Incidental Mutation 'R3103:Or51h1'
ID 262903
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 040577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R3103 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102308030-102308977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102308688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 220 (V220A)
Ref Sequence ENSEMBL: ENSMUSP00000095823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098220]
AlphaFold E9Q547
Predicted Effect probably benign
Transcript: ENSMUST00000098220
AA Change: V220A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095823
Gene: ENSMUSG00000073970
AA Change: V220A

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: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,310,409 (GRCm39) probably null Het
Adap2 G T 11: 80,047,859 (GRCm39) C105F probably damaging Het
Bace2 T C 16: 97,223,201 (GRCm39) probably null Het
Bpifc A G 10: 85,829,286 (GRCm39) S94P probably damaging Het
C2cd3 A G 7: 100,044,459 (GRCm39) D347G possibly damaging Het
Cad T C 5: 31,219,018 (GRCm39) V613A possibly damaging Het
Ccdc47 T C 11: 106,093,667 (GRCm39) H6R probably benign Het
Celsr3 A G 9: 108,714,338 (GRCm39) T1956A probably benign Het
Cep128 T A 12: 90,986,118 (GRCm39) D1006V probably damaging Het
Cog3 T C 14: 75,984,641 (GRCm39) probably null Het
Csmd1 C T 8: 15,967,405 (GRCm39) V3153M probably damaging Het
Ctnna2 T C 6: 77,630,127 (GRCm39) E122G possibly damaging Het
Cts8 T A 13: 61,398,772 (GRCm39) I245F probably damaging Het
Ddx27 T A 2: 166,868,166 (GRCm39) V333E probably damaging Het
Dmpk A G 7: 18,821,579 (GRCm39) Y279C probably damaging Het
Dpagt1 A G 9: 44,239,292 (GRCm39) I111V probably benign Het
Dvl2 C A 11: 69,899,695 (GRCm39) P546T possibly damaging Het
Fat4 G T 3: 38,946,089 (GRCm39) A1661S probably benign Het
Gcm1 A G 9: 77,971,734 (GRCm39) N225S probably damaging Het
Gcnt2 A T 13: 41,072,082 (GRCm39) M242L probably benign Het
Golgb1 A G 16: 36,715,211 (GRCm39) R226G probably damaging Het
Gpr63 G A 4: 25,007,353 (GRCm39) V26I probably benign Het
Grik2 A G 10: 49,116,868 (GRCm39) L631P probably damaging Het
Hapln3 T C 7: 78,771,484 (GRCm39) D135G probably benign Het
Il31ra C A 13: 112,666,885 (GRCm39) V398F probably damaging Het
Ipp G T 4: 116,381,446 (GRCm39) R315L possibly damaging Het
Kcmf1 A G 6: 72,838,830 (GRCm39) L32P probably damaging Het
Klf17 T A 4: 117,617,805 (GRCm39) Q184L possibly damaging Het
Lrp2 C T 2: 69,262,328 (GRCm39) V4442I probably benign Het
Lrrfip2 A T 9: 111,051,278 (GRCm39) E293D probably damaging Het
Oit3 A G 10: 59,274,713 (GRCm39) I29T probably damaging Het
Or1a1 G A 11: 74,086,901 (GRCm39) D191N probably benign Het
Or1j21 T C 2: 36,683,574 (GRCm39) C109R possibly damaging Het
Plb1 T A 5: 32,485,373 (GRCm39) M842K possibly damaging Het
Ppt1 T C 4: 122,730,100 (GRCm39) C18R probably benign Het
Pstpip2 T C 18: 77,959,477 (GRCm39) Y191H probably damaging Het
Ryr1 C T 7: 28,774,373 (GRCm39) V2361I probably damaging Het
Serpinb11 A G 1: 107,305,338 (GRCm39) N238S probably benign Het
Skor2 A T 18: 76,946,973 (GRCm39) K232* probably null Het
Slc13a5 A T 11: 72,148,214 (GRCm39) W231R probably damaging Het
Svs5 A T 2: 164,175,313 (GRCm39) E55V probably benign Het
Tfcp2 A T 15: 100,423,481 (GRCm39) W142R probably damaging Het
Trpc2 A T 7: 101,744,441 (GRCm39) I738F possibly damaging Het
Vmn2r61 T A 7: 41,916,067 (GRCm39) S227T possibly damaging Het
Zfhx4 A G 3: 5,464,386 (GRCm39) T1540A probably damaging Het
Zfp616 A G 11: 73,962,561 (GRCm39) T74A 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
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
Predicted Primers PCR Primer
(F):5'- AAAACGGCTGCCCTTCTGTC -3'
(R):5'- TGTCTTCACACTGTAGACAATAGGG -3'

Sequencing Primer
(F):5'- GCCCTTCTGTCGTTCCAATG -3'
(R):5'- CACACTGTAGACAATAGGGTTTAGC -3'
Posted On 2015-02-05