Incidental Mutation 'R8440:Or51h1'
ID 660388
Institutional Source Beutler Lab
Gene Symbol Or51h1
Ensembl Gene ENSMUSG00000073970
Gene Name olfactory receptor family 51 subfamily H member 1
Synonyms MOR10-1, GA_x6K02T2PBJ9-5375442-5376389, Olfr555
MMRRC Submission 067884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R8440 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102308030-102308977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102308275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 82 (M82I)
Ref Sequence ENSEMBL: ENSMUSP00000095823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098220]
AlphaFold E9Q547
Predicted Effect probably damaging
Transcript: ENSMUST00000098220
AA Change: M82I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095823
Gene: ENSMUSG00000073970
AA Change: M82I

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 2.5e-126 PFAM
Pfam:7TM_GPCR_Srsx 36 308 1.7e-7 PFAM
Pfam:7tm_1 42 293 1.2e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (38/39)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak5 G C 3: 152,209,680 (GRCm39) probably null Het
Bbs9 T A 9: 22,479,046 (GRCm39) V163E probably damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cbr3 T C 16: 93,480,421 (GRCm39) I70T probably damaging Het
Chka T C 19: 3,943,375 (GRCm39) Y426H probably damaging Het
Cpq T A 15: 33,213,341 (GRCm39) M120K possibly damaging Het
Dcaf1 T A 9: 106,725,073 (GRCm39) C520S possibly damaging Het
Egfr T C 11: 16,859,831 (GRCm39) Y1018H probably damaging Het
Eif3l T C 15: 78,961,120 (GRCm39) Y58H possibly damaging Het
Frmd8 T C 19: 5,915,202 (GRCm39) Y234C possibly damaging Het
Fus T C 7: 127,568,998 (GRCm39) Y50H unknown Het
Hmcn1 T A 1: 150,570,671 (GRCm39) Q2164L probably damaging Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hsd11b1 T C 1: 192,904,420 (GRCm39) K260E probably benign Het
Igkv4-91 C T 6: 68,745,556 (GRCm39) G114D probably benign Het
Inpp4b G A 8: 82,768,524 (GRCm39) E678K probably damaging Het
Kifc3 G T 8: 95,836,422 (GRCm39) P113Q possibly damaging Het
Lgi4 T A 7: 30,760,049 (GRCm39) probably null Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Meiob G T 17: 25,037,302 (GRCm39) C60F probably benign Het
Nedd4l G T 18: 65,022,126 (GRCm39) probably null Het
Omp A G 7: 97,794,253 (GRCm39) F125L probably damaging Het
Or1ad6 T C 11: 50,860,024 (GRCm39) Y60H probably damaging Het
Or5a1 C T 19: 12,097,308 (GRCm39) C244Y probably damaging Het
Pcdha3 T C 18: 37,080,914 (GRCm39) V552A probably damaging Het
Plek T C 11: 16,945,276 (GRCm39) D18G possibly damaging Het
Ppip5k2 T C 1: 97,675,276 (GRCm39) T376A probably damaging Het
Prkdc CAAA CAAAA 16: 15,653,022 (GRCm39) 3833 probably null Het
Rabgap1 T C 2: 37,432,692 (GRCm39) probably null Het
Rtn1 T A 12: 72,270,173 (GRCm39) I113F probably damaging Het
Ssu2 T A 6: 112,364,950 (GRCm39) D4V probably benign Het
St6galnac2 T C 11: 116,568,374 (GRCm39) H363R probably damaging Het
Stk19 T C 17: 35,055,456 (GRCm39) S60G possibly damaging Het
Suco G A 1: 161,679,907 (GRCm39) T332I probably damaging Het
Trbv20 T A 6: 41,165,892 (GRCm39) Y106N probably damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn1r128 G A 7: 21,083,745 (GRCm39) V150I probably benign Het
Vmn2r54 A T 7: 12,350,013 (GRCm39) V523E possibly damaging Het
Vmn2r61 A T 7: 41,916,080 (GRCm39) E231V probably benign Het
Xkr9 A G 1: 13,771,603 (GRCm39) D373G probably benign Het
Zfp592 G C 7: 80,691,271 (GRCm39) S1150T possibly damaging Het
Other mutations in Or51h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Or51h1 APN 7 102,308,555 (GRCm39) missense probably damaging 0.98
IGL01150:Or51h1 APN 7 102,308,699 (GRCm39) missense probably benign 0.00
IGL02610:Or51h1 APN 7 102,308,774 (GRCm39) missense probably benign 0.41
IGL02679:Or51h1 APN 7 102,308,384 (GRCm39) missense possibly damaging 0.55
R0332:Or51h1 UTSW 7 102,308,672 (GRCm39) missense probably damaging 0.99
R1493:Or51h1 UTSW 7 102,308,220 (GRCm39) missense probably damaging 1.00
R1631:Or51h1 UTSW 7 102,308,408 (GRCm39) missense probably damaging 1.00
R1682:Or51h1 UTSW 7 102,308,904 (GRCm39) missense probably damaging 0.96
R3026:Or51h1 UTSW 7 102,308,336 (GRCm39) missense possibly damaging 0.90
R3103:Or51h1 UTSW 7 102,308,688 (GRCm39) missense probably benign 0.00
R4592:Or51h1 UTSW 7 102,308,685 (GRCm39) missense probably damaging 0.99
R4782:Or51h1 UTSW 7 102,308,041 (GRCm39) missense possibly damaging 0.63
R6282:Or51h1 UTSW 7 102,308,854 (GRCm39) missense probably benign 0.00
R7571:Or51h1 UTSW 7 102,308,258 (GRCm39) missense probably damaging 1.00
R8001:Or51h1 UTSW 7 102,308,241 (GRCm39) missense probably damaging 1.00
R9087:Or51h1 UTSW 7 102,308,964 (GRCm39) missense probably benign
R9182:Or51h1 UTSW 7 102,308,927 (GRCm39) missense probably damaging 0.98
R9336:Or51h1 UTSW 7 102,308,199 (GRCm39) missense probably damaging 0.97
R9710:Or51h1 UTSW 7 102,308,441 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCATAGCTTCATTCTGACAGGC -3'
(R):5'- TCCAATAAGCCCATGAGTAAGG -3'

Sequencing Primer
(F):5'- TCATTCTGACAGGCATCCCAGG -3'
(R):5'- CCCATGAGTAAGGATGGAAGCATAAC -3'
Posted On 2021-01-18