Incidental Mutation 'IGL01084:Adgrd1'
ID 51066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgrd1
Ensembl Gene ENSMUSG00000044017
Gene Name adhesion G protein-coupled receptor D1
Synonyms E230012M21Rik, Gpr133
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01084
Quality Score
Status
Chromosome 5
Chromosomal Location 129096750-129204599 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129139592 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 341 (N341I)
Ref Sequence ENSEMBL: ENSMUSP00000121217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056617] [ENSMUST00000156437]
AlphaFold Q80T32
Predicted Effect probably benign
Transcript: ENSMUST00000056617
AA Change: N373I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: N373I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Laminin_G_3 119 273 2.9e-18 PFAM
Pfam:Pentaxin 171 288 2.2e-7 PFAM
GPS 535 585 1.57e-14 SMART
Pfam:Dicty_CAR 590 856 1.2e-8 PFAM
Pfam:7tm_2 592 831 8e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156437
AA Change: N341I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: N341I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,073 probably benign Het
Aagab C A 9: 63,639,619 Q284K probably damaging Het
Arhgap40 T C 2: 158,543,218 F457S probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Catsper1 G A 19: 5,337,772 V360M probably damaging Het
Cdc42bpa T A 1: 180,142,274 probably benign Het
Cep250 C T 2: 155,998,393 H2424Y probably benign Het
Cln3 T C 7: 126,575,254 E304G probably damaging Het
Eml2 T A 7: 19,190,738 C177* probably null Het
Epha5 G A 5: 84,071,087 R917* probably null Het
Gabra2 A G 5: 71,006,233 F244L probably damaging Het
Gars C A 6: 55,055,827 D261E probably benign Het
Keg1 A G 19: 12,714,612 K98E probably damaging Het
Kif13a A G 13: 46,750,634 probably benign Het
Matn1 A G 4: 130,951,934 K300E probably benign Het
Mesp1 A G 7: 79,793,083 S149P probably benign Het
Mmp10 T C 9: 7,505,650 V305A possibly damaging Het
Muc5b T C 7: 141,843,449 probably benign Het
Myof T C 19: 37,936,436 T1181A probably damaging Het
Olfr1161 T C 2: 88,025,003 S94P probably benign Het
Olfr1504 G T 19: 13,887,502 T236N probably damaging Het
Olfr398 A T 11: 73,984,527 L27Q probably damaging Het
Osbpl11 T C 16: 33,226,851 probably benign Het
Prune2 T C 19: 17,118,209 V359A probably benign Het
Ptch1 T A 13: 63,543,637 E267D probably damaging Het
Rbl2 A G 8: 91,122,313 E1049G probably damaging Het
Ruvbl2 A T 7: 45,422,523 probably null Het
Sec23b A G 2: 144,564,589 I101M possibly damaging Het
Srms A C 2: 181,206,384 probably null Het
Svep1 T A 4: 58,111,419 T1067S possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem127 T C 2: 127,257,086 V180A probably damaging Het
Trpm7 A G 2: 126,846,072 probably null Het
Trpv3 G A 11: 73,294,000 probably null Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Vmn2r80 A G 10: 79,194,599 Y753C probably damaging Het
Vps13d A G 4: 145,154,955 L1350S probably benign Het
Zfp287 G T 11: 62,713,890 Y730* probably null Het
Zfp583 A G 7: 6,317,185 F276S probably damaging Het
Zfp638 T C 6: 83,944,798 Y636H probably benign Het
Other mutations in Adgrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Adgrd1 APN 5 129097209 missense possibly damaging 0.47
IGL01636:Adgrd1 APN 5 129142452 splice site probably benign
IGL01916:Adgrd1 APN 5 129132838 missense probably benign 0.12
IGL01923:Adgrd1 APN 5 129178079 missense possibly damaging 0.58
IGL02019:Adgrd1 APN 5 129115138 missense probably benign 0.00
IGL02142:Adgrd1 APN 5 129131584 missense probably benign
IGL02149:Adgrd1 APN 5 129179261 missense probably damaging 1.00
IGL02190:Adgrd1 APN 5 129140724 splice site probably benign
IGL02623:Adgrd1 APN 5 129132745 missense probably damaging 0.99
IGL02696:Adgrd1 APN 5 129140854 splice site probably benign
IGL02850:Adgrd1 APN 5 129115055 missense probably damaging 1.00
IGL02976:Adgrd1 APN 5 129131597 missense probably benign 0.00
IGL02988:Adgrd1 UTSW 5 129144010 missense probably benign 0.00
PIT4458001:Adgrd1 UTSW 5 129131577 missense probably damaging 1.00
R0081:Adgrd1 UTSW 5 129178082 missense probably damaging 0.99
R0266:Adgrd1 UTSW 5 129139594 missense probably benign 0.00
R0267:Adgrd1 UTSW 5 129139594 missense probably benign 0.00
R0464:Adgrd1 UTSW 5 129162650 missense probably damaging 1.00
R0625:Adgrd1 UTSW 5 129171931 critical splice donor site probably null
R1288:Adgrd1 UTSW 5 129129007 missense probably damaging 0.97
R1460:Adgrd1 UTSW 5 129122563 missense possibly damaging 0.63
R1635:Adgrd1 UTSW 5 129128907 missense probably damaging 1.00
R1658:Adgrd1 UTSW 5 129178100 missense probably benign 0.02
R1709:Adgrd1 UTSW 5 129179228 missense possibly damaging 0.95
R1897:Adgrd1 UTSW 5 129129001 missense probably benign 0.01
R1976:Adgrd1 UTSW 5 129140797 missense probably benign 0.06
R2049:Adgrd1 UTSW 5 129115095 missense probably benign 0.01
R2259:Adgrd1 UTSW 5 129112311 missense possibly damaging 0.92
R2295:Adgrd1 UTSW 5 129122506 missense probably benign 0.13
R3076:Adgrd1 UTSW 5 129129105 missense probably benign 0.20
R3077:Adgrd1 UTSW 5 129129105 missense probably benign 0.20
R3078:Adgrd1 UTSW 5 129129105 missense probably benign 0.20
R4581:Adgrd1 UTSW 5 129202531 missense possibly damaging 0.68
R5024:Adgrd1 UTSW 5 129171895 missense probably damaging 1.00
R5076:Adgrd1 UTSW 5 129143989 nonsense probably null
R5227:Adgrd1 UTSW 5 129122583 missense probably benign 0.00
R5453:Adgrd1 UTSW 5 129179583 missense probably damaging 0.99
R6349:Adgrd1 UTSW 5 129142539 splice site probably null
R6953:Adgrd1 UTSW 5 129115078 nonsense probably null
R7300:Adgrd1 UTSW 5 129097347 critical splice donor site probably null
R7583:Adgrd1 UTSW 5 129179588 missense probably benign 0.42
R7622:Adgrd1 UTSW 5 129139624 missense probably benign 0.27
R8205:Adgrd1 UTSW 5 129115111 missense possibly damaging 0.94
R8716:Adgrd1 UTSW 5 129188371 missense possibly damaging 0.94
R8780:Adgrd1 UTSW 5 129097074 start gained probably benign
R8850:Adgrd1 UTSW 5 129142510 missense probably benign 0.00
R9528:Adgrd1 UTSW 5 129179676 missense probably benign 0.44
R9569:Adgrd1 UTSW 5 129179637 missense possibly damaging 0.90
R9626:Adgrd1 UTSW 5 129198657 missense probably damaging 1.00
X0067:Adgrd1 UTSW 5 129188352 missense probably benign 0.06
Posted On 2013-06-21