Incidental Mutation 'R7073:Itga2'
ID 549062
Institutional Source Beutler Lab
Gene Symbol Itga2
Ensembl Gene ENSMUSG00000015533
Gene Name integrin alpha 2
Synonyms DX5, VLA-2 receptor, alpha 2 subunit, CD49B
MMRRC Submission 045169-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 114969617-115068636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114996149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 714 (F714S)
Ref Sequence ENSEMBL: ENSMUSP00000053891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056117]
AlphaFold Q62469
Predicted Effect probably damaging
Transcript: ENSMUST00000056117
AA Change: F714S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533
AA Change: F714S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Int_alpha 41 96 4.91e-4 SMART
VWA 169 359 2.42e-39 SMART
Blast:VWA 364 424 4e-26 BLAST
Int_alpha 430 481 2.59e-3 SMART
Int_alpha 484 541 3.5e-9 SMART
Int_alpha 547 602 3.11e-15 SMART
Int_alpha 611 669 2.52e-1 SMART
low complexity region 890 910 N/A INTRINSIC
transmembrane domain 1129 1151 N/A INTRINSIC
Pfam:Integrin_alpha 1152 1166 9e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for targeted null mutations were viable, fertile, showed no overt anatomical defects, and exhibited no bleeding anomalies. Platelet, primary fibroblast and keratinocytes from homozygous mutant mice show less efficient adhesion to collagens in vitro. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(6)

Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T G 13: 81,709,593 (GRCm39) E1133D probably damaging Het
Ankrd13b A T 11: 77,363,335 (GRCm39) D505E probably benign Het
Ano1 C T 7: 144,192,289 (GRCm39) E361K probably damaging Het
Arap3 T A 18: 38,107,495 (GRCm39) K1341* probably null Het
Arhgef17 A C 7: 100,579,198 (GRCm39) Y583* probably null Het
Ash1l G A 3: 88,892,647 (GRCm39) E1509K probably damaging Het
B430305J03Rik T G 3: 61,271,681 (GRCm39) R21S unknown Het
Bbof1 A G 12: 84,473,609 (GRCm39) E313G probably damaging Het
Catsperb C T 12: 101,475,497 (GRCm39) T347I probably benign Het
Ccdc24 G T 4: 117,729,201 (GRCm39) A92D probably damaging Het
Ccdc63 T C 5: 122,249,073 (GRCm39) T419A probably benign Het
Ccdc7a C T 8: 129,618,866 (GRCm39) V893I possibly damaging Het
Ccdc88b G T 19: 6,831,330 (GRCm39) D537E probably benign Het
Cd276 T C 9: 58,444,615 (GRCm39) S119G probably damaging Het
Cdkn3 T C 14: 47,004,647 (GRCm39) Y70H possibly damaging Het
Cdo1 G A 18: 46,861,266 (GRCm39) probably benign Het
Cdr2 A T 7: 120,581,247 (GRCm39) F10Y probably damaging Het
Cep290 A T 10: 100,374,865 (GRCm39) K1370N possibly damaging Het
Crb1 T A 1: 139,176,049 (GRCm39) I645F probably damaging Het
Cul7 T C 17: 46,969,657 (GRCm39) W975R probably damaging Het
Ddx39b A C 17: 35,471,826 (GRCm39) E324A probably benign Het
Diaph1 T G 18: 38,022,867 (GRCm39) probably null Het
Dnah2 G A 11: 69,321,318 (GRCm39) R3917* probably null Het
Dnph1 T A 17: 46,807,815 (GRCm39) L27Q probably damaging Het
Duox2 A G 2: 122,119,788 (GRCm39) F880S probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Enpep A T 3: 129,106,319 (GRCm39) Y302* probably null Het
Ergic2 G T 6: 148,096,707 (GRCm39) H186Q probably damaging Het
Fam83b T C 9: 76,453,031 (GRCm39) D12G probably benign Het
Fbxw16 A T 9: 109,270,123 (GRCm39) V206D probably damaging Het
Fhod1 A T 8: 106,063,771 (GRCm39) V278D unknown Het
Gba2 G C 4: 43,573,753 (GRCm39) Q180E probably damaging Het
Grhl3 G A 4: 135,300,723 (GRCm39) L5F probably benign Het
H2-T15 A T 17: 36,369,235 (GRCm39) C7S unknown Het
Ifit1bl1 C T 19: 34,576,667 (GRCm39) probably null Het
Ift57 A G 16: 49,584,230 (GRCm39) T413A probably benign Het
Jmy A G 13: 93,577,841 (GRCm39) S776P probably benign Het
Kbtbd8 G A 6: 95,098,814 (GRCm39) A108T probably damaging Het
Kpna6 G A 4: 129,548,139 (GRCm39) A230V probably damaging Het
Lrfn1 C T 7: 28,159,397 (GRCm39) L439F possibly damaging Het
Lrrc1 T A 9: 77,375,847 (GRCm39) I147F probably benign Het
Lrrc7 C T 3: 157,832,884 (GRCm39) G1425R probably damaging Het
Madd T A 2: 90,992,854 (GRCm39) I1022F probably damaging Het
Map2k2 A T 10: 80,942,017 (GRCm39) T13S probably benign Het
Mdc1 G A 17: 36,164,960 (GRCm39) V1459I probably benign Het
Mdh1b G A 1: 63,760,719 (GRCm39) T114M probably damaging Het
Mfsd2a T C 4: 122,845,088 (GRCm39) I208V possibly damaging Het
Mmrn1 T A 6: 60,965,411 (GRCm39) D1147E probably damaging Het
Nbeal2 T A 9: 110,455,177 (GRCm39) I2574F probably damaging Het
Nr1d1 T G 11: 98,662,892 (GRCm39) S34R probably damaging Het
Nr3c1 A T 18: 39,619,449 (GRCm39) D279E probably benign Het
Nrde2 T C 12: 100,098,747 (GRCm39) D640G probably benign Het
Odf4 A G 11: 68,817,514 (GRCm39) L58P probably damaging Het
Or4k41 A T 2: 111,279,631 (GRCm39) I49F probably benign Het
Or4p22 A T 2: 88,317,651 (GRCm39) I192F probably benign Het
Otud6b A C 4: 14,811,743 (GRCm39) M300R probably damaging Het
Pamr1 T A 2: 102,471,280 (GRCm39) D534E probably benign Het
Pcdh7 T A 5: 57,878,299 (GRCm39) V618E probably benign Het
Pcgf6 A C 19: 47,031,226 (GRCm39) N266K possibly damaging Het
Plcz1 A T 6: 139,968,849 (GRCm39) Y196* probably null Het
Plxna1 A T 6: 89,334,311 (GRCm39) L106Q probably damaging Het
Qrich2 G A 11: 116,337,701 (GRCm39) A184V probably damaging Het
Rimkla A G 4: 119,325,275 (GRCm39) L378S probably benign Het
Rufy1 G T 11: 50,295,290 (GRCm39) H472Q probably benign Het
Samd7 T A 3: 30,810,631 (GRCm39) M216K probably benign Het
Samd9l A T 6: 3,375,856 (GRCm39) Y468* probably null Het
Scn2a T G 2: 65,558,787 (GRCm39) L1194R probably benign Het
Sgo2a T A 1: 58,056,944 (GRCm39) S1043T possibly damaging Het
Slc6a17 G T 3: 107,378,755 (GRCm39) H642Q probably benign Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
St6galnac3 T A 3: 153,117,274 (GRCm39) T150S possibly damaging Het
Strip2 T A 6: 29,941,911 (GRCm39) I627N possibly damaging Het
Sv2c A T 13: 96,224,758 (GRCm39) C184S probably damaging Het
Tm7sf2 A T 19: 6,116,527 (GRCm39) probably null Het
Ttc28 T C 5: 111,371,282 (GRCm39) I608T possibly damaging Het
Vmn1r183 T G 7: 23,754,926 (GRCm39) L243R probably damaging Het
Vmn1r68 T C 7: 10,261,778 (GRCm39) T107A probably benign Het
Vnn3 G A 10: 23,740,311 (GRCm39) G205R probably damaging Het
Zfp516 T A 18: 83,006,325 (GRCm39) probably null Het
Zpbp2 A G 11: 98,443,335 (GRCm39) D56G probably damaging Het
Other mutations in Itga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Itga2 APN 13 115,014,161 (GRCm39) missense probably damaging 0.99
IGL01481:Itga2 APN 13 114,996,168 (GRCm39) missense possibly damaging 0.63
IGL01666:Itga2 APN 13 114,973,627 (GRCm39) critical splice donor site probably null
IGL01730:Itga2 APN 13 114,990,947 (GRCm39) splice site probably benign
IGL01965:Itga2 APN 13 114,984,600 (GRCm39) splice site probably benign
IGL01987:Itga2 APN 13 114,984,482 (GRCm39) nonsense probably null
IGL02334:Itga2 APN 13 115,001,845 (GRCm39) critical splice donor site probably null
IGL02381:Itga2 APN 13 114,993,258 (GRCm39) missense probably damaging 1.00
IGL02562:Itga2 APN 13 114,973,106 (GRCm39) unclassified probably benign
IGL03191:Itga2 APN 13 114,973,020 (GRCm39) unclassified probably benign
IGL03209:Itga2 APN 13 115,017,168 (GRCm39) missense probably damaging 1.00
P0007:Itga2 UTSW 13 115,002,735 (GRCm39) missense probably damaging 1.00
R0023:Itga2 UTSW 13 115,007,032 (GRCm39) missense possibly damaging 0.90
R0023:Itga2 UTSW 13 115,007,032 (GRCm39) missense possibly damaging 0.90
R0025:Itga2 UTSW 13 115,007,032 (GRCm39) missense possibly damaging 0.90
R0029:Itga2 UTSW 13 115,007,032 (GRCm39) missense possibly damaging 0.90
R0062:Itga2 UTSW 13 115,007,032 (GRCm39) missense possibly damaging 0.90
R0062:Itga2 UTSW 13 115,007,032 (GRCm39) missense possibly damaging 0.90
R0149:Itga2 UTSW 13 114,973,115 (GRCm39) unclassified probably benign
R0152:Itga2 UTSW 13 115,002,850 (GRCm39) missense probably benign 0.06
R0496:Itga2 UTSW 13 114,990,435 (GRCm39) missense probably benign 0.00
R0502:Itga2 UTSW 13 114,982,392 (GRCm39) missense probably benign 0.15
R0599:Itga2 UTSW 13 114,993,186 (GRCm39) splice site probably benign
R0688:Itga2 UTSW 13 114,976,090 (GRCm39) missense probably benign 0.00
R0704:Itga2 UTSW 13 114,998,911 (GRCm39) missense possibly damaging 0.91
R0760:Itga2 UTSW 13 114,996,168 (GRCm39) missense possibly damaging 0.63
R0811:Itga2 UTSW 13 115,007,150 (GRCm39) missense possibly damaging 0.92
R0812:Itga2 UTSW 13 115,007,150 (GRCm39) missense possibly damaging 0.92
R0836:Itga2 UTSW 13 114,993,215 (GRCm39) missense probably damaging 0.99
R1196:Itga2 UTSW 13 115,002,691 (GRCm39) critical splice donor site probably null
R1546:Itga2 UTSW 13 114,985,956 (GRCm39) missense possibly damaging 0.63
R1639:Itga2 UTSW 13 114,993,832 (GRCm39) missense probably benign 0.00
R1834:Itga2 UTSW 13 114,993,263 (GRCm39) missense probably damaging 1.00
R1834:Itga2 UTSW 13 114,993,262 (GRCm39) missense probably damaging 0.98
R2180:Itga2 UTSW 13 114,985,917 (GRCm39) missense possibly damaging 0.67
R2190:Itga2 UTSW 13 115,007,141 (GRCm39) missense probably benign 0.05
R2518:Itga2 UTSW 13 115,017,578 (GRCm39) missense probably damaging 1.00
R3885:Itga2 UTSW 13 115,005,835 (GRCm39) missense probably benign 0.35
R3962:Itga2 UTSW 13 114,976,054 (GRCm39) missense probably damaging 0.99
R4094:Itga2 UTSW 13 115,007,161 (GRCm39) missense probably benign 0.01
R4193:Itga2 UTSW 13 115,023,185 (GRCm39) nonsense probably null
R4290:Itga2 UTSW 13 115,002,709 (GRCm39) missense probably damaging 0.98
R4459:Itga2 UTSW 13 114,980,019 (GRCm39) missense probably damaging 0.97
R4460:Itga2 UTSW 13 114,980,019 (GRCm39) missense probably damaging 0.97
R4628:Itga2 UTSW 13 115,014,229 (GRCm39) missense probably benign 0.03
R4655:Itga2 UTSW 13 115,009,805 (GRCm39) missense probably benign 0.00
R4716:Itga2 UTSW 13 114,993,909 (GRCm39) missense probably damaging 0.98
R4896:Itga2 UTSW 13 114,990,302 (GRCm39) nonsense probably null
R5093:Itga2 UTSW 13 114,992,717 (GRCm39) missense probably benign 0.00
R5488:Itga2 UTSW 13 114,979,971 (GRCm39) missense probably damaging 1.00
R5489:Itga2 UTSW 13 114,979,971 (GRCm39) missense probably damaging 1.00
R5743:Itga2 UTSW 13 115,021,042 (GRCm39) missense probably damaging 1.00
R5767:Itga2 UTSW 13 114,976,106 (GRCm39) missense possibly damaging 0.88
R5790:Itga2 UTSW 13 115,004,742 (GRCm39) missense probably benign 0.02
R5923:Itga2 UTSW 13 115,021,055 (GRCm39) missense probably benign 0.02
R6163:Itga2 UTSW 13 115,002,726 (GRCm39) missense probably damaging 1.00
R6227:Itga2 UTSW 13 114,976,097 (GRCm39) missense probably benign 0.30
R6278:Itga2 UTSW 13 114,982,424 (GRCm39) missense probably benign 0.05
R6283:Itga2 UTSW 13 115,005,786 (GRCm39) missense probably damaging 1.00
R6332:Itga2 UTSW 13 114,980,009 (GRCm39) missense probably benign
R6510:Itga2 UTSW 13 115,009,816 (GRCm39) missense probably damaging 1.00
R6742:Itga2 UTSW 13 114,973,061 (GRCm39) missense possibly damaging 0.93
R6869:Itga2 UTSW 13 115,012,073 (GRCm39) splice site probably null
R7111:Itga2 UTSW 13 115,037,066 (GRCm39) missense unknown
R7236:Itga2 UTSW 13 115,014,227 (GRCm39) missense probably benign
R7269:Itga2 UTSW 13 115,023,225 (GRCm39) nonsense probably null
R7296:Itga2 UTSW 13 114,993,930 (GRCm39) splice site probably null
R7350:Itga2 UTSW 13 114,973,738 (GRCm39) missense probably damaging 0.98
R7375:Itga2 UTSW 13 115,005,753 (GRCm39) missense probably benign 0.06
R7501:Itga2 UTSW 13 115,012,095 (GRCm39) missense probably damaging 1.00
R7687:Itga2 UTSW 13 115,002,796 (GRCm39) missense probably damaging 1.00
R7766:Itga2 UTSW 13 114,990,427 (GRCm39) missense probably benign
R7810:Itga2 UTSW 13 115,002,715 (GRCm39) missense probably benign 0.15
R8038:Itga2 UTSW 13 114,990,291 (GRCm39) missense probably damaging 1.00
R8948:Itga2 UTSW 13 115,009,866 (GRCm39) missense probably damaging 1.00
R9132:Itga2 UTSW 13 115,014,298 (GRCm39) nonsense probably null
R9153:Itga2 UTSW 13 115,001,941 (GRCm39) missense probably benign 0.00
R9159:Itga2 UTSW 13 115,014,298 (GRCm39) nonsense probably null
R9651:Itga2 UTSW 13 115,020,991 (GRCm39) missense probably benign 0.00
R9652:Itga2 UTSW 13 115,020,991 (GRCm39) missense probably benign 0.00
R9653:Itga2 UTSW 13 115,020,991 (GRCm39) missense probably benign 0.00
Z1088:Itga2 UTSW 13 114,993,868 (GRCm39) missense possibly damaging 0.46
Z1177:Itga2 UTSW 13 114,990,237 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AATGTGCTTTGTGTTCACAGAG -3'
(R):5'- CATCTTCTTGATATCAGGGGCTTC -3'

Sequencing Primer
(F):5'- TTGTGTTCACAGAGTTAGGCAAGAC -3'
(R):5'- GATATCAGGGGCTTCCTTCAATCG -3'
Posted On 2019-05-15