Incidental Mutation 'IGL03034:Or6c2'
ID 408563
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 # IGL03034
Quality Score
Status
Chromosome 10
Chromosomal Location 129362098-129363036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129362527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 144 (I144F)
Ref Sequence ENSEMBL: ENSMUSP00000150497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057477] [ENSMUST00000217228]
AlphaFold Q8VGJ0
Predicted Effect probably benign
Transcript: ENSMUST00000057477
AA Change: I144F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: I144F

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 benign
Transcript: ENSMUST00000217228
AA Change: I144F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,780,908 (GRCm39) probably benign Het
Ablim2 A G 5: 35,985,509 (GRCm39) T269A probably benign Het
Asgr2 G T 11: 69,989,089 (GRCm39) G178W probably damaging Het
Chtf18 A G 17: 25,946,320 (GRCm39) probably benign Het
Cnmd C T 14: 79,879,368 (GRCm39) A257T probably benign Het
Cox7a1 A G 7: 29,884,693 (GRCm39) probably benign Het
Cpox C T 16: 58,495,718 (GRCm39) T345M probably damaging Het
Crisp1 T C 17: 40,618,619 (GRCm39) T81A probably benign Het
Dcc T A 18: 71,708,214 (GRCm39) R501* probably null Het
Dlx6 A C 6: 6,863,807 (GRCm39) Q143P probably benign Het
Dpp10 T A 1: 123,269,348 (GRCm39) Y687F probably damaging Het
Eif2b1 A G 5: 124,709,894 (GRCm39) V228A probably benign Het
Enpep T C 3: 129,092,599 (GRCm39) D528G probably damaging Het
Fbxo6 G A 4: 148,230,579 (GRCm39) Q228* probably null Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Kctd9 T A 14: 67,971,728 (GRCm39) S268T probably benign Het
Kifap3 G A 1: 163,715,846 (GRCm39) V749M probably benign Het
Mdm4 T C 1: 132,938,809 (GRCm39) D94G probably damaging Het
Mllt10 T G 2: 18,069,847 (GRCm39) M1R probably null Het
Mtcl1 T C 17: 66,651,193 (GRCm39) Y1424C probably damaging Het
Mybpc2 A T 7: 44,161,321 (GRCm39) I549N possibly damaging Het
Myocd T C 11: 65,109,511 (GRCm39) T87A probably benign Het
Nr3c2 T G 8: 77,914,267 (GRCm39) Y824* probably null Het
Omg T A 11: 79,392,947 (GRCm39) T304S possibly damaging Het
Or4b1 A G 2: 89,980,177 (GRCm39) Y58H probably damaging Het
Or52p2 G A 7: 102,237,147 (GRCm39) H268Y probably benign Het
Or5an1b T C 19: 12,300,018 (GRCm39) T58A possibly damaging Het
Or5b97 T C 19: 12,879,121 (GRCm39) T8A possibly damaging Het
Pde3a G A 6: 141,438,126 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,469,252 (GRCm39) K129E probably damaging Het
Phka2 G T X: 159,360,546 (GRCm39) E858* probably null Het
Pp2d1 T C 17: 53,815,081 (GRCm39) T548A possibly damaging Het
Prr14l G A 5: 32,984,782 (GRCm39) A1571V possibly damaging Het
Rbms3 A G 9: 117,080,879 (GRCm39) probably benign Het
Sparcl1 T C 5: 104,241,103 (GRCm39) E107G probably damaging Het
Stra6l A G 4: 45,885,392 (GRCm39) D620G probably benign Het
Traf3ip2 A T 10: 39,502,215 (GRCm39) K121I probably damaging Het
Ttc34 T C 4: 154,945,640 (GRCm39) S734P probably damaging Het
Zfp953 C T 13: 67,491,526 (GRCm39) C142Y probably damaging Het
Zfp955b T A 17: 33,521,142 (GRCm39) C204S probably benign Het
Other mutations in Or6c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Or6c2 APN 10 129,362,864 (GRCm39) missense probably damaging 0.97
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 2016-08-02