Incidental Mutation 'R5165:Or4f53'
ID 395635
Institutional Source Beutler Lab
Gene Symbol Or4f53
Ensembl Gene ENSMUSG00000063844
Gene Name olfactory receptor family 4 subfamily F member 53
Synonyms MOR245-10, GA_x6K02T2Q125-72308574-72309512, Olfr1276
MMRRC Submission 042746-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R5165 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111087462-111088400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111087568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 36 (V36E)
Ref Sequence ENSEMBL: ENSMUSP00000151987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073322] [ENSMUST00000218065]
AlphaFold Q8VF40
Predicted Effect possibly damaging
Transcript: ENSMUST00000073322
AA Change: V36E

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073046
Gene: ENSMUSG00000063844
AA Change: V36E

DomainStartEndE-ValueType
Pfam:7tm_4 30 304 9.7e-40 PFAM
Pfam:7tm_1 41 287 4.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213658
Predicted Effect possibly damaging
Transcript: ENSMUST00000218065
AA Change: V36E

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 T A 6: 83,503,814 (GRCm39) I77F probably benign Het
Actl6a G A 3: 32,774,357 (GRCm39) V285I probably benign Het
Adam9 A T 8: 25,457,190 (GRCm39) I646N possibly damaging Het
Ahnak T C 19: 8,993,029 (GRCm39) I4771T possibly damaging Het
Alas1 T C 9: 106,118,454 (GRCm39) T223A probably damaging Het
Apc2 A G 10: 80,151,684 (GRCm39) E2246G probably damaging Het
Atp1a1 A G 3: 101,489,105 (GRCm39) I795T probably benign Het
Ccn3 A G 15: 54,612,585 (GRCm39) D198G probably damaging Het
Cdhr4 T C 9: 107,874,829 (GRCm39) L633P probably damaging Het
Cep350 A G 1: 155,804,114 (GRCm39) S990P probably damaging Het
Cplx2 A G 13: 54,526,789 (GRCm39) I66V possibly damaging Het
Cx3cl1 T C 8: 95,506,504 (GRCm39) S170P probably benign Het
Cyth1 T C 11: 118,059,908 (GRCm39) N353S possibly damaging Het
Dapp1 T C 3: 137,644,976 (GRCm39) probably null Het
Dmwd G A 7: 18,811,960 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,080 (GRCm39) H516R probably damaging Het
Efemp2 T C 19: 5,525,439 (GRCm39) C39R probably damaging Het
Fnbp4 C G 2: 90,608,001 (GRCm39) Q908E possibly damaging Het
Foxred2 A G 15: 77,840,212 (GRCm39) V26A probably damaging Het
Gkap1 A G 13: 58,411,010 (GRCm39) probably null Het
Gstcd A C 3: 132,790,440 (GRCm39) V109G probably damaging Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcnj9 A T 1: 172,150,724 (GRCm39) D296E probably benign Het
Kctd18 T C 1: 57,998,395 (GRCm39) Y68C probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Lrfn5 T C 12: 61,886,410 (GRCm39) I66T possibly damaging Het
Lrp12 A G 15: 39,735,857 (GRCm39) S692P probably benign Het
Lrrc10 A T 10: 116,881,965 (GRCm39) N213I probably benign Het
Nceh1 G A 3: 27,295,677 (GRCm39) V313I probably benign Het
Nkx6-3 T A 8: 23,643,759 (GRCm39) H53Q probably damaging Het
Ntmt2 A G 1: 163,550,092 (GRCm39) I53T probably benign Het
Or14j7 A G 17: 38,235,252 (GRCm39) D265G probably benign Het
Or2y16 A G 11: 49,335,203 (GRCm39) H175R probably damaging Het
Or5b97 A T 19: 12,878,564 (GRCm39) N193K probably benign Het
Oxct1 A T 15: 4,083,251 (GRCm39) T157S possibly damaging Het
Pcdhga3 A G 18: 37,808,723 (GRCm39) E392G possibly damaging Het
Polr1a T G 6: 71,944,909 (GRCm39) Y1322D probably damaging Het
Prkdc T A 16: 15,496,136 (GRCm39) S776T probably damaging Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Sertad4 A T 1: 192,529,130 (GRCm39) S229T possibly damaging Het
Shank2 T A 7: 143,963,373 (GRCm39) V327D possibly damaging Het
Skint6 A T 4: 112,722,865 (GRCm39) V904E possibly damaging Het
Slfn8 A T 11: 82,907,953 (GRCm39) Y197N probably damaging Het
Smo T A 6: 29,736,077 (GRCm39) L23Q unknown Het
Snx29 T A 16: 11,238,639 (GRCm39) M23K probably damaging Het
Synrg T C 11: 83,881,761 (GRCm39) S366P probably benign Het
Tomm40 A G 7: 19,447,592 (GRCm39) probably null Het
Tpcn1 T C 5: 120,696,010 (GRCm39) E81G probably damaging Het
Trappc1 A G 11: 69,215,060 (GRCm39) Q26R probably benign Het
Ttn T A 2: 76,606,900 (GRCm39) probably null Het
Usp25 T A 16: 76,873,293 (GRCm39) D450E possibly damaging Het
Zmynd19 T A 2: 24,848,201 (GRCm39) Y132* probably null Het
Other mutations in Or4f53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02339:Or4f53 APN 2 111,087,588 (GRCm39) missense probably benign 0.00
IGL03298:Or4f53 APN 2 111,087,879 (GRCm39) missense probably benign
R0022:Or4f53 UTSW 2 111,087,994 (GRCm39) missense probably benign 0.30
R0254:Or4f53 UTSW 2 111,087,466 (GRCm39) missense probably benign 0.13
R3903:Or4f53 UTSW 2 111,088,114 (GRCm39) missense probably damaging 1.00
R4801:Or4f53 UTSW 2 111,087,497 (GRCm39) missense probably damaging 1.00
R4802:Or4f53 UTSW 2 111,087,497 (GRCm39) missense probably damaging 1.00
R5341:Or4f53 UTSW 2 111,087,982 (GRCm39) missense probably damaging 1.00
R5619:Or4f53 UTSW 2 111,087,856 (GRCm39) missense probably damaging 1.00
R7761:Or4f53 UTSW 2 111,087,519 (GRCm39) missense possibly damaging 0.93
R8181:Or4f53 UTSW 2 111,087,918 (GRCm39) missense probably benign
R9456:Or4f53 UTSW 2 111,088,348 (GRCm39) missense probably benign 0.00
R9571:Or4f53 UTSW 2 111,088,083 (GRCm39) missense probably benign 0.38
R9761:Or4f53 UTSW 2 111,087,607 (GRCm39) missense possibly damaging 0.63
R9761:Or4f53 UTSW 2 111,087,606 (GRCm39) missense probably benign 0.00
Z1088:Or4f53 UTSW 2 111,088,204 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CAAGGGCTTTGCTAATTGAGGG -3'
(R):5'- TGAGATGGTATTATGCCCAGAG -3'

Sequencing Primer
(F):5'- GTAAGCACCTACTCCTTTTGAAC -3'
(R):5'- TATTATGCCCAGAGGACAGGTC -3'
Posted On 2016-06-21