Incidental Mutation 'R6332:Itga2'
ID 513193
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 044486-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6332 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 114969617-115068636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114980009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1064 (M1064R)
Ref Sequence ENSEMBL: ENSMUSP00000053891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056117]
AlphaFold Q62469
Predicted Effect probably benign
Transcript: ENSMUST00000056117
AA Change: M1064R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533
AA Change: M1064R

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 0.0705 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik C A 7: 42,095,667 (GRCm39) G194C possibly damaging Het
Adamtsl1 A G 4: 86,135,248 (GRCm39) K258E probably damaging Het
Afdn A T 17: 14,030,707 (GRCm39) D206V possibly damaging Het
Agt G T 8: 125,284,572 (GRCm39) Q389K possibly damaging Het
Ankrd44 A T 1: 54,801,432 (GRCm39) D298E probably damaging Het
Anks1 A G 17: 28,271,709 (GRCm39) S897G probably benign Het
Apol9b A G 15: 77,619,746 (GRCm39) probably null Het
Baz1a T C 12: 54,965,339 (GRCm39) E705G probably benign Het
BC048679 C T 7: 81,144,966 (GRCm39) V126M probably benign Het
Cep295 A G 9: 15,246,210 (GRCm39) F749L possibly damaging Het
Cntrl T A 2: 35,018,036 (GRCm39) I482K possibly damaging Het
Col6a3 A G 1: 90,749,955 (GRCm39) F293S probably damaging Het
Dnah12 T G 14: 26,439,129 (GRCm39) M527R probably damaging Het
Dnhd1 G A 7: 105,343,273 (GRCm39) R1539H probably benign Het
Ece1 A G 4: 137,685,319 (GRCm39) Y603C probably damaging Het
Eea1 G A 10: 95,877,335 (GRCm39) A1350T possibly damaging Het
Exoc3l4 A T 12: 111,394,402 (GRCm39) K507N possibly damaging Het
Flt3l A T 7: 44,783,091 (GRCm39) probably null Het
Fn1 T C 1: 71,667,230 (GRCm39) Q834R probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hycc2 T A 1: 58,569,034 (GRCm39) Y515F probably damaging Het
Ifih1 T C 2: 62,469,827 (GRCm39) N157D possibly damaging Het
Itgae A G 11: 73,002,228 (GRCm39) probably null Het
Krtap10-4 T C 10: 77,662,883 (GRCm39) probably benign Het
Lamp3 A G 16: 19,518,431 (GRCm39) C269R probably damaging Het
Lrp5 T C 19: 3,709,355 (GRCm39) D125G probably damaging Het
Matn2 A C 15: 34,423,901 (GRCm39) E586D probably benign Het
Mef2b T A 8: 70,616,789 (GRCm39) probably null Het
Mrps22 A G 9: 98,483,524 (GRCm39) probably null Het
Mtmr2 T C 9: 13,711,325 (GRCm39) F445L probably damaging Het
Nxph4 A G 10: 127,362,237 (GRCm39) V218A probably damaging Het
Or1e23 A G 11: 73,408,001 (GRCm39) V8A probably benign Het
Or4f57 C T 2: 111,791,091 (GRCm39) G109D probably damaging Het
Or51k1 A G 7: 103,660,980 (GRCm39) S310P probably benign Het
Pdpk1 A T 17: 24,325,896 (GRCm39) V100D probably damaging Het
Phldb2 A C 16: 45,594,609 (GRCm39) S899A probably benign Het
Pnpla3 G A 15: 84,056,983 (GRCm39) probably null Het
Rasal2 A G 1: 157,126,757 (GRCm39) Y94H probably damaging Het
Rlf A T 4: 121,006,019 (GRCm39) I987N possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rprd2 A G 3: 95,687,753 (GRCm39) Y300H probably damaging Het
Setbp1 G A 18: 78,826,584 (GRCm39) S1343L probably benign Het
Sfswap A G 5: 129,648,105 (GRCm39) K938E possibly damaging Het
Shld2 A G 14: 33,990,129 (GRCm39) V259A probably benign Het
Slc3a1 A C 17: 85,335,860 (GRCm39) M1L probably damaging Het
Slco5a1 C T 1: 12,991,409 (GRCm39) V427I probably benign Het
Ssbp2 A T 13: 91,839,027 (GRCm39) M300L probably benign Het
Ssc5d A G 7: 4,940,521 (GRCm39) D878G probably damaging Het
Stk19 A G 17: 35,043,574 (GRCm39) L212P probably damaging Het
Stk39 T C 2: 68,240,387 (GRCm39) M115V possibly damaging Het
Syt17 A C 7: 118,033,466 (GRCm39) S181A probably benign Het
Taar7b A T 10: 23,875,849 (GRCm39) N5Y probably benign Het
Tmc4 A G 7: 3,680,421 (GRCm39) probably null Het
Tmem248 T A 5: 130,258,310 (GRCm39) M1K probably null Het
Tmem82 T A 4: 141,343,721 (GRCm39) Q183L probably damaging Het
Tpd52l1 T C 10: 31,214,203 (GRCm39) E142G probably damaging Het
Ttll2 A T 17: 7,619,167 (GRCm39) H253Q probably damaging Het
Ttn T C 2: 76,687,808 (GRCm39) probably benign Het
Ubd A G 17: 37,506,392 (GRCm39) K93E probably benign Het
Ugt2b35 T A 5: 87,149,415 (GRCm39) F222Y probably damaging Het
Vmn2r10 G T 5: 109,151,328 (GRCm39) N95K probably damaging Het
Vwa8 T C 14: 79,434,904 (GRCm39) V1775A probably benign Het
Zdbf2 A G 1: 63,346,981 (GRCm39) K1787E possibly damaging Het
Zfp26 A T 9: 20,348,582 (GRCm39) F661I probably damaging Het
Zfp735 A T 11: 73,602,504 (GRCm39) K483* probably null Het
Zfp946 A G 17: 22,673,519 (GRCm39) E91G probably damaging Het
Zic5 C A 14: 122,697,161 (GRCm39) D485Y unknown Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E 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
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'- GCTGTTTATGGCAAGGACAG -3'
(R):5'- TGTATCCAGGGTCCTTCCTAG -3'

Sequencing Primer
(F):5'- TGACACTATTCATGGAGATGCCG -3'
(R):5'- AGGGTCCTTCCTAGCACTGAG -3'
Posted On 2018-04-27