Incidental Mutation 'R4290:Itga5'
ID 374399
Institutional Source Beutler Lab
Gene Symbol Itga5
Ensembl Gene ENSMUSG00000000555
Gene Name integrin alpha 5 (fibronectin receptor alpha)
Synonyms Fnra, Cd49e
MMRRC Submission 041655-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4290 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 103252713-103275190 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 103260684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023128] [ENSMUST00000023128] [ENSMUST00000215331]
AlphaFold P11688
Predicted Effect probably null
Transcript: ENSMUST00000023128
SMART Domains Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555

DomainStartEndE-ValueType
low complexity region 17 40 N/A INTRINSIC
Int_alpha 59 118 2.27e-8 SMART
Int_alpha 271 321 9.6e-7 SMART
Int_alpha 325 387 1.03e-15 SMART
Int_alpha 391 447 4.17e-16 SMART
Int_alpha 455 511 1.49e-3 SMART
SCOP:d1m1xa2 651 789 3e-44 SMART
SCOP:d1m1xa3 792 992 1e-62 SMART
transmembrane domain 1003 1025 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000023128
SMART Domains Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555

DomainStartEndE-ValueType
low complexity region 17 40 N/A INTRINSIC
Int_alpha 59 118 2.27e-8 SMART
Int_alpha 271 321 9.6e-7 SMART
Int_alpha 325 387 1.03e-15 SMART
Int_alpha 391 447 4.17e-16 SMART
Int_alpha 455 511 1.49e-3 SMART
SCOP:d1m1xa2 651 789 3e-44 SMART
SCOP:d1m1xa3 792 992 1e-62 SMART
transmembrane domain 1003 1025 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183535
Predicted Effect probably benign
Transcript: ENSMUST00000215331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230775
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain, which is proteolytically processed to generate light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signaling. Integrin alpha 5 and integrin alpha V chains are produced by distinct genes. Homozygous knockout mice for this gene exhibit embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in posterior trunk and yolk sac mesodermal structures, lack of epithelialization of somites, reduced numbers of Schwann cells, and lethality around embryonic day 10-11. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,539,738 (GRCm39) N1545S probably benign Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Auts2 A G 5: 131,503,809 (GRCm39) S225P probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cfap221 A G 1: 119,858,650 (GRCm39) S728P probably benign Het
Chrna9 A G 5: 66,134,481 (GRCm39) K444R probably benign Het
Cox10 A T 11: 63,855,081 (GRCm39) V400E probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Ddr2 A G 1: 169,818,178 (GRCm39) V443A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
En1 C A 1: 120,531,486 (GRCm39) A242E unknown Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Hepacam2 T A 6: 3,487,237 (GRCm39) Y40F probably benign Het
Ift80 A G 3: 68,871,023 (GRCm39) I191T probably damaging Het
Il19 T A 1: 130,862,750 (GRCm39) T58S possibly damaging Het
Itga2 G A 13: 115,002,709 (GRCm39) R594C probably damaging Het
Kcna1 T C 6: 126,618,838 (GRCm39) D494G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kmt2b A T 7: 30,281,261 (GRCm39) probably null Het
Kmt5b T C 19: 3,852,193 (GRCm39) Y125H possibly damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Man1c1 T A 4: 134,291,096 (GRCm39) D600V probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mettl5 T C 2: 69,711,176 (GRCm39) N114S probably benign Het
Mindy2 T A 9: 70,538,376 (GRCm39) R320W probably damaging Het
Nrip1 A G 16: 76,088,876 (GRCm39) S894P probably benign Het
Nup210l A T 3: 90,114,633 (GRCm39) H1736L probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2aj4 A T 16: 19,384,994 (GRCm39) M213K possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or2z9 A G 8: 72,853,612 (GRCm39) T3A probably benign Het
Or4e1 T C 14: 52,701,442 (GRCm39) N8S probably damaging Het
Or6b6 A C 7: 106,570,918 (GRCm39) L211R probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Ppp4c A G 7: 126,391,231 (GRCm39) probably null Het
Rps15a-ps1 A G 10: 106,028,496 (GRCm39) noncoding transcript Het
Rps27a A G 11: 29,495,933 (GRCm39) Y140H probably benign Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Ttc19 A G 11: 62,176,753 (GRCm39) probably null Het
Ttf2 T C 3: 100,870,077 (GRCm39) D332G probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vcan A G 13: 89,873,605 (GRCm39) V83A probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfa-ps A T 10: 52,419,807 (GRCm39) noncoding transcript Het
Other mutations in Itga5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Itga5 APN 15 103,258,799 (GRCm39) critical splice donor site probably null
IGL01102:Itga5 APN 15 103,255,102 (GRCm39) missense probably benign 0.13
IGL01474:Itga5 APN 15 103,262,697 (GRCm39) nonsense probably null
IGL01768:Itga5 APN 15 103,259,997 (GRCm39) missense probably benign 0.34
IGL01832:Itga5 APN 15 103,264,376 (GRCm39) nonsense probably null
IGL02188:Itga5 APN 15 103,256,144 (GRCm39) missense probably benign 0.30
IGL02701:Itga5 APN 15 103,256,193 (GRCm39) missense probably damaging 0.98
IGL02838:Itga5 APN 15 103,260,036 (GRCm39) missense probably damaging 1.00
IGL02955:Itga5 APN 15 103,259,261 (GRCm39) missense possibly damaging 0.48
R0617:Itga5 UTSW 15 103,264,742 (GRCm39) critical splice donor site probably null
R0845:Itga5 UTSW 15 103,259,196 (GRCm39) missense probably benign 0.07
R1210:Itga5 UTSW 15 103,265,900 (GRCm39) missense possibly damaging 0.76
R1522:Itga5 UTSW 15 103,265,209 (GRCm39) nonsense probably null
R1576:Itga5 UTSW 15 103,260,044 (GRCm39) missense probably damaging 0.96
R1666:Itga5 UTSW 15 103,256,329 (GRCm39) missense probably benign 0.00
R1808:Itga5 UTSW 15 103,258,826 (GRCm39) missense probably damaging 1.00
R1836:Itga5 UTSW 15 103,254,441 (GRCm39) missense probably damaging 1.00
R1964:Itga5 UTSW 15 103,262,741 (GRCm39) missense probably damaging 1.00
R4458:Itga5 UTSW 15 103,258,630 (GRCm39) missense probably damaging 1.00
R4610:Itga5 UTSW 15 103,259,259 (GRCm39) missense probably damaging 1.00
R4676:Itga5 UTSW 15 103,265,637 (GRCm39) missense probably damaging 1.00
R4795:Itga5 UTSW 15 103,256,187 (GRCm39) missense probably benign 0.05
R4796:Itga5 UTSW 15 103,256,187 (GRCm39) missense probably benign 0.05
R4837:Itga5 UTSW 15 103,262,511 (GRCm39) missense probably damaging 0.99
R4929:Itga5 UTSW 15 103,261,662 (GRCm39) missense probably benign 0.42
R5896:Itga5 UTSW 15 103,259,514 (GRCm39) missense probably benign
R5947:Itga5 UTSW 15 103,265,212 (GRCm39) missense probably damaging 1.00
R5957:Itga5 UTSW 15 103,259,856 (GRCm39) missense probably benign 0.05
R6153:Itga5 UTSW 15 103,265,880 (GRCm39) missense probably damaging 1.00
R6353:Itga5 UTSW 15 103,260,950 (GRCm39) missense probably damaging 0.98
R6657:Itga5 UTSW 15 103,259,222 (GRCm39) missense probably damaging 1.00
R6698:Itga5 UTSW 15 103,259,808 (GRCm39) missense probably benign 0.15
R6891:Itga5 UTSW 15 103,265,970 (GRCm39) missense probably damaging 1.00
R6981:Itga5 UTSW 15 103,258,653 (GRCm39) missense probably benign 0.00
R7574:Itga5 UTSW 15 103,258,876 (GRCm39) missense probably damaging 1.00
R7762:Itga5 UTSW 15 103,258,184 (GRCm39) missense probably benign 0.01
R7813:Itga5 UTSW 15 103,265,741 (GRCm39) critical splice acceptor site probably null
R7984:Itga5 UTSW 15 103,264,379 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGGATAAGCAGGGTCTGG -3'
(R):5'- AGATTTGTGCCTGCCAGTG -3'

Sequencing Primer
(F):5'- CTGGATAAGCAGGGTCTGGGTAAG -3'
(R):5'- GGAGGCCAGTTCTAGTTAAC -3'
Posted On 2016-03-07