Incidental Mutation 'IGL01079:Or6c209'
ID 52062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c209
Ensembl Gene ENSMUSG00000094734
Gene Name olfactory receptor family 6 subfamily C member 209
Synonyms GA_x6K02T2PULF-11325750-11326685, MOR114-2, Olfr799
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL01079
Quality Score
Status
Chromosome 10
Chromosomal Location 129482999-129483934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 129483243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 82 (L82R)
Ref Sequence ENSEMBL: ENSMUSP00000150406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071126] [ENSMUST00000213820] [ENSMUST00000214182] [ENSMUST00000216446] [ENSMUST00000217364]
AlphaFold Q8VGI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000071126
AA Change: L82R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071126
Gene: ENSMUSG00000094734
AA Change: L82R

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6e-46 PFAM
Pfam:7TM_GPCR_Srsx 32 302 6e-7 PFAM
Pfam:7tm_1 38 287 7.7e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213820
AA Change: L82R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214182
AA Change: L82R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216446
AA Change: L82R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217364
AA Change: L82R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 T A 5: 16,575,646 (GRCm39) S1079T probably benign Het
Cstb T C 10: 78,262,779 (GRCm39) S29P probably benign Het
Eif1ad13 A T 12: 87,762,578 (GRCm39) E99D possibly damaging Het
F8 T A X: 74,330,224 (GRCm39) D1222V probably damaging Het
Fcgbpl1 A T 7: 27,839,203 (GRCm39) S339C probably damaging Het
Gal3st1 A G 11: 3,948,564 (GRCm39) E257G probably damaging Het
Gm5424 T C 10: 61,907,863 (GRCm39) noncoding transcript Het
Ikbke A T 1: 131,193,384 (GRCm39) D515E possibly damaging Het
Irag1 C T 7: 110,545,174 (GRCm39) A41T possibly damaging Het
Or51b6 A G 7: 103,555,669 (GRCm39) I5V probably benign Het
Or5d43 A C 2: 88,105,060 (GRCm39) F111C probably damaging Het
Plekhg3 A T 12: 76,609,052 (GRCm39) I142L possibly damaging Het
Tet1 G A 10: 62,715,252 (GRCm39) T181I probably damaging Het
Tfcp2l1 T C 1: 118,580,612 (GRCm39) V102A possibly damaging Het
Other mutations in Or6c209
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Or6c209 APN 10 129,483,306 (GRCm39) missense probably benign 0.09
IGL01095:Or6c209 APN 10 129,483,498 (GRCm39) missense probably benign 0.00
R0080:Or6c209 UTSW 10 129,483,522 (GRCm39) missense probably benign 0.00
R0082:Or6c209 UTSW 10 129,483,522 (GRCm39) missense probably benign 0.00
R0268:Or6c209 UTSW 10 129,483,045 (GRCm39) missense possibly damaging 0.94
R0310:Or6c209 UTSW 10 129,483,600 (GRCm39) missense probably damaging 1.00
R0315:Or6c209 UTSW 10 129,483,366 (GRCm39) missense probably damaging 1.00
R0545:Or6c209 UTSW 10 129,483,218 (GRCm39) missense probably damaging 1.00
R1257:Or6c209 UTSW 10 129,483,413 (GRCm39) nonsense probably null
R2355:Or6c209 UTSW 10 129,483,711 (GRCm39) missense probably benign 0.02
R4905:Or6c209 UTSW 10 129,483,792 (GRCm39) missense possibly damaging 0.88
R5706:Or6c209 UTSW 10 129,483,960 (GRCm39) splice site probably null
R5961:Or6c209 UTSW 10 129,483,723 (GRCm39) missense possibly damaging 0.58
R6233:Or6c209 UTSW 10 129,483,165 (GRCm39) missense probably benign 0.01
R6843:Or6c209 UTSW 10 129,483,048 (GRCm39) missense possibly damaging 0.86
R7426:Or6c209 UTSW 10 129,483,027 (GRCm39) missense probably damaging 1.00
R7507:Or6c209 UTSW 10 129,483,366 (GRCm39) missense probably damaging 1.00
R7871:Or6c209 UTSW 10 129,483,281 (GRCm39) missense probably benign
R8315:Or6c209 UTSW 10 129,483,522 (GRCm39) missense probably benign 0.00
R9153:Or6c209 UTSW 10 129,483,306 (GRCm39) missense possibly damaging 0.84
Posted On 2013-06-21