Incidental Mutation 'R6023:Or52h2'
ID 479039
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 044195-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6023 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103838474-103839412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103838880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 178 (H178R)
Ref Sequence ENSEMBL: ENSMUSP00000102472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060440] [ENSMUST00000106859]
AlphaFold Q8VGW1
Predicted Effect probably damaging
Transcript: ENSMUST00000060440
AA Change: H178R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050903
Gene: ENSMUSG00000044899
AA Change: H178R

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 damaging
Transcript: ENSMUST00000106859
AA Change: H178R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102472
Gene: ENSMUSG00000044899
AA Change: H178R

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,757,843 (GRCm39) N1302S possibly damaging Het
Aff3 A T 1: 38,257,451 (GRCm39) S424T probably damaging Het
Ap2b1 C T 11: 83,226,224 (GRCm39) T207M probably damaging Het
Appl2 T C 10: 83,484,393 (GRCm39) Q18R probably null Het
Atrn T C 2: 130,862,900 (GRCm39) F1327L probably benign Het
Birc6 A T 17: 74,961,372 (GRCm39) I47F probably benign Het
Cdh23 A T 10: 60,301,321 (GRCm39) I451N probably damaging Het
Clec3a A G 8: 115,144,883 (GRCm39) T20A possibly damaging Het
Cpz T A 5: 35,669,922 (GRCm39) I252F probably benign Het
Ctc1 A G 11: 68,913,433 (GRCm39) D143G probably benign Het
Dhrs1 A T 14: 55,981,127 (GRCm39) Y94* probably null Het
Dnajc25 A G 4: 59,013,752 (GRCm39) K157E possibly damaging Het
Dpp6 T C 5: 27,928,545 (GRCm39) I789T probably damaging Het
Duox1 T G 2: 122,168,165 (GRCm39) F1097V probably benign Het
Ercc8 A G 13: 108,315,111 (GRCm39) T242A probably damaging Het
Evc2 T A 5: 37,505,960 (GRCm39) M93K probably benign Het
Glra1 A T 11: 55,424,679 (GRCm39) V94E probably damaging Het
Got1l1 A T 8: 27,689,932 (GRCm39) Y151* probably null Het
Hcrtr2 T A 9: 76,137,886 (GRCm39) I410F probably benign Het
Ighv1-72 T A 12: 115,721,532 (GRCm39) probably benign Het
Kel C A 6: 41,674,409 (GRCm39) E340D probably benign Het
Kif11 A G 19: 37,379,158 (GRCm39) E283G probably damaging Het
Klk4 T G 7: 43,533,482 (GRCm39) F114V probably benign Het
Krt7 T C 15: 101,310,278 (GRCm39) probably benign Het
Lrrc74a A G 12: 86,805,380 (GRCm39) I401V probably damaging Het
Luzp2 T C 7: 54,707,815 (GRCm39) S68P possibly damaging Het
Naip1 T C 13: 100,562,694 (GRCm39) T824A probably benign Het
Nav3 T C 10: 109,659,376 (GRCm39) Q747R possibly damaging Het
Or13p4 T A 4: 118,547,271 (GRCm39) Y126F probably damaging Het
Or1j11 A G 2: 36,311,523 (GRCm39) T38A probably damaging Het
Or4c107 A G 2: 88,789,059 (GRCm39) D83G possibly damaging Het
Or51f1 T C 7: 102,506,169 (GRCm39) I107V possibly damaging Het
Or5b120 A G 19: 13,480,067 (GRCm39) D120G probably damaging Het
Or7g22 A C 9: 19,049,021 (GRCm39) H244P probably damaging Het
Pcdhb11 T C 18: 37,555,978 (GRCm39) I436T possibly damaging Het
Pfdn2 T C 1: 171,184,319 (GRCm39) Y65H probably damaging Het
Polr2h T C 16: 20,537,776 (GRCm39) Y58H probably benign Het
Prrt4 G A 6: 29,176,452 (GRCm39) P291L probably benign Het
Psg29 G T 7: 16,944,437 (GRCm39) V316L possibly damaging Het
Rnf112 T A 11: 61,340,555 (GRCm39) E525V probably damaging Het
Sgms1 T C 19: 32,101,773 (GRCm39) K411R probably benign Het
Sh3tc1 T A 5: 35,864,295 (GRCm39) K631* probably null Het
Syne1 T C 10: 5,393,223 (GRCm39) M48V probably benign Het
Thrb C T 14: 18,011,209 (GRCm38) T226I probably damaging Het
Trim67 A T 8: 125,541,843 (GRCm39) D347V probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn G T 2: 76,565,744 (GRCm39) L19876I probably damaging Het
Vars1 C T 17: 35,220,585 (GRCm39) R56C probably damaging Het
Vmn1r9 A G 6: 57,048,239 (GRCm39) I105V probably benign Het
Vps8 C A 16: 21,279,988 (GRCm39) T313K 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
R1203:Or52h2 UTSW 7 103,839,060 (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
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'- CTGGTATATAGAACATGAGGATGACAC -3'
(R):5'- TTGACCGCTATGTGGCCATC -3'

Sequencing Primer
(F):5'- CTTCTGGCGTGCATCTCGG -3'
(R):5'- GCTATGTGGCCATCTGTTCAC -3'
Posted On 2017-06-26