Incidental Mutation 'R7164:Itga3'
ID 557816
Institutional Source Beutler Lab
Gene Symbol Itga3
Ensembl Gene ENSMUSG00000001507
Gene Name integrin alpha 3
Synonyms VLA-3 alpha 3, alpha3-integrin
MMRRC Submission 045331-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7164 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 94935300-94967627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94943305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 931 (V931M)
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: V931M

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: V931M

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: V900M

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: V900M

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: V931M

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: V931M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (59/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 G A 13: 12,293,847 (GRCm39) H558Y probably damaging Het
Ajm1 T A 2: 25,468,579 (GRCm39) H444L possibly damaging Het
Akap9 G C 5: 4,110,364 (GRCm39) E3022D probably damaging Het
Anapc2 C T 2: 25,175,011 (GRCm39) R710C probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Carmil3 A G 14: 55,738,739 (GRCm39) E844G probably damaging Het
Cdk17 T G 10: 93,068,343 (GRCm39) S367A probably benign Het
Cfap206 T A 4: 34,719,656 (GRCm39) M253L probably benign Het
Chd3 T G 11: 69,253,132 (GRCm39) K228Q probably damaging Het
Cit T A 5: 116,123,846 (GRCm39) I1503N possibly damaging Het
Csn1s1 A G 5: 87,822,087 (GRCm39) N119S possibly damaging Het
Czib C A 4: 107,752,087 (GRCm39) D155E not run Het
Degs1 A G 1: 182,106,690 (GRCm39) S226P probably damaging Het
Espl1 T C 15: 102,221,638 (GRCm39) W976R probably damaging Het
Fbxl4 C T 4: 22,386,218 (GRCm39) P275L probably benign Het
Flnb A G 14: 7,915,944 (GRCm38) probably null Het
Gnptab T A 10: 88,269,932 (GRCm39) Y878* probably null Het
Gpr89 A T 3: 96,778,714 (GRCm39) M453K probably benign Het
Igsf5 A T 16: 96,174,048 (GRCm39) Q26L possibly damaging Het
Inpp5e T A 2: 26,297,995 (GRCm39) D202V possibly damaging Het
Kcnab3 T C 11: 69,222,184 (GRCm39) probably null Het
Klk4 T C 7: 43,531,122 (GRCm39) I17T possibly damaging Het
Lrrc73 T C 17: 46,567,169 (GRCm39) L206P probably damaging Het
Manba A T 3: 135,248,149 (GRCm39) N346I probably damaging Het
Map4k4 T C 1: 40,013,132 (GRCm39) Y76H possibly damaging Het
Map4k5 T C 12: 69,877,210 (GRCm39) T312A probably benign Het
Masp2 A G 4: 148,694,572 (GRCm39) probably null Het
Mast1 T C 8: 85,661,933 (GRCm39) D63G possibly damaging Het
Mtf2 T A 5: 108,241,235 (GRCm39) S254T possibly damaging Het
Myo16 A T 8: 10,619,585 (GRCm39) T1379S unknown Het
Myo5a A G 9: 75,087,435 (GRCm39) E1097G probably benign Het
Nat1 T C 8: 67,944,329 (GRCm39) V238A possibly damaging Het
Nhlrc2 A G 19: 56,580,931 (GRCm39) D493G probably damaging Het
Or10ak9 C T 4: 118,726,922 (GRCm39) P315S probably benign Het
Or1j21 T C 2: 36,683,709 (GRCm39) S154P probably benign Het
Or5ae2 A G 7: 84,506,251 (GRCm39) I227V possibly damaging Het
Or5b108 A T 19: 13,168,270 (GRCm39) M80L probably benign Het
Or5d20-ps1 T C 2: 87,932,176 (GRCm39) K52E probably damaging Het
Or8g51 A G 9: 38,609,515 (GRCm39) I49T possibly damaging Het
Pcsk5 C T 19: 17,429,349 (GRCm39) C1543Y probably damaging Het
Pde4d A G 13: 109,169,222 (GRCm39) D88G probably benign Het
Pld5 A T 1: 176,041,187 (GRCm39) M1K probably null Het
Prmt6 A G 3: 110,157,680 (GRCm39) M203T probably benign Het
Prr14l A T 5: 32,986,510 (GRCm39) V995D probably damaging Het
Psg18 T C 7: 18,084,862 (GRCm39) E199G possibly damaging Het
Pth1r A G 9: 110,552,815 (GRCm39) I439T possibly damaging Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Slc44a1 T C 4: 53,528,711 (GRCm39) S154P probably benign Het
Slco1c1 T A 6: 141,487,855 (GRCm39) Y192* probably null Het
Spag16 A G 1: 70,764,025 (GRCm39) H615R possibly damaging Het
Spata31h1 G A 10: 82,122,063 (GRCm39) T3649I probably damaging Het
Tas2r114 G A 6: 131,666,728 (GRCm39) A100V possibly damaging Het
U2af1l4 T C 7: 30,264,544 (GRCm39) S103P probably benign Het
Usp10 T C 8: 120,668,847 (GRCm39) S383P probably damaging Het
Vmn2r113 A G 17: 23,167,137 (GRCm39) R505G probably benign Het
Vmn2r75 A C 7: 85,814,592 (GRCm39) D300E probably damaging Het
Zfp318 T A 17: 46,708,232 (GRCm39) probably null Het
Zfp318 T C 17: 46,716,865 (GRCm39) V999A probably damaging Het
Zfp324 A T 7: 12,702,810 (GRCm39) H58L probably damaging Het
Zfp707 A G 15: 75,846,967 (GRCm39) E339G possibly 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
R2062:Itga3 UTSW 11 94,944,902 (GRCm39) missense possibly damaging 0.92
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
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'- GTGGTCACAGTAACAGACACAC -3'
(R):5'- TCCGAGAGTCCATCTTGCATG -3'

Sequencing Primer
(F):5'- CAACTGTGCAGAACATGATACC -3'
(R):5'- ATGTCACTCCAGGCTGGGATG -3'
Posted On 2019-06-26