Incidental Mutation 'R0502:Itga2'
ID 47219
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 038697-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0502 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 114969617-115068636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 114982392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 1038 (N1038H)
Ref Sequence ENSEMBL: ENSMUSP00000053891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056117]
AlphaFold Q62469
Predicted Effect probably benign
Transcript: ENSMUST00000056117
AA Change: N1038H

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533
AA Change: N1038H

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
Meta Mutation Damage Score 0.0949 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Ano1 A G 7: 144,150,952 (GRCm39) L821P probably damaging Het
Apol10b T A 15: 77,476,349 (GRCm39) probably benign Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Ccar2 A G 14: 70,378,431 (GRCm39) S625P probably benign Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cep350 A T 1: 155,776,629 (GRCm39) probably null Het
Chd3 A G 11: 69,244,931 (GRCm39) V1203A probably damaging Het
Col24a1 A G 3: 145,251,071 (GRCm39) probably benign Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dicer1 A T 12: 104,671,319 (GRCm39) S984T probably damaging Het
Dmbt1 G A 7: 130,699,403 (GRCm39) probably null Het
Dnah7b A T 1: 46,258,704 (GRCm39) E1965V probably damaging Het
Dpp4 G T 2: 62,195,332 (GRCm39) N315K probably damaging Het
Eeig2 G A 3: 108,900,001 (GRCm39) R116C probably damaging Het
Fat4 T A 3: 39,057,073 (GRCm39) S4256R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gpatch4 A G 3: 87,962,672 (GRCm39) D295G probably benign Het
Gpbar1 A T 1: 74,318,551 (GRCm39) I265F probably benign Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hacl1 A T 14: 31,344,941 (GRCm39) probably benign Het
Hnrnpc A G 14: 52,312,629 (GRCm39) probably benign Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ifnar1 T A 16: 91,298,639 (GRCm39) C419S probably damaging Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Kif16b C T 2: 142,554,075 (GRCm39) D908N probably benign Het
Lamc1 A G 1: 153,122,678 (GRCm39) probably benign Het
Lrig3 A G 10: 125,844,605 (GRCm39) T690A probably damaging Het
Lrp2 T C 2: 69,341,361 (GRCm39) K940E probably damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Ncam1 A G 9: 49,481,118 (GRCm39) probably benign Het
Nopchap1 A G 10: 83,197,920 (GRCm39) D42G probably damaging Het
Or2z2 T C 11: 58,346,140 (GRCm39) I212V possibly damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Pbrm1 T G 14: 30,786,777 (GRCm39) D631E probably benign Het
Pdc A T 1: 150,204,165 (GRCm39) probably benign Het
Pkd1 T C 17: 24,793,766 (GRCm39) S1818P probably damaging Het
Ptpru T C 4: 131,520,954 (GRCm39) N784S probably benign Het
Rab35 G A 5: 115,783,723 (GRCm39) R170Q probably benign Het
Rerg A T 6: 137,033,305 (GRCm39) C123* probably null Het
Ros1 A G 10: 52,070,919 (GRCm39) probably benign Het
Siglece A G 7: 43,309,355 (GRCm39) Y68H probably damaging Het
Slc28a2 T A 2: 122,288,762 (GRCm39) probably null Het
Slc4a11 T C 2: 130,530,077 (GRCm39) K234E probably damaging Het
Sqor C T 2: 122,639,970 (GRCm39) P158S probably benign Het
Tcerg1 C T 18: 42,656,021 (GRCm39) P110S unknown Het
Tm6sf2 T A 8: 70,530,591 (GRCm39) Y224N probably damaging Het
Tmem39b A C 4: 129,580,779 (GRCm39) Y238D possibly damaging Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Ubap2l A T 3: 89,916,520 (GRCm39) L898Q probably damaging Het
Uggt1 A T 1: 36,199,027 (GRCm39) V1207E probably damaging Het
Uhrf2 A G 19: 30,070,176 (GRCm39) D775G probably damaging Het
Utp25 A T 1: 192,797,136 (GRCm39) probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn1r87 T G 7: 12,865,583 (GRCm39) T235P probably damaging Het
Vmn2r96 T A 17: 18,804,262 (GRCm39) M504K probably benign Het
Zdbf2 A T 1: 63,344,449 (GRCm39) I943F possibly damaging Het
Zfp78 A G 7: 6,376,157 (GRCm39) D22G probably damaging Het
Zfp827 C T 8: 79,905,706 (GRCm39) probably null Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null 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
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
R7073:Itga2 UTSW 13 114,996,149 (GRCm39) missense probably damaging 1.00
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'- CACACTTGCCGTTAAAGCCAGAAG -3'
(R):5'- AGCTCACTGCAACAGTTGAGCC -3'

Sequencing Primer
(F):5'- aaccttcctaatactgtgaccc -3'
(R):5'- ACTGCAACAGTTGAGCCTTTAC -3'
Posted On 2013-06-12