Incidental Mutation 'IGL02623:Adgrd1'
ID 300951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgrd1
Ensembl Gene ENSMUSG00000044017
Gene Name adhesion G protein-coupled receptor D1
Synonyms Gpr133, E230012M21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02623
Quality Score
Status
Chromosome 5
Chromosomal Location 129173814-129281663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129209809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 279 (N279Y)
Ref Sequence ENSEMBL: ENSMUSP00000121217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056617] [ENSMUST00000156437]
AlphaFold Q80T32
Predicted Effect probably damaging
Transcript: ENSMUST00000056617
AA Change: N311Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: N311Y

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 noncoding transcript
Transcript: ENSMUST00000140155
Predicted Effect probably damaging
Transcript: ENSMUST00000156437
AA Change: N279Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: N279Y

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,853,032 (GRCm39) I35F probably benign Het
Acad10 A G 5: 121,767,993 (GRCm39) V819A possibly damaging Het
Aplp2 C A 9: 31,089,379 (GRCm39) probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,360 (GRCm39) D193G probably damaging Het
Cacng1 A G 11: 107,595,145 (GRCm39) F144S probably damaging Het
Cfap91 T A 16: 38,154,140 (GRCm39) D135V possibly damaging Het
Dnm3 T A 1: 162,183,001 (GRCm39) T105S probably damaging Het
Efcab6 T A 15: 83,763,649 (GRCm39) I1228F probably damaging Het
Erc2 A G 14: 27,498,937 (GRCm39) D271G probably damaging Het
Fat3 T C 9: 15,908,433 (GRCm39) Y2523C probably damaging Het
Fhl4 A G 10: 84,934,035 (GRCm39) F249L probably damaging Het
Gm17782 T C 17: 36,472,958 (GRCm39) probably benign Het
Gm4787 A G 12: 81,425,502 (GRCm39) Y219H probably damaging Het
Hk1 A G 10: 62,128,138 (GRCm39) L328P probably benign Het
Hspa12a T A 19: 58,797,983 (GRCm39) Y245F probably benign Het
Kbtbd12 T C 6: 88,595,371 (GRCm39) Y153C probably damaging Het
Kcnd2 A T 6: 21,726,194 (GRCm39) R562S probably benign Het
Lct T C 1: 128,235,988 (GRCm39) S340G probably benign Het
Mettl25 C A 10: 105,662,185 (GRCm39) G262W probably damaging Het
Mindy3 G A 2: 12,369,294 (GRCm39) Q142* probably null Het
Optn T C 2: 5,039,833 (GRCm39) E318G probably damaging Het
Or8j3 A T 2: 86,028,363 (GRCm39) H244Q probably damaging Het
Pan2 T C 10: 128,148,768 (GRCm39) S443P probably benign Het
Parva A G 7: 112,175,646 (GRCm39) D259G probably damaging Het
Pkhd1l1 T A 15: 44,448,269 (GRCm39) L3816Q probably damaging Het
Polq T C 16: 36,880,737 (GRCm39) F967S probably benign Het
Prdm16 T C 4: 154,425,334 (GRCm39) N817S probably damaging Het
Ptprt C A 2: 161,449,372 (GRCm39) probably benign Het
Rbbp8nl T A 2: 179,923,236 (GRCm39) S154C probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slit1 T C 19: 41,640,122 (GRCm39) I169V probably damaging Het
Smyd4 G T 11: 75,280,890 (GRCm39) probably benign Het
Tial1 A G 7: 128,045,607 (GRCm39) Y326H probably benign Het
Tmem198b A G 10: 128,638,320 (GRCm39) L81P probably damaging Het
Tmem94 T A 11: 115,687,227 (GRCm39) C1115* probably null Het
Tns3 A G 11: 8,387,141 (GRCm39) S1349P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zfp106 A T 2: 120,376,395 (GRCm39) probably null Het
Zfp119b T C 17: 56,246,793 (GRCm39) E99G probably damaging Het
Zfp462 T A 4: 55,012,986 (GRCm39) C503S probably damaging Het
Zfyve19 G A 2: 119,042,496 (GRCm39) probably null Het
Zxdc G T 6: 90,359,352 (GRCm39) K661N probably damaging Het
Other mutations in Adgrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Adgrd1 APN 5 129,216,656 (GRCm39) missense probably benign 0.06
IGL01384:Adgrd1 APN 5 129,174,273 (GRCm39) missense possibly damaging 0.47
IGL01636:Adgrd1 APN 5 129,219,516 (GRCm39) splice site probably benign
IGL01916:Adgrd1 APN 5 129,209,902 (GRCm39) missense probably benign 0.12
IGL01923:Adgrd1 APN 5 129,255,143 (GRCm39) missense possibly damaging 0.58
IGL02019:Adgrd1 APN 5 129,192,202 (GRCm39) missense probably benign 0.00
IGL02142:Adgrd1 APN 5 129,208,648 (GRCm39) missense probably benign
IGL02149:Adgrd1 APN 5 129,256,325 (GRCm39) missense probably damaging 1.00
IGL02190:Adgrd1 APN 5 129,217,788 (GRCm39) splice site probably benign
IGL02696:Adgrd1 APN 5 129,217,918 (GRCm39) splice site probably benign
IGL02850:Adgrd1 APN 5 129,192,119 (GRCm39) missense probably damaging 1.00
IGL02976:Adgrd1 APN 5 129,208,661 (GRCm39) missense probably benign 0.00
IGL02988:Adgrd1 UTSW 5 129,221,074 (GRCm39) missense probably benign 0.00
PIT4458001:Adgrd1 UTSW 5 129,208,641 (GRCm39) missense probably damaging 1.00
R0081:Adgrd1 UTSW 5 129,255,146 (GRCm39) missense probably damaging 0.99
R0266:Adgrd1 UTSW 5 129,216,658 (GRCm39) missense probably benign 0.00
R0267:Adgrd1 UTSW 5 129,216,658 (GRCm39) missense probably benign 0.00
R0464:Adgrd1 UTSW 5 129,239,714 (GRCm39) missense probably damaging 1.00
R0625:Adgrd1 UTSW 5 129,248,995 (GRCm39) critical splice donor site probably null
R1288:Adgrd1 UTSW 5 129,206,071 (GRCm39) missense probably damaging 0.97
R1460:Adgrd1 UTSW 5 129,199,627 (GRCm39) missense possibly damaging 0.63
R1635:Adgrd1 UTSW 5 129,205,971 (GRCm39) missense probably damaging 1.00
R1658:Adgrd1 UTSW 5 129,255,164 (GRCm39) missense probably benign 0.02
R1709:Adgrd1 UTSW 5 129,256,292 (GRCm39) missense possibly damaging 0.95
R1897:Adgrd1 UTSW 5 129,206,065 (GRCm39) missense probably benign 0.01
R1976:Adgrd1 UTSW 5 129,217,861 (GRCm39) missense probably benign 0.06
R2049:Adgrd1 UTSW 5 129,192,159 (GRCm39) missense probably benign 0.01
R2259:Adgrd1 UTSW 5 129,189,375 (GRCm39) missense possibly damaging 0.92
R2295:Adgrd1 UTSW 5 129,199,570 (GRCm39) missense probably benign 0.13
R3076:Adgrd1 UTSW 5 129,206,169 (GRCm39) missense probably benign 0.20
R3077:Adgrd1 UTSW 5 129,206,169 (GRCm39) missense probably benign 0.20
R3078:Adgrd1 UTSW 5 129,206,169 (GRCm39) missense probably benign 0.20
R4581:Adgrd1 UTSW 5 129,279,595 (GRCm39) missense possibly damaging 0.68
R5024:Adgrd1 UTSW 5 129,248,959 (GRCm39) missense probably damaging 1.00
R5076:Adgrd1 UTSW 5 129,221,053 (GRCm39) nonsense probably null
R5227:Adgrd1 UTSW 5 129,199,647 (GRCm39) missense probably benign 0.00
R5453:Adgrd1 UTSW 5 129,256,647 (GRCm39) missense probably damaging 0.99
R6349:Adgrd1 UTSW 5 129,219,603 (GRCm39) splice site probably null
R6953:Adgrd1 UTSW 5 129,192,142 (GRCm39) nonsense probably null
R7300:Adgrd1 UTSW 5 129,174,411 (GRCm39) critical splice donor site probably null
R7583:Adgrd1 UTSW 5 129,256,652 (GRCm39) missense probably benign 0.42
R7622:Adgrd1 UTSW 5 129,216,688 (GRCm39) missense probably benign 0.27
R8205:Adgrd1 UTSW 5 129,192,175 (GRCm39) missense possibly damaging 0.94
R8716:Adgrd1 UTSW 5 129,265,435 (GRCm39) missense possibly damaging 0.94
R8780:Adgrd1 UTSW 5 129,174,138 (GRCm39) start gained probably benign
R8850:Adgrd1 UTSW 5 129,219,574 (GRCm39) missense probably benign 0.00
R9528:Adgrd1 UTSW 5 129,256,740 (GRCm39) missense probably benign 0.44
R9569:Adgrd1 UTSW 5 129,256,701 (GRCm39) missense possibly damaging 0.90
R9626:Adgrd1 UTSW 5 129,275,721 (GRCm39) missense probably damaging 1.00
X0067:Adgrd1 UTSW 5 129,265,416 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16