Incidental Mutation 'R9651:Itga2'
ID 727128
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 # R9651 (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: 99.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T C 8: 106,436,604 (GRCm39) S267P Het
Abca13 C T 11: 9,243,741 (GRCm39) P1868L probably benign Het
Abca13 A G 11: 9,535,484 (GRCm39) S4703G probably benign Het
Abca9 A T 11: 110,006,319 (GRCm39) M1262K probably benign Het
Acta1 A T 8: 124,619,431 (GRCm39) Y220* probably null Het
Actr6 A G 10: 89,564,877 (GRCm39) V24A probably damaging Het
Adam30 T C 3: 98,069,936 (GRCm39) Y590H possibly damaging Het
Akap8l T C 17: 32,557,783 (GRCm39) N35D probably damaging Het
Ankle2 A G 5: 110,385,661 (GRCm39) I337V probably benign Het
Arid2 T C 15: 96,256,822 (GRCm39) V220A probably benign Het
Atp8b2 T C 3: 89,865,603 (GRCm39) D99G probably damaging Het
Baz1b A T 5: 135,252,022 (GRCm39) H940L probably benign Het
Cacna1d C T 14: 29,764,881 (GRCm39) V2017I probably benign Het
Ccn1 G T 3: 145,354,583 (GRCm39) N109K probably damaging Het
Cd226 T A 18: 89,265,395 (GRCm39) C224* probably null Het
Cdrt4 T A 11: 62,883,466 (GRCm39) I56N possibly damaging Het
Ces3b G T 8: 105,812,257 (GRCm39) A169S probably damaging Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Cryz A G 3: 154,327,765 (GRCm39) Q289R probably benign Het
Csn1s2b T A 5: 87,968,820 (GRCm39) M94K probably benign Het
Ctnnd1 T C 2: 84,439,899 (GRCm39) K804E possibly damaging Het
Cwh43 T C 5: 73,572,340 (GRCm39) S193P probably benign Het
Dcstamp A T 15: 39,623,792 (GRCm39) D469V probably benign Het
Dffa A G 4: 149,190,674 (GRCm39) T68A probably damaging Het
Dnah2 C T 11: 69,341,824 (GRCm39) probably null Het
Dst T A 1: 34,219,458 (GRCm39) I1966N probably benign Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Epn3 C T 11: 94,383,687 (GRCm39) probably null Het
Fem1c A T 18: 46,657,674 (GRCm39) D13E Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Fpr2 T A 17: 18,113,484 (GRCm39) I160N probably benign Het
Gabra1 A G 11: 42,045,853 (GRCm39) Y86H probably damaging Het
Gabrb3 T C 7: 57,415,202 (GRCm39) Y91H probably damaging Het
Gcn1 T C 5: 115,747,665 (GRCm39) probably null Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Gpr152 T G 19: 4,192,614 (GRCm39) W52G probably damaging Het
Hsd17b12 A G 2: 93,988,081 (GRCm39) V45A probably benign Het
Htr5a A G 5: 28,047,838 (GRCm39) N131S possibly damaging Het
Il16 T A 7: 83,332,064 (GRCm39) N172I probably damaging Het
Itpkb G T 1: 180,160,056 (GRCm39) E61* probably null Het
Lama1 T C 17: 68,101,215 (GRCm39) S1903P Het
Llgl2 A T 11: 115,742,941 (GRCm39) probably null Het
Mical1 A T 10: 41,362,022 (GRCm39) probably null Het
Muc2 C T 7: 141,288,014 (GRCm39) P262S probably damaging Het
Myo9a A G 9: 59,778,764 (GRCm39) R1507G probably damaging Het
Ndst1 G A 18: 60,833,539 (GRCm39) H491Y probably damaging Het
Nfasc T C 1: 132,527,791 (GRCm39) T872A probably benign Het
Nipal3 A T 4: 135,174,634 (GRCm39) C372* probably null Het
Nmrk1 A G 19: 18,616,929 (GRCm39) H26R probably benign Het
Nubp2 G A 17: 25,103,382 (GRCm39) T165I probably damaging Het
Or2m12 C T 16: 19,105,489 (GRCm39) M1I probably null Het
Or51d1 T A 7: 102,347,832 (GRCm39) M129K probably damaging Het
Or5au1 T C 14: 52,273,205 (GRCm39) D121G probably damaging Het
Or5b102 T G 19: 13,041,256 (GRCm39) D160E probably benign Het
P2ry12 T C 3: 59,134,931 (GRCm39) probably benign Het
Pax8 T A 2: 24,331,173 (GRCm39) D174V probably damaging Het
Pbxip1 A G 3: 89,352,795 (GRCm39) D147G probably damaging Het
Pnpla7 T C 2: 24,892,931 (GRCm39) S451P probably benign Het
Polm A G 11: 5,781,732 (GRCm39) Y255H probably damaging Het
Polr1has C T 17: 37,276,353 (GRCm39) Q242* probably null Het
Rdh14 T A 12: 10,441,118 (GRCm39) C93* probably null Het
Rnf213 C A 11: 119,331,238 (GRCm39) S2150Y Het
Rpap1 G A 2: 119,598,484 (GRCm39) P1111L probably damaging Het
Rpl3l T A 17: 24,947,328 (GRCm39) L14Q probably damaging Het
Sbp A G 17: 24,164,419 (GRCm39) *200W probably null Het
Scn10a A G 9: 119,439,063 (GRCm39) M1601T probably benign Het
Sertad4 C T 1: 192,528,836 (GRCm39) D327N probably damaging Het
Slc4a1 A T 11: 102,242,256 (GRCm39) I821N probably damaging Het
Spaca6 T A 17: 18,057,829 (GRCm39) D164E probably benign Het
Synj1 T C 16: 90,735,412 (GRCm39) T1514A probably benign Het
Synj1 C T 16: 90,757,343 (GRCm39) V902I possibly damaging Het
Tctn1 A G 5: 122,384,576 (GRCm39) Y443H probably benign Het
Thoc5 C T 11: 4,849,883 (GRCm39) R25W possibly damaging Het
Tmem200c A G 17: 69,149,181 (GRCm39) H588R probably benign Het
Trim45 C T 3: 100,832,705 (GRCm39) Q313* probably null Het
Ubqlnl T C 7: 103,799,122 (GRCm39) D125G possibly damaging Het
Ubr4 A T 4: 139,206,859 (GRCm39) E4926V unknown Het
Usp5 T C 6: 124,799,501 (GRCm39) D349G possibly damaging Het
Vmn1r25 T A 6: 57,956,306 (GRCm39) probably benign Het
Xirp2 A G 2: 67,344,167 (GRCm39) Q2136R possibly damaging Het
Zfp28 G A 7: 6,395,623 (GRCm39) R134H Het
Zfp712 A G 13: 67,188,824 (GRCm39) S568P 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
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'- GAAGGCTCTATGCAAACACTG -3'
(R):5'- ATAATGCTTGTTCCGGGATATGC -3'

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