Incidental Mutation 'R3888:Or6c1'
ID 312871
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 040800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3888 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 129517668-129518606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129518088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 173 (D173E)
Ref Sequence ENSEMBL: ENSMUSP00000074275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074713] [ENSMUST00000203785] [ENSMUST00000217576]
AlphaFold Q8VGJ2
Predicted Effect probably benign
Transcript: ENSMUST00000074713
AA Change: D173E

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074275
Gene: ENSMUSG00000093866
AA Change: D173E

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203785
AA Change: D173E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866
AA Change: D173E

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217576
AA Change: D173E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Acbd6 A G 1: 155,500,643 (GRCm39) D201G probably damaging Het
Adam17 G A 12: 21,375,588 (GRCm39) R744C probably damaging Het
Adss2 A G 1: 177,595,335 (GRCm39) Y402H probably damaging Het
Ano3 T A 2: 110,715,345 (GRCm39) K31I probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Cmya5 T G 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Frem1 T C 4: 82,831,844 (GRCm39) R1991G probably benign Het
Gimap7 G A 6: 48,700,779 (GRCm39) E122K probably benign Het
Hps3 A G 3: 20,057,387 (GRCm39) probably null Het
Kctd2 A T 11: 115,318,345 (GRCm39) K209N probably damaging Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Muc5ac T C 7: 141,344,961 (GRCm39) V144A possibly damaging Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Ntf3 T C 6: 126,079,405 (GRCm39) M21V probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Or5b97 A T 19: 12,878,497 (GRCm39) C216S probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Robo3 G A 9: 37,333,477 (GRCm39) Q723* probably null Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Slc12a6 T A 2: 112,097,375 (GRCm39) L70Q possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Smim17 G T 7: 6,432,279 (GRCm39) G74C probably damaging Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Suv39h2 G A 2: 3,465,845 (GRCm39) T170I probably benign Het
Thrb A G 14: 18,033,551 (GRCm38) K424R probably damaging Het
Tm4sf4 C T 3: 57,345,166 (GRCm39) Q191* probably null Het
Trak1 G T 9: 121,271,863 (GRCm39) probably null Het
Ttn A G 2: 76,540,618 (GRCm39) S25796P probably damaging Het
Ugp2 T C 11: 21,303,366 (GRCm39) R80G probably benign Het
Utp15 C T 13: 98,395,674 (GRCm39) V103I probably benign Het
Wdr3 A T 3: 100,061,222 (GRCm39) S249T probably benign Het
Zeb1 T A 18: 5,748,743 (GRCm39) D86E probably damaging 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 10 129,518,087 (GRCm39) missense possibly damaging 0.94
R4956:Or6c1 UTSW 10 129,517,968 (GRCm39) missense probably benign 0.00
R5471:Or6c1 UTSW 10 129,517,925 (GRCm39) missense probably damaging 1.00
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'- ACATGTGGAAAAGGCCTTTGAC -3'
(R):5'- TGGGAGTCACTGAATTTTACCTTC -3'

Sequencing Primer
(F):5'- GAAAAGGCCTTTGACCTCTGACTG -3'
(R):5'- TAGCTGCCATGTCCTATGACCG -3'
Posted On 2015-04-30