Incidental Mutation 'R9653:Itga2'
ID 727225
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9653 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 114969617-115068636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115020991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 120 (P120L)
Ref Sequence ENSEMBL: ENSMUSP00000053891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056117] [ENSMUST00000224204]
AlphaFold Q62469
Predicted Effect probably benign
Transcript: ENSMUST00000056117
AA Change: P120L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533
AA Change: P120L

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
Predicted Effect probably benign
Transcript: ENSMUST00000224204
AA Change: P103L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,243,741 (GRCm39) P1868L probably benign Het
Abcc1 T C 16: 14,214,257 (GRCm39) Y191H probably damaging Het
Adamtsl5 C T 10: 80,180,763 (GRCm39) G100R probably damaging Het
Adgrg5 C T 8: 95,663,864 (GRCm39) P235S Het
Anks1b T G 10: 90,346,524 (GRCm39) L608R probably damaging Het
Ano10 C G 9: 122,080,221 (GRCm39) A597P possibly damaging Het
Calb2 T C 8: 110,881,374 (GRCm39) M58V probably benign Het
Ccdc180 T C 4: 45,923,495 (GRCm39) I1092T probably damaging Het
Ces3b G T 8: 105,812,257 (GRCm39) A169S probably damaging Het
Chmp2a A T 7: 12,766,456 (GRCm39) F129I probably damaging Het
Clasp2 T A 9: 113,670,993 (GRCm39) W365R probably benign Het
Col12a1 T C 9: 79,584,556 (GRCm39) K1344R probably benign Het
Col3a1 A G 1: 45,360,728 (GRCm39) I53V unknown Het
Coro2b T C 9: 62,335,259 (GRCm39) Y309C probably damaging Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Crygs T A 16: 22,625,304 (GRCm39) T46S probably benign Het
Ctbp2 C G 7: 132,615,933 (GRCm39) R334P probably damaging Het
Dcstamp A T 15: 39,623,792 (GRCm39) D469V probably benign Het
Dhdh T C 7: 45,128,551 (GRCm39) D209G probably damaging Het
Dnah7b T C 1: 46,252,544 (GRCm39) V1742A possibly damaging Het
Dnaja2 T C 8: 86,265,982 (GRCm39) T368A probably benign Het
Dscaml1 T C 9: 45,643,466 (GRCm39) probably null Het
Eps8l1 A T 7: 4,481,886 (GRCm39) K704M unknown Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fgd4 T A 16: 16,254,461 (GRCm39) H524L probably benign Het
Fktn T A 4: 53,731,273 (GRCm39) F103I probably benign Het
Gcc2 T C 10: 58,110,822 (GRCm39) M1001T possibly damaging Het
Gm4847 T C 1: 166,467,582 (GRCm39) S205G possibly damaging Het
Grid2 A T 6: 63,907,968 (GRCm39) N203Y possibly damaging Het
Hif3a G A 7: 16,782,641 (GRCm39) A308V probably damaging Het
Htr5a A G 5: 28,047,838 (GRCm39) N131S possibly damaging Het
Igfn1 G A 1: 135,883,323 (GRCm39) Q2728* probably null Het
Ighv5-16 C A 12: 113,802,313 (GRCm39) K62N possibly damaging Het
Ip6k3 A T 17: 27,367,588 (GRCm39) Y203N possibly damaging Het
Itpkb G T 1: 180,160,056 (GRCm39) E61* probably null Het
Kcnj3 G A 2: 55,484,864 (GRCm39) V321M probably damaging Het
Kmt2c A G 5: 25,507,819 (GRCm39) L3206P probably damaging Het
Krtap5-4 T C 7: 141,857,908 (GRCm39) C193R unknown Het
Large1 G T 8: 73,564,106 (GRCm39) H553Q probably benign Het
Lrfn5 T A 12: 61,890,418 (GRCm39) V569D probably damaging Het
Luzp2 A G 7: 54,702,580 (GRCm39) T48A probably damaging Het
Lypd6 A T 2: 50,080,758 (GRCm39) T149S probably benign Het
Map3k1 T C 13: 111,890,296 (GRCm39) N1301S possibly damaging Het
Ndufv2 C T 17: 66,396,251 (GRCm39) W91* probably null Het
Nisch A T 14: 30,893,628 (GRCm39) V1315E probably damaging Het
Npas1 T C 7: 16,190,146 (GRCm39) I467V probably benign Het
Nucb1 A G 7: 45,144,202 (GRCm39) M337T probably benign Het
Oog3 T G 4: 143,884,489 (GRCm39) R482S probably benign Het
Or10d4b T C 9: 39,535,154 (GRCm39) L243P probably damaging Het
Or4f14c A T 2: 111,941,261 (GRCm39) M112K probably damaging Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Or56a42-ps1 A T 7: 104,775,985 (GRCm39) N164K probably benign Het
Padi2 T C 4: 140,662,036 (GRCm39) probably null Het
Pam C T 1: 97,768,469 (GRCm39) V660M possibly damaging Het
Phc2 C T 4: 128,641,012 (GRCm39) L700F probably damaging Het
Plekha1 T C 7: 130,479,494 (GRCm39) V4A possibly damaging Het
Rai1 A G 11: 60,080,142 (GRCm39) E1402G probably benign Het
Recql5 G A 11: 115,788,032 (GRCm39) A429V probably benign Het
Rere A G 4: 150,516,010 (GRCm39) N101S probably benign Het
Robo1 T G 16: 72,821,330 (GRCm39) S1357A possibly damaging Het
Rsl1 T A 13: 67,330,106 (GRCm39) Y185N probably damaging Het
Rsph3a T C 17: 8,165,074 (GRCm39) S145P possibly damaging Het
Sall1 T C 8: 89,757,506 (GRCm39) E866G probably damaging Het
Sall3 A T 18: 81,016,228 (GRCm39) S567T probably benign Het
Sap30 G A 8: 57,938,156 (GRCm39) Q154* probably null Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Scn8a A G 15: 100,937,947 (GRCm39) E1772G probably damaging Het
Scube3 C T 17: 28,375,772 (GRCm39) A169V probably damaging Het
Sema6c T C 3: 95,080,525 (GRCm39) S940P probably benign Het
Sertad4 C T 1: 192,528,836 (GRCm39) D327N probably damaging Het
Shisal2b A G 13: 105,000,296 (GRCm39) probably benign Het
Skp1 A G 11: 52,134,514 (GRCm39) T82A possibly damaging Het
Slc39a14 G T 14: 70,547,248 (GRCm39) T366K probably damaging Het
Snrnp200 G T 2: 127,067,959 (GRCm39) V819L probably damaging Het
Sntg1 T A 1: 8,433,749 (GRCm39) T501S unknown Het
Srsf12 T C 4: 33,231,249 (GRCm39) S253P possibly damaging Het
Sycp2l A G 13: 41,295,381 (GRCm39) S315G probably benign Het
Tars2 T C 3: 95,655,379 (GRCm39) Y337C probably damaging Het
Thbs4 T C 13: 92,898,022 (GRCm39) D599G probably benign Het
Tmem200c A G 17: 69,149,181 (GRCm39) H588R probably benign Het
Tmem255b T A 8: 13,506,005 (GRCm39) V204E probably damaging Het
Usp24 T A 4: 106,204,564 (GRCm39) M261K probably benign Het
Utrn T A 10: 12,497,123 (GRCm39) I2429F probably benign Het
Utrn C T 10: 12,539,189 (GRCm39) A1943T probably benign Het
Vmn2r85 A T 10: 130,261,694 (GRCm39) D214E probably damaging Het
Wdr81 G T 11: 75,340,213 (GRCm39) P183T Het
Zfp28 G A 7: 6,395,623 (GRCm39) R134H Het
Zfp532 T A 18: 65,756,308 (GRCm39) D80E possibly damaging Het
Zfyve26 T C 12: 79,334,418 (GRCm39) D200G probably benign 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
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
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'- CAAGAAGGCTCTATGCAAACACTG -3'
(R):5'- AATGCTTGTTCCGGGATATGC -3'

Sequencing Primer
(F):5'- AAACACTGCTGTTTTTCCTTGGATG -3'
(R):5'- CCGGGATATGCTATAGTATACTCC -3'
Posted On 2022-10-06