Incidental Mutation 'R6282:Or51h1'
ID 507996
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 044452-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R6282 (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 102308854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 275 (M275I)
Ref Sequence ENSEMBL: ENSMUSP00000095823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098220]
AlphaFold E9Q547
Predicted Effect probably benign
Transcript: ENSMUST00000098220
AA Change: M275I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095823
Gene: ENSMUSG00000073970
AA Change: M275I

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,690,781 (GRCm39) L185Q possibly damaging Het
Abca6 A T 11: 110,099,650 (GRCm39) C966S probably damaging Het
Atp13a4 A T 16: 29,252,822 (GRCm39) I708N probably benign Het
Axin1 C G 17: 26,362,011 (GRCm39) D118E probably damaging Het
Bace2 A T 16: 97,216,297 (GRCm39) I297F probably damaging Het
Ccdc30 T A 4: 119,181,214 (GRCm39) D649V probably damaging Het
Cd180 G A 13: 102,830,265 (GRCm39) A20T possibly damaging Het
Cdk18 T C 1: 132,047,758 (GRCm39) D112G probably damaging Het
Cuedc1 A G 11: 88,074,228 (GRCm39) N254S probably damaging Het
Dnah7a T C 1: 53,542,760 (GRCm39) H2470R probably damaging Het
Drap1 G A 19: 5,474,464 (GRCm39) probably null Het
Fbxo5 T A 10: 5,751,216 (GRCm39) K257M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm12790 A G 4: 101,824,713 (GRCm39) V185A possibly damaging Het
Gm7361 A G 5: 26,465,411 (GRCm39) N136S probably benign Het
Il10ra C A 9: 45,171,703 (GRCm39) C255F probably damaging Het
Insyn2b A G 11: 34,352,819 (GRCm39) D287G possibly damaging Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Ktn1 A T 14: 47,901,428 (GRCm39) N62I probably damaging Het
Ldb2 A G 5: 44,690,007 (GRCm39) L204P probably damaging Het
Map2k4 T C 11: 65,597,842 (GRCm39) T90A possibly damaging Het
Mettl3 A T 14: 52,535,428 (GRCm39) D287E probably benign Het
Mier2 A G 10: 79,380,576 (GRCm39) F278S probably damaging Het
Mis18bp1 A G 12: 65,195,937 (GRCm39) M609T probably benign Het
Myo1d A T 11: 80,448,338 (GRCm39) V929D probably damaging Het
Naprt A T 15: 75,763,828 (GRCm39) M364K probably benign Het
Nod2 T A 8: 89,397,088 (GRCm39) C833S probably benign Het
Nrip3 C T 7: 109,362,686 (GRCm39) probably null Het
Ntsr2 A G 12: 16,708,426 (GRCm39) Y320C probably damaging Het
Or14j8 G A 17: 38,263,315 (GRCm39) S200F possibly damaging Het
Or4p7 C A 2: 88,221,877 (GRCm39) C95* probably null Het
Osbpl3 A T 6: 50,325,063 (GRCm39) probably null Het
Pcdhb3 C T 18: 37,434,699 (GRCm39) R222C probably damaging Het
Pik3cd G T 4: 149,744,200 (GRCm39) R184S probably benign Het
Pramel32 T C 4: 88,548,291 (GRCm39) E38G probably damaging Het
Rad50 A T 11: 53,560,597 (GRCm39) probably null Het
Rad51ap2 A T 12: 11,507,560 (GRCm39) H494L probably benign Het
Rbm25 T C 12: 83,722,863 (GRCm39) M762T probably damaging Het
Sars1 G T 3: 108,335,590 (GRCm39) S338* probably null Het
Usp35 T C 7: 96,975,155 (GRCm39) E6G probably damaging Het
Vash2 T C 1: 190,692,422 (GRCm39) Y251C probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr20 T A 12: 110,763,443 (GRCm39) probably benign Het
Wfdc1 G A 8: 120,406,146 (GRCm39) C87Y probably damaging Het
Zfp985 T A 4: 147,667,805 (GRCm39) H224Q probably benign 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
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
R8440:Or51h1 UTSW 7 102,308,275 (GRCm39) missense probably damaging 0.98
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'- TCACATTAGGGCTCGATGC -3'
(R):5'- TTCACCAAAACTTCTGAATGGG -3'

Sequencing Primer
(F):5'- GGGCTCGATGCTCTCATC -3'
(R):5'- GGGAAACTATTGGATTTTTCCACCTC -3'
Posted On 2018-03-15