Incidental Mutation 'IGL01636:Adgrd1'
ID 93020
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 # IGL01636
Quality Score
Status
Chromosome 5
Chromosomal Location 129096750-129204599 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 129142452 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056617] [ENSMUST00000156437]
AlphaFold Q80T32
Predicted Effect probably benign
Transcript: ENSMUST00000056617
SMART Domains Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017

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
SMART Domains Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,419,949 T633A possibly damaging Het
Bmp7 T C 2: 172,875,208 probably benign Het
Ccdc54 A G 16: 50,589,914 *330Q probably null Het
Chd5 A T 4: 152,384,653 K1812* probably null Het
Cnga3 T A 1: 37,260,793 I236N possibly damaging Het
Ddost T G 4: 138,309,396 D135E possibly damaging Het
Dicer1 T C 12: 104,722,241 D359G probably damaging Het
Dnah17 A C 11: 118,041,056 S3697A probably benign Het
Dnttip2 G A 3: 122,282,474 G685D possibly damaging Het
Dst T G 1: 34,215,569 S4552R probably damaging Het
Ebf2 G A 14: 67,239,478 E157K probably damaging Het
Ehbp1 C T 11: 22,089,584 V839M probably benign Het
Ehmt1 G T 2: 24,839,608 T639K probably damaging Het
Esyt2 T C 12: 116,365,930 probably null Het
Etv6 T C 6: 134,248,387 S194P probably benign Het
Fam184b T C 5: 45,584,295 H198R probably benign Het
Fam210b T C 2: 172,351,540 F91S probably damaging Het
Fam81a G A 9: 70,099,152 Q193* probably null Het
Fto A G 8: 91,409,341 D79G probably damaging Het
Haspin C T 11: 73,137,405 R286H possibly damaging Het
Hmcn1 C T 1: 150,580,233 C5312Y probably damaging Het
Ik T A 18: 36,751,201 D245E possibly damaging Het
Itga1 A G 13: 115,006,948 V349A possibly damaging Het
Kdm8 T C 7: 125,461,205 V400A probably damaging Het
Larp1b G T 3: 40,970,478 R177L probably benign Het
Lifr T G 15: 7,179,018 probably benign Het
Lrrn2 T C 1: 132,937,221 L8P possibly damaging Het
Marc2 T C 1: 184,832,641 K231E probably benign Het
Marcksl1 T A 4: 129,514,794 D55E probably benign Het
Med12 C A X: 101,275,189 S74R probably damaging Het
Olfr1089 G A 2: 86,733,601 Q4* probably null Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr781 A T 10: 129,332,883 M1L probably damaging Het
Olfr862 A G 9: 19,884,188 V39A probably benign Het
Orc3 A C 4: 34,595,096 L233R probably damaging Het
Pik3cd A G 4: 149,654,315 M715T possibly damaging Het
Prss43 T A 9: 110,827,437 L64Q possibly damaging Het
Pyroxd2 C A 19: 42,738,332 G209V probably benign Het
Rab3b A G 4: 108,940,719 D198G possibly damaging Het
Rrbp1 A T 2: 143,947,895 probably benign Het
Smg6 T C 11: 74,935,103 probably null Het
Ssrp1 T C 2: 85,041,099 probably benign Het
Strip2 C A 6: 29,931,193 T381K probably benign Het
Svep1 A T 4: 58,116,622 L876Q possibly damaging Het
Tle4 T C 19: 14,452,533 I625V probably damaging Het
Tnfrsf23 T C 7: 143,679,999 T81A probably damaging Het
Ttc41 A G 10: 86,776,678 K1272E probably benign Het
Usp3 A G 9: 66,562,552 probably null Het
Vmn1r121 C T 7: 21,098,357 V53M probably benign Het
Vmn1r65 A T 7: 6,008,721 S171R probably benign Het
Vmn2r4 A T 3: 64,406,236 D441E probably benign Het
Vps13d A T 4: 145,075,048 H2353Q probably damaging Het
Vwa8 T C 14: 79,198,354 S1835P possibly damaging Het
Other mutations in Adgrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Adgrd1 APN 5 129139592 missense probably benign 0.06
IGL01384:Adgrd1 APN 5 129097209 missense possibly damaging 0.47
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 2013-12-09