Incidental Mutation 'R5076:Adgrd1'
ID 395761
Institutional Source Beutler Lab
Gene Symbol Adgrd1
Ensembl Gene ENSMUSG00000044017
Gene Name adhesion G protein-coupled receptor D1
Synonyms Gpr133, E230012M21Rik
MMRRC Submission 042665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5076 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 129173814-129281663 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 129221053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 449 (R449*)
Ref Sequence ENSEMBL: ENSMUSP00000121217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056617] [ENSMUST00000156437]
AlphaFold Q80T32
Predicted Effect probably null
Transcript: ENSMUST00000056617
AA Change: R481*
SMART Domains Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: R481*

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 null
Transcript: ENSMUST00000156437
AA Change: R449*
SMART Domains Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: R449*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.0%
Validation Efficiency 97% (66/68)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,963,559 (GRCm39) I72V probably benign Het
Aadacl3 G A 4: 144,182,640 (GRCm39) P276L possibly damaging Het
Acp6 T A 3: 97,075,305 (GRCm39) S180T probably benign Het
Ak1 T C 2: 32,523,460 (GRCm39) V176A probably damaging Het
Capzb A T 4: 139,015,125 (GRCm39) D226V possibly damaging Het
Cd34 A T 1: 194,630,338 (GRCm39) probably benign Het
Cdh15 C A 8: 123,591,087 (GRCm39) D445E possibly damaging Het
Chil4 A G 3: 106,109,913 (GRCm39) F367L probably damaging Het
Clstn2 T C 9: 97,365,132 (GRCm39) Y458C probably damaging Het
Cplane2 A G 4: 140,944,696 (GRCm39) I82M probably benign Het
Ctsw T C 19: 5,518,486 (GRCm39) Y9C probably benign Het
Dhrs7 T C 12: 72,706,255 (GRCm39) D50G probably benign Het
Dnah14 A G 1: 181,584,799 (GRCm39) K3177E probably benign Het
Ehd1 T C 19: 6,327,251 (GRCm39) F83L probably benign Het
Eif5a2 G A 3: 28,836,886 (GRCm39) V59I possibly damaging Het
Emilin3 T A 2: 160,751,238 (GRCm39) probably null Het
Entpd8 A G 2: 24,975,066 (GRCm39) S426G possibly damaging Het
Epb41l4b C T 4: 57,040,984 (GRCm39) G493D probably damaging Het
Gm11596 C T 11: 99,683,698 (GRCm39) G141R unknown Het
Gpi-ps T G 8: 5,690,130 (GRCm39) noncoding transcript Het
H2-Q4 T C 17: 35,599,417 (GRCm39) Y167H probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Itpr1 A G 6: 108,382,490 (GRCm39) probably null Het
Kif2c A T 4: 117,032,066 (GRCm39) probably benign Het
Klrb1-ps1 C T 6: 129,096,751 (GRCm39) noncoding transcript Het
Krtap9-5 A T 11: 99,840,294 (GRCm39) T332S unknown Het
Lrrc39 A T 3: 116,373,189 (GRCm39) E283V probably benign Het
Mdga1 A G 17: 30,069,528 (GRCm39) S447P possibly damaging Het
Mindy1 G A 3: 95,202,710 (GRCm39) V425M probably benign Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrps5 T A 2: 127,442,772 (GRCm39) Y280* probably null Het
Muc3a T A 5: 137,244,997 (GRCm39) T159S probably damaging Het
Or10ad1b T A 15: 98,124,642 (GRCm39) I295F probably damaging Het
Or4a79 T A 2: 89,551,745 (GRCm39) T237S probably damaging Het
Or4f6 A T 2: 111,838,937 (GRCm39) M198K probably damaging Het
Pcdhga4 G A 18: 37,818,648 (GRCm39) V66I probably benign Het
Pdhx T C 2: 102,871,422 (GRCm39) T203A probably damaging Het
Pdss1 A G 2: 22,789,929 (GRCm39) probably null Het
Pdxk G T 10: 78,286,141 (GRCm39) Q103K probably benign Het
Peg3 A G 7: 6,711,419 (GRCm39) C1268R probably damaging Het
Pitpnc1 A T 11: 107,187,093 (GRCm39) S77T probably damaging Het
Pnisr T A 4: 21,874,990 (GRCm39) probably benign Het
Poc1b C T 10: 98,943,703 (GRCm39) T22I probably damaging Het
Ppfia1 G A 7: 144,060,001 (GRCm39) R604W probably damaging Het
Ppp1r3a A G 6: 14,754,680 (GRCm39) F189S probably damaging Het
Rbks T A 5: 31,807,795 (GRCm39) Y99* probably null Het
Sh3rf2 G T 18: 42,186,989 (GRCm39) C36F probably damaging Het
Spock3 T A 8: 63,798,889 (GRCm39) N303K probably damaging Het
Tasor2 C T 13: 3,626,357 (GRCm39) V1198I probably benign Het
Tcaf2 T C 6: 42,606,401 (GRCm39) T518A probably benign Het
Tmem163 A T 1: 127,428,013 (GRCm39) V191D probably damaging Het
Trappc6b A G 12: 59,097,094 (GRCm39) V76A probably damaging Het
Ube2nl A G 7: 61,199,280 (GRCm39) noncoding transcript Het
Unc5d C T 8: 29,184,704 (GRCm39) V599M possibly damaging Het
Vmn1r184 A T 7: 25,966,346 (GRCm39) M31L probably benign Het
Vrtn C A 12: 84,696,248 (GRCm39) Q333K probably damaging Het
Zfp788 T A 7: 41,298,008 (GRCm39) F163I possibly damaging Het
Zfyve1 C T 12: 83,602,421 (GRCm39) R458H 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
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
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
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'- TCACACTTCCAAGAGGATAAAACGG -3'
(R):5'- AAATGGGCTCCTTACCCAGC -3'

Sequencing Primer
(F):5'- CGGAGGGACAGAAATAAGATGCTC -3'
(R):5'- TCGTCACTCCATGCCACAGG -3'
Posted On 2016-06-21