Incidental Mutation 'R0744:Itgb5'
ID 70891
Institutional Source Beutler Lab
Gene Symbol Itgb5
Ensembl Gene ENSMUSG00000022817
Gene Name integrin beta 5
Synonyms beta5, [b]5B, [b]5, ESTM23, [b]-5, [b]5A, beta-5
MMRRC Submission 038925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0744 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 33650035-33769708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33720953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 339 (K339R)
Ref Sequence ENSEMBL: ENSMUSP00000069416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069345] [ENSMUST00000115028] [ENSMUST00000232262]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069345
AA Change: K339R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: K339R

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: K339R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: K339R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148462
Predicted Effect probably damaging
Transcript: ENSMUST00000232262
AA Change: K26R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.4881 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (91/93)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
A930003A15Rik T C 16: 19,702,622 (GRCm39) noncoding transcript Het
Abca8a A T 11: 109,931,390 (GRCm39) D1253E possibly damaging Het
Acsm3 T C 7: 119,376,323 (GRCm39) I350T possibly damaging Het
Adcy9 T C 16: 4,237,135 (GRCm39) D92G possibly damaging Het
Aebp2 T G 6: 140,588,090 (GRCm39) probably null Het
AI987944 T C 7: 41,026,283 (GRCm39) Y6C probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Baiap2l1 T A 5: 144,203,451 (GRCm39) D479V probably benign Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Bptf C A 11: 107,001,638 (GRCm39) probably null Het
Camk4 G T 18: 33,072,507 (GRCm39) S20I unknown Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Ccnt2 T A 1: 127,730,131 (GRCm39) M336K probably benign Het
Cd209e G T 8: 3,903,205 (GRCm39) D62E probably benign Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Crtc1 A G 8: 70,845,663 (GRCm39) V306A probably benign Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
Dmxl1 T C 18: 49,966,215 (GRCm39) V20A probably damaging Het
Dzip3 A G 16: 48,780,038 (GRCm39) Y301H probably damaging Het
Ephb4 T A 5: 137,363,929 (GRCm39) N600K probably damaging Het
Erich6 T A 3: 58,543,543 (GRCm39) probably benign Het
Fbn1 T C 2: 125,156,734 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Galnt17 T A 5: 131,179,754 (GRCm39) D131V probably damaging Het
Gm6619 T A 6: 131,467,297 (GRCm39) L54Q probably damaging Het
Herc2 T C 7: 55,855,784 (GRCm39) probably benign Het
Hic1 T A 11: 75,056,627 (GRCm39) Q754L possibly damaging Het
Hnf4g A T 3: 3,716,689 (GRCm39) D286V possibly damaging Het
Iho1 A T 9: 108,282,000 (GRCm39) C563S probably benign Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lamp1 T A 8: 13,222,654 (GRCm39) F279L probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc58 A G 16: 37,698,935 (GRCm39) probably benign Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mark1 T A 1: 184,653,805 (GRCm39) I166F probably damaging Het
Mark2 A G 19: 7,263,189 (GRCm39) Y193H probably damaging Het
Mast4 C G 13: 102,873,895 (GRCm39) Q1632H probably damaging Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Mgst3 A G 1: 167,201,374 (GRCm39) Y104H probably damaging Het
Mlxipl C T 5: 135,161,329 (GRCm39) T416I possibly damaging Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Muc1 C A 3: 89,137,635 (GRCm39) P159Q possibly damaging Het
Myom2 A T 8: 15,182,924 (GRCm39) K1454* probably null Het
Myt1 TGAGGAGGAGGAGGAGGAGG TGAGGAGGAGGAGGAGG 2: 181,439,298 (GRCm39) probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or2t29 T A 11: 58,433,988 (GRCm39) M105L possibly damaging Het
Or52ae9 T C 7: 103,390,132 (GRCm39) H105R probably damaging Het
Or56b1b T C 7: 108,164,205 (GRCm39) T266A possibly damaging Het
Or8b1c A T 9: 38,384,081 (GRCm39) I13F probably benign Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Pzp A G 6: 128,493,158 (GRCm39) probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rapgef3 G A 15: 97,659,466 (GRCm39) probably benign Het
Rapsn T C 2: 90,867,153 (GRCm39) Y152H probably damaging Het
Rgs11 T A 17: 26,422,292 (GRCm39) M29K probably damaging Het
Rictor A G 15: 6,793,759 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rims1 T C 1: 22,497,709 (GRCm39) probably null Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Slc22a28 T C 19: 8,094,197 (GRCm39) Y245C possibly damaging Het
Slc25a1 T A 16: 17,745,300 (GRCm39) H78L probably benign Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Slc51a T A 16: 32,294,667 (GRCm39) T306S probably benign Het
Slc6a13 T G 6: 121,279,826 (GRCm39) W67G probably damaging Het
Sowahc GGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGA 10: 59,059,313 (GRCm39) probably benign Het
Sp100 A T 1: 85,627,465 (GRCm39) I86L probably damaging Het
Spata31e5 A G 1: 28,816,902 (GRCm39) S377P possibly damaging Het
Supt20 T A 3: 54,622,122 (GRCm39) Y409N probably damaging Het
Synrg C T 11: 83,915,131 (GRCm39) Q1046* probably null Het
Tab2 T C 10: 7,783,345 (GRCm39) probably benign Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tex24 A T 8: 27,834,748 (GRCm39) H92L possibly damaging Het
Tgm6 T C 2: 129,993,681 (GRCm39) V640A probably benign Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Tomm34 T C 2: 163,912,896 (GRCm39) N22D probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Trim62 A G 4: 128,778,008 (GRCm39) S16G probably damaging Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Unc5a C A 13: 55,151,746 (GRCm39) N56K possibly damaging Het
Ush2a C T 1: 188,546,603 (GRCm39) probably benign Het
Wrn A G 8: 33,785,034 (GRCm39) I446T possibly damaging Het
Zbed5 T A 5: 129,931,113 (GRCm39) V354E possibly damaging Het
Zfp266 G A 9: 20,411,095 (GRCm39) H361Y probably damaging Het
Other mutations in Itgb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Itgb5 APN 16 33,705,345 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTGATGGACTTGGTTATTAGGCCC -3'
(R):5'- CTTCTAAGCACAGCTCCATTGACCC -3'

Sequencing Primer
(F):5'- ATTAGGCCCTTGGTTGACG -3'
(R):5'- CTGGCTTTAGGTCAAAATGAGTCAC -3'
Posted On 2013-09-30