Incidental Mutation 'R3903:Or4f53'
ID 309256
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 040907-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R3903 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111087462-111088400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111088114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 218 (Y218F)
Ref Sequence ENSEMBL: ENSMUSP00000151987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073322] [ENSMUST00000218065]
AlphaFold Q8VF40
Predicted Effect probably damaging
Transcript: ENSMUST00000073322
AA Change: Y218F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073046
Gene: ENSMUSG00000063844
AA Change: Y218F

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 damaging
Transcript: ENSMUST00000218065
AA Change: Y218F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amd1 C T 10: 40,166,453 (GRCm39) R210H probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Ap3m1 T C 14: 21,086,732 (GRCm39) Y185C probably null Het
Calcrl T A 2: 84,198,986 (GRCm39) probably benign Het
Ccdc178 C T 18: 22,156,152 (GRCm39) V573I possibly damaging Het
Cdh6 T C 15: 13,042,661 (GRCm39) K499R probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Cyp4f40 C A 17: 32,878,598 (GRCm39) R47S possibly damaging Het
Eif4a2 AG A 16: 22,929,390 (GRCm39) probably null Het
Fsip2l T C X: 47,930,421 (GRCm39) N649S possibly damaging Het
Gm8180 T A 14: 44,021,092 (GRCm39) R39W probably null Het
Golm1 T C 13: 59,786,154 (GRCm39) Q346R probably damaging Het
Grap T G 11: 61,551,151 (GRCm39) probably null Het
Hormad2 A G 11: 4,377,237 (GRCm39) probably benign Het
Hyal1 T C 9: 107,456,171 (GRCm39) probably null Het
Kif12 A G 4: 63,086,213 (GRCm39) V378A possibly damaging Het
Lrrk2 G A 15: 91,631,904 (GRCm39) S1276N probably damaging Het
Lrrk2 A T 15: 91,631,903 (GRCm39) S1276C probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or7c70 T G 10: 78,683,132 (GRCm39) I206L probably benign Het
Or8c20 C T 9: 38,260,954 (GRCm39) Q186* probably null Het
Pabpc6 T C 17: 9,888,083 (GRCm39) E156G probably benign Het
Rorb A G 19: 18,939,463 (GRCm39) Y155H probably damaging Het
Samd9l T A 6: 3,376,830 (GRCm39) K144* probably null Het
Scn1a A G 2: 66,148,476 (GRCm39) I3T probably benign Het
Serpinb9 T C 13: 33,194,793 (GRCm39) M183T possibly damaging Het
Wnk1 A G 6: 119,926,012 (GRCm39) S1151P probably damaging Het
Xirp2 C T 2: 67,338,380 (GRCm39) T207I probably benign Het
Zfp39 T C 11: 58,781,001 (GRCm39) Y587C probably benign 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
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'- AGTGGCCCAACTAGGTTTTG -3'
(R):5'- TCAGCGTGTAAATGGCAGG -3'

Sequencing Primer
(F):5'- GGCCCAACTAGGTTTTGTTGTCC -3'
(R):5'- TCAGGATGGGTGTAATCATGAAGTCC -3'
Posted On 2015-04-17