Incidental Mutation 'R1522:Itga5'
ID 167568
Institutional Source Beutler Lab
Gene Symbol Itga5
Ensembl Gene ENSMUSG00000000555
Gene Name integrin alpha 5 (fibronectin receptor alpha)
Synonyms Fnra, Cd49e
MMRRC Submission 040871-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1522 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 103252713-103275190 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 103265209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 233 (Q233*)
Ref Sequence ENSEMBL: ENSMUSP00000023128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023128] [ENSMUST00000023128] [ENSMUST00000215331]
AlphaFold P11688
Predicted Effect probably null
Transcript: ENSMUST00000023128
AA Change: Q233*
SMART Domains Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: Q233*

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
AA Change: Q233*
SMART Domains Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: Q233*

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 benign
Transcript: ENSMUST00000215331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230460
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,139,568 (GRCm39) S498P probably damaging Het
3100002H09Rik A G 4: 124,504,487 (GRCm39) W22R probably damaging Het
AA986860 A G 1: 130,670,831 (GRCm39) E351G probably damaging Het
Acsl5 T C 19: 55,268,924 (GRCm39) V195A probably benign Het
Actmap A G 7: 26,902,105 (GRCm39) H244R probably damaging Het
Adamts10 A G 17: 33,756,293 (GRCm39) D312G probably benign Het
Adgrb1 A G 15: 74,452,466 (GRCm39) M211V probably damaging Het
Ankfy1 C T 11: 72,646,693 (GRCm39) R859* probably null Het
Atp8b1 T A 18: 64,683,503 (GRCm39) I742L probably benign Het
B3galnt2 T A 13: 14,145,354 (GRCm39) V89E probably damaging Het
Brinp3 A C 1: 146,777,628 (GRCm39) T692P probably damaging Het
C9 T A 15: 6,516,243 (GRCm39) F349I probably damaging Het
Cacna1a T A 8: 85,360,062 (GRCm39) M1976K probably benign Het
Castor2 T G 5: 134,154,726 (GRCm39) S43R probably damaging Het
Ccdc180 T C 4: 45,927,975 (GRCm39) V1170A possibly damaging Het
Celsr1 A G 15: 85,815,477 (GRCm39) V1846A probably benign Het
Ces1f A T 8: 93,998,517 (GRCm39) Y160N possibly damaging Het
Cfap45 A G 1: 172,368,139 (GRCm39) E377G probably damaging Het
Clca3a1 T A 3: 144,460,932 (GRCm39) M240L probably benign Het
Clnk G A 5: 38,952,309 (GRCm39) T10M probably damaging Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Col11a2 G A 17: 34,274,228 (GRCm39) G375S probably damaging Het
Col6a5 T A 9: 105,817,193 (GRCm39) I373F unknown Het
Dmxl1 C T 18: 49,985,434 (GRCm39) A227V probably benign Het
Dok5 A G 2: 170,574,052 (GRCm39) N4D probably benign Het
Dpysl3 A T 18: 43,496,622 (GRCm39) V138D probably damaging Het
Efs A T 14: 55,157,172 (GRCm39) Y380N probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Farp2 A G 1: 93,546,275 (GRCm39) Q855R possibly damaging Het
Fcrl2 A C 3: 87,164,014 (GRCm39) S372A possibly damaging Het
Gadl1 C T 9: 115,773,297 (GRCm39) A113V probably damaging Het
Gda T A 19: 21,389,903 (GRCm39) E219D probably benign Het
Gli1 A T 10: 127,168,446 (GRCm39) M469K probably damaging Het
Gm4847 A T 1: 166,469,219 (GRCm39) S148R probably damaging Het
Golga2 T C 2: 32,192,216 (GRCm39) V325A probably benign Het
Hpf1 A G 8: 61,349,783 (GRCm39) D137G probably damaging Het
Htr2a C G 14: 74,943,293 (GRCm39) S291* probably null Het
Jazf1 C A 6: 52,789,168 (GRCm39) R102L probably damaging Het
Kif6 T G 17: 50,021,141 (GRCm39) L322R probably damaging Het
Ktn1 A C 14: 47,904,873 (GRCm39) K217T probably damaging Het
Lig4 A T 8: 10,023,012 (GRCm39) V256E possibly damaging Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp1 A T 10: 127,411,155 (GRCm39) D1399E probably benign Het
Mmel1 A G 4: 154,979,443 (GRCm39) E717G probably damaging Het
Mndal G T 1: 173,699,032 (GRCm39) P155H possibly damaging Het
Mycbpap A G 11: 94,402,449 (GRCm39) probably null Het
Nedd1 T C 10: 92,555,476 (GRCm39) E3G probably damaging Het
Nlgn1 A T 3: 25,490,073 (GRCm39) N551K probably damaging Het
Nup210 G A 6: 91,046,148 (GRCm39) P595L possibly damaging Het
Or2ag15 A G 7: 106,340,212 (GRCm39) C310R probably benign Het
Or2g25 A T 17: 37,970,661 (GRCm39) C188S probably damaging Het
Or4k52 A T 2: 111,610,693 (GRCm39) probably null Het
Or5ac17 T G 16: 59,036,347 (GRCm39) T210P probably damaging Het
Or5p56 A G 7: 107,589,740 (GRCm39) H56R probably benign Het
Pank3 G A 11: 35,672,508 (GRCm39) V304M probably benign Het
Phf3 G A 1: 30,844,729 (GRCm39) T1410I probably benign Het
Ppm1k A G 6: 57,502,142 (GRCm39) I7T possibly damaging Het
Ppp1r12c T C 7: 4,500,424 (GRCm39) D73G probably damaging Het
Prelid2 T G 18: 42,014,332 (GRCm39) M165L probably benign Het
Prkd3 A C 17: 79,260,125 (GRCm39) L826R probably damaging Het
Ptchd4 A T 17: 42,814,433 (GRCm39) N778I probably damaging Het
Ptprm T C 17: 67,000,866 (GRCm39) D1063G possibly damaging Het
Rab27a C A 9: 72,982,764 (GRCm39) T23N probably damaging Het
Rasgrf2 A T 13: 92,044,205 (GRCm39) F949L probably benign Het
Rbm33 A G 5: 28,542,002 (GRCm39) N68D probably damaging Het
Rgl1 A T 1: 152,462,284 (GRCm39) L109Q probably damaging Het
Rnf20 A G 4: 49,638,197 (GRCm39) N103S possibly damaging Het
Sbno1 G A 5: 124,530,675 (GRCm39) L875F probably damaging Het
Scube1 T A 15: 83,512,277 (GRCm39) probably null Het
Selenbp1 G A 3: 94,844,669 (GRCm39) V109M probably damaging Het
Serpina3c T A 12: 104,117,805 (GRCm39) I178F probably damaging Het
Shisa8 C T 15: 82,092,702 (GRCm39) G63D probably damaging Het
Snx14 T C 9: 88,284,277 (GRCm39) R464G possibly damaging Het
Snx25 A T 8: 46,577,119 (GRCm39) M1K probably null Het
Sorcs3 C A 19: 48,694,448 (GRCm39) T574K possibly damaging Het
Syne2 A G 12: 76,150,557 (GRCm39) E6528G probably damaging Het
Syt5 T C 7: 4,543,245 (GRCm39) E338G probably damaging Het
Tbk1 T C 10: 121,387,223 (GRCm39) K691E probably benign Het
Tenm3 G A 8: 48,848,611 (GRCm39) T11I probably damaging Het
Thrb A G 14: 18,002,597 (GRCm38) H87R probably damaging Het
Tlr4 T A 4: 66,757,933 (GRCm39) M242K possibly damaging Het
Tm4sf19 T C 16: 32,224,820 (GRCm39) M56T possibly damaging Het
Tmem212 T A 3: 27,940,620 (GRCm39) R66* probably null Het
Tmem39b G T 4: 129,578,275 (GRCm39) D315E probably benign Het
Tnxb T C 17: 34,937,612 (GRCm39) F3834L probably damaging Het
Trim36 A T 18: 46,319,250 (GRCm39) L225* probably null Het
Trim42 A T 9: 97,247,732 (GRCm39) H321Q probably damaging Het
Trio G T 15: 27,732,726 (GRCm39) Q3052K probably benign Het
Trpm3 T C 19: 22,955,698 (GRCm39) I1091T probably benign Het
Tst T C 15: 78,284,143 (GRCm39) E228G possibly damaging Het
Ttn T C 2: 76,702,060 (GRCm39) probably benign Het
Uap1 A C 1: 169,978,510 (GRCm39) probably null Het
Ush2a T C 1: 188,530,011 (GRCm39) S3267P possibly damaging Het
Usp5 T C 6: 124,802,129 (GRCm39) T38A probably benign Het
Uvssa A T 5: 33,545,152 (GRCm39) Q84L probably damaging Het
Vmn1r159 T G 7: 22,542,693 (GRCm39) H113P probably damaging Het
Vps13d A T 4: 144,824,742 (GRCm39) probably null Het
Zfp182 T A X: 20,897,799 (GRCm39) I166L probably benign Het
Zfp811 A T 17: 33,016,622 (GRCm39) Y472N probably damaging 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
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
R4290:Itga5 UTSW 15 103,260,684 (GRCm39) critical splice donor site probably null
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'- TGTACACAAGTATGGCAGCAGAGC -3'
(R):5'- CACAGATTTTGGCAGTGCAGCAG -3'

Sequencing Primer
(F):5'- gagaggcagaggcaagag -3'
(R):5'- GGCAGGGCTACTGCCAAG -3'
Posted On 2014-04-13