Incidental Mutation 'R2851:Itgad'
ID 252209
Institutional Source Beutler Lab
Gene Symbol Itgad
Ensembl Gene ENSMUSG00000070369
Gene Name integrin, alpha D
Synonyms Cd11d
MMRRC Submission 040444-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2851 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127773105-127822988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127803732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 42 (V42E)
Ref Sequence ENSEMBL: ENSMUSP00000135104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033049] [ENSMUST00000033051] [ENSMUST00000106237] [ENSMUST00000176249] [ENSMUST00000177111] [ENSMUST00000177383]
AlphaFold Q3V0T4
Predicted Effect probably benign
Transcript: ENSMUST00000033049
SMART Domains Protein: ENSMUSP00000033049
Gene: ENSMUSG00000030785

DomainStartEndE-ValueType
Pfam:COX6A 10 90 4.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033051
AA Change: V1137E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: V1137E

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 benign
Transcript: ENSMUST00000106237
AA Change: V1103E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: V1103E

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 benign
Transcript: ENSMUST00000176249
AA Change: V35E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000135309
Gene: ENSMUSG00000070369
AA Change: V35E

DomainStartEndE-ValueType
PDB:3K72|C 1 37 5e-11 PDB
transmembrane domain 40 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177111
AA Change: V1101E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: V1101E

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
Predicted Effect probably benign
Transcript: ENSMUST00000177383
AA Change: V42E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000135104
Gene: ENSMUSG00000070369
AA Change: V42E

DomainStartEndE-ValueType
PDB:3K72|C 2 34 1e-9 PDB
transmembrane domain 47 69 N/A INTRINSIC
Pfam:Integrin_alpha 70 84 2.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205646
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (61/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2cl T C 9: 110,723,203 (GRCm39) S636P probably damaging Het
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Bank1 A T 3: 135,948,701 (GRCm39) S159T possibly damaging Het
Catsperd A G 17: 56,967,169 (GRCm39) probably null Het
Ccdc85a A G 11: 28,342,942 (GRCm39) probably benign Het
Ceacam11 T C 7: 17,712,451 (GRCm39) I300T probably benign Het
Cmtm5 A G 14: 55,175,512 (GRCm39) probably benign Het
Cnn3 C T 3: 121,243,702 (GRCm39) probably benign Het
Col12a1 A T 9: 79,585,614 (GRCm39) N1254K probably damaging Het
Crispld2 T A 8: 120,740,828 (GRCm39) L107Q probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cyp1b1 T C 17: 80,017,649 (GRCm39) N502S probably benign Het
Cyp51 A T 5: 4,149,183 (GRCm39) D231E probably damaging Het
Depdc5 A G 5: 33,081,515 (GRCm39) E559G probably damaging Het
Dnai4 A G 4: 102,953,858 (GRCm39) S114P probably benign Het
Dscam T C 16: 96,423,915 (GRCm39) T1677A possibly damaging Het
Dzip1 A C 14: 119,159,857 (GRCm39) M117R possibly damaging Het
Ednrb G T 14: 104,059,110 (GRCm39) S305R probably benign Het
Emilin1 A G 5: 31,074,509 (GRCm39) D250G probably benign Het
Frrs1 A G 3: 116,678,778 (GRCm39) N200S probably benign Het
Fstl5 T A 3: 76,337,045 (GRCm39) probably benign Het
Gmcl1 A C 6: 86,703,159 (GRCm39) S92A probably damaging Het
Gpr62 T C 9: 106,341,911 (GRCm39) E339G probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Il19 A G 1: 130,863,694 (GRCm39) V99A possibly damaging Het
Itga9 G A 9: 118,465,604 (GRCm39) E153K probably damaging Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Map4k4 T A 1: 40,039,915 (GRCm39) probably benign Het
Mdc1 T A 17: 36,159,902 (GRCm39) V670D probably benign Het
Mfsd4b2 T A 10: 39,798,119 (GRCm39) S79C probably benign Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mthfsd G A 8: 121,832,512 (GRCm39) T60I probably benign Het
Mycbp2 A T 14: 103,381,769 (GRCm39) F3724I probably damaging Het
Nceh1 A G 3: 27,295,504 (GRCm39) Y255C probably damaging Het
Ncoa2 C T 1: 13,257,113 (GRCm39) V129I probably damaging Het
Ndufb5 T C 3: 32,800,600 (GRCm39) F58L probably damaging Het
Npsr1 A G 9: 24,221,301 (GRCm39) probably benign Het
Obscn C A 11: 58,920,844 (GRCm39) probably null Het
Pdzd7 C G 19: 45,016,113 (GRCm39) V1003L probably benign Het
Pias3 A G 3: 96,610,853 (GRCm39) E377G possibly damaging Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Pkhd1 T C 1: 20,128,526 (GRCm39) Q4059R probably benign Het
Ppa2 A T 3: 133,026,764 (GRCm39) probably null Het
Proser1 G A 3: 53,387,966 (GRCm39) A885T probably benign Het
Robo2 A G 16: 73,758,776 (GRCm39) I665T probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Secisbp2 G A 13: 51,808,671 (GRCm39) probably null Het
Setbp1 T A 18: 78,967,211 (GRCm39) Q171L probably benign Het
Spata1 A G 3: 146,193,295 (GRCm39) L96P possibly damaging Het
Srprb G A 9: 103,076,038 (GRCm39) Q800* probably null Het
Stk11ip A G 1: 75,505,911 (GRCm39) probably benign Het
Tbl3 T C 17: 24,921,557 (GRCm39) T445A probably damaging Het
Tdrd12 G A 7: 35,184,798 (GRCm39) T705M probably damaging Het
Tek A G 4: 94,708,461 (GRCm39) T340A probably benign Het
Timm22 G A 11: 76,304,925 (GRCm39) A188T probably damaging Het
Tmeff1 T A 4: 48,604,692 (GRCm39) probably null Het
Tmprss12 C A 15: 100,180,296 (GRCm39) T112K possibly damaging Het
U2surp A G 9: 95,382,735 (GRCm39) probably null Het
Vmn2r84 T A 10: 130,230,036 (GRCm39) E25D probably benign Het
Wdr62 A T 7: 29,960,862 (GRCm39) N22K possibly damaging Het
Zfp653 A T 9: 21,968,862 (GRCm39) D426E probably benign Het
Zfyve28 G A 5: 34,354,006 (GRCm39) P834L probably damaging Het
Zkscan16 A G 4: 58,957,364 (GRCm39) T549A 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
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
R7324:Itgad UTSW 7 127,788,979 (GRCm39) missense probably damaging 1.00
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'- ATGAGTGCGCATATGTACATGTG -3'
(R):5'- ACGATCTGTGTTCTTACTGTCG -3'

Sequencing Primer
(F):5'- TGCGCACATGCATGCAC -3'
(R):5'- CGTATGGTGTGCACGACAG -3'
Posted On 2014-12-04