Incidental Mutation 'R2062:Itga3'
ID 228783
Institutional Source Beutler Lab
Gene Symbol Itga3
Ensembl Gene ENSMUSG00000001507
Gene Name integrin alpha 3
Synonyms VLA-3 alpha 3, alpha3-integrin
MMRRC Submission 040067-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2062 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94935300-94967627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94944902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 802 (Q802L)
Ref Sequence ENSEMBL: ENSMUSP00000113556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001548] [ENSMUST00000107739] [ENSMUST00000120375]
AlphaFold Q62470
Predicted Effect possibly damaging
Transcript: ENSMUST00000001548
AA Change: Q802L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: Q802L

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Int_alpha 48 110 4.18e-7 SMART
Int_alpha 246 300 5.01e0 SMART
Int_alpha 304 361 3.07e-14 SMART
Int_alpha 366 419 4.17e-16 SMART
Int_alpha 427 483 7.57e1 SMART
low complexity region 521 534 N/A INTRINSIC
SCOP:d1m1xa3 758 984 7e-54 SMART
transmembrane domain 994 1016 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107739
AA Change: Q771L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: Q771L

DomainStartEndE-ValueType
Int_alpha 20 79 1.05e2 SMART
Int_alpha 215 269 5.01e0 SMART
Int_alpha 273 330 3.07e-14 SMART
Int_alpha 335 388 4.17e-16 SMART
Int_alpha 396 452 7.57e1 SMART
low complexity region 490 503 N/A INTRINSIC
low complexity region 775 789 N/A INTRINSIC
transmembrane domain 963 985 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000120375
AA Change: Q802L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: Q802L

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Int_alpha 48 110 4.18e-7 SMART
Int_alpha 246 300 5.01e0 SMART
Int_alpha 304 361 3.07e-14 SMART
Int_alpha 366 419 4.17e-16 SMART
Int_alpha 427 483 7.57e1 SMART
low complexity region 521 534 N/A INTRINSIC
SCOP:d1m1xa3 758 984 2e-53 SMART
transmembrane domain 994 1016 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141693
Meta Mutation Damage Score 0.1337 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (84/85)
MGI Phenotype FUNCTION: This gene encodes a subunit of integrin family of cell surface proteins. The encoded protein undergoes post-translational processing to form a disulfide bond-linked dimer comprised of heavy and light chains. At the cell surface, the encoded protein non-covalently associates with the integrin beta-1 subunit to form a heterodimer that interacts with many extracellular matrix proteins including fibronectin and laminin. Mice lacking the encoded protein die during the first day after birth due to severe abnormalities in kidneys. Mice lacking the encoded protein specifically in the basal layer of epidermis display several skin defects and accelerated wound healing. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the kidney and submandibular gland, decreased bronchial branching of the lungs, skin blisters at the dermal-epidermal junction, abnormal layering of the cerebral cortex and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
A2ml1 A T 6: 128,529,271 (GRCm39) M957K probably benign Het
Adam7 C A 14: 68,742,610 (GRCm39) V668F probably benign Het
Adcy7 T G 8: 89,038,902 (GRCm39) L306R probably damaging Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Ano7 T C 1: 93,318,035 (GRCm39) V249A probably benign Het
Aox1 T C 1: 58,098,351 (GRCm39) probably null Het
Asah2 A T 19: 32,002,274 (GRCm39) V290E probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Atxn2l T A 7: 126,095,038 (GRCm39) K421N probably damaging Het
Cars2 T C 8: 11,597,747 (GRCm39) I110V probably damaging Het
Ccdc74a A G 16: 17,467,890 (GRCm39) N249S probably benign Het
Cenpe T C 3: 134,928,082 (GRCm39) probably benign Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cnep1r1 G T 8: 88,845,445 (GRCm39) probably benign Het
Cyp2d37-ps C T 15: 82,574,289 (GRCm39) noncoding transcript Het
Cyp3a25 A G 5: 145,923,779 (GRCm39) probably benign Het
Dis3l G T 9: 64,246,855 (GRCm39) Q67K probably benign Het
Dnah1 A G 14: 30,993,086 (GRCm39) V2936A probably damaging Het
Dnah5 C T 15: 28,366,416 (GRCm39) R2710C probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Dvl3 G A 16: 20,345,101 (GRCm39) S361N probably benign Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Eif2ak3 T C 6: 70,881,181 (GRCm39) V1085A probably benign Het
Eif3b T C 5: 140,412,208 (GRCm39) Y226H probably damaging Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Ercc1 A G 7: 19,088,295 (GRCm39) *37W probably null Het
Evi2a G A 11: 79,418,593 (GRCm39) Q6* probably null Het
Faah C T 4: 115,855,770 (GRCm39) V552M probably damaging Het
Fat1 T A 8: 45,477,369 (GRCm39) N2138K probably damaging Het
Fat1 T A 8: 45,479,741 (GRCm39) V2929E probably damaging Het
Gm2959 A G 14: 42,235,658 (GRCm39) noncoding transcript Het
Gm6327 A T 16: 12,578,979 (GRCm39) noncoding transcript Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hspg2 A T 4: 137,286,678 (GRCm39) T3666S possibly damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Iqgap1 G A 7: 80,373,727 (GRCm39) Q1421* probably null Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lztr1 T C 16: 17,327,534 (GRCm39) V79A probably damaging Het
Mast4 C T 13: 102,895,601 (GRCm39) E736K probably benign Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Myof A G 19: 37,904,194 (GRCm39) V2A possibly damaging Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Nav3 G A 10: 109,555,882 (GRCm39) T1683M probably damaging Het
Nbea A G 3: 55,993,578 (GRCm39) probably benign Het
Nebl A T 2: 17,401,932 (GRCm39) M427K probably benign Het
Ngdn T C 14: 55,259,564 (GRCm39) V205A possibly damaging Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or10j3b T C 1: 173,043,277 (GRCm39) F20L probably benign Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2w3 G T 11: 58,556,808 (GRCm39) C141F probably damaging Het
Or5m9 A G 2: 85,877,299 (GRCm39) T158A probably damaging Het
Or6c205 T A 10: 129,087,001 (GRCm39) Y199* probably null Het
Park7 T C 4: 150,989,732 (GRCm39) N76S probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pkhd1 A G 1: 20,271,559 (GRCm39) I2998T probably damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Ppard A G 17: 28,518,663 (GRCm39) H388R probably damaging Het
Psma1 A G 7: 113,869,001 (GRCm39) S142P possibly damaging Het
Pth2r T C 1: 65,382,721 (GRCm39) I158T probably damaging Het
Rbl2 C A 8: 91,833,367 (GRCm39) P714Q probably damaging Het
Rexo2 A T 9: 48,385,813 (GRCm39) S104T possibly damaging Het
Sema5a T C 15: 32,609,363 (GRCm39) probably benign Het
Spmip10 C T 18: 56,721,535 (GRCm39) Q25* probably null Het
Sun2 A G 15: 79,622,852 (GRCm39) L109P probably damaging Het
Tdg A G 10: 82,477,368 (GRCm39) T116A probably benign Het
Terb1 A T 8: 105,195,380 (GRCm39) M587K possibly damaging Het
Tmcc1 C T 6: 116,020,019 (GRCm39) V118M probably benign Het
Tnfsf11 T A 14: 78,516,362 (GRCm39) N202I probably damaging Het
Togaram2 T C 17: 72,023,360 (GRCm39) S759P probably benign Het
Ttc7b G A 12: 100,291,948 (GRCm39) A208V probably damaging Het
Tti2 T C 8: 31,644,338 (GRCm39) probably benign Het
Wnk1 T C 6: 119,905,118 (GRCm39) probably null Het
Zfyve26 T C 12: 79,330,806 (GRCm39) probably null Het
Zfyve28 T C 5: 34,391,681 (GRCm39) M157V probably null Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R probably damaging Het
Other mutations in Itga3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Itga3 APN 11 94,956,712 (GRCm39) missense probably damaging 1.00
IGL02020:Itga3 APN 11 94,948,216 (GRCm39) missense probably benign 0.02
IGL02413:Itga3 APN 11 94,959,597 (GRCm39) missense probably damaging 1.00
IGL02562:Itga3 APN 11 94,959,619 (GRCm39) missense probably benign 0.02
PIT4508001:Itga3 UTSW 11 94,946,719 (GRCm39) missense probably benign 0.20
R0485:Itga3 UTSW 11 94,952,796 (GRCm39) missense probably benign 0.05
R1548:Itga3 UTSW 11 94,937,745 (GRCm39) critical splice donor site probably null
R1677:Itga3 UTSW 11 94,946,585 (GRCm39) missense probably damaging 0.96
R2088:Itga3 UTSW 11 94,943,320 (GRCm39) missense probably benign 0.10
R2679:Itga3 UTSW 11 94,959,136 (GRCm39) splice site probably benign
R3697:Itga3 UTSW 11 94,953,551 (GRCm39) missense probably benign 0.00
R3839:Itga3 UTSW 11 94,948,095 (GRCm39) critical splice donor site probably null
R4210:Itga3 UTSW 11 94,953,449 (GRCm39) missense probably benign 0.00
R4533:Itga3 UTSW 11 94,948,119 (GRCm39) missense probably benign 0.15
R4849:Itga3 UTSW 11 94,967,097 (GRCm39) missense probably benign
R4863:Itga3 UTSW 11 94,952,793 (GRCm39) missense probably damaging 1.00
R4889:Itga3 UTSW 11 94,959,127 (GRCm39) missense probably benign 0.13
R5218:Itga3 UTSW 11 94,953,574 (GRCm39) missense probably benign 0.01
R6046:Itga3 UTSW 11 94,953,541 (GRCm39) missense probably benign 0.28
R6087:Itga3 UTSW 11 94,943,269 (GRCm39) critical splice donor site probably null
R6210:Itga3 UTSW 11 94,959,717 (GRCm39) intron probably benign
R6341:Itga3 UTSW 11 94,946,677 (GRCm39) splice site probably null
R6666:Itga3 UTSW 11 94,956,652 (GRCm39) missense probably benign 0.00
R6998:Itga3 UTSW 11 94,942,288 (GRCm39) missense probably benign 0.00
R7106:Itga3 UTSW 11 94,946,699 (GRCm39) missense probably benign 0.00
R7164:Itga3 UTSW 11 94,943,305 (GRCm39) missense possibly damaging 0.85
R7267:Itga3 UTSW 11 94,967,188 (GRCm39) intron probably benign
R7421:Itga3 UTSW 11 94,959,681 (GRCm39) missense probably benign 0.20
R7514:Itga3 UTSW 11 94,956,722 (GRCm39) nonsense probably null
R7533:Itga3 UTSW 11 94,937,344 (GRCm39) missense probably benign 0.45
R7736:Itga3 UTSW 11 94,967,029 (GRCm39) missense probably damaging 1.00
R8145:Itga3 UTSW 11 94,943,290 (GRCm39) missense probably damaging 1.00
R8303:Itga3 UTSW 11 94,953,466 (GRCm39) missense probably benign 0.42
R8459:Itga3 UTSW 11 94,959,633 (GRCm39) missense probably benign
R8464:Itga3 UTSW 11 94,953,566 (GRCm39) missense probably benign 0.28
R8951:Itga3 UTSW 11 94,944,911 (GRCm39) missense probably damaging 0.99
R8984:Itga3 UTSW 11 94,953,391 (GRCm39) missense probably damaging 1.00
R9262:Itga3 UTSW 11 94,956,625 (GRCm39) missense probably benign 0.09
R9695:Itga3 UTSW 11 94,946,520 (GRCm39) critical splice donor site probably null
Z1177:Itga3 UTSW 11 94,947,600 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGACCTAGAACCAGTGTG -3'
(R):5'- AATGTAGGCAACCCGCATCC -3'

Sequencing Primer
(F):5'- CTAGAACCAGTGTGCCCAAGG -3'
(R):5'- CACACTGCAGTCCCCTCTGG -3'
Posted On 2014-09-17