Incidental Mutation 'R5471:Or6c1'
ID 433823
Institutional Source Beutler Lab
Gene Symbol Or6c1
Ensembl Gene ENSMUSG00000093866
Gene Name olfactory receptor family 6 subfamily C member 1
Synonyms MOR111-1, Olfr802, GA_x6K02T2PULF-11361362-11360424
MMRRC Submission 043032-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5471 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 129517668-129518606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129517925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 228 (S228P)
Ref Sequence ENSEMBL: ENSMUSP00000150123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074713] [ENSMUST00000203785] [ENSMUST00000217576]
AlphaFold Q8VGJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000074713
AA Change: S228P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074275
Gene: ENSMUSG00000093866
AA Change: S228P

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203785
AA Change: S228P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866
AA Change: S228P

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217576
AA Change: S228P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.3062 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency 96% (67/70)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 C T 7: 119,259,829 (GRCm39) H493Y probably damaging Het
Alox12e T C 11: 70,210,850 (GRCm39) I290V probably benign Het
Ankfy1 T A 11: 72,619,617 (GRCm39) N163K probably benign Het
Baiap2l1 T G 5: 144,218,951 (GRCm39) N219T probably benign Het
Cd72 T C 4: 43,448,345 (GRCm39) I312V probably benign Het
Cfap54 A T 10: 92,864,522 (GRCm39) M139K probably damaging Het
Clec4n T A 6: 123,209,145 (GRCm39) M70K probably benign Het
Cmklr2 A C 1: 63,223,058 (GRCm39) V59G probably damaging Het
Cwh43 T A 5: 73,565,574 (GRCm39) C46* probably null Het
Cyp1a2 A T 9: 57,586,303 (GRCm39) I405N probably damaging Het
Dlc1 G T 8: 37,051,879 (GRCm39) S617R probably benign Het
Eif2ak4 A G 2: 118,304,613 (GRCm39) N1546S probably benign Het
Elmo1 A G 13: 20,756,555 (GRCm39) I548V probably benign Het
Exoc6 A G 19: 37,588,065 (GRCm39) D566G probably benign Het
Fam20b T C 1: 156,533,299 (GRCm39) T106A probably damaging Het
Fam83h T C 15: 75,874,752 (GRCm39) T862A probably benign Het
Fgfr1op2 A T 6: 146,498,860 (GRCm39) probably null Het
Gcnt2 A G 13: 41,014,195 (GRCm39) Y122C probably damaging Het
Gm11992 A T 11: 9,018,333 (GRCm39) probably null Het
Gm5114 C A 7: 39,058,534 (GRCm39) E362* probably null Het
Gm815 A G 19: 26,865,769 (GRCm39) T96A unknown Het
Gm8674 A G 13: 50,054,849 (GRCm39) noncoding transcript Het
Gnat3 T A 5: 18,196,322 (GRCm39) I56N probably damaging Het
Igkv1-133 T C 6: 67,702,531 (GRCm39) V83A probably benign Het
Mrgprb8 T A 7: 48,038,471 (GRCm39) N47K probably damaging Het
Nav2 A G 7: 49,197,917 (GRCm39) D1182G probably damaging Het
Neto2 T C 8: 86,367,389 (GRCm39) T480A probably benign Het
Npnt T G 3: 132,620,148 (GRCm39) N115T probably benign Het
Nr1h5 T C 3: 102,856,442 (GRCm39) N279S possibly damaging Het
Ntrk2 T C 13: 59,019,574 (GRCm39) V395A probably benign Het
Or2ak6 T C 11: 58,593,151 (GRCm39) L208S probably damaging Het
Or5ac23 T G 16: 59,148,994 (GRCm39) N293H probably damaging Het
Padi2 A G 4: 140,660,519 (GRCm39) K333R possibly damaging Het
Pira1 T A 7: 3,738,514 (GRCm39) I621F probably benign Het
Ptgis C A 2: 167,066,039 (GRCm39) M130I probably benign Het
Ptpn4 A T 1: 119,693,649 (GRCm39) Y124* probably null Het
Saal1 C T 7: 46,349,072 (GRCm39) V281M probably benign Het
Saxo1 G A 4: 86,363,961 (GRCm39) T174I probably damaging Het
Slc7a12 G A 3: 14,545,935 (GRCm39) V27M probably damaging Het
Slco4c1 C A 1: 96,799,770 (GRCm39) R22L probably benign Het
Slfn9 T G 11: 82,873,613 (GRCm39) Q430P possibly damaging Het
Slit2 T A 5: 48,346,897 (GRCm39) N246K probably damaging Het
Stox2 G T 8: 47,646,548 (GRCm39) T304K probably damaging Het
Tmem87b T G 2: 128,693,240 (GRCm39) F542V possibly damaging Het
Topaz1 T G 9: 122,620,481 (GRCm39) probably null Het
Trappc12 G A 12: 28,741,499 (GRCm39) R737W probably damaging Het
Trim9 A G 12: 70,393,566 (GRCm39) I126T possibly damaging Het
Txnl1 A G 18: 63,809,997 (GRCm39) C149R probably damaging Het
Ubald1 G A 16: 4,693,705 (GRCm39) T70M probably damaging Het
Vash1 G A 12: 86,735,902 (GRCm39) V263M possibly damaging Het
Vsx1 T C 2: 150,524,986 (GRCm39) T343A probably benign Het
Zfp397 A G 18: 24,093,081 (GRCm39) N189D probably benign Het
Other mutations in Or6c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Or6c1 APN 10 129,517,857 (GRCm39) nonsense probably null
IGL03112:Or6c1 APN 10 129,517,792 (GRCm39) missense probably benign 0.08
R0366:Or6c1 UTSW 10 129,517,840 (GRCm39) missense possibly damaging 0.72
R0463:Or6c1 UTSW 10 129,517,708 (GRCm39) missense probably benign 0.11
R0579:Or6c1 UTSW 10 129,518,106 (GRCm39) nonsense probably null
R1769:Or6c1 UTSW 10 129,518,081 (GRCm39) missense probably benign 0.15
R2128:Or6c1 UTSW 10 129,518,401 (GRCm39) missense possibly damaging 0.78
R2375:Or6c1 UTSW 10 129,518,032 (GRCm39) missense probably benign 0.04
R3888:Or6c1 UTSW 10 129,518,088 (GRCm39) missense probably benign 0.43
R3888:Or6c1 UTSW 10 129,518,087 (GRCm39) missense possibly damaging 0.94
R4956:Or6c1 UTSW 10 129,517,968 (GRCm39) missense probably benign 0.00
R5588:Or6c1 UTSW 10 129,517,705 (GRCm39) missense possibly damaging 0.72
R7305:Or6c1 UTSW 10 129,518,149 (GRCm39) missense probably damaging 0.99
R7969:Or6c1 UTSW 10 129,517,699 (GRCm39) missense probably benign
R7995:Or6c1 UTSW 10 129,518,509 (GRCm39) missense probably damaging 1.00
R9142:Or6c1 UTSW 10 129,518,285 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AAAGGCTTGCTTGACTTGCTG -3'
(R):5'- TTGTGGCTCCAATATCATTGATCAC -3'

Sequencing Primer
(F):5'- TTCCTCAGGCTATAAATGAAGGG -3'
(R):5'- GGCTCCAATATCATTGATCACTATAC -3'
Posted On 2016-10-06