Incidental Mutation 'R1203:Or52h2'
ID 100258
Institutional Source Beutler Lab
Gene Symbol Or52h2
Ensembl Gene ENSMUSG00000044899
Gene Name olfactory receptor family 52 subfamily H member 2
Synonyms MOR31-7, GA_x6K02T2PBJ9-6924585-6923647, Olfr649
MMRRC Submission 039273-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1203 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103838474-103839412 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 103839060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 118 (L118*)
Ref Sequence ENSEMBL: ENSMUSP00000102472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060440] [ENSMUST00000106859]
AlphaFold Q8VGW1
Predicted Effect probably null
Transcript: ENSMUST00000060440
AA Change: L118*
SMART Domains Protein: ENSMUSP00000050903
Gene: ENSMUSG00000044899
AA Change: L118*

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 308 8.3e-7 PFAM
Pfam:7tm_1 43 294 3.7e-30 PFAM
Pfam:7tm_4 142 287 4.7e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106859
AA Change: L118*
SMART Domains Protein: ENSMUSP00000102472
Gene: ENSMUSG00000044899
AA Change: L118*

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.9e-111 PFAM
Pfam:7TM_GPCR_Srsx 37 308 8.3e-7 PFAM
Pfam:7tm_1 43 294 5e-20 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.6%
  • 20x: 89.3%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,588,818 (GRCm39) R78S probably damaging Het
Aadacl3 T C 4: 144,190,140 (GRCm39) T54A probably benign Het
Adcy8 A G 15: 64,618,780 (GRCm39) I791T probably damaging Het
Aldh1b1 A G 4: 45,803,359 (GRCm39) D299G probably damaging Het
Aoah A G 13: 21,000,764 (GRCm39) E66G probably damaging Het
Atl2 G T 17: 80,160,334 (GRCm39) H418N probably damaging Het
Atp6v1d A G 12: 78,908,214 (GRCm39) I7T possibly damaging Het
Calhm3 C T 19: 47,143,839 (GRCm39) V155M probably damaging Het
Carmil1 A T 13: 24,282,989 (GRCm39) I105K probably damaging Het
Csrp3 C A 7: 48,489,278 (GRCm39) M1I probably null Het
Dnah10 T A 5: 124,837,078 (GRCm39) probably null Het
Dnah11 T C 12: 117,897,547 (GRCm39) N3561S possibly damaging Het
Dzip3 A T 16: 48,772,180 (GRCm39) D496E probably damaging Het
Eif2ak1 T C 5: 143,820,797 (GRCm39) V246A probably benign Het
Fam171b T A 2: 83,643,313 (GRCm39) V74E probably benign Het
Gm14137 C T 2: 119,005,605 (GRCm39) R55W probably damaging Het
Gm4950 T C 18: 51,998,830 (GRCm39) I42V probably benign Het
Gpr35 T C 1: 92,910,870 (GRCm39) V194A probably damaging Het
Kdm5d C T Y: 941,011 (GRCm39) S1132F probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Ncln A G 10: 81,332,027 (GRCm39) V24A possibly damaging Het
Nphp4 A G 4: 152,573,289 (GRCm39) K76E probably damaging Het
Nsf CAATAATAATAATAATA CAATAATAATAATAATAATA 11: 103,816,952 (GRCm39) probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Pcbd2 G A 13: 55,880,881 (GRCm39) probably null Het
Rapgef6 T A 11: 54,582,525 (GRCm39) V1479D probably benign Het
Rnf43 T C 11: 87,618,301 (GRCm39) probably benign Het
Robo3 A G 9: 37,329,978 (GRCm39) W1113R probably damaging Het
Sall1 A T 8: 89,758,562 (GRCm39) V514E probably damaging Het
Sgpp1 A G 12: 75,763,056 (GRCm39) I375T probably benign Het
Strc T C 2: 121,202,604 (GRCm39) N1187S possibly damaging Het
Tbc1d17 G A 7: 44,492,895 (GRCm39) R363W probably damaging Het
Tbcd A G 11: 121,366,451 (GRCm39) Q242R probably benign Het
Tbcel A C 9: 42,362,947 (GRCm39) V50G probably damaging Het
Tead3 C T 17: 28,560,536 (GRCm39) A23T probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tlcd5 A G 9: 43,022,775 (GRCm39) V193A probably benign Het
Tmem241 G T 18: 12,217,035 (GRCm39) probably benign Het
Tmtc3 G T 10: 100,312,606 (GRCm39) T79K probably damaging Het
Utrn A G 10: 12,362,281 (GRCm39) V241A probably damaging Het
Vps8 A T 16: 21,330,307 (GRCm39) I729F probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Or52h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4403001:Or52h2 UTSW 7 103,838,667 (GRCm39) missense probably benign 0.24
R0285:Or52h2 UTSW 7 103,838,531 (GRCm39) nonsense probably null
R1448:Or52h2 UTSW 7 103,839,082 (GRCm39) missense possibly damaging 0.81
R4514:Or52h2 UTSW 7 103,838,598 (GRCm39) missense probably benign 0.00
R4925:Or52h2 UTSW 7 103,839,387 (GRCm39) missense possibly damaging 0.85
R6023:Or52h2 UTSW 7 103,838,880 (GRCm39) missense probably damaging 1.00
R7659:Or52h2 UTSW 7 103,839,394 (GRCm39) missense probably benign 0.33
R8049:Or52h2 UTSW 7 103,839,017 (GRCm39) missense probably damaging 1.00
R9115:Or52h2 UTSW 7 103,838,931 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- GGGCAACACCAATGTGTTCACAG -3'
(R):5'- CTGGGCAACAGCATCCTTCTCTAC -3'

Sequencing Primer
(F):5'- CACCAATGTGTTCACAGTAGGTATG -3'
(R):5'- TGCAGTGGAACACAGTCTTC -3'
Posted On 2014-01-15