Incidental Mutation 'IGL02444:Or2c1'
ID 293504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2c1
Ensembl Gene ENSMUSG00000059043
Gene Name olfactory receptor family 2 subfamily C member 1
Synonyms GA_x54KRFPKG5P-348087-349025, Olfr15, MOR256-17, OR3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL02444
Quality Score
Status
Chromosome 16
Chromosomal Location 3656839-3657777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3657551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 238 (F238S)
Ref Sequence ENSEMBL: ENSMUSP00000150757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080917] [ENSMUST00000214238] [ENSMUST00000214590]
AlphaFold P23275
Predicted Effect probably damaging
Transcript: ENSMUST00000080917
AA Change: F238S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079720
Gene: ENSMUSG00000059043
AA Change: F238S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 25 301 2.7e-8 PFAM
Pfam:7tm_4 31 307 1.3e-52 PFAM
Pfam:7tm_1 41 290 9.8e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214238
AA Change: F238S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214590
AA Change: F238S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,022,710 (GRCm39) I260T possibly damaging Het
Arhgap9 T A 10: 127,163,816 (GRCm39) V484D probably damaging Het
Asph A G 4: 9,542,319 (GRCm39) probably benign Het
Bbs9 T C 9: 22,555,083 (GRCm39) S457P probably damaging Het
Bckdk A G 7: 127,506,618 (GRCm39) T38A probably damaging Het
Cast G A 13: 74,887,972 (GRCm39) T240I probably damaging Het
Cdc27 T C 11: 104,413,542 (GRCm39) probably benign Het
Cdon T C 9: 35,384,744 (GRCm39) S677P probably benign Het
Cfap161 T C 7: 83,425,353 (GRCm39) E246G probably damaging Het
Dnah11 G A 12: 117,939,608 (GRCm39) probably benign Het
Dnm3 C T 1: 161,838,444 (GRCm39) V835I possibly damaging Het
Eif3a T C 19: 60,762,045 (GRCm39) H510R possibly damaging Het
Fbxw2 G T 2: 34,695,793 (GRCm39) T367K probably benign Het
Ghsr T C 3: 27,426,189 (GRCm39) S82P probably benign Het
Gm4353 C T 7: 115,682,679 (GRCm39) V301I probably benign Het
Golgb1 T C 16: 36,728,178 (GRCm39) probably benign Het
Gria2 T A 3: 80,609,860 (GRCm39) M650L possibly damaging Het
Herc4 T C 10: 63,142,212 (GRCm39) V671A probably benign Het
Iqcb1 T A 16: 36,652,273 (GRCm39) Y61* probably null Het
Irs2 C T 8: 11,056,306 (GRCm39) G709S probably benign Het
Itpripl1 T G 2: 126,983,621 (GRCm39) H167P possibly damaging Het
Kcnn3 T C 3: 89,559,359 (GRCm39) V543A possibly damaging Het
Klf10 T A 15: 38,298,068 (GRCm39) K43M probably damaging Het
Lcor C T 19: 41,547,450 (GRCm39) R345C probably damaging Het
Lmntd2 A G 7: 140,791,832 (GRCm39) S304P probably damaging Het
Lpar3 T C 3: 145,946,949 (GRCm39) I209T probably damaging Het
Map3k13 T A 16: 21,732,982 (GRCm39) M528K probably benign Het
Me1 A T 9: 86,464,967 (GRCm39) probably benign Het
Nedd4l T G 18: 65,337,028 (GRCm39) probably benign Het
Oas1d T A 5: 121,058,071 (GRCm39) F338L probably benign Het
Or1b1 G T 2: 36,994,786 (GRCm39) P292Q probably damaging Het
Pcdhb5 T C 18: 37,454,103 (GRCm39) V161A probably benign Het
Prdx3 A T 19: 60,859,899 (GRCm39) F91L possibly damaging Het
Rab25 T C 3: 88,450,020 (GRCm39) T114A probably benign Het
Rasal2 T C 1: 157,126,765 (GRCm39) E73G probably benign Het
Slco4c1 A G 1: 96,772,234 (GRCm39) S252P probably damaging Het
Srgap2 A C 1: 131,252,891 (GRCm39) probably null Het
Synpo A G 18: 60,735,502 (GRCm39) S576P probably damaging Het
Tktl2 G T 8: 66,966,013 (GRCm39) A524S possibly damaging Het
Tln2 A T 9: 67,165,874 (GRCm39) probably benign Het
Tmem52 G A 4: 155,554,850 (GRCm39) D158N probably damaging Het
Tyw3 T A 3: 154,302,626 (GRCm39) Q36L probably damaging Het
Usp10 A T 8: 120,675,432 (GRCm39) I483F possibly damaging Het
Usp31 A G 7: 121,278,718 (GRCm39) Y216H probably damaging Het
Vmn1r181 T C 7: 23,683,948 (GRCm39) S138P probably damaging Het
Vmn2r42 G T 7: 8,187,312 (GRCm39) A770E probably damaging Het
Zfp292 A C 4: 34,808,810 (GRCm39) S1411R possibly damaging Het
Other mutations in Or2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Or2c1 APN 16 3,657,641 (GRCm39) missense probably damaging 0.99
IGL02516:Or2c1 APN 16 3,657,200 (GRCm39) missense probably damaging 1.00
IGL02941:Or2c1 APN 16 3,657,680 (GRCm39) missense possibly damaging 0.64
PIT4812001:Or2c1 UTSW 16 3,657,394 (GRCm39) nonsense probably null
R0380:Or2c1 UTSW 16 3,656,849 (GRCm39) missense probably benign
R1542:Or2c1 UTSW 16 3,657,696 (GRCm39) missense probably damaging 1.00
R1574:Or2c1 UTSW 16 3,657,521 (GRCm39) missense probably damaging 0.99
R1574:Or2c1 UTSW 16 3,657,521 (GRCm39) missense probably damaging 0.99
R1633:Or2c1 UTSW 16 3,657,396 (GRCm39) missense probably damaging 1.00
R4207:Or2c1 UTSW 16 3,657,434 (GRCm39) missense probably damaging 1.00
R4632:Or2c1 UTSW 16 3,656,951 (GRCm39) missense probably damaging 1.00
R4965:Or2c1 UTSW 16 3,657,434 (GRCm39) missense probably damaging 1.00
R5014:Or2c1 UTSW 16 3,656,912 (GRCm39) missense probably benign 0.01
R6575:Or2c1 UTSW 16 3,656,894 (GRCm39) missense probably benign 0.00
R7367:Or2c1 UTSW 16 3,657,166 (GRCm39) missense probably damaging 0.99
R7523:Or2c1 UTSW 16 3,657,563 (GRCm39) missense probably benign
R7697:Or2c1 UTSW 16 3,657,430 (GRCm39) missense probably damaging 0.96
R7876:Or2c1 UTSW 16 3,656,658 (GRCm39) splice site probably null
R9536:Or2c1 UTSW 16 3,657,438 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16