Incidental Mutation 'PIT4458001:Adgrd1'
ID 555906
Institutional Source Beutler Lab
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 # PIT4458001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 129173814-129281663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129208641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 281 (G281D)
Ref Sequence ENSEMBL: ENSMUSP00000060307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056617] [ENSMUST00000156437]
AlphaFold Q80T32
Predicted Effect probably damaging
Transcript: ENSMUST00000056617
AA Change: G281D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: G281D

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 damaging
Transcript: ENSMUST00000156437
AA Change: G249D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: G249D

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 73.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,248,304 (GRCm39) V2684L probably benign Het
Adamts9 T A 6: 92,866,886 (GRCm39) I718F probably damaging Het
Adcyap1r1 A G 6: 55,455,067 (GRCm39) D110G probably benign Het
Afg1l A T 10: 42,330,366 (GRCm39) C100* probably null Het
Atp2a2 G A 5: 122,595,372 (GRCm39) Q993* probably null Het
Baz1a A G 12: 54,977,095 (GRCm39) M389T probably benign Het
Btnl4 T A 17: 34,693,242 (GRCm39) M58L probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cpeb1 A T 7: 80,998,180 (GRCm39) F533Y probably damaging Het
Ctnna1 T A 18: 35,308,179 (GRCm39) N166K possibly damaging Het
Ecsit T C 9: 21,987,580 (GRCm39) H153R probably damaging Het
Gbp8 T C 5: 105,162,955 (GRCm39) K480E probably benign Het
Glyat A T 19: 12,625,373 (GRCm39) T66S probably benign Het
Gm1110 T C 9: 26,792,124 (GRCm39) Q632R probably benign Het
Gm12185 C T 11: 48,798,738 (GRCm39) R585Q probably damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gm7489 A C 15: 53,749,195 (GRCm39) E89A unknown Het
Grb7 C T 11: 98,344,655 (GRCm39) Q353* probably null Het
Ifi207 G A 1: 173,562,738 (GRCm39) T136I unknown Het
Ighv3-1 T C 12: 113,928,224 (GRCm39) Y45C probably benign Het
Ing5 A G 1: 93,739,668 (GRCm39) M92V possibly damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Lmo7 C T 14: 102,124,923 (GRCm39) Q583* probably null Het
Lrrc37a T C 11: 103,395,338 (GRCm39) D29G probably benign Het
Mpdz G T 4: 81,337,263 (GRCm39) A10D probably damaging Het
Myh4 A G 11: 67,131,821 (GRCm39) M94V possibly damaging Het
Nectin2 A C 7: 19,472,252 (GRCm39) L46V probably benign Het
Nynrin A T 14: 56,101,425 (GRCm39) T365S probably benign Het
Or4c120 A T 2: 89,000,977 (GRCm39) I193K probably benign Het
Pde4b A C 4: 102,459,875 (GRCm39) E570A probably damaging Het
Phf3 T C 1: 30,855,622 (GRCm39) H988R probably damaging Het
Ppfia2 A G 10: 106,763,708 (GRCm39) K1234E probably benign Het
Prl7c1 A T 13: 27,957,741 (GRCm39) M233K probably benign Het
Prp2 C T 6: 132,577,510 (GRCm39) P266S unknown Het
Ralgds T C 2: 28,432,486 (GRCm39) L160P probably damaging Het
Rasa1 A T 13: 85,375,237 (GRCm39) M664K possibly damaging Het
Ryr2 T C 13: 11,570,334 (GRCm39) T4930A probably benign Het
Senp8 T C 9: 59,644,763 (GRCm39) Y131C probably damaging Het
Sp100 A G 1: 85,635,837 (GRCm39) I547M probably benign Het
Spata20 A G 11: 94,375,434 (GRCm39) M120T probably damaging Het
Spata31 A G 13: 65,069,664 (GRCm39) H604R probably benign Het
Sycp1 A T 3: 102,842,149 (GRCm39) S53T probably benign Het
Tgm1 T C 14: 55,950,022 (GRCm39) D62G unknown Het
Trpm1 G C 7: 63,918,309 (GRCm39) E1434Q possibly damaging Het
Tshb A T 3: 102,685,480 (GRCm39) Y50N probably damaging Het
Wdr17 A T 8: 55,126,614 (GRCm39) Y413* probably null Het
Zdhhc16 G A 19: 41,926,209 (GRCm39) G55R possibly 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
IGL02623:Adgrd1 APN 5 129,209,809 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GGCTTGCATGAACGGTGTTC -3'
(R):5'- AGGGATGCTTTAATCCTCAGACTC -3'

Sequencing Primer
(F):5'- GAACGGTGTTCAGAAGCAATTTAC -3'
(R):5'- TAATGCATGGAGTAAGAGCCCTTCC -3'
Posted On 2019-06-07