Incidental Mutation 'IGL03028:Or5c1'
ID 408262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5c1
Ensembl Gene ENSMUSG00000049018
Gene Name olfactory receptor family 5 subfamily C member 1
Synonyms GA_x6K02T2NLDC-34015743-34016726, Olfr368, MOR178-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL03028
Quality Score
Status
Chromosome 2
Chromosomal Location 37221761-37222744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37221968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 70 (L70F)
Ref Sequence ENSEMBL: ENSMUSP00000149348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053990] [ENSMUST00000217299]
AlphaFold Q8VF22
Predicted Effect probably damaging
Transcript: ENSMUST00000053990
AA Change: L70F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054082
Gene: ENSMUSG00000049018
AA Change: L70F

DomainStartEndE-ValueType
Pfam:7tm_4 35 311 2.2e-45 PFAM
Pfam:7tm_1 45 294 1.2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217299
AA Change: L70F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly damaging Het
Other mutations in Or5c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Or5c1 APN 2 37,222,023 (GRCm39) missense possibly damaging 0.60
IGL02955:Or5c1 APN 2 37,222,013 (GRCm39) missense probably benign 0.07
IGL03084:Or5c1 APN 2 37,222,413 (GRCm39) missense probably damaging 1.00
R1626:Or5c1 UTSW 2 37,222,774 (GRCm39) splice site probably null
R1655:Or5c1 UTSW 2 37,221,951 (GRCm39) missense probably damaging 1.00
R1771:Or5c1 UTSW 2 37,222,430 (GRCm39) missense probably benign 0.23
R1937:Or5c1 UTSW 2 37,221,896 (GRCm39) missense probably damaging 1.00
R2297:Or5c1 UTSW 2 37,222,155 (GRCm39) missense probably benign 0.04
R4354:Or5c1 UTSW 2 37,221,888 (GRCm39) missense probably damaging 1.00
R4888:Or5c1 UTSW 2 37,222,601 (GRCm39) missense probably damaging 1.00
R4974:Or5c1 UTSW 2 37,222,578 (GRCm39) missense probably damaging 1.00
R5121:Or5c1 UTSW 2 37,222,601 (GRCm39) missense probably damaging 1.00
R6144:Or5c1 UTSW 2 37,222,125 (GRCm39) missense probably damaging 0.97
R6449:Or5c1 UTSW 2 37,221,837 (GRCm39) missense possibly damaging 0.93
R7670:Or5c1 UTSW 2 37,221,771 (GRCm39) missense probably benign 0.10
R8049:Or5c1 UTSW 2 37,222,346 (GRCm39) missense probably damaging 1.00
R8486:Or5c1 UTSW 2 37,222,662 (GRCm39) missense probably damaging 1.00
R8893:Or5c1 UTSW 2 37,222,388 (GRCm39) missense probably damaging 1.00
R9147:Or5c1 UTSW 2 37,222,017 (GRCm39) missense possibly damaging 0.68
R9148:Or5c1 UTSW 2 37,222,017 (GRCm39) missense possibly damaging 0.68
R9401:Or5c1 UTSW 2 37,222,293 (GRCm39) missense possibly damaging 0.94
R9574:Or5c1 UTSW 2 37,222,148 (GRCm39) missense possibly damaging 0.92
Z1177:Or5c1 UTSW 2 37,222,016 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02