Incidental Mutation 'IGL01150:Or51h1'
ID 51674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51h1
Ensembl Gene ENSMUSG00000073970
Gene Name olfactory receptor family 51 subfamily H member 1
Synonyms MOR10-1, GA_x6K02T2PBJ9-5375442-5376389, Olfr555
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL01150
Quality Score
Status
Chromosome 7
Chromosomal Location 102308030-102308977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 102308699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 224 (K224Q)
Ref Sequence ENSEMBL: ENSMUSP00000095823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098220]
AlphaFold E9Q547
Predicted Effect probably benign
Transcript: ENSMUST00000098220
AA Change: K224Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095823
Gene: ENSMUSG00000073970
AA Change: K224Q

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
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,550 (GRCm39) D507G possibly damaging Het
Actl6a A G 3: 32,766,313 (GRCm39) I60V probably benign Het
Adra2c T C 5: 35,438,485 (GRCm39) F419S probably damaging Het
Afap1l2 T C 19: 56,918,618 (GRCm39) Y105C probably damaging Het
Arid4b C T 13: 14,369,959 (GRCm39) Q1152* probably null Het
Arsj A G 3: 126,232,433 (GRCm39) D393G probably benign Het
Avp T C 2: 130,422,593 (GRCm39) probably benign Het
Cacna2d3 C T 14: 28,905,598 (GRCm39) V390I possibly damaging Het
Ccdc25 T A 14: 66,097,651 (GRCm39) M195K possibly damaging Het
Cdhr2 T A 13: 54,878,931 (GRCm39) S979T probably benign Het
Cog2 T C 8: 125,269,630 (GRCm39) F390S possibly damaging Het
Dennd5b A G 6: 148,969,583 (GRCm39) V290A probably benign Het
Ebf1 T C 11: 44,759,927 (GRCm39) L188P probably damaging Het
Galt T C 4: 41,757,786 (GRCm39) probably benign Het
Gm12830 C T 4: 114,702,261 (GRCm39) T141I unknown Het
Herc2 T A 7: 55,830,881 (GRCm39) W2965R probably damaging Het
Hrg A G 16: 22,777,909 (GRCm39) probably null Het
Ighv8-5 T C 12: 115,031,194 (GRCm39) Y115C probably damaging Het
Igkv12-89 A G 6: 68,812,127 (GRCm39) V14A probably benign Het
Nav2 A C 7: 49,102,269 (GRCm39) T295P probably benign Het
Niban1 T C 1: 151,593,472 (GRCm39) V719A probably benign Het
Nrg1 G A 8: 32,407,903 (GRCm39) T110I probably damaging Het
Or4c31 T C 2: 88,292,419 (GRCm39) V264A possibly damaging Het
Or7g29 A T 9: 19,286,535 (GRCm39) I214N probably damaging Het
Pclo T C 5: 14,726,926 (GRCm39) probably benign Het
Polg2 T C 11: 106,668,258 (GRCm39) probably null Het
Ptges G T 2: 30,782,720 (GRCm39) R111S probably damaging Het
Rbbp4 T C 4: 129,216,668 (GRCm39) probably benign Het
Rundc3a T C 11: 102,284,602 (GRCm39) V34A probably benign Het
Scn3a C A 2: 65,327,709 (GRCm39) probably null Het
Sec14l3 T C 11: 4,026,238 (GRCm39) probably benign Het
Strip1 C T 3: 107,534,047 (GRCm39) probably null Het
Svep1 T A 4: 58,070,302 (GRCm39) I2495F probably benign Het
Syne1 A G 10: 5,393,154 (GRCm39) S71P probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem161b C T 13: 84,440,526 (GRCm39) R133* probably null Het
Tnnc2 A T 2: 164,619,753 (GRCm39) I71N probably damaging Het
Vps13d T C 4: 144,875,845 (GRCm39) N1554S probably benign Het
Wfdc3 A T 2: 164,574,123 (GRCm39) probably benign Het
Zfp648 A T 1: 154,081,110 (GRCm39) H423L probably damaging Het
Other mutations in Or51h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Or51h1 APN 7 102,308,555 (GRCm39) missense probably damaging 0.98
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
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
Posted On 2013-06-21