Incidental Mutation 'IGL02188:Itga5'
ID283724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itga5
Ensembl Gene ENSMUSG00000000555
Gene Nameintegrin alpha 5 (fibronectin receptor alpha)
SynonymsFnra, Cd49e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02188
Quality Score
Status
Chromosome15
Chromosomal Location103344286-103366763 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 103347717 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 936 (R936H)
Ref Sequence ENSEMBL: ENSMUSP00000023128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023128] [ENSMUST00000215331]
Predicted Effect probably benign
Transcript: ENSMUST00000023128
AA Change: R936H

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: R936H

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: ENSMUST00000230775
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 35,936,077 N56S probably benign Het
Asb18 A G 1: 89,996,299 C81R probably benign Het
Ccl25 A C 8: 4,348,552 probably benign Het
Cdh13 A G 8: 118,851,761 T176A probably benign Het
Cnrip1 A G 11: 17,078,398 probably null Het
Dnmt1 A T 9: 20,941,738 C62* probably null Het
Eepd1 T C 9: 25,581,892 F311L probably benign Het
Elmsan1 T C 12: 84,162,326 I667M probably benign Het
Extl3 A G 14: 65,075,705 L676P probably damaging Het
F13a1 A G 13: 36,906,061 probably benign Het
Galnt12 C T 4: 47,122,521 R267W probably damaging Het
Gm12394 T A 4: 42,791,994 probably null Het
Gm5150 T A 3: 15,963,662 K148N possibly damaging Het
Haus8 G T 8: 71,257,415 A51E probably damaging Het
Hyal5 T C 6: 24,877,036 Y303H probably damaging Het
Itgb4 A G 11: 116,003,387 N1282S probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Matn4 C T 2: 164,400,866 R104H probably benign Het
Myg1 T C 15: 102,337,441 I238T probably benign Het
Myo7a C T 7: 98,091,027 A598T probably damaging Het
Nbea T A 3: 55,983,837 I1604L probably benign Het
Nfx1 G A 4: 40,993,827 G547R probably damaging Het
Olfr1467 A T 19: 13,365,032 M135L probably benign Het
Olfr1467 A T 19: 13,365,279 Y217F probably damaging Het
Pelp1 T A 11: 70,409,892 I41F unknown Het
Pla2g2f T C 4: 138,752,207 probably benign Het
Rab19 T A 6: 39,384,034 S39T probably benign Het
Samd8 T C 14: 21,783,798 probably null Het
Sec16a T C 2: 26,436,008 D1219G probably damaging Het
Slc2a4 C T 11: 69,946,330 M1I probably null Het
Slc44a1 T C 4: 53,541,361 V273A probably benign Het
Svep1 T C 4: 58,068,382 T3135A possibly damaging Het
Tnnc1 T C 14: 31,210,660 L100P possibly damaging Het
Ubr3 C T 2: 69,959,611 R870* probably null Het
Usp28 T C 9: 49,024,009 S87P probably benign Het
Xylt1 T A 7: 117,634,737 V497E probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Itga5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Itga5 APN 15 103350372 critical splice donor site probably null
IGL01102:Itga5 APN 15 103346675 missense probably benign 0.13
IGL01474:Itga5 APN 15 103354270 nonsense probably null
IGL01768:Itga5 APN 15 103351570 missense probably benign 0.34
IGL01832:Itga5 APN 15 103355949 nonsense probably null
IGL02701:Itga5 APN 15 103347766 missense probably damaging 0.98
IGL02838:Itga5 APN 15 103351609 missense probably damaging 1.00
IGL02955:Itga5 APN 15 103350834 missense possibly damaging 0.48
R0617:Itga5 UTSW 15 103356315 critical splice donor site probably null
R0845:Itga5 UTSW 15 103350769 missense probably benign 0.07
R1210:Itga5 UTSW 15 103357473 missense possibly damaging 0.76
R1522:Itga5 UTSW 15 103356782 nonsense probably null
R1576:Itga5 UTSW 15 103351617 missense probably damaging 0.96
R1666:Itga5 UTSW 15 103347902 missense probably benign 0.00
R1808:Itga5 UTSW 15 103350399 missense probably damaging 1.00
R1836:Itga5 UTSW 15 103346014 missense probably damaging 1.00
R1964:Itga5 UTSW 15 103354314 missense probably damaging 1.00
R4290:Itga5 UTSW 15 103352257 critical splice donor site probably null
R4458:Itga5 UTSW 15 103350203 missense probably damaging 1.00
R4610:Itga5 UTSW 15 103350832 missense probably damaging 1.00
R4676:Itga5 UTSW 15 103357210 missense probably damaging 1.00
R4795:Itga5 UTSW 15 103347760 missense probably benign 0.05
R4796:Itga5 UTSW 15 103347760 missense probably benign 0.05
R4837:Itga5 UTSW 15 103354084 missense probably damaging 0.99
R4929:Itga5 UTSW 15 103353235 missense probably benign 0.42
R5896:Itga5 UTSW 15 103351087 missense probably benign
R5947:Itga5 UTSW 15 103356785 missense probably damaging 1.00
R5957:Itga5 UTSW 15 103351429 missense probably benign 0.05
R6153:Itga5 UTSW 15 103357453 missense probably damaging 1.00
R6353:Itga5 UTSW 15 103352523 missense probably damaging 0.98
R6657:Itga5 UTSW 15 103350795 missense probably damaging 1.00
R6698:Itga5 UTSW 15 103351381 missense probably benign 0.15
R6891:Itga5 UTSW 15 103357543 missense probably damaging 1.00
R6981:Itga5 UTSW 15 103350226 missense probably benign 0.00
R7574:Itga5 UTSW 15 103350449 missense probably damaging 1.00
R7762:Itga5 UTSW 15 103349757 missense probably benign 0.01
R7813:Itga5 UTSW 15 103357314 critical splice acceptor site probably null
Posted On2015-04-16