Incidental Mutation 'R7106:Itga3'
ID 551191
Institutional Source Beutler Lab
Gene Symbol Itga3
Ensembl Gene ENSMUSG00000001507
Gene Name integrin alpha 3
Synonyms VLA-3 alpha 3, alpha3-integrin
MMRRC Submission 045198-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7106 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 94935300-94967627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94946699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 737 (L737I)
Ref Sequence ENSEMBL: ENSMUSP00000113556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001548] [ENSMUST00000107739] [ENSMUST00000120375]
AlphaFold Q62470
Predicted Effect probably benign
Transcript: ENSMUST00000001548
AA Change: L737I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: L737I

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 benign
Transcript: ENSMUST00000107739
AA Change: L706I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: L706I

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 benign
Transcript: ENSMUST00000120375
AA Change: L737I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: L737I

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob T C 4: 49,541,258 (GRCm39) Y138C probably damaging Het
Ano7 A C 1: 93,302,705 (GRCm39) probably null Het
Arvcf T A 16: 18,217,799 (GRCm39) V497E probably damaging Het
Atad2 A G 15: 57,980,162 (GRCm39) probably null Het
Brinp1 C T 4: 68,747,615 (GRCm39) A163T probably benign Het
Catsperd C A 17: 56,965,070 (GRCm39) probably null Het
Ccm2l A G 2: 152,912,571 (GRCm39) H70R possibly damaging Het
Cgnl1 G A 9: 71,633,015 (GRCm39) T112I probably benign Het
Chid1 T C 7: 141,102,573 (GRCm39) H220R probably benign Het
Clca3a1 A G 3: 144,733,190 (GRCm39) V106A probably damaging Het
Cldn23 A C 8: 36,293,069 (GRCm39) S140A probably benign Het
Dennd2c T C 3: 103,038,893 (GRCm39) S14P possibly damaging Het
Det1 T C 7: 78,493,212 (GRCm39) D264G probably damaging Het
Dmwd T C 7: 18,814,454 (GRCm39) V368A probably damaging Het
Dnah11 T C 12: 117,924,884 (GRCm39) K3362E probably benign Het
Dnah8 T C 17: 30,960,152 (GRCm39) F2208L probably damaging Het
Dnaja3 T C 16: 4,523,798 (GRCm39) I477T probably benign Het
Dnmt3a A G 12: 3,947,591 (GRCm39) K482E probably damaging Het
Dock7 A G 4: 98,855,563 (GRCm39) I1493T unknown Het
Ehbp1l1 A G 19: 5,768,765 (GRCm39) V846A probably benign Het
Fbxl4 T A 4: 22,427,140 (GRCm39) probably null Het
Fgd2 T A 17: 29,595,944 (GRCm39) L534* probably null Het
Fgfr3 T C 5: 33,888,758 (GRCm39) V349A probably damaging Het
Gal3st1 A T 11: 3,948,509 (GRCm39) I239F probably damaging Het
Gpatch3 C A 4: 133,305,514 (GRCm39) H250N probably benign Het
Guca1b A T 17: 47,702,236 (GRCm39) K230* probably null Het
Kmt5c A G 7: 4,745,705 (GRCm39) K122E probably damaging Het
Kpna4 G A 3: 68,986,797 (GRCm39) Q531* probably null Het
Lctl A G 9: 64,040,119 (GRCm39) E410G probably benign Het
Lhx1 T C 11: 84,412,903 (GRCm39) N128D probably benign Het
Lifr A G 15: 7,202,405 (GRCm39) N349D probably benign Het
Map2 G A 1: 66,449,903 (GRCm39) A209T possibly damaging Het
Mif4gd G A 11: 115,502,737 (GRCm39) A25V probably damaging Het
Mug2 T C 6: 122,059,680 (GRCm39) S1353P probably damaging Het
Myh9 A G 15: 77,659,321 (GRCm39) C931R probably benign Het
Nelfe T G 17: 35,071,395 (GRCm39) probably null Het
Nrf1 A G 6: 30,102,183 (GRCm39) S161G probably benign Het
Pik3c2a G A 7: 116,017,368 (GRCm39) Q130* probably null Het
Prex2 T A 1: 11,207,017 (GRCm39) M525K probably benign Het
Psme2 A G 14: 55,825,694 (GRCm39) S165P probably benign Het
Rapgef2 A G 3: 78,973,915 (GRCm39) F1477S probably benign Het
Rasef A T 4: 73,645,864 (GRCm39) C502S probably damaging Het
Rpap2 T A 5: 107,780,988 (GRCm39) L565* probably null Het
Sav1 A G 12: 70,031,390 (GRCm39) I44T probably damaging Het
Selp T A 1: 163,953,991 (GRCm39) I97N probably benign Het
Serpina1d A G 12: 103,731,980 (GRCm39) F293S probably benign Het
Sin3b T C 8: 73,450,765 (GRCm39) F65L possibly damaging Het
Sorcs3 G C 19: 48,694,402 (GRCm39) G559R probably damaging Het
Susd2 A T 10: 75,473,887 (GRCm39) D689E probably damaging Het
Tas1r2 A T 4: 139,389,360 (GRCm39) M448L probably benign Het
Tbc1d30 A T 10: 121,137,897 (GRCm39) I181N possibly damaging Het
Tcea3 A G 4: 135,998,679 (GRCm39) T318A probably damaging Het
Tomm70a T C 16: 56,961,121 (GRCm39) V358A probably damaging Het
Tpp1 A C 7: 105,399,118 (GRCm39) S153A possibly damaging Het
Trip13 C T 13: 74,062,651 (GRCm39) V387I probably benign Het
Ttn T C 2: 76,627,832 (GRCm39) I14704V probably benign Het
Uimc1 C A 13: 55,198,628 (GRCm39) C516F possibly damaging Het
Vit A G 17: 78,894,228 (GRCm39) N210S probably benign Het
Vmn1r22 G T 6: 57,877,296 (GRCm39) T227K probably damaging Het
Vmn2r5 A G 3: 64,399,104 (GRCm39) I625T probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) probably benign Het
Zfp384 T C 6: 125,001,222 (GRCm39) L98P probably benign Het
Zfp809 G T 9: 22,147,520 (GRCm39) K51N probably benign 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
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'- GTACCCACAAGCTGAGCGAG -3'
(R):5'- CCCTGATGCTCGCCCTATAG -3'

Sequencing Primer
(F):5'- ACAAGCTGAGCGAGGCCTG -3'
(R):5'- TGCAACGATGTCCAGTGATC -3'
Posted On 2019-05-15