Incidental Mutation 'R7324:Itgad'
ID 568744
Institutional Source Beutler Lab
Gene Symbol Itgad
Ensembl Gene ENSMUSG00000070369
Gene Name integrin, alpha D
Synonyms Cd11d
MMRRC Submission 045418-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R7324 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127773105-127822988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127788979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 510 (D510V)
Ref Sequence ENSEMBL: ENSMUSP00000033051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033051] [ENSMUST00000106237] [ENSMUST00000177111]
AlphaFold Q3V0T4
Predicted Effect probably damaging
Transcript: ENSMUST00000033051
AA Change: D510V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: D510V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Int_alpha 38 88 1.35e1 SMART
VWA 155 376 1.24e-36 SMART
Blast:VWA 405 436 1e-9 BLAST
Int_alpha 443 492 3.67e-3 SMART
Int_alpha 496 553 1.03e-6 SMART
Int_alpha 559 615 1.73e-13 SMART
Int_alpha 622 676 1.69e-2 SMART
transmembrane domain 1142 1164 N/A INTRINSIC
Pfam:Integrin_alpha 1165 1179 1.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106237
AA Change: D476V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: D476V

DomainStartEndE-ValueType
Int_alpha 40 90 1.35e1 SMART
VWA 157 342 1.31e-44 SMART
Blast:VWA 371 402 9e-10 BLAST
Int_alpha 409 458 3.67e-3 SMART
Int_alpha 462 519 1.03e-6 SMART
Int_alpha 525 581 1.73e-13 SMART
Int_alpha 588 642 1.69e-2 SMART
transmembrane domain 1108 1130 N/A INTRINSIC
Pfam:Integrin_alpha 1131 1145 4.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177111
AA Change: D474V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: D474V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Int_alpha 38 88 1.35e1 SMART
VWA 155 340 1.31e-44 SMART
Blast:VWA 369 400 9e-10 BLAST
Int_alpha 407 456 3.67e-3 SMART
Int_alpha 460 517 1.03e-6 SMART
Int_alpha 523 579 1.73e-13 SMART
Int_alpha 586 640 1.69e-2 SMART
transmembrane domain 1106 1128 N/A INTRINSIC
Pfam:Integrin_alpha 1129 1143 5.4e-7 PFAM
Meta Mutation Damage Score 0.2737 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice exhibit a reduced staphylococcal enterotoxin-induced T cell response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T C 17: 84,983,667 (GRCm39) D124G possibly damaging Het
Ackr3 C G 1: 90,141,923 (GRCm39) N127K probably damaging Het
AL732309.1 A C 2: 25,136,151 (GRCm39) M21R possibly damaging Het
Ankrd52 C A 10: 128,222,032 (GRCm39) T552K possibly damaging Het
Arhgap28 T C 17: 68,202,879 (GRCm39) probably null Het
Arid5b A T 10: 67,964,752 (GRCm39) N306K probably benign Het
C1qtnf3 A C 15: 10,952,707 (GRCm39) K56N probably benign Het
C2 C T 17: 35,100,664 (GRCm39) G52D probably benign Het
Casz1 C T 4: 149,031,490 (GRCm39) T1247M probably damaging Het
Cc2d2b A G 19: 40,797,552 (GRCm39) D778G unknown Het
Cdh5 A G 8: 104,869,425 (GRCm39) D717G probably damaging Het
Clca3a2 G A 3: 144,514,372 (GRCm39) A445V probably damaging Het
Clca3b T A 3: 144,547,181 (GRCm39) M319L possibly damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Csnk1g3 A G 18: 54,052,090 (GRCm39) T220A probably damaging Het
Cyp2d10 T G 15: 82,287,961 (GRCm39) T381P probably damaging Het
Ddb2 G A 2: 91,067,229 (GRCm39) probably benign Het
Ddx24 C A 12: 103,382,518 (GRCm39) L688F probably damaging Het
Dennd4c T C 4: 86,747,975 (GRCm39) L1615P unknown Het
Dnah8 T A 17: 31,003,099 (GRCm39) D3599E probably benign Het
Dst T C 1: 34,045,305 (GRCm39) S13P possibly damaging Het
Efcab12 T C 6: 115,800,555 (GRCm39) D156G probably benign Het
Enpp2 A G 15: 54,741,170 (GRCm39) probably null Het
Ephx2 A G 14: 66,322,803 (GRCm39) V490A probably damaging Het
Etnppl A G 3: 130,423,224 (GRCm39) N308D probably damaging Het
F5 TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA 1: 164,021,150 (GRCm39) probably benign Het
Fam162b A T 10: 51,466,282 (GRCm39) probably null Het
Fancl A G 11: 26,353,362 (GRCm39) E86G probably damaging Het
Flii G A 11: 60,609,866 (GRCm39) T615I probably benign Het
Fndc7 G T 3: 108,779,537 (GRCm39) Q336K probably benign Het
Gm26661 T C 14: 7,791,911 (GRCm38) C109R unknown Het
H2-DMb1 T C 17: 34,378,436 (GRCm39) probably null Het
H2-T10 C T 17: 36,430,189 (GRCm39) G251R probably damaging Het
Harbi1 T C 2: 91,551,044 (GRCm39) I339T probably benign Het
Hsp90aa1 A G 12: 110,661,659 (GRCm39) M119T unknown Het
Ighe T A 12: 113,235,954 (GRCm39) Y124F Het
Ighv7-1 T C 12: 113,860,149 (GRCm39) Y81C probably damaging Het
Ilkap A T 1: 91,313,115 (GRCm39) probably null Het
Inpp5a A G 7: 139,105,586 (GRCm39) D179G probably damaging Het
Kcnn2 A T 18: 45,693,138 (GRCm39) H238L probably benign Het
Kctd17 T A 15: 78,319,842 (GRCm39) C189S probably damaging Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Llgl2 A G 11: 115,741,556 (GRCm39) E562G possibly damaging Het
Macf1 T C 4: 123,268,218 (GRCm39) T6734A probably benign Het
Maz G A 7: 126,623,765 (GRCm39) T377M probably damaging Het
Mmrn1 G T 6: 60,921,917 (GRCm39) G125* probably null Het
Mvp A G 7: 126,592,781 (GRCm39) S377P probably benign Het
Nin C T 12: 70,090,508 (GRCm39) R969Q Het
Nktr C T 9: 121,556,427 (GRCm39) T35I probably damaging Het
Nktr T A 9: 121,577,357 (GRCm39) M475K possibly damaging Het
Nod2 T A 8: 89,379,694 (GRCm39) V65D probably damaging Het
Opa1 A T 16: 29,405,799 (GRCm39) E121D probably benign Het
Or10w3 C T 19: 13,704,270 (GRCm39) A215V probably benign Het
Or1r1 A G 11: 73,874,669 (GRCm39) V255A probably benign Het
Or2n1c T C 17: 38,519,607 (GRCm39) V157A probably benign Het
Or4a76 A T 2: 89,460,447 (GRCm39) I265N possibly damaging Het
Or5ac21 T C 16: 59,123,611 (GRCm39) F32L probably benign Het
Or5b123 A G 19: 13,596,942 (GRCm39) I96V probably benign Het
Or6c88 T A 10: 129,406,718 (GRCm39) S65T probably damaging Het
Or7e174 A T 9: 20,012,726 (GRCm39) I224F possibly damaging Het
Osbpl2 A G 2: 179,791,994 (GRCm39) T233A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Plekhh3 T A 11: 101,061,600 (GRCm39) D38V possibly damaging Het
Prtg C T 9: 72,798,122 (GRCm39) A696V probably damaging Het
Ptpn14 T G 1: 189,595,621 (GRCm39) V748G possibly damaging Het
Reg2 A T 6: 78,383,137 (GRCm39) D28V probably benign Het
Rhpn1 A T 15: 75,576,246 (GRCm39) I2F possibly damaging Het
Rundc3a A G 11: 102,290,799 (GRCm39) E294G possibly damaging Het
Scara3 T A 14: 66,168,865 (GRCm39) I251L probably benign Het
Slc23a2 G A 2: 131,931,043 (GRCm39) T152I probably damaging Het
Slc39a2 T G 14: 52,131,650 (GRCm39) S74A possibly damaging Het
Tmprss15 T C 16: 78,758,907 (GRCm39) Y937C probably damaging Het
Tpp2 T C 1: 44,017,938 (GRCm39) L779S probably damaging Het
Tssk2 T C 16: 17,717,227 (GRCm39) V210A possibly damaging Het
Ttn T A 2: 76,725,937 (GRCm39) T6100S unknown Het
Tufm G A 7: 126,088,759 (GRCm39) E317K possibly damaging Het
Vinac1 T C 2: 128,879,772 (GRCm39) D718G unknown Het
Wdfy4 A G 14: 32,769,271 (GRCm39) S2219P Het
Wtap T C 17: 13,199,833 (GRCm39) N50S possibly damaging Het
Other mutations in Itgad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Itgad APN 7 127,803,022 (GRCm39) missense probably damaging 0.99
IGL02036:Itgad APN 7 127,788,993 (GRCm39) missense possibly damaging 0.49
IGL02589:Itgad APN 7 127,780,883 (GRCm39) missense probably damaging 1.00
IGL02648:Itgad APN 7 127,782,546 (GRCm39) intron probably benign
IGL02735:Itgad APN 7 127,792,888 (GRCm39) missense probably damaging 1.00
IGL03088:Itgad APN 7 127,802,204 (GRCm39) missense probably benign 0.01
IGL03110:Itgad APN 7 127,785,157 (GRCm39) missense probably damaging 1.00
BB007:Itgad UTSW 7 127,782,280 (GRCm39) missense probably benign 0.01
BB017:Itgad UTSW 7 127,782,280 (GRCm39) missense probably benign 0.01
R0060:Itgad UTSW 7 127,802,158 (GRCm39) missense probably damaging 1.00
R0060:Itgad UTSW 7 127,802,158 (GRCm39) missense probably damaging 1.00
R0184:Itgad UTSW 7 127,788,403 (GRCm39) missense probably benign 0.02
R0211:Itgad UTSW 7 127,803,813 (GRCm39) missense probably damaging 1.00
R0211:Itgad UTSW 7 127,803,813 (GRCm39) missense probably damaging 1.00
R0282:Itgad UTSW 7 127,789,150 (GRCm39) splice site probably benign
R0326:Itgad UTSW 7 127,797,550 (GRCm39) missense probably benign 0.00
R0646:Itgad UTSW 7 127,773,176 (GRCm39) missense possibly damaging 0.89
R0947:Itgad UTSW 7 127,774,865 (GRCm39) missense probably benign 0.08
R1439:Itgad UTSW 7 127,782,178 (GRCm39) missense probably benign 0.44
R1454:Itgad UTSW 7 127,791,309 (GRCm39) missense probably benign 0.02
R1503:Itgad UTSW 7 127,797,293 (GRCm39) missense probably benign 0.00
R1531:Itgad UTSW 7 127,777,542 (GRCm39) missense probably benign 0.00
R1572:Itgad UTSW 7 127,802,406 (GRCm39) missense probably damaging 1.00
R1602:Itgad UTSW 7 127,790,111 (GRCm39) missense probably damaging 1.00
R1732:Itgad UTSW 7 127,804,279 (GRCm39) missense probably benign
R2278:Itgad UTSW 7 127,804,342 (GRCm39) missense possibly damaging 0.93
R2851:Itgad UTSW 7 127,803,732 (GRCm39) missense probably benign 0.01
R3029:Itgad UTSW 7 127,777,543 (GRCm39) missense possibly damaging 0.85
R3080:Itgad UTSW 7 127,784,959 (GRCm39) missense possibly damaging 0.48
R3150:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3176:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3177:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3276:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3277:Itgad UTSW 7 127,790,153 (GRCm39) missense possibly damaging 0.64
R3833:Itgad UTSW 7 127,785,405 (GRCm39) missense probably damaging 1.00
R4541:Itgad UTSW 7 127,797,287 (GRCm39) missense probably benign 0.13
R4649:Itgad UTSW 7 127,788,703 (GRCm39) missense probably benign 0.01
R4753:Itgad UTSW 7 127,822,875 (GRCm39) makesense probably null
R4852:Itgad UTSW 7 127,797,702 (GRCm39) missense probably damaging 1.00
R4931:Itgad UTSW 7 127,803,797 (GRCm39) missense probably damaging 1.00
R4970:Itgad UTSW 7 127,789,015 (GRCm39) missense possibly damaging 0.70
R5116:Itgad UTSW 7 127,803,065 (GRCm39) missense probably damaging 1.00
R5183:Itgad UTSW 7 127,797,395 (GRCm39) critical splice donor site probably null
R5233:Itgad UTSW 7 127,792,600 (GRCm39) splice site probably null
R5334:Itgad UTSW 7 127,788,458 (GRCm39) missense probably damaging 0.99
R5731:Itgad UTSW 7 127,797,726 (GRCm39) missense probably benign 0.19
R5760:Itgad UTSW 7 127,802,537 (GRCm39) missense probably benign 0.02
R5896:Itgad UTSW 7 127,773,188 (GRCm39) missense probably benign 0.34
R5955:Itgad UTSW 7 127,788,653 (GRCm39) missense probably benign 0.00
R6247:Itgad UTSW 7 127,784,959 (GRCm39) missense possibly damaging 0.48
R6659:Itgad UTSW 7 127,785,120 (GRCm39) missense probably damaging 1.00
R7027:Itgad UTSW 7 127,782,161 (GRCm39) missense probably damaging 1.00
R7104:Itgad UTSW 7 127,797,550 (GRCm39) missense probably benign 0.00
R7120:Itgad UTSW 7 127,773,146 (GRCm39) start codon destroyed probably null 0.02
R7272:Itgad UTSW 7 127,804,245 (GRCm39) missense probably damaging 1.00
R7303:Itgad UTSW 7 127,789,351 (GRCm39) missense probably benign
R7565:Itgad UTSW 7 127,782,187 (GRCm39) missense probably damaging 0.98
R7566:Itgad UTSW 7 127,791,279 (GRCm39) missense probably benign 0.40
R7930:Itgad UTSW 7 127,782,280 (GRCm39) missense probably benign 0.01
R8550:Itgad UTSW 7 127,803,064 (GRCm39) missense probably damaging 0.98
R8816:Itgad UTSW 7 127,797,542 (GRCm39) nonsense probably null
R8849:Itgad UTSW 7 127,789,157 (GRCm39) splice site probably benign
R8952:Itgad UTSW 7 127,789,324 (GRCm39) missense probably damaging 1.00
R9345:Itgad UTSW 7 127,788,479 (GRCm39) missense probably benign 0.02
R9354:Itgad UTSW 7 127,785,146 (GRCm39) missense probably damaging 1.00
R9526:Itgad UTSW 7 127,777,552 (GRCm39) missense probably benign 0.09
R9614:Itgad UTSW 7 127,803,022 (GRCm39) missense probably damaging 0.99
R9623:Itgad UTSW 7 127,803,723 (GRCm39) missense probably damaging 1.00
R9773:Itgad UTSW 7 127,789,222 (GRCm39) missense probably damaging 0.97
RF019:Itgad UTSW 7 127,791,380 (GRCm39) missense probably benign 0.08
Z1176:Itgad UTSW 7 127,789,259 (GRCm39) missense probably damaging 1.00
Z1177:Itgad UTSW 7 127,788,673 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATCTTTACCCAGGAATCCAGG -3'
(R):5'- AAGGCAGTGTCAGACCCAAC -3'

Sequencing Primer
(F):5'- TGGAGGCCCAAGTCTGAAGTC -3'
(R):5'- AACCTGGGCAGACCTCC -3'
Posted On 2019-09-13