Incidental Mutation 'R0022:Or4f53'
ID 64781
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 038317-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R0022 (G1)
Quality Score 203
Status Validated
Chromosome 2
Chromosomal Location 111087462-111088400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111087994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 178 (Y178C)
Ref Sequence ENSEMBL: ENSMUSP00000151987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073322] [ENSMUST00000218065]
AlphaFold Q8VF40
Predicted Effect probably benign
Transcript: ENSMUST00000073322
AA Change: Y178C

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000073046
Gene: ENSMUSG00000063844
AA Change: Y178C

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 probably benign
Transcript: ENSMUST00000218065
AA Change: Y178C

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.8%
Validation Efficiency 100% (68/68)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,587,485 (GRCm39) probably null Het
Arhgap29 G A 3: 121,782,586 (GRCm39) V91I possibly damaging Het
Aste1 T A 9: 105,273,823 (GRCm39) L21* probably null Het
Bpifb5 A T 2: 154,072,268 (GRCm39) D325V probably damaging Het
Btbd10 G A 7: 112,924,988 (GRCm39) Q287* probably null Het
Cdc20 T A 4: 118,292,686 (GRCm39) H354L probably damaging Het
Cdhr3 G A 12: 33,132,263 (GRCm39) T120I probably damaging Het
Col5a2 G A 1: 45,422,843 (GRCm39) R1125* probably null Het
Col9a3 A G 2: 180,261,549 (GRCm39) D613G probably damaging Het
Coro7 C T 16: 4,451,168 (GRCm39) R507H probably benign Het
Cracdl C T 1: 37,667,326 (GRCm39) R240Q probably damaging Het
Crebbp A T 16: 3,903,092 (GRCm39) V2049E probably damaging Het
Cryga T C 1: 65,142,382 (GRCm39) I4V probably damaging Het
D930020B18Rik A G 10: 121,507,675 (GRCm39) T138A probably damaging Het
Dclre1b G T 3: 103,710,464 (GRCm39) H482Q probably benign Het
Dpy19l2 A G 9: 24,607,420 (GRCm39) S14P probably benign Het
Elavl3 C A 9: 21,948,167 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,503 (GRCm39) V220A probably damaging Het
Exoc7 A T 11: 116,188,408 (GRCm39) I297N possibly damaging Het
Gdpd4 A T 7: 97,632,082 (GRCm39) N332Y probably damaging Het
Ggct C A 6: 54,962,887 (GRCm39) E175* probably null Het
Gm5316 T C 6: 122,877,354 (GRCm39) noncoding transcript Het
Hoxa7 T C 6: 52,194,363 (GRCm39) N8S probably damaging Het
Ifi208 A G 1: 173,510,612 (GRCm39) T256A possibly damaging Het
Il12rb2 A G 6: 67,275,903 (GRCm39) F630S probably damaging Het
Kit A G 5: 75,783,657 (GRCm39) N378S probably benign Het
Lmntd1 T A 6: 145,375,716 (GRCm39) Y74F probably benign Het
Lrp1b A T 2: 40,888,050 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,671,355 (GRCm39) V1194D probably damaging Het
Mc5r T G 18: 68,471,853 (GRCm39) S71A probably benign Het
Mcm7 T C 5: 138,162,981 (GRCm39) *390W probably null Het
Myo18a T C 11: 77,734,059 (GRCm39) probably null Het
Naa25 C A 5: 121,556,039 (GRCm39) L276M probably damaging Het
Nlrp1a T G 11: 71,014,207 (GRCm39) T348P probably damaging Het
Nlrp1b T G 11: 71,052,755 (GRCm39) K888T possibly damaging Het
Pabpc6 A T 17: 9,888,145 (GRCm39) N135K probably benign Het
Pdzd2 G A 15: 12,371,691 (GRCm39) A2568V possibly damaging Het
Pik3r2 A G 8: 71,223,545 (GRCm39) F346S probably damaging Het
Pkd1 T C 17: 24,813,793 (GRCm39) W4086R probably damaging Het
Plekhb2 G A 1: 34,905,320 (GRCm39) probably benign Het
Plxnb2 A G 15: 89,047,479 (GRCm39) probably null Het
Pmfbp1 C T 8: 110,252,039 (GRCm39) R395W probably damaging Het
Pnldc1 A G 17: 13,109,006 (GRCm39) Y497H probably damaging Het
Ppp1ca T G 19: 4,244,580 (GRCm39) V213G possibly damaging Het
Rapgef2 G A 3: 78,995,207 (GRCm39) R814C probably damaging Het
Relch T A 1: 105,619,627 (GRCm39) probably benign Het
Rnasel A T 1: 153,636,521 (GRCm39) I634F probably damaging Het
Rnf157 A T 11: 116,240,276 (GRCm39) probably benign Het
Ryr3 A G 2: 112,471,011 (GRCm39) S4567P probably damaging Het
Smcr8 T A 11: 60,671,185 (GRCm39) W778R probably damaging Het
Stat1 T A 1: 52,179,789 (GRCm39) L333Q probably damaging Het
Strc A G 2: 121,198,874 (GRCm39) L1391P probably damaging Het
Tek G A 4: 94,725,509 (GRCm39) V592M probably damaging Het
Top1 A C 2: 160,544,719 (GRCm39) K278N possibly damaging Het
Utrn C T 10: 12,585,700 (GRCm39) probably benign Het
Wdr7 T C 18: 63,910,705 (GRCm39) I699T probably damaging Het
Zfp30 A G 7: 29,491,860 (GRCm39) E119G possibly damaging 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
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
R5165:Or4f53 UTSW 2 111,087,568 (GRCm39) missense possibly damaging 0.83
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'- TGACCTGTCCTCTGGGCATAATACC -3'
(R):5'- GGCAAGGAACTTATCCACTGGCAC -3'

Sequencing Primer
(F):5'- TGGGCATAATACCATCTCATTCCAG -3'
(R):5'- TGTACACGAAGATGCATGGTCC -3'
Posted On 2013-08-06