Incidental Mutation 'R9456:Or4f53'
ID 714571
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R9456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 111087462-111088400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111088348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 296 (V296A)
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: V296A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073046
Gene: ENSMUSG00000063844
AA Change: V296A

DomainStartEndE-ValueType
Pfam:7tm_4 30 304 9.7e-40 PFAM
Pfam:7tm_1 41 287 4.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218065
AA Change: V296A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T C 18: 10,645,121 (GRCm39) D391G probably benign Het
Arhgdia A C 11: 120,470,068 (GRCm39) W202G probably damaging Het
Atp2a3 A T 11: 72,871,131 (GRCm39) D575V probably benign Het
Cep350 C A 1: 155,744,457 (GRCm39) V2121L probably benign Het
Clcn2 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 20,534,702 (GRCm39) probably benign Het
Cldn9 A T 17: 23,902,556 (GRCm39) V23E probably damaging Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Cmbl A G 15: 31,589,948 (GRCm39) D226G probably damaging Het
Dennd4b C T 3: 90,178,515 (GRCm39) T537I probably damaging Het
Dnah7b C A 1: 46,165,953 (GRCm39) D539E possibly damaging Het
Fam219a T C 4: 41,521,871 (GRCm39) T70A probably damaging Het
Fat4 T A 3: 38,942,571 (GRCm39) V488E possibly damaging Het
Gm3336 A G 8: 71,174,740 (GRCm39) *96W probably null Het
Hectd1 A G 12: 51,832,584 (GRCm39) I930T probably benign Het
Hmcn1 A T 1: 150,506,053 (GRCm39) C3824* probably null Het
Ift140 T C 17: 25,254,758 (GRCm39) F413L probably benign Het
Itfg1 A G 8: 86,565,566 (GRCm39) V90A probably benign Het
Jph4 A T 14: 55,351,090 (GRCm39) W309R probably damaging Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Klhl5 T C 5: 65,305,939 (GRCm39) F302S probably damaging Het
Klk1b8 T C 7: 43,453,177 (GRCm39) M256T probably benign Het
Klre1 A T 6: 129,559,368 (GRCm39) R99S probably benign Het
Krt79 T C 15: 101,839,904 (GRCm39) T364A probably benign Het
Lin7a C T 10: 107,218,483 (GRCm39) P131L possibly damaging Het
Lrrc49 A G 9: 60,594,699 (GRCm39) Y9H probably benign Het
Lrrc8a T A 2: 30,145,663 (GRCm39) I159N probably damaging Het
Mdga2 T C 12: 66,615,532 (GRCm39) S692G probably benign Het
Myo15a G A 11: 60,392,668 (GRCm39) V1017M Het
Nol4 T C 18: 23,172,897 (GRCm39) D68G probably benign Het
Or6c75 T C 10: 129,337,515 (GRCm39) V254A probably damaging Het
Pigw C A 11: 84,768,040 (GRCm39) A430S probably benign Het
Pla2g4c T C 7: 13,077,900 (GRCm39) L356P probably damaging Het
Prorp T C 12: 55,385,015 (GRCm39) V410A probably damaging Het
Prr5 A G 15: 84,585,682 (GRCm39) T226A probably benign Het
Pygo1 C T 9: 72,833,056 (GRCm39) probably benign Het
Rnf214 A G 9: 45,779,286 (GRCm39) I333T possibly damaging Het
Septin3 A G 15: 82,167,352 (GRCm39) I86V probably benign Het
Slc30a3 AGGGCTTACCTGAGCGG AGG 5: 31,246,889 (GRCm39) probably null Het
Socs5 C A 17: 87,442,266 (GRCm39) T402K probably damaging Het
Speer3 T A 5: 13,846,368 (GRCm39) N229K Het
Stk16 T C 1: 75,187,804 (GRCm39) probably benign Het
Taar7d T A 10: 23,903,287 (GRCm39) F56L probably benign Het
Tmprss2 C T 16: 97,392,669 (GRCm39) V93I probably benign Het
Tnpo2 G A 8: 85,774,015 (GRCm39) E350K probably benign Het
Tor1aip2 C T 1: 155,937,525 (GRCm39) P87S possibly damaging Het
Trgv7 A T 13: 19,362,385 (GRCm39) R25* probably null Het
Ush2a A G 1: 188,558,589 (GRCm39) E3606G probably benign Het
Zeb1 C T 18: 5,766,709 (GRCm39) Q407* probably null Het
Zfp609 A G 9: 65,611,125 (GRCm39) S613P Het
Zfp735 A G 11: 73,602,403 (GRCm39) N449S 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
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
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
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'- TTGTCCAAGGCCCTCTCAAC -3'
(R):5'- CACACCTTCATACAATGTGGGG -3'

Sequencing Primer
(F):5'- AAGGCCCTCTCAACACTTTCTG -3'
(R):5'- GCTCCAGTTTCAGAGGAACTG -3'
Posted On 2022-06-15