Incidental Mutation 'R4889:Itga3'
ID 377207
Institutional Source Beutler Lab
Gene Symbol Itga3
Ensembl Gene ENSMUSG00000001507
Gene Name integrin alpha 3
Synonyms VLA-3 alpha 3, alpha3-integrin
MMRRC Submission 042494-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4889 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94935300-94967627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94959127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 113 (D113G)
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: D113G

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: D113G

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: D82G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: D82G

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: D113G

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: D113G

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 unknown
Transcript: ENSMUST00000145671
AA Change: D54G
SMART Domains Protein: ENSMUSP00000115970
Gene: ENSMUSG00000001507
AA Change: D54G

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
Meta Mutation Damage Score 0.2011 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (59/60)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado G C 10: 67,384,135 (GRCm39) R157G probably benign Het
Akap12 C A 10: 4,306,535 (GRCm39) A1115E probably damaging Het
Ankhd1 A G 18: 36,711,787 (GRCm39) M196V probably null Het
Appl2 G A 10: 83,476,922 (GRCm39) T34I probably damaging Het
Arhgap21 T C 2: 20,885,279 (GRCm39) S472G probably benign Het
Asmt G T X: 169,110,764 (GRCm39) R250L possibly damaging Het
Baz2b A T 2: 59,767,070 (GRCm39) I870N probably damaging Het
Card11 T C 5: 140,871,700 (GRCm39) Q667R possibly damaging Het
Cercam A G 2: 29,771,845 (GRCm39) D555G probably damaging Het
Cop1 A T 1: 159,112,159 (GRCm39) R284S probably damaging Het
Cr2 A G 1: 194,858,893 (GRCm39) V9A possibly damaging Het
Ctsm A G 13: 61,686,215 (GRCm39) F106S probably damaging Het
Dhx9 A T 1: 153,356,895 (GRCm39) L118Q probably damaging Het
Dnah5 G T 15: 28,235,938 (GRCm39) C355F probably benign Het
Dock1 C A 7: 134,346,705 (GRCm39) N212K probably benign Het
Efemp2 T A 19: 5,525,148 (GRCm39) L18Q probably null Het
Flvcr1 A G 1: 190,757,764 (GRCm39) L176P probably damaging Het
Gm16505 A T 13: 3,411,125 (GRCm39) noncoding transcript Het
Gm6457 A T 18: 14,703,501 (GRCm39) noncoding transcript Het
Gnptab A G 10: 88,269,775 (GRCm39) N826S probably benign Het
Hdc T G 2: 126,436,053 (GRCm39) N606T probably benign Het
Maml3 C T 3: 51,601,931 (GRCm39) probably benign Het
Mkrn1 A T 6: 39,396,939 (GRCm39) probably benign Het
Myo18a T C 11: 77,723,238 (GRCm39) V720A probably damaging Het
Nkx3-1 G A 14: 69,428,447 (GRCm39) probably null Het
Npat T C 9: 53,473,507 (GRCm39) I433T probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or10ag53 A T 2: 87,082,991 (GRCm39) I237F probably damaging Het
Or1l4 A G 2: 37,092,057 (GRCm39) Y268C probably damaging Het
Or5m12 C T 2: 85,735,092 (GRCm39) C102Y possibly damaging Het
Pde6c T A 19: 38,121,599 (GRCm39) M69K probably benign Het
Pde7b T C 10: 20,423,823 (GRCm39) T18A probably benign Het
Plcz1 T C 6: 139,953,474 (GRCm39) K381R probably benign Het
Ppfia4 A C 1: 134,228,252 (GRCm39) F1095V probably damaging Het
Sfxn3 T C 19: 45,038,254 (GRCm39) F78S probably damaging Het
Sim1 A T 10: 50,857,420 (GRCm39) Y390F probably benign Het
Slc25a31 A G 3: 40,675,975 (GRCm39) I174V probably benign Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slco1b2 T G 6: 141,602,469 (GRCm39) probably benign Het
Smarca5 C A 8: 81,431,326 (GRCm39) D964Y possibly damaging Het
Sptbn2 T A 19: 4,779,458 (GRCm39) S338R possibly damaging Het
Srcap T C 7: 127,137,719 (GRCm39) V1023A possibly damaging Het
Syt16 A G 12: 74,176,269 (GRCm39) E46G probably damaging Het
Tas2r114 A T 6: 131,666,758 (GRCm39) I90K probably damaging Het
Tlx1 G T 19: 45,139,418 (GRCm39) D22Y probably damaging Het
Vamp8 G A 6: 72,362,522 (GRCm39) L93F possibly damaging Het
Vill T C 9: 118,892,409 (GRCm39) S347P possibly damaging Het
Zfp974 A G 7: 27,610,244 (GRCm39) Y494H 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
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'- GAACCCACAGGCCTGTAAAG -3'
(R):5'- AAGCAGCGCTGATTTCTTTCTC -3'

Sequencing Primer
(F):5'- TCCGTAATGAGATCTGACGC -3'
(R):5'- GATTTCTTTCTCATCCGTCTGGG -3'
Posted On 2016-03-17