Incidental Mutation 'IGL02939:Or6c1'
ID 365919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c1
Ensembl Gene ENSMUSG00000093866
Gene Name olfactory receptor family 6 subfamily C member 1
Synonyms MOR111-1, Olfr802, GA_x6K02T2PULF-11361362-11360424
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02939
Quality Score
Status
Chromosome 10
Chromosomal Location 129517668-129518606 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 129517857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 250 (Y250*)
Ref Sequence ENSEMBL: ENSMUSP00000150123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074713] [ENSMUST00000203785] [ENSMUST00000217576]
AlphaFold Q8VGJ2
Predicted Effect probably null
Transcript: ENSMUST00000074713
AA Change: Y250*
SMART Domains Protein: ENSMUSP00000074275
Gene: ENSMUSG00000093866
AA Change: Y250*

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000203785
AA Change: Y250*
SMART Domains Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866
AA Change: Y250*

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000217576
AA Change: Y250*
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6ap1 A G X: 73,340,924 (GRCm39) D47G probably benign Het
Atr T C 9: 95,747,314 (GRCm39) F199L probably benign Het
Bivm C A 1: 44,182,120 (GRCm39) H443N probably benign Het
Btnl2 A T 17: 34,580,043 (GRCm39) H192L probably benign Het
Ccdc178 A T 18: 22,253,775 (GRCm39) C155S probably benign Het
Celsr1 C A 15: 85,785,673 (GRCm39) V2934L probably benign Het
Celsr3 T C 9: 108,726,652 (GRCm39) S3294P probably damaging Het
Ddx10 T A 9: 53,115,579 (GRCm39) E585V possibly damaging Het
Elapor2 T C 5: 9,511,478 (GRCm39) Y947H probably damaging Het
Eps15l1 A T 8: 73,138,606 (GRCm39) probably benign Het
Erlin1 G T 19: 44,051,491 (GRCm39) T70K probably damaging Het
Ext2 A T 2: 93,534,964 (GRCm39) probably null Het
Fam124a G A 14: 62,793,368 (GRCm39) probably null Het
Fam53a T C 5: 33,765,103 (GRCm39) D201G probably damaging Het
Fgf14 C T 14: 124,369,891 (GRCm39) G136D possibly damaging Het
Gdi2 A T 13: 3,614,623 (GRCm39) T323S probably benign Het
Gemin5 A T 11: 58,047,556 (GRCm39) N339K probably damaging Het
Golga4 A G 9: 118,364,522 (GRCm39) E286G probably benign Het
Golga4 A C 9: 118,363,700 (GRCm39) K233T probably damaging Het
Gosr1 A G 11: 76,641,732 (GRCm39) probably benign Het
Haus8 A G 8: 71,708,361 (GRCm39) probably benign Het
Itgb3bp T C 4: 99,690,373 (GRCm39) T49A probably null Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Lpo A G 11: 87,706,004 (GRCm39) M273T possibly damaging Het
Map3k4 T A 17: 12,491,036 (GRCm39) S132C probably damaging Het
Mycbp2 T G 14: 103,414,715 (GRCm39) T2566P probably benign Het
Nalcn T C 14: 123,536,284 (GRCm39) E1255G probably null Het
Nop56 A T 2: 130,120,117 (GRCm39) K157N probably damaging Het
Or10g9 C T 9: 39,912,194 (GRCm39) E110K probably benign Het
Pcdh15 A G 10: 74,340,648 (GRCm39) probably benign Het
Pi4ka T C 16: 17,172,074 (GRCm39) H557R probably damaging Het
Plekha4 C T 7: 45,181,787 (GRCm39) Q64* probably null Het
Ppp2r3c G A 12: 55,345,192 (GRCm39) probably benign Het
Rgmb C T 17: 16,027,755 (GRCm39) M321I probably benign Het
Rnf31 T C 14: 55,833,131 (GRCm39) S363P probably benign Het
Sap18b T A 8: 96,552,329 (GRCm39) M113K probably benign Het
Scara3 T A 14: 66,169,105 (GRCm39) M171L probably benign Het
Slc9a2 T G 1: 40,781,863 (GRCm39) M364R probably damaging Het
Sorcs1 C T 19: 50,666,368 (GRCm39) W180* probably null Het
Stat6 T A 10: 127,482,809 (GRCm39) M10K probably benign Het
Sun1 T C 5: 139,221,243 (GRCm39) probably benign Het
Tead2 T C 7: 44,869,858 (GRCm39) probably benign Het
Tjp1 T G 7: 64,964,638 (GRCm39) E844D probably damaging Het
Tmtc2 A G 10: 105,206,411 (GRCm39) S295P probably damaging Het
Ttn G A 2: 76,612,756 (GRCm39) R17108C probably damaging Het
Ubr1 T C 2: 120,711,664 (GRCm39) probably null Het
Vmn2r108 T A 17: 20,691,545 (GRCm39) H326L probably benign Het
Xdh A G 17: 74,250,840 (GRCm39) probably null Het
Zfp385b A G 2: 77,242,403 (GRCm39) S439P probably benign Het
Zfp597 G A 16: 3,683,805 (GRCm39) S317L probably benign Het
Zfp638 A G 6: 83,946,214 (GRCm39) D1081G probably damaging Het
Zfp93 C T 7: 23,974,509 (GRCm39) H165Y possibly damaging Het
Other mutations in Or6c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-12-18