Incidental Mutation 'R5616:Gpr33'
ID439543
Institutional Source Beutler Lab
Gene Symbol Gpr33
Ensembl Gene ENSMUSG00000035148
Gene NameG protein-coupled receptor 33
Synonyms
MMRRC Submission 043159-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5616 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location52023003-52028063 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52023594 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 221 (I221V)
Ref Sequence ENSEMBL: ENSMUSP00000048059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040161]
Predicted Effect probably damaging
Transcript: ENSMUST00000040161
AA Change: I221V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048059
Gene: ENSMUSG00000035148
AA Change: I221V

DomainStartEndE-ValueType
Pfam:7tm_1 46 299 3.6e-32 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,772,360 D443E probably benign Het
Arhgef5 A G 6: 43,275,940 D1037G probably benign Het
B3glct T A 5: 149,729,934 L148* probably null Het
Cacna1e G A 1: 154,442,194 P1481S probably damaging Het
Cacna1h C A 17: 25,377,667 R117L probably damaging Het
Cct6b A T 11: 82,741,349 V271E probably damaging Het
Cenpf A G 1: 189,657,286 S1450P probably damaging Het
Cul1 G A 6: 47,523,788 R707H probably damaging Het
Dcakd A G 11: 102,995,005 L191P possibly damaging Het
Dhx32 T C 7: 133,721,228 *612W probably null Het
Disp1 T A 1: 183,088,349 T836S probably benign Het
Dppa4 T A 16: 48,291,030 V126D probably damaging Het
Fam98b A G 2: 117,267,786 T246A possibly damaging Het
Fkbp4 A T 6: 128,433,554 V273E probably damaging Het
Gm7102 C T 19: 61,175,926 G24R unknown Het
Gpr31b A G 17: 13,051,944 Y113H probably damaging Het
Klhl1 A G 14: 96,518,293 F9L probably benign Het
Larp4b T A 13: 9,158,659 N449K probably damaging Het
Loxhd1 T C 18: 77,404,951 S1363P probably damaging Het
Lrrc8a T C 2: 30,255,354 V60A probably benign Het
Matn3 A G 12: 8,948,195 H51R probably benign Het
Mtrf1 T C 14: 79,401,445 C6R possibly damaging Het
Myh6 T C 14: 54,956,581 S784G probably benign Het
Nfkb2 G T 19: 46,307,567 E170D probably benign Het
Nipal3 T C 4: 135,452,404 Y401C probably benign Het
Pcdhb20 A G 18: 37,504,532 E37G probably damaging Het
Pelp1 G A 11: 70,394,862 P727S possibly damaging Het
Prkca T C 11: 107,978,343 D472G possibly damaging Het
Ptprg A G 14: 12,122,120 H328R probably benign Het
Rtl1 C T 12: 109,592,739 E889K unknown Het
Rubcn T C 16: 32,826,923 D715G possibly damaging Het
Snurf C T 7: 59,999,385 E15K possibly damaging Het
Sptbn5 G A 2: 120,046,484 probably benign Het
Srp72 T G 5: 76,987,934 L237R probably damaging Het
Syne3 T C 12: 104,955,678 E406G probably damaging Het
Tgm2 A G 2: 158,128,720 S340P probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,807,365 probably benign Het
Tsc22d1 T C 14: 76,416,217 probably benign Het
Tsc22d2 G T 3: 58,417,162 probably benign Het
Vmn1r42 T C 6: 89,845,102 I162V possibly damaging Het
Vmn2r59 A G 7: 42,058,767 probably null Het
Wnt3 T C 11: 103,812,770 probably null Het
Other mutations in Gpr33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Gpr33 APN 12 52023560 missense probably damaging 0.98
IGL02177:Gpr33 APN 12 52024080 missense probably benign 0.00
IGL03090:Gpr33 APN 12 52024026 missense probably damaging 0.99
R0883:Gpr33 UTSW 12 52023635 missense probably benign 0.17
R1112:Gpr33 UTSW 12 52023372 missense probably damaging 1.00
R1127:Gpr33 UTSW 12 52023469 missense probably damaging 1.00
R1742:Gpr33 UTSW 12 52024262 critical splice acceptor site probably null
R1967:Gpr33 UTSW 12 52024208 missense probably benign
R2208:Gpr33 UTSW 12 52023453 missense probably benign 0.00
R2917:Gpr33 UTSW 12 52023596 missense possibly damaging 0.63
R4308:Gpr33 UTSW 12 52023640 nonsense probably null
R4725:Gpr33 UTSW 12 52024109 missense probably damaging 1.00
R7055:Gpr33 UTSW 12 52024253 start codon destroyed probably null 0.99
R7272:Gpr33 UTSW 12 52024065 missense probably damaging 0.99
R7419:Gpr33 UTSW 12 52023267 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCAAGTCCCAGTGTCAAGTG -3'
(R):5'- AAATCTGGATTTCTGCCACTATCC -3'

Sequencing Primer
(F):5'- TCCCAGTGTCAAGTGTAAAGG -3'
(R):5'- GCATACCCTATTTAGTTTTCAGGAC -3'
Posted On2016-11-08