense possibly damaging 0.80
R4355:Itgb5 UTSW 16 33,665,367 (GRCm39) missense probably damaging 0.98
R4796:Itgb5 UTSW 16 33,705,391 (GRCm39) missense possibly damaging 0.83
R4879:Itgb5 UTSW 16 33,696,348 (GRCm39) missense probably damaging 1.00
R6165:Itgb5 UTSW 16 33,719,612 (GRCm39) missense probably benign 0.01
R6584:Itgb5 UTSW 16 33,705,400 (GRCm39) missense probably damaging 1.00
R6617:Itgb5 UTSW 16 33,766,962 (GRCm39) missense probably benign 0.01
R6748:Itgb5 UTSW 16 33,719,667 (GRCm39) missense probably damaging 1.00
R6979:Itgb5 UTSW 16 33,740,356 (GRCm39) missense probably damaging 1.00
R7090:Itgb5 UTSW 16 33,705,464 (GRCm39) missense probably damaging 1.00
R7150:Itgb5 UTSW 16 33,761,013 (GRCm39) missense probably benign 0.03
R7403:Itgb5 UTSW 16 33,723,163 (GRCm39) critical splice acceptor site probably null
R7418:Itgb5 UTSW 16 33,705,464 (GRCm39) missense probably damaging 1.00
R7719:Itgb5 UTSW 16 33,740,486 (GRCm39) missense probably benign 0.01
R8309:Itgb5 UTSW 16 33,685,923 (GRCm39) missense probably benign 0.00
R8347:Itgb5 UTSW 16 33,761,048 (GRCm39) missense probably damaging 1.00
R8856:Itgb5 UTSW 16 33,720,962 (GRCm39) missense probably damaging 1.00
R9100:Itgb5 UTSW 16 33,740,551 (GRCm39) missense possibly damaging 0.91
R9194:Itgb5 UTSW 16 33,720,881 (GRCm39) missense probably damaging 1.00
R9309:Itgb5 UTSW 16 33,740,416 (GRCm39) missense probably benign 0.00
R9343:Itgb5 UTSW 16 33,730,826 (GRCm39) splice site probably benign
R9629:Itgb5 UTSW 16 33,696,295 (GRCm39) missense probably damaging 1.00
R9683:Itgb5 UTSW 16 33,740,335 (GRCm39) missense probably damaging 0.97
R9710:Itgb5 UTSW 16 33,685,917 (GRCm39) missense probably benign 0.00
X0022:Itgb5 UTSW 16 33,665,420 (GRCm39) missense possibly damaging 0.82
Posted On 2012-12-06