Incidental Mutation 'R4581:Adgrd1'
ID 343666
Institutional Source Beutler Lab
Gene Symbol Adgrd1
Ensembl Gene ENSMUSG00000044017
Gene Name adhesion G protein-coupled receptor D1
Synonyms E230012M21Rik, Gpr133
MMRRC Submission 041802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4581 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 129096750-129204599 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129202531 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 863 (A863V)
Ref Sequence ENSEMBL: ENSMUSP00000121217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056617] [ENSMUST00000156437]
AlphaFold Q80T32
Predicted Effect possibly damaging
Transcript: ENSMUST00000056617
AA Change: A895V

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: A895V

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 possibly damaging
Transcript: ENSMUST00000156437
AA Change: A863V

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: A863V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,171,798 (GRCm38) P20T possibly damaging Het
3425401B19Rik G T 14: 32,661,871 (GRCm38) S712R possibly damaging Het
4933427I04Rik A G 4: 123,860,353 (GRCm38) D20G possibly damaging Het
Abca7 A G 10: 80,006,568 (GRCm38) D1112G probably benign Het
Actc1 G T 2: 114,049,608 (GRCm38) H175N possibly damaging Het
Ankrd17 T C 5: 90,283,120 (GRCm38) D935G possibly damaging Het
Ankrd7 T A 6: 18,868,021 (GRCm38) N95K probably damaging Het
Arhgef4 G A 1: 34,732,124 (GRCm38) E1171K possibly damaging Het
Ascc3 T C 10: 50,711,025 (GRCm38) I991T probably damaging Het
Cacna1s T A 1: 136,070,970 (GRCm38) probably null Het
Camk1d A T 2: 5,354,704 (GRCm38) V177E probably benign Het
Cdh18 T A 15: 23,226,783 (GRCm38) I110N probably damaging Het
Cenpe A G 3: 135,247,000 (GRCm38) K1484E probably benign Het
Cep68 A G 11: 20,239,333 (GRCm38) S560P probably benign Het
Cog3 G T 14: 75,732,951 (GRCm38) T352K probably benign Het
Cox6a2 A G 7: 128,205,980 (GRCm38) S44P possibly damaging Het
Csmd2 T C 4: 128,369,088 (GRCm38) V689A probably benign Het
Ddx60 A T 8: 62,023,261 (GRCm38) M1548L possibly damaging Het
Dennd5b G T 6: 149,016,984 (GRCm38) silent Het
Dlgap2 T C 8: 14,846,679 (GRCm38) Y1052H probably damaging Het
Dnaaf5 T A 5: 139,184,685 (GRCm38) D502E probably damaging Het
Efhb C A 17: 53,426,275 (GRCm38) A523S probably damaging Het
Epha8 C T 4: 136,933,464 (GRCm38) V648M probably damaging Het
Fanca C T 8: 123,274,338 (GRCm38) probably null Het
Fbxw7 G A 3: 84,967,545 (GRCm38) E205K probably benign Het
Fer1l6 C T 15: 58,640,226 (GRCm38) T1514I probably damaging Het
Gm12886 T C 4: 121,416,683 (GRCm38) E112G probably damaging Het
Gm7535 T C 17: 17,911,083 (GRCm38) probably benign Het
Irf2bp2 T A 8: 126,591,255 (GRCm38) Q524L probably damaging Het
Itih4 A G 14: 30,900,968 (GRCm38) D864G probably benign Het
Kdm4c T G 4: 74,357,339 (GRCm38) probably null Het
Ltn1 A T 16: 87,402,024 (GRCm38) probably null Het
Mafa G T 15: 75,747,736 (GRCm38) P63T unknown Het
Mars2 T A 1: 55,237,862 (GRCm38) L208H probably damaging Het
Myom2 A G 8: 15,106,459 (GRCm38) I769V probably benign Het
Nyap1 A G 5: 137,736,022 (GRCm38) S250P probably damaging Het
Olfr1082 A T 2: 86,594,228 (GRCm38) M200K probably benign Het
Osmr C T 15: 6,842,894 (GRCm38) V240I probably benign Het
Pcdhga3 A G 18: 37,676,881 (GRCm38) T796A probably benign Het
Pclo T C 5: 14,675,505 (GRCm38) V1459A unknown Het
Phactr3 A C 2: 178,283,172 (GRCm38) H300P probably damaging Het
Pla2g4e T G 2: 120,186,382 (GRCm38) H226P possibly damaging Het
Plcd4 T A 1: 74,548,224 (GRCm38) W48R probably damaging Het
Prdm16 A G 4: 154,323,353 (GRCm38) S1140P probably damaging Het
Rarg A C 15: 102,252,551 (GRCm38) S18A possibly damaging Het
Rfx4 T A 10: 84,844,300 (GRCm38) S114T possibly damaging Het
Sec14l4 G A 11: 4,043,375 (GRCm38) probably null Het
Six1 T G 12: 73,045,934 (GRCm38) T165P probably benign Het
Skint4 T C 4: 112,087,042 (GRCm38) L17P probably damaging Het
Slc25a23 T A 17: 57,052,740 (GRCm38) Y337F probably damaging Het
Slc9a3 A G 13: 74,164,165 (GRCm38) Y627C probably damaging Het
Smu1 A C 4: 40,737,401 (GRCm38) probably null Het
Spryd3 A G 15: 102,130,364 (GRCm38) S141P probably damaging Het
Src A T 2: 157,463,038 (GRCm38) N175I probably damaging Het
Srcap GCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCT 7: 127,558,310 (GRCm38) probably benign Het
Stc2 A G 11: 31,365,326 (GRCm38) probably null Het
Taf6l T C 19: 8,778,208 (GRCm38) D261G probably damaging Het
Tal1 T G 4: 115,064,722 (GRCm38) V167G probably damaging Het
Tfec G A 6: 16,834,125 (GRCm38) T261I probably damaging Het
Tgfb1 G T 7: 25,697,230 (GRCm38) S273I possibly damaging Het
Tmem8b T A 4: 43,685,760 (GRCm38) V636E probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trappc11 A T 8: 47,493,345 (GRCm38) M1084K probably damaging Het
Trem3 A C 17: 48,249,611 (GRCm38) T37P possibly damaging Het
Ttc7b G A 12: 100,500,117 (GRCm38) R79C probably damaging Het
Urb1 T C 16: 90,788,146 (GRCm38) D529G probably benign Het
Vmn2r8 T A 5: 108,801,704 (GRCm38) T426S probably benign Het
Yipf4 T C 17: 74,499,094 (GRCm38) Y243H probably benign Het
Zfp574 T A 7: 25,081,313 (GRCm38) C587S probably damaging Het
Zfp93 C A 7: 24,275,668 (GRCm38) H359Q probably damaging Het
Znfx1 T C 2: 167,050,316 (GRCm38) E660G probably damaging Het
Other mutations in Adgrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Adgrd1 APN 5 129,139,592 (GRCm38) missense probably benign 0.06
IGL01384:Adgrd1 APN 5 129,097,209 (GRCm38) missense possibly damaging 0.47
IGL01636:Adgrd1 APN 5 129,142,452 (GRCm38) splice site probably benign
IGL01916:Adgrd1 APN 5 129,132,838 (GRCm38) missense probably benign 0.12
IGL01923:Adgrd1 APN 5 129,178,079 (GRCm38) missense possibly damaging 0.58
IGL02019:Adgrd1 APN 5 129,115,138 (GRCm38) missense probably benign 0.00
IGL02142:Adgrd1 APN 5 129,131,584 (GRCm38) missense probably benign
IGL02149:Adgrd1 APN 5 129,179,261 (GRCm38) missense probably damaging 1.00
IGL02190:Adgrd1 APN 5 129,140,724 (GRCm38) splice site probably benign
IGL02623:Adgrd1 APN 5 129,132,745 (GRCm38) missense probably damaging 0.99
IGL02696:Adgrd1 APN 5 129,140,854 (GRCm38) splice site probably benign
IGL02850:Adgrd1 APN 5 129,115,055 (GRCm38) missense probably damaging 1.00
IGL02976:Adgrd1 APN 5 129,131,597 (GRCm38) missense probably benign 0.00
IGL02988:Adgrd1 UTSW 5 129,144,010 (GRCm38) missense probably benign 0.00
PIT4458001:Adgrd1 UTSW 5 129,131,577 (GRCm38) missense probably damaging 1.00
R0081:Adgrd1 UTSW 5 129,178,082 (GRCm38) missense probably damaging 0.99
R0266:Adgrd1 UTSW 5 129,139,594 (GRCm38) missense probably benign 0.00
R0267:Adgrd1 UTSW 5 129,139,594 (GRCm38) missense probably benign 0.00
R0464:Adgrd1 UTSW 5 129,162,650 (GRCm38) missense probably damaging 1.00
R0625:Adgrd1 UTSW 5 129,171,931 (GRCm38) critical splice donor site probably null
R1288:Adgrd1 UTSW 5 129,129,007 (GRCm38) missense probably damaging 0.97
R1460:Adgrd1 UTSW 5 129,122,563 (GRCm38) missense possibly damaging 0.63
R1635:Adgrd1 UTSW 5 129,128,907 (GRCm38) missense probably damaging 1.00
R1658:Adgrd1 UTSW 5 129,178,100 (GRCm38) missense probably benign 0.02
R1709:Adgrd1 UTSW 5 129,179,228 (GRCm38) missense possibly damaging 0.95
R1897:Adgrd1 UTSW 5 129,129,001 (GRCm38) missense probably benign 0.01
R1976:Adgrd1 UTSW 5 129,140,797 (GRCm38) missense probably benign 0.06
R2049:Adgrd1 UTSW 5 129,115,095 (GRCm38) missense probably benign 0.01
R2259:Adgrd1 UTSW 5 129,112,311 (GRCm38) missense possibly damaging 0.92
R2295:Adgrd1 UTSW 5 129,122,506 (GRCm38) missense probably benign 0.13
R3076:Adgrd1 UTSW 5 129,129,105 (GRCm38) missense probably benign 0.20
R3077:Adgrd1 UTSW 5 129,129,105 (GRCm38) missense probably benign 0.20
R3078:Adgrd1 UTSW 5 129,129,105 (GRCm38) missense probably benign 0.20
R5024:Adgrd1 UTSW 5 129,171,895 (GRCm38) missense probably damaging 1.00
R5076:Adgrd1 UTSW 5 129,143,989 (GRCm38) nonsense probably null
R5227:Adgrd1 UTSW 5 129,122,583 (GRCm38) missense probably benign 0.00
R5453:Adgrd1 UTSW 5 129,179,583 (GRCm38) missense probably damaging 0.99
R6349:Adgrd1 UTSW 5 129,142,539 (GRCm38) splice site probably null
R6953:Adgrd1 UTSW 5 129,115,078 (GRCm38) nonsense probably null
R7300:Adgrd1 UTSW 5 129,097,347 (GRCm38) critical splice donor site probably null
R7583:Adgrd1 UTSW 5 129,179,588 (GRCm38) missense probably benign 0.42
R7622:Adgrd1 UTSW 5 129,139,624 (GRCm38) missense probably benign 0.27
R8205:Adgrd1 UTSW 5 129,115,111 (GRCm38) missense possibly damaging 0.94
R8716:Adgrd1 UTSW 5 129,188,371 (GRCm38) missense possibly damaging 0.94
R8780:Adgrd1 UTSW 5 129,097,074 (GRCm38) start gained probably benign
R8850:Adgrd1 UTSW 5 129,142,510 (GRCm38) missense probably benign 0.00
R9528:Adgrd1 UTSW 5 129,179,676 (GRCm38) missense probably benign 0.44
R9569:Adgrd1 UTSW 5 129,179,637 (GRCm38) missense possibly damaging 0.90
R9626:Adgrd1 UTSW 5 129,198,657 (GRCm38) missense probably damaging 1.00
X0067:Adgrd1 UTSW 5 129,188,352 (GRCm38) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GCTCTAGTCTGGACCCTTTG -3'
(R):5'- CAGGACGTTCTGCACAGTCATAG -3'

Sequencing Primer
(F):5'- CAGAGCCTTGTGTCTCAGAAG -3'
(R):5'- CAGTCATAGGTAGGGGCCATTATCC -3'
Posted On 2015-09-24