Incidental Mutation 'R4207:Or2c1'
ID 318993
Institutional Source Beutler Lab
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
MMRRC Submission 041036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R4207 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 3656839-3657777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3657434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 199 (L199P)
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: L199P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079720
Gene: ENSMUSG00000059043
AA Change: L199P

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: L199P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214590
AA Change: L199P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.4444 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (60/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Acap2 T A 16: 30,938,245 (GRCm39) N293I probably damaging Het
Adgrg4 G A X: 55,964,109 (GRCm39) V1893I possibly damaging Het
Aff1 T C 5: 103,966,854 (GRCm39) probably null Het
Ap1b1 A G 11: 4,981,637 (GRCm39) D515G probably damaging Het
Brk1 T C 6: 113,592,805 (GRCm39) Y63H possibly damaging Het
Cand1 T C 10: 119,047,750 (GRCm39) D580G probably damaging Het
Casp4 A G 9: 5,328,451 (GRCm39) D311G probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctnnd2 G T 15: 30,972,973 (GRCm39) V1033F probably damaging Het
Dhx29 G T 13: 113,064,483 (GRCm39) A53S probably benign Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
Efl1 T C 7: 82,400,024 (GRCm39) V592A probably damaging Het
Elovl7 A T 13: 108,419,040 (GRCm39) Q224L possibly damaging Het
Fcgr3 T A 1: 170,881,644 (GRCm39) K160N probably benign Het
Flg A G 3: 93,187,169 (GRCm39) Y207C probably benign Het
Fmn2 A G 1: 174,409,521 (GRCm39) T585A unknown Het
Gm7135 T C 1: 97,397,620 (GRCm39) noncoding transcript Het
Gm8104 G T 14: 42,959,091 (GRCm39) D94Y probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Kbtbd4 T C 2: 90,740,099 (GRCm39) F495L probably damaging Het
Lingo2 T C 4: 35,709,810 (GRCm39) I57V probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Mthfsd A G 8: 121,832,365 (GRCm39) V133A probably damaging Het
Nav2 T A 7: 49,246,979 (GRCm39) I2168N probably damaging Het
Nav2 T A 7: 49,222,046 (GRCm39) probably null Het
Nlrp10 T A 7: 108,523,548 (GRCm39) D644V possibly damaging Het
Oplah C T 15: 76,186,910 (GRCm39) R635H probably damaging Het
Or10n1 A G 9: 39,525,253 (GRCm39) Y130C possibly damaging Het
Or5b117 T C 19: 13,431,835 (GRCm39) I15M probably benign Het
Peli1 A G 11: 21,097,115 (GRCm39) probably null Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Pld5 T G 1: 175,821,441 (GRCm39) T242P probably damaging Het
Rbm5 A G 9: 107,627,682 (GRCm39) S420P probably benign Het
Rhag A T 17: 41,142,544 (GRCm39) I250F probably damaging Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Scaf4 C T 16: 90,057,103 (GRCm39) V83I unknown Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Slc5a8 G T 10: 88,747,275 (GRCm39) L409F probably damaging Het
Spns3 A T 11: 72,429,187 (GRCm39) V199E probably damaging Het
Sspo A G 6: 48,455,227 (GRCm39) T3030A probably benign Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Stk39 G T 2: 68,051,264 (GRCm39) T527K probably benign Het
Sult2a1 T A 7: 13,535,472 (GRCm39) T194S probably benign Het
Tamm41 AGGG AGG 6: 114,989,320 (GRCm39) probably benign Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Umodl1 G A 17: 31,178,341 (GRCm39) V106I probably damaging Het
Vmn2r85 A C 10: 130,254,574 (GRCm39) C703W probably damaging Het
Vmn2r92 G A 17: 18,404,523 (GRCm39) V556M possibly damaging Het
Zfp292 T C 4: 34,806,079 (GRCm39) I2322V probably benign Het
Zfp644 T C 5: 106,766,142 (GRCm39) E93G probably damaging Het
Zfp81 C T 17: 33,553,890 (GRCm39) C308Y probably damaging Het
Other mutations in Or2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Or2c1 APN 16 3,657,641 (GRCm39) missense probably damaging 0.99
IGL02444:Or2c1 APN 16 3,657,551 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-10