Incidental Mutation 'R1112:Gpr33'
ID 96877
Institutional Source Beutler Lab
Gene Symbol Gpr33
Ensembl Gene ENSMUSG00000035148
Gene Name G protein-coupled receptor 33
Synonyms
MMRRC Submission 039185-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1112 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 52069786-52074846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52070155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 295 (S295P)
Ref Sequence ENSEMBL: ENSMUSP00000048059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040161]
AlphaFold O88416
Predicted Effect probably damaging
Transcript: ENSMUST00000040161
AA Change: S295P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048059
Gene: ENSMUSG00000035148
AA Change: S295P

DomainStartEndE-ValueType
Pfam:7tm_1 46 299 3.6e-32 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak7 A G 12: 105,679,831 (GRCm39) N122D probably benign Het
Arb2a A G 13: 77,910,005 (GRCm39) Y40C probably damaging Het
Atrn A G 2: 130,841,081 (GRCm39) D1161G probably benign Het
Bscl2 G C 19: 8,817,098 (GRCm39) G9R possibly damaging Het
Clstn2 T C 9: 97,340,281 (GRCm39) N697S possibly damaging Het
Ctnnd2 T C 15: 30,922,026 (GRCm39) V884A probably damaging Het
Dusp10 A T 1: 183,769,097 (GRCm39) Q21L probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Foxn1 A G 11: 78,261,856 (GRCm39) F171S probably benign Het
Fxr2 A G 11: 69,543,074 (GRCm39) S624G probably damaging Het
Gorasp2 C A 2: 70,521,158 (GRCm39) P376Q probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hap1 C T 11: 100,245,143 (GRCm39) V23M probably damaging Het
Hsd3b5 C T 3: 98,537,393 (GRCm39) R41Q probably benign Het
Kif1c T G 11: 70,615,641 (GRCm39) probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Madd A G 2: 90,973,944 (GRCm39) C1447R probably damaging Het
Myef2 A C 2: 124,939,506 (GRCm39) M426R probably damaging Het
Myh13 A T 11: 67,245,576 (GRCm39) D1072V probably damaging Het
Or1e34 A C 11: 73,779,060 (GRCm39) L46R probably damaging Het
Or51a5 C T 7: 102,771,611 (GRCm39) D123N probably damaging Het
Orc4 A T 2: 48,823,584 (GRCm39) N90K probably damaging Het
Padi4 C T 4: 140,485,427 (GRCm39) S246N probably benign Het
Pcdhb22 A T 18: 37,652,821 (GRCm39) T430S possibly damaging Het
Prkd3 T C 17: 79,273,837 (GRCm39) D473G probably damaging Het
Scn4a T C 11: 106,211,292 (GRCm39) Y1575C probably damaging Het
Serpinb6d A G 13: 33,853,118 (GRCm39) Y170C probably damaging Het
Slc12a2 A T 18: 58,070,824 (GRCm39) I1059L probably benign Het
Slc36a4 T A 9: 15,634,811 (GRCm39) F118I possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srpra A G 9: 35,126,255 (GRCm39) T483A probably benign Het
Sycp2 A T 2: 177,994,329 (GRCm39) D1198E probably benign Het
Ubash3b T C 9: 40,939,412 (GRCm39) N287D probably damaging Het
Uggt1 T C 1: 36,212,627 (GRCm39) D905G possibly damaging Het
Zfp692 T C 11: 58,202,388 (GRCm39) L381P probably damaging Het
Other mutations in Gpr33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Gpr33 APN 12 52,070,343 (GRCm39) missense probably damaging 0.98
IGL02177:Gpr33 APN 12 52,070,863 (GRCm39) missense probably benign 0.00
IGL03090:Gpr33 APN 12 52,070,809 (GRCm39) missense probably damaging 0.99
R0883:Gpr33 UTSW 12 52,070,418 (GRCm39) missense probably benign 0.17
R1127:Gpr33 UTSW 12 52,070,252 (GRCm39) missense probably damaging 1.00
R1742:Gpr33 UTSW 12 52,071,045 (GRCm39) critical splice acceptor site probably null
R1967:Gpr33 UTSW 12 52,070,991 (GRCm39) missense probably benign
R2208:Gpr33 UTSW 12 52,070,236 (GRCm39) missense probably benign 0.00
R2917:Gpr33 UTSW 12 52,070,379 (GRCm39) missense possibly damaging 0.63
R4308:Gpr33 UTSW 12 52,070,423 (GRCm39) nonsense probably null
R4725:Gpr33 UTSW 12 52,070,892 (GRCm39) missense probably damaging 1.00
R5616:Gpr33 UTSW 12 52,070,377 (GRCm39) missense probably damaging 0.99
R7055:Gpr33 UTSW 12 52,071,036 (GRCm39) start codon destroyed probably null 0.99
R7272:Gpr33 UTSW 12 52,070,848 (GRCm39) missense probably damaging 0.99
R7419:Gpr33 UTSW 12 52,070,050 (GRCm39) missense probably benign 0.00
R8313:Gpr33 UTSW 12 52,070,907 (GRCm39) missense probably benign 0.00
R8514:Gpr33 UTSW 12 52,070,181 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CATACTTCCATCATGGCCCATTGCTT -3'
(R):5'- TCATGCAGCCTGTTTCGTCGG -3'

Sequencing Primer
(F):5'- ttcttaatcactgagccatctctcc -3'
(R):5'- AGAAGGGACTCTTTAAATCCAGC -3'
Posted On 2014-01-05