Incidental Mutation 'IGL01153:Or6c2'
ID 52173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c2
Ensembl Gene ENSMUSG00000047626
Gene Name olfactory receptor family 6 subfamily C member 2
Synonyms MOR114-1, Olfr791, GA_x6K02T2PULF-11205096-11206034
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01153
Quality Score
Status
Chromosome 10
Chromosomal Location 129362098-129363036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129362864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 256 (I256N)
Ref Sequence ENSEMBL: ENSMUSP00000150497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057477] [ENSMUST00000217228]
AlphaFold Q8VGJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000057477
AA Change: I256N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: I256N

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 7.6e-45 PFAM
Pfam:7TM_GPCR_Srsx 33 303 4.3e-6 PFAM
Pfam:7tm_1 39 288 4.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217228
AA Change: I256N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,567,247 (GRCm39) I5309V probably benign Het
Amy1 A G 3: 113,349,724 (GRCm39) V482A possibly damaging Het
Ankrd22 A T 19: 34,106,229 (GRCm39) V81E probably damaging Het
Ccr5 C A 9: 123,924,649 (GRCm39) T84K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chchd3 A T 6: 32,985,502 (GRCm39) probably benign Het
Cpt1c C T 7: 44,616,092 (GRCm39) E307K probably damaging Het
Cyth2 T C 7: 45,457,813 (GRCm39) Y120C probably damaging Het
Dnajb11 T A 16: 22,681,430 (GRCm39) D69E probably benign Het
Ece2 T A 16: 20,451,544 (GRCm39) M215K possibly damaging Het
Enox2 C A X: 48,151,015 (GRCm39) probably null Het
Fam120c T C X: 150,182,801 (GRCm39) probably null Het
Fam149b A G 14: 20,427,949 (GRCm39) T319A possibly damaging Het
Fndc1 A T 17: 7,998,874 (GRCm39) probably null Het
Gcsh T A 8: 117,710,549 (GRCm39) D138V probably benign Het
Herc3 T A 6: 58,837,321 (GRCm39) H331Q probably benign Het
Iars1 A G 13: 49,865,281 (GRCm39) N586D probably damaging Het
Idh3g A G X: 72,823,668 (GRCm39) V280A probably damaging Het
Kctd18 A G 1: 58,004,550 (GRCm39) S115P probably damaging Het
Lims2 A G 18: 32,090,370 (GRCm39) probably null Het
Lyset T A 12: 102,711,135 (GRCm39) Y119* probably null Het
Mael T C 1: 166,029,919 (GRCm39) K334E possibly damaging Het
Me3 A C 7: 89,498,844 (GRCm39) T475P probably damaging Het
Mrpl18 A G 17: 13,134,693 (GRCm39) L24P possibly damaging Het
Nol4 C A 18: 22,902,850 (GRCm39) R460L probably damaging Het
Numa1 A T 7: 101,643,951 (GRCm39) E181V probably damaging Het
Pex2 A T 3: 5,626,424 (GRCm39) H128Q probably benign Het
Pex3 A T 10: 13,428,597 (GRCm39) probably null Het
Psmb8 A G 17: 34,420,215 (GRCm39) Y269C possibly damaging Het
Sh2d3c A G 2: 32,615,096 (GRCm39) K62R probably benign Het
Strn4 G A 7: 16,571,846 (GRCm39) G613D probably damaging Het
Taok2 A G 7: 126,470,204 (GRCm39) W875R probably damaging Het
Tbc1d4 T C 14: 101,845,451 (GRCm39) D149G possibly damaging Het
Zfp473 A G 7: 44,383,992 (GRCm39) S113P probably damaging Het
Zfp768 A G 7: 126,943,703 (GRCm39) Y145H possibly damaging Het
Zgrf1 G A 3: 127,396,055 (GRCm39) G534R probably damaging Het
Other mutations in Or6c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03034:Or6c2 APN 10 129,362,527 (GRCm39) missense probably benign
IGL03281:Or6c2 APN 10 129,362,272 (GRCm39) missense probably benign 0.31
R0555:Or6c2 UTSW 10 129,362,765 (GRCm39) missense possibly damaging 0.90
R1474:Or6c2 UTSW 10 129,362,824 (GRCm39) missense probably benign 0.03
R1638:Or6c2 UTSW 10 129,362,488 (GRCm39) missense probably benign 0.00
R1917:Or6c2 UTSW 10 129,362,918 (GRCm39) missense probably damaging 0.99
R1918:Or6c2 UTSW 10 129,362,918 (GRCm39) missense probably damaging 0.99
R1919:Or6c2 UTSW 10 129,362,918 (GRCm39) missense probably damaging 0.99
R2303:Or6c2 UTSW 10 129,362,918 (GRCm39) missense probably benign 0.10
R3113:Or6c2 UTSW 10 129,363,012 (GRCm39) missense probably benign 0.08
R3929:Or6c2 UTSW 10 129,362,100 (GRCm39) start codon destroyed probably null 1.00
R4704:Or6c2 UTSW 10 129,362,171 (GRCm39) missense possibly damaging 0.90
R4831:Or6c2 UTSW 10 129,362,449 (GRCm39) missense probably damaging 1.00
R5207:Or6c2 UTSW 10 129,362,773 (GRCm39) missense probably benign 0.08
R5313:Or6c2 UTSW 10 129,362,950 (GRCm39) missense probably damaging 1.00
R5644:Or6c2 UTSW 10 129,362,972 (GRCm39) missense probably damaging 1.00
R5661:Or6c2 UTSW 10 129,362,618 (GRCm39) missense probably benign 0.45
R5894:Or6c2 UTSW 10 129,362,357 (GRCm39) missense probably damaging 0.98
R6988:Or6c2 UTSW 10 129,362,542 (GRCm39) missense probably benign 0.02
R6996:Or6c2 UTSW 10 129,362,732 (GRCm39) missense probably damaging 1.00
R7380:Or6c2 UTSW 10 129,362,530 (GRCm39) missense probably benign
R7539:Or6c2 UTSW 10 129,362,974 (GRCm39) nonsense probably null
R7552:Or6c2 UTSW 10 129,362,429 (GRCm39) missense possibly damaging 0.95
R7635:Or6c2 UTSW 10 129,362,551 (GRCm39) missense probably benign 0.00
R8084:Or6c2 UTSW 10 129,362,809 (GRCm39) missense probably damaging 1.00
R8260:Or6c2 UTSW 10 129,362,957 (GRCm39) missense possibly damaging 0.55
R8755:Or6c2 UTSW 10 129,362,332 (GRCm39) missense possibly damaging 0.60
X0066:Or6c2 UTSW 10 129,362,614 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21