Incidental Mutation 'R6539:Or4c101'
ID 520568
Institutional Source Beutler Lab
Gene Symbol Or4c101
Ensembl Gene ENSMUSG00000068809
Gene Name olfactory receptor family 4 subfamily C member 101
Synonyms MOR238-2, Olfr1188, GA_x6K02T2Q125-50046879-50047784
MMRRC Submission 044665-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R6539 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88389795-88390762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88389864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 6 (F6S)
Ref Sequence ENSEMBL: ENSMUSP00000150850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090701] [ENSMUST00000217131]
AlphaFold A2AV10
Predicted Effect probably damaging
Transcript: ENSMUST00000090701
AA Change: F17S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088202
Gene: ENSMUSG00000068809
AA Change: F17S

DomainStartEndE-ValueType
Pfam:7tm_4 36 309 5.9e-49 PFAM
Pfam:7tm_1 46 292 1.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217131
AA Change: F6S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G A 8: 25,272,616 (GRCm39) A513V possibly damaging Het
Ano8 T C 8: 71,937,127 (GRCm39) D147G probably damaging Het
Apba1 A G 19: 23,913,924 (GRCm39) D649G probably damaging Het
Atp6v0d1 T C 8: 106,251,606 (GRCm39) I329V probably benign Het
Card6 T A 15: 5,134,873 (GRCm39) N110I probably damaging Het
Cfap410 A G 10: 77,820,322 (GRCm39) T231A probably benign Het
Chn2 T A 6: 54,150,446 (GRCm39) probably null Het
Cyp46a1 G A 12: 108,319,416 (GRCm39) probably null Het
Daam2 T A 17: 49,776,739 (GRCm39) H782L probably damaging Het
Defa26 A G 8: 22,108,262 (GRCm39) I22V possibly damaging Het
Dlk1 A G 12: 109,426,245 (GRCm39) M278V probably benign Het
Dync2h1 T C 9: 7,159,478 (GRCm39) probably null Het
Ehmt1 T A 2: 24,694,779 (GRCm39) H1056L probably damaging Het
Ephb3 G A 16: 21,040,218 (GRCm39) D527N probably benign Het
Flt1 T C 5: 147,515,186 (GRCm39) K1079E probably benign Het
Fndc3b C T 3: 27,592,206 (GRCm39) G231R probably benign Het
Gm4924 T A 10: 82,214,358 (GRCm39) probably benign Het
Ifrd1 G A 12: 40,253,434 (GRCm39) A426V probably damaging Het
Ift140 T C 17: 25,313,643 (GRCm39) L1358P possibly damaging Het
Igkv5-37 A T 6: 69,940,800 (GRCm39) S16T probably benign Het
Map3k9 A G 12: 81,778,966 (GRCm39) L449P probably damaging Het
Mdm1 T C 10: 117,986,863 (GRCm39) probably null Het
Mmrn1 A T 6: 60,964,168 (GRCm39) T1056S probably benign Het
Mroh2b C T 15: 4,935,056 (GRCm39) H164Y probably damaging Het
Muc16 T C 9: 18,548,621 (GRCm39) T5891A probably benign Het
Nagpa T C 16: 5,021,565 (GRCm39) E62G possibly damaging Het
Nek10 T A 14: 14,860,789 (GRCm38) V475D possibly damaging Het
Or5ac15 A C 16: 58,940,114 (GRCm39) S106R probably damaging Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Parvg T A 15: 84,225,541 (GRCm39) D349E probably damaging Het
Pitpna A G 11: 75,489,127 (GRCm39) Y58C probably damaging Het
Ppp4r3b T A 11: 29,168,503 (GRCm39) D73E probably benign Het
Preb A G 5: 31,113,420 (GRCm39) V338A probably benign Het
Sec23a T C 12: 59,031,998 (GRCm39) T411A probably benign Het
Smc6 A G 12: 11,347,011 (GRCm39) probably null Het
Stxbp5l A G 16: 36,950,177 (GRCm39) M1056T probably damaging Het
Tbcd T A 11: 121,447,813 (GRCm39) probably null Het
Tent5a T C 9: 85,208,614 (GRCm39) I70V possibly damaging Het
Tpx2 G T 2: 152,718,518 (GRCm39) E174* probably null Het
Trpc4ap G T 2: 155,478,178 (GRCm39) P663T probably benign Het
Unc5cl G A 17: 48,772,045 (GRCm39) G441D probably damaging Het
Xrcc2 G T 5: 25,897,530 (GRCm39) R140S probably benign Het
Zfc3h1 G A 10: 115,247,907 (GRCm39) E1037K probably benign Het
Zfhx4 A T 3: 5,309,168 (GRCm39) Q798L probably damaging Het
Zfp94 G A 7: 24,002,716 (GRCm39) T236M probably damaging Het
Other mutations in Or4c101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Or4c101 APN 2 88,390,409 (GRCm39) missense probably benign 0.02
R1525:Or4c101 UTSW 2 88,389,985 (GRCm39) missense probably damaging 1.00
R1530:Or4c101 UTSW 2 88,389,827 (GRCm39) missense probably benign 0.23
R1703:Or4c101 UTSW 2 88,390,599 (GRCm39) missense possibly damaging 0.56
R1750:Or4c101 UTSW 2 88,390,402 (GRCm39) missense possibly damaging 0.94
R4626:Or4c101 UTSW 2 88,390,176 (GRCm39) missense possibly damaging 0.69
R4645:Or4c101 UTSW 2 88,390,722 (GRCm39) missense probably damaging 0.98
R4934:Or4c101 UTSW 2 88,389,930 (GRCm39) missense probably benign 0.00
R5643:Or4c101 UTSW 2 88,389,849 (GRCm39) start codon destroyed probably null 0.90
R5644:Or4c101 UTSW 2 88,389,849 (GRCm39) start codon destroyed probably null 0.90
R7079:Or4c101 UTSW 2 88,389,853 (GRCm39) missense probably damaging 1.00
R9035:Or4c101 UTSW 2 88,389,863 (GRCm39) missense probably damaging 0.99
R9072:Or4c101 UTSW 2 88,390,658 (GRCm39) missense probably benign
R9073:Or4c101 UTSW 2 88,390,658 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCATTTCCCTTTGGTATGGCATG -3'
(R):5'- ACCAGCATCTTAGGGATTGTGC -3'

Sequencing Primer
(F):5'- TGGTATGGCATGAAACAAAATAATTC -3'
(R):5'- TTGTGCAAGAGGAATAACATGCATC -3'
Posted On 2018-06-06