Incidental Mutation 'R8459:Itga3'
ID 655190
Institutional Source Beutler Lab
Gene Symbol Itga3
Ensembl Gene ENSMUSG00000001507
Gene Name integrin alpha 3
Synonyms VLA-3 alpha 3, alpha3-integrin
MMRRC Submission 067836-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94935300-94967627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94959633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 80 (V80A)
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: V80A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: V80A

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: V49A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: V49A

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: V80A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: V80A

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 damaging
Transcript: ENSMUST00000145671
AA Change: V21A

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115970
Gene: ENSMUSG00000001507
AA Change: V21A

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 CTTGTTGT CTTGT 1: 173,289,536 (GRCm39) probably benign Het
Ank1 T C 8: 23,605,528 (GRCm39) V1132A probably damaging Het
Bpifb9a T G 2: 154,102,153 (GRCm39) S83R probably damaging Het
Cacnb3 C T 15: 98,537,393 (GRCm39) R24C probably damaging Het
Car8 C T 4: 8,189,302 (GRCm39) V171I probably benign Het
Cd200l1 T A 16: 45,238,271 (GRCm39) H294L probably benign Het
Cdk17 G C 10: 93,068,289 (GRCm39) V349L probably damaging Het
Celsr3 A G 9: 108,706,829 (GRCm39) E1104G probably damaging Het
Chml T C 1: 175,515,597 (GRCm39) D108G probably benign Het
Cluap1 T C 16: 3,755,453 (GRCm39) M356T probably damaging Het
Cmtm1 A G 8: 105,036,143 (GRCm39) V162A possibly damaging Het
Cryge T C 1: 65,087,841 (GRCm39) D156G possibly damaging Het
Disc1 A C 8: 125,891,894 (GRCm39) D649A possibly damaging Het
Dnah8 T C 17: 30,944,221 (GRCm39) probably null Het
Dpp7 C A 2: 25,242,550 (GRCm39) V468F probably damaging Het
Ecpas A G 4: 58,821,379 (GRCm39) V1207A probably damaging Het
Ep400 A G 5: 110,856,757 (GRCm39) F1163S unknown Het
Fbrs C T 7: 127,082,329 (GRCm39) R327W probably damaging Het
Fsip2 T A 2: 82,810,022 (GRCm39) Y2114N possibly damaging Het
Gnas A T 2: 174,126,732 (GRCm39) H89L probably benign Het
Gstt1 G A 10: 75,629,943 (GRCm39) R107W probably damaging Het
Hal A G 10: 93,352,177 (GRCm39) D656G probably benign Het
Htra3 G A 5: 35,828,569 (GRCm39) probably benign Het
Ighv1-64 G A 12: 115,471,256 (GRCm39) A87V probably benign Het
Lrrc58 A G 16: 37,698,872 (GRCm39) N280D probably benign Het
Macf1 T C 4: 123,374,107 (GRCm39) E1501G possibly damaging Het
Madd A G 2: 90,992,871 (GRCm39) I1016T probably benign Het
Mbnl1 T G 3: 60,529,628 (GRCm39) S260R probably damaging Het
Or5h17 A T 16: 58,820,348 (GRCm39) Q100L probably damaging Het
Phip G T 9: 82,758,106 (GRCm39) A1529D probably benign Het
Pramel58 A G 5: 94,830,742 (GRCm39) D80G probably damaging Het
Prorsd1 T C 11: 29,463,286 (GRCm39) T159A probably damaging Het
Sh3tc1 C A 5: 35,878,933 (GRCm39) R67L probably benign Het
Skint5 A T 4: 113,703,481 (GRCm39) L518* probably null Het
Slc26a11 T A 11: 119,259,643 (GRCm39) I280N possibly damaging Het
Spata16 A G 3: 26,721,676 (GRCm39) T66A probably benign Het
Syne1 G A 10: 5,374,277 (GRCm39) R177* probably null Het
Vmn1r16 A C 6: 57,300,347 (GRCm39) C92G probably benign Het
Vmn1r50 A G 6: 90,084,235 (GRCm39) 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
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
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'- TTCCTCTTCCCAGACGGATG -3'
(R):5'- AGATCCTTACGGCGTGTGAG -3'

Sequencing Primer
(F):5'- GTAGCCCATAGTAGATCTAGCCTTG -3'
(R):5'- CTTACGGCGTGTGAGCTTCC -3'
Posted On 2020-10-20