Incidental Mutation 'R7296:Itga2'
ID 586037
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 045400-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7296 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 114969617-115068636 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 114993930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056117]
AlphaFold Q62469
Predicted Effect probably null
Transcript: ENSMUST00000056117
SMART Domains Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533

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: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (85/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,302 (GRCm39) M226K probably benign Het
4921524L21Rik T G 18: 6,626,385 (GRCm39) S132R probably damaging Het
A4gnt T G 9: 99,502,335 (GRCm39) I165S probably damaging Het
Abca14 G A 7: 119,877,534 (GRCm39) D1061N probably benign Het
Abcc9 G A 6: 142,617,319 (GRCm39) P582S probably damaging Het
Abhd5 G A 9: 122,208,638 (GRCm39) V343I probably benign Het
Adam6a C T 12: 113,509,192 (GRCm39) R522C probably damaging Het
Ankle2 G A 5: 110,385,590 (GRCm39) R313H probably damaging Het
Aplf G A 6: 87,623,197 (GRCm39) T315I probably damaging Het
Asic5 C T 3: 81,928,383 (GRCm39) P491S probably benign Het
Atp5f1b T C 10: 127,921,391 (GRCm39) Y230H probably benign Het
B4galt6 A T 18: 20,861,099 (GRCm39) I51N probably damaging Het
Bmal2 G A 6: 146,723,632 (GRCm39) V321I not run Het
C4b A G 17: 34,962,633 (GRCm39) L23S probably damaging Het
Cables2 A G 2: 179,902,129 (GRCm39) V410A Het
Ccdc168 T A 1: 44,100,076 (GRCm39) K341* probably null Het
Cdyl A G 13: 36,047,378 (GRCm39) M489V probably damaging Het
Clip4 T C 17: 72,096,996 (GRCm39) M40T probably damaging Het
Col12a1 T C 9: 79,589,348 (GRCm39) Y1069C probably damaging Het
Col6a3 T C 1: 90,755,708 (GRCm39) M194V probably benign Het
Colec11 T A 12: 28,644,714 (GRCm39) D260V probably damaging Het
Cracdl T C 1: 37,653,699 (GRCm39) T1036A possibly damaging Het
Cux2 T C 5: 121,999,319 (GRCm39) D1207G probably benign Het
Cyp2d34 G T 15: 82,501,436 (GRCm39) N297K possibly damaging Het
Dmbt1 A G 7: 130,713,861 (GRCm39) Y1643C unknown Het
Dnmt3c A G 2: 153,556,946 (GRCm39) T288A probably benign Het
Dock8 T A 19: 25,162,245 (GRCm39) F1842I probably benign Het
Dysf A G 6: 84,083,880 (GRCm39) I740V probably benign Het
Epha6 T A 16: 59,736,201 (GRCm39) M778L probably benign Het
Eri2 A T 7: 119,385,739 (GRCm39) L254* probably null Het
Fam43b A G 4: 138,123,152 (GRCm39) F56S probably damaging Het
Fat4 C A 3: 38,943,294 (GRCm39) S729* probably null Het
Fbxw22 C A 9: 109,211,143 (GRCm39) W386L probably benign Het
Fgd6 T A 10: 93,879,909 (GRCm39) C254* probably null Het
Fgd6 C A 10: 93,975,743 (GRCm39) T1386K probably benign Het
Fkbp7 G T 2: 76,502,108 (GRCm39) D98E possibly damaging Het
Hectd1 C T 12: 51,832,635 (GRCm39) C913Y possibly damaging Het
Hgf T A 5: 16,769,841 (GRCm39) M105K probably benign Het
Icam1 A C 9: 20,930,311 (GRCm39) D55A probably benign Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Klra17 T A 6: 129,808,555 (GRCm39) N226I possibly damaging Het
Krt1 T A 15: 101,759,064 (GRCm39) R33S unknown Het
L3mbtl3 T A 10: 26,158,728 (GRCm39) D615V unknown Het
Lrp2 T A 2: 69,312,725 (GRCm39) Y2521F probably benign Het
Megf10 A T 18: 57,408,825 (GRCm39) N589I probably damaging Het
Metap1d G C 2: 71,337,129 (GRCm39) G14A probably benign Het
Mfap5 T A 6: 122,505,381 (GRCm39) D162E probably benign Het
Mixl1 T C 1: 180,524,523 (GRCm39) I19V probably benign Het
Mtrr G T 13: 68,716,979 (GRCm39) Y411* probably null Het
Myh7 T C 14: 55,227,482 (GRCm39) T318A probably benign Het
Nbeal1 T A 1: 60,349,383 (GRCm39) Y2348* probably null Het
Nhsl3 A G 4: 129,119,211 (GRCm39) Y170H probably damaging Het
Niban2 T C 2: 32,812,654 (GRCm39) S468P possibly damaging Het
Nlrc3 T C 16: 3,781,454 (GRCm39) S668G probably damaging Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or10ag59 T A 2: 87,406,052 (GRCm39) V208E probably damaging Het
Or12j2 A T 7: 139,916,654 (GRCm39) D293V possibly damaging Het
Or4c117 C A 2: 88,955,180 (GRCm39) R298S probably benign Het
Pcna A G 2: 132,094,797 (GRCm39) S54P probably benign Het
Pde6a A G 18: 61,391,364 (GRCm39) T570A probably damaging Het
Phf21b A T 15: 84,739,918 (GRCm39) M1K probably null Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prob1 A G 18: 35,786,352 (GRCm39) F634S possibly damaging Het
Prss50 A G 9: 110,690,357 (GRCm39) T167A probably damaging Het
Ptpn1 T C 2: 167,816,692 (GRCm39) V249A probably damaging Het
Rai1 G A 11: 60,079,499 (GRCm39) V1188I probably benign Het
Ric1 G A 19: 29,561,978 (GRCm39) probably null Het
Robo1 C T 16: 72,786,519 (GRCm39) Q844* probably null Het
Rpn1 A G 6: 88,061,619 (GRCm39) D36G possibly damaging Het
Serpinb1b A T 13: 33,277,810 (GRCm39) M348L probably benign Het
Setd4 T C 16: 93,380,830 (GRCm39) probably null Het
Setd5 T G 6: 113,124,518 (GRCm39) S1124A probably benign Het
Slc35c1 C A 2: 92,289,084 (GRCm39) V154F probably damaging Het
Slc7a6os G T 8: 106,937,121 (GRCm39) S113* probably null Het
Syne2 T A 12: 76,149,810 (GRCm39) D1787E probably benign Het
Tas2r144 A C 6: 42,192,373 (GRCm39) I38L probably damaging Het
Tepsin G T 11: 119,982,534 (GRCm39) T512K possibly damaging Het
Utp20 A G 10: 88,606,586 (GRCm39) V1662A probably benign Het
Vmn1r201 C T 13: 22,659,509 (GRCm39) A241V possibly damaging Het
Vmn2r60 T A 7: 41,785,826 (GRCm39) S210T probably benign Het
Wdr6 G T 9: 108,451,784 (GRCm39) H700N probably damaging Het
Zdhhc8 T C 16: 18,052,790 (GRCm39) T29A probably benign Het
Zfp335 A G 2: 164,742,052 (GRCm39) I614T probably damaging Het
Zfp54 T A 17: 21,653,844 (GRCm39) S113T probably benign Het
Zfp873 T A 10: 81,897,071 (GRCm39) C601S probably damaging Het
Zfyve26 T C 12: 79,325,146 (GRCm39) probably null Het
Zmynd8 T C 2: 165,681,929 (GRCm39) T201A 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
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
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'- CATTCAGGCTGCATCCTTAACATC -3'
(R):5'- CCCAGTAGGAATTGCTGCTTCAG -3'

Sequencing Primer
(F):5'- TTCCCATCATACTGACTATGGAAGC -3'
(R):5'- GGAATTGCTGCTTCAGATTTTTAC -3'
Posted On 2019-10-21