Incidental Mutation 'IGL02696:Adgrd1'
ID303957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgrd1
Ensembl Gene ENSMUSG00000044017
Gene Nameadhesion G protein-coupled receptor D1
SynonymsE230012M21Rik, Gpr133
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02696
Quality Score
Status
Chromosome5
Chromosomal Location129096750-129204599 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 129140854 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056617] [ENSMUST00000156437]
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,982,671 T43A probably benign Het
Asxl1 T A 2: 153,400,195 Y888* probably null Het
Atp8b5 T C 4: 43,369,634 V924A possibly damaging Het
AU040320 T C 4: 126,842,587 L821P probably damaging Het
Capn11 T C 17: 45,632,709 N596S probably damaging Het
Cnot1 C A 8: 95,745,017 V1219F probably benign Het
Cope T C 8: 70,310,493 probably null Het
Crim1 A G 17: 78,279,973 E169G probably damaging Het
Csmd3 A T 15: 47,669,669 F2395I probably benign Het
Ctso A C 3: 81,951,384 D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,129 P577S probably benign Het
D930048N14Rik T A 11: 51,653,994 probably benign Het
Dck T A 5: 88,772,807 S129T probably damaging Het
Dlc1 A G 8: 36,574,172 V1301A possibly damaging Het
Dusp16 G A 6: 134,718,435 R478C probably damaging Het
Ermap C T 4: 119,187,707 R49K possibly damaging Het
Flnc A G 6: 29,446,698 K969R probably damaging Het
Gjb2 A T 14: 57,100,312 F146L probably damaging Het
Hdc A T 2: 126,594,300 D550E probably damaging Het
Hs6st3 A T 14: 119,869,319 I380F probably damaging Het
Htr1d T C 4: 136,443,411 V317A probably benign Het
Kalrn A T 16: 34,220,114 M963K probably damaging Het
Kl T A 5: 150,980,985 S401T probably benign Het
Lair1 A G 7: 4,010,849 probably benign Het
Lrp5 C T 19: 3,602,253 V1206I probably benign Het
Matn4 A G 2: 164,396,838 F343S probably benign Het
Mrgpra4 G T 7: 47,981,503 R117S possibly damaging Het
Myh14 T C 7: 44,665,106 Y131C probably damaging Het
Nap1l4 A T 7: 143,524,161 N345K possibly damaging Het
Oas1c T C 5: 120,805,463 R204G probably benign Het
Olfr1061 T A 2: 86,413,615 T146S probably benign Het
Olfr677 A G 7: 105,056,362 T39A probably benign Het
Pakap T A 4: 57,854,663 D58E probably damaging Het
Pin1 G A 9: 20,663,235 G150E probably benign Het
R3hdm2 T C 10: 127,465,019 probably null Het
Rai1 C A 11: 60,193,956 H1843Q probably benign Het
Siae G T 9: 37,631,384 A194S probably damaging Het
Slc6a12 G T 6: 121,363,252 V485L probably benign Het
Stil T G 4: 115,041,495 S1107R probably damaging Het
Syt16 T C 12: 74,129,411 V18A possibly damaging Het
Trpm8 A G 1: 88,348,051 D457G probably damaging Het
Tshr A T 12: 91,493,329 T66S possibly damaging Het
Ttn T A 2: 76,707,295 Q34763L probably benign Het
Ubr2 T A 17: 46,963,765 M830L probably benign Het
Ulk1 A G 5: 110,793,052 F337S probably 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
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
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
X0067:Adgrd1 UTSW 5 129188352 missense probably benign 0.06
Posted On2015-04-16