Incidental Mutation 'R6292:Or51v14'
ID 508500
Institutional Source Beutler Lab
Gene Symbol Or51v14
Ensembl Gene ENSMUSG00000045132
Gene Name olfactory receptor family 51 subfamily V member 14
Synonyms MOR4-1, Olfr620, GA_x6K02T2PBJ9-6335095-6334154
MMRRC Submission 044461-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6292 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103260617-103261558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103261386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 58 (H58L)
Ref Sequence ENSEMBL: ENSMUSP00000148869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052152] [ENSMUST00000217603]
AlphaFold E9PZ66
Predicted Effect probably damaging
Transcript: ENSMUST00000052152
AA Change: H58L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000061764
Gene: ENSMUSG00000045132
AA Change: H58L

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.6e-137 PFAM
Pfam:7tm_1 43 294 4.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215752
Predicted Effect probably damaging
Transcript: ENSMUST00000217603
AA Change: H58L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,338,312 (GRCm39) V709E probably damaging Het
Ankrd33b C T 15: 31,325,231 (GRCm39) probably null Het
Apaf1 T C 10: 90,827,425 (GRCm39) T1202A possibly damaging Het
Apip G T 2: 102,922,812 (GRCm39) C210F probably benign Het
Chd9 A T 8: 91,659,550 (GRCm39) H170L probably benign Het
Clec16a T C 16: 10,378,015 (GRCm39) probably null Het
Ep300 T A 15: 81,500,935 (GRCm39) probably benign Het
Etl4 C T 2: 20,748,384 (GRCm39) H39Y probably damaging Het
Gdap1l1 A T 2: 163,293,427 (GRCm39) I218F probably damaging Het
Gm5141 A T 13: 62,922,252 (GRCm39) C306S probably damaging Het
Gm9961 C T 16: 11,748,336 (GRCm39) noncoding transcript Het
Gpr27 C T 6: 99,670,619 (GRCm39) S327L possibly damaging Het
Hectd3 A C 4: 116,856,005 (GRCm39) T435P probably damaging Het
Hs3st1 T A 5: 39,772,133 (GRCm39) Q170L possibly damaging Het
Hykk T C 9: 54,828,110 (GRCm39) probably null Het
Lilra5 T C 7: 4,241,338 (GRCm39) S92P possibly damaging Het
Lrig1 A T 6: 94,593,426 (GRCm39) N418K probably damaging Het
Miga1 A G 3: 152,023,356 (GRCm39) F232L probably benign Het
Mkrn2 T A 6: 115,590,295 (GRCm39) M217K probably damaging Het
Myh7b A T 2: 155,474,316 (GRCm39) Q1677L probably damaging Het
N4bp1 T C 8: 87,579,867 (GRCm39) E645G probably damaging Het
Nckap5 T C 1: 125,842,752 (GRCm39) K1752E probably damaging Het
Nek1 A G 8: 61,507,770 (GRCm39) probably null Het
Ntng1 T C 3: 110,051,202 (GRCm39) probably benign Het
Nup133 A G 8: 124,644,176 (GRCm39) V730A probably benign Het
Or2t44 T A 11: 58,677,063 (GRCm39) M1K probably null Het
Paqr6 C T 3: 88,275,205 (GRCm39) P213S probably damaging Het
Pign A T 1: 105,512,802 (GRCm39) V627D possibly damaging Het
Rasal1 T A 5: 120,797,685 (GRCm39) V139E probably damaging Het
Scgb1b24 G T 7: 33,443,577 (GRCm39) A79S possibly damaging Het
Slc25a28 T C 19: 43,653,031 (GRCm39) D210G probably benign Het
Slc38a3 A T 9: 107,532,353 (GRCm39) I393N possibly damaging Het
Slc41a2 T C 10: 83,090,790 (GRCm39) N465D probably damaging Het
Slc5a5 G A 8: 71,343,822 (GRCm39) T160I probably damaging Het
Smarca2 C T 19: 26,608,292 (GRCm39) A117V probably damaging Het
Sorcs2 C T 5: 36,219,931 (GRCm39) R371H probably damaging Het
Taf4 A G 2: 179,565,780 (GRCm39) S872P probably damaging Het
Tdrd3 G T 14: 87,743,690 (GRCm39) C540F probably benign Het
Thumpd1 A T 7: 119,319,897 (GRCm39) L23Q probably benign Het
Top1 A T 2: 160,540,061 (GRCm39) Y213F probably benign Het
Txndc5 T C 13: 38,712,160 (GRCm39) probably null Het
Unc79 C A 12: 103,108,991 (GRCm39) A2005D possibly damaging Het
Upb1 T C 10: 75,274,005 (GRCm39) L344P probably damaging Het
Vmn1r72 T A 7: 11,403,579 (GRCm39) S290C probably benign Het
Vmn2r103 A G 17: 20,013,866 (GRCm39) I219M possibly damaging Het
Wapl A G 14: 34,451,152 (GRCm39) T729A probably damaging Het
Washc5 C T 15: 59,227,783 (GRCm39) R393H probably damaging Het
Other mutations in Or51v14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02807:Or51v14 APN 7 103,261,198 (GRCm39) missense probably benign 0.34
R0496:Or51v14 UTSW 7 103,261,204 (GRCm39) missense probably benign 0.09
R0834:Or51v14 UTSW 7 103,261,444 (GRCm39) missense probably benign 0.00
R1957:Or51v14 UTSW 7 103,260,618 (GRCm39) makesense probably null
R1958:Or51v14 UTSW 7 103,260,618 (GRCm39) makesense probably null
R2158:Or51v14 UTSW 7 103,261,443 (GRCm39) missense possibly damaging 0.66
R3797:Or51v14 UTSW 7 103,260,654 (GRCm39) missense probably benign 0.37
R5389:Or51v14 UTSW 7 103,260,797 (GRCm39) nonsense probably null
R6374:Or51v14 UTSW 7 103,261,128 (GRCm39) missense probably benign 0.23
R6422:Or51v14 UTSW 7 103,261,221 (GRCm39) missense probably damaging 1.00
R6586:Or51v14 UTSW 7 103,261,183 (GRCm39) missense possibly damaging 0.81
R7234:Or51v14 UTSW 7 103,261,089 (GRCm39) missense probably damaging 0.97
R7393:Or51v14 UTSW 7 103,261,198 (GRCm39) missense possibly damaging 0.90
R7855:Or51v14 UTSW 7 103,260,979 (GRCm39) missense possibly damaging 0.88
R7900:Or51v14 UTSW 7 103,260,900 (GRCm39) missense possibly damaging 0.82
R8159:Or51v14 UTSW 7 103,261,347 (GRCm39) missense possibly damaging 0.63
R8265:Or51v14 UTSW 7 103,261,048 (GRCm39) missense possibly damaging 0.95
R8314:Or51v14 UTSW 7 103,261,254 (GRCm39) missense probably damaging 1.00
R9182:Or51v14 UTSW 7 103,261,063 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- TAGCGGTCAAAGGACATGGC -3'
(R):5'- TCGAGAAAACAGGGTTTCTCC -3'

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