Incidental Mutation 'R7514:Itga3'
ID 582331
Institutional Source Beutler Lab
Gene Symbol Itga3
Ensembl Gene ENSMUSG00000001507
Gene Name integrin alpha 3
Synonyms VLA-3 alpha 3, alpha3-integrin
MMRRC Submission 045587-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7514 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94935300-94967627 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 94956722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 177 (W177*)
Ref Sequence ENSEMBL: ENSMUSP00000113556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001548] [ENSMUST00000107739] [ENSMUST00000120375]
AlphaFold Q62470
Predicted Effect probably null
Transcript: ENSMUST00000001548
AA Change: W177*
SMART Domains Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: W177*

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 probably null
Transcript: ENSMUST00000107739
AA Change: W146*
SMART Domains Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: W146*

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 probably null
Transcript: ENSMUST00000120375
AA Change: W177*
SMART Domains Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: W177*

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 probably null
Transcript: ENSMUST00000145671
AA Change: W118*
SMART Domains Protein: ENSMUSP00000115970
Gene: ENSMUSG00000001507
AA Change: W118*

DomainStartEndE-ValueType
Blast:Int_alpha 6 52 3e-22 BLAST
SCOP:d1m1xa4 8 182 3e-24 SMART
PDB:4IRZ|A 12 168 2e-8 PDB
Blast:Int_alpha 55 88 2e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A G 11: 72,086,628 (GRCm39) L261P probably damaging Het
A4gnt A G 9: 99,502,598 (GRCm39) I253V probably benign Het
AAdacl4fm3 A T 4: 144,429,798 (GRCm39) V397D possibly damaging Het
Acap2 A T 16: 30,973,385 (GRCm39) probably null Het
Adora2b G T 11: 62,156,146 (GRCm39) M198I probably damaging Het
Akap5 C A 12: 76,375,303 (GRCm39) T245K probably benign Het
Aldh1a2 T C 9: 71,192,245 (GRCm39) I399T probably damaging Het
Ank2 G A 3: 126,819,252 (GRCm39) S473L probably benign Het
Anln A T 9: 22,272,153 (GRCm39) D655E probably damaging Het
Arhgef10 T C 8: 15,025,956 (GRCm39) V820A probably benign Het
Arid1b A G 17: 5,391,989 (GRCm39) K1787E probably benign Het
Art4 T C 6: 136,831,739 (GRCm39) H134R probably benign Het
Borcs6 G A 11: 68,951,410 (GRCm39) V263M probably damaging Het
C8a A T 4: 104,703,247 (GRCm39) M314K possibly damaging Het
Cbfa2t3 T G 8: 123,361,865 (GRCm39) M386L probably damaging Het
Ccdc170 T A 10: 4,496,839 (GRCm39) V459E probably benign Het
Cdh4 T A 2: 179,532,636 (GRCm39) N699K possibly damaging Het
Cdk12 T C 11: 98,113,484 (GRCm39) L756P unknown Het
Chsy1 A G 7: 65,821,868 (GRCm39) D701G probably damaging Het
Cnot9 A G 1: 74,567,921 (GRCm39) T270A probably benign Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csnk2a1-ps3 A G 1: 156,352,324 (GRCm39) D175G probably benign Het
Cyb5r1 A G 1: 134,338,268 (GRCm39) E228G probably damaging Het
D630003M21Rik A G 2: 158,059,273 (GRCm39) L209P probably damaging Het
Dennd2c T A 3: 103,070,378 (GRCm39) D791E probably benign Het
Dnah14 T C 1: 181,455,632 (GRCm39) I919T probably damaging Het
Dpp8 T C 9: 64,986,036 (GRCm39) L842S probably damaging Het
Ern1 A G 11: 106,300,719 (GRCm39) probably null Het
Exo1 T C 1: 175,734,232 (GRCm39) probably null Het
Fam161b T G 12: 84,404,512 (GRCm39) E56A possibly damaging Het
Fbrsl1 T C 5: 110,580,799 (GRCm39) T153A probably benign Het
Fcgr3 T G 1: 170,886,912 (GRCm39) D4A probably benign Het
Gltp C T 5: 114,808,521 (GRCm39) A193T probably benign Het
Gm3159 A T 14: 4,399,690 (GRCm38) S142C probably damaging Het
Gphn T C 12: 78,672,939 (GRCm39) V485A probably damaging Het
Grik2 A T 10: 49,399,904 (GRCm39) N275K probably damaging Het
Gstt3 G T 10: 75,612,625 (GRCm39) Q102K probably damaging Het
Hivep3 T A 4: 119,954,052 (GRCm39) F789L possibly damaging Het
Ing5 A G 1: 93,744,164 (GRCm39) N157D possibly damaging Het
Jag2 T C 12: 112,892,672 (GRCm39) T83A probably benign Het
Krt90 G A 15: 101,461,605 (GRCm39) T532I unknown Het
Lcn2 A G 2: 32,277,861 (GRCm39) probably null Het
Lrig2 A G 3: 104,373,076 (GRCm39) S602P probably damaging Het
Lsm1 A C 8: 26,282,237 (GRCm39) R33S probably damaging Het
Mast4 A T 13: 102,923,934 (GRCm39) Y492* probably null Het
Mcm3 A T 1: 20,876,120 (GRCm39) L658Q probably benign Het
Myh4 G A 11: 67,134,148 (GRCm39) probably null Het
Nck2 T C 1: 43,608,381 (GRCm39) V341A probably benign Het
Nucb1 T C 7: 45,151,142 (GRCm39) probably null Het
Nup210l G C 3: 90,117,766 (GRCm39) probably null Het
Or1j1 A G 2: 36,702,651 (GRCm39) I151T probably benign Het
Or5al5 A T 2: 85,961,972 (GRCm39) F12I probably damaging Het
Or7g22 A T 9: 19,049,161 (GRCm39) S291C possibly damaging Het
Or8b48 T A 9: 38,493,347 (GRCm39) M258K probably damaging Het
Or8b54 G A 9: 38,686,974 (GRCm39) C141Y probably damaging Het
Pla2g4a G A 1: 149,727,113 (GRCm39) P556S probably damaging Het
Plat T C 8: 23,265,658 (GRCm39) C234R probably damaging Het
Ppfia1 T C 7: 144,071,450 (GRCm39) I321V probably benign Het
Prrc1 T A 18: 57,496,325 (GRCm39) V92E probably benign Het
Prss3 A G 6: 41,350,848 (GRCm39) V214A probably damaging Het
Ptprg G T 14: 12,179,342 (GRCm38) K786N possibly damaging Het
Rabgap1 G T 2: 37,427,354 (GRCm39) G645V probably damaging Het
Rfx4 T C 10: 84,716,090 (GRCm39) S470P probably damaging Het
Rin3 C T 12: 102,335,909 (GRCm39) Q607* probably null Het
Sema3a A G 5: 13,573,093 (GRCm39) H207R probably benign Het
Serpinb12 G A 1: 106,878,534 (GRCm39) E181K probably damaging Het
Serpinb6c G A 13: 34,081,386 (GRCm39) Q88* probably null Het
Shmt1 A C 11: 60,692,812 (GRCm39) C90W probably damaging Het
Slc16a13 C T 11: 70,109,710 (GRCm39) V264M probably damaging Het
Slc17a8 G T 10: 89,427,969 (GRCm39) P286Q probably damaging Het
Slc27a6 C T 18: 58,745,293 (GRCm39) Q576* probably null Het
Slc30a9 T C 5: 67,505,421 (GRCm39) S470P possibly damaging Het
Slc44a2 G T 9: 21,253,768 (GRCm39) K136N possibly damaging Het
Smarca5 A T 8: 81,444,163 (GRCm39) H534Q probably damaging Het
Son T G 16: 91,451,748 (GRCm39) L165R probably damaging Het
Sox10 G A 15: 79,040,421 (GRCm39) P373L probably benign Het
Sp100 C T 1: 85,608,860 (GRCm39) R330* probably null Het
Srrm4 A G 5: 116,584,570 (GRCm39) L500P probably damaging Het
Tap1 T C 17: 34,415,639 (GRCm39) L689P probably damaging Het
Tfg A G 16: 56,525,972 (GRCm39) probably null Het
Tjp2 C T 19: 24,088,886 (GRCm39) V677I probably benign Het
Tmprss11g T G 5: 86,645,176 (GRCm39) D85A probably damaging Het
Tnfsf9 T C 17: 57,414,238 (GRCm39) S222P probably damaging Het
Trank1 A G 9: 111,193,824 (GRCm39) N616S probably damaging Het
Tubgcp6 C A 15: 89,004,728 (GRCm39) W297L probably damaging Het
Twist1 T C 12: 34,008,355 (GRCm39) S127P probably damaging Het
Ubr4 T C 4: 139,179,966 (GRCm39) I247T unknown Het
Ubr5 G A 15: 37,988,481 (GRCm39) T2153M Het
Utrn A G 10: 12,573,833 (GRCm39) V1079A probably benign Het
Vcan T C 13: 89,852,237 (GRCm39) T908A probably damaging Het
Vmn2r104 A G 17: 20,249,791 (GRCm39) F827L probably damaging Het
Vmn2r111 T A 17: 22,767,380 (GRCm39) T706S probably benign Het
Vmn2r114 T C 17: 23,527,035 (GRCm39) D499G probably null Het
Vmn2r92 T C 17: 18,391,533 (GRCm39) S512P probably damaging Het
Vps4b A T 1: 106,708,232 (GRCm39) probably null Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wnt10b T C 15: 98,672,045 (GRCm39) Q224R probably benign Het
Ylpm1 C T 12: 85,077,268 (GRCm39) P1331L possibly damaging Het
Zfhx4 G A 3: 5,307,267 (GRCm39) M164I possibly damaging Het
Zfp51 A G 17: 21,683,762 (GRCm39) T126A probably benign Het
Zfp609 A G 9: 65,613,418 (GRCm39) V339A probably benign Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Zfyve21 C T 12: 111,790,249 (GRCm39) L84F 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
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
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
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'- CTGTGGCTTACTGACAGGTAG -3'
(R):5'- GACTCACAAAGCCAGCAGTG -3'

Sequencing Primer
(F):5'- ACAGGTAGTCTCCGTAGCAC -3'
(R):5'- GCTATAGCTTGCCATAGGTTCC -3'
Posted On 2019-10-17