Incidental Mutation 'IGL00978:Or2n1c'
ID 29353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2n1c
Ensembl Gene ENSMUSG00000057801
Gene Name olfactory receptor family 2 subfamily N member 1C
Synonyms MOR256-48, GA_x6K02T2PSCP-2656648-2657586, Olfr135
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL00978
Quality Score
Status
Chromosome 17
Chromosomal Location 38519138-38520076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38519873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 246 (I246F)
Ref Sequence ENSEMBL: ENSMUSP00000150535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076245] [ENSMUST00000213217]
AlphaFold Q8VEY4
Predicted Effect probably damaging
Transcript: ENSMUST00000076245
AA Change: I246F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075595
Gene: ENSMUSG00000057801
AA Change: I246F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.6e-50 PFAM
Pfam:7tm_1 41 290 9.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213217
AA Change: I246F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,241,773 (GRCm39) probably benign Het
Alpk2 A T 18: 65,424,605 (GRCm39) probably benign Het
Angptl8 T C 9: 21,748,349 (GRCm39) probably benign Het
AU040320 T A 4: 126,722,632 (GRCm39) D383E probably benign Het
Cep97 C T 16: 55,745,323 (GRCm39) probably benign Het
Clcn4 A T 7: 7,290,672 (GRCm39) L649H probably damaging Het
Col5a2 T C 1: 45,415,899 (GRCm39) N1416S probably benign Het
Erbb2 C T 11: 98,326,456 (GRCm39) P1027S probably damaging Het
Eya1 A G 1: 14,340,925 (GRCm39) probably benign Het
Gfm2 T C 13: 97,299,485 (GRCm39) I402T probably benign Het
Gmeb2 A T 2: 180,900,836 (GRCm39) V187E probably benign Het
Hectd1 T C 12: 51,838,173 (GRCm39) H662R possibly damaging Het
Ifne T C 4: 88,798,268 (GRCm39) Q50R probably benign Het
Kidins220 A G 12: 25,107,473 (GRCm39) D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 (GRCm39) D146V probably damaging Het
Krt36 T C 11: 99,993,774 (GRCm39) I355V probably damaging Het
Lrrcc1 T A 3: 14,601,188 (GRCm39) S73R possibly damaging Het
Ltbp3 A T 19: 5,804,047 (GRCm39) H853L probably benign Het
Map3k5 G A 10: 20,017,313 (GRCm39) R1369Q probably damaging Het
Mcm8 A G 2: 132,663,326 (GRCm39) N148S probably benign Het
Mylk3 A T 8: 86,082,155 (GRCm39) L211* probably null Het
Nras T C 3: 102,966,232 (GRCm39) probably benign Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Os9 A T 10: 126,956,378 (GRCm39) Y66N probably damaging Het
Pitpnm1 A G 19: 4,151,228 (GRCm39) D15G possibly damaging Het
Reg3a A T 6: 78,359,284 (GRCm39) R95* probably null Het
Rnf17 C T 14: 56,749,728 (GRCm39) P1425S probably damaging Het
Smad2 T C 18: 76,432,846 (GRCm39) probably benign Het
Ttll5 C T 12: 85,980,256 (GRCm39) Q76* probably null Het
Uri1 A T 7: 37,696,156 (GRCm39) probably benign Het
Vmn2r102 G T 17: 19,899,185 (GRCm39) probably null Het
Vmn2r70 T G 7: 85,213,007 (GRCm39) M467L probably benign Het
Zfp318 T A 17: 46,724,652 (GRCm39) D2218E possibly damaging Het
Zfp692 T C 11: 58,204,855 (GRCm39) I405T possibly damaging Het
Zfp692 A G 11: 58,200,824 (GRCm39) H235R possibly damaging Het
Other mutations in Or2n1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Or2n1c APN 17 38,519,388 (GRCm39) missense probably damaging 0.98
IGL01666:Or2n1c APN 17 38,519,780 (GRCm39) missense probably benign 0.11
IGL02096:Or2n1c APN 17 38,520,074 (GRCm39) makesense probably null
R0255:Or2n1c UTSW 17 38,519,286 (GRCm39) missense probably benign
R0630:Or2n1c UTSW 17 38,519,304 (GRCm39) missense probably damaging 0.97
R1185:Or2n1c UTSW 17 38,520,074 (GRCm39) makesense probably null
R1185:Or2n1c UTSW 17 38,520,074 (GRCm39) makesense probably null
R1185:Or2n1c UTSW 17 38,520,074 (GRCm39) makesense probably null
R1279:Or2n1c UTSW 17 38,519,678 (GRCm39) missense probably benign 0.01
R1878:Or2n1c UTSW 17 38,519,265 (GRCm39) missense probably benign 0.03
R1969:Or2n1c UTSW 17 38,519,355 (GRCm39) missense probably damaging 1.00
R2374:Or2n1c UTSW 17 38,519,958 (GRCm39) missense probably damaging 0.97
R3708:Or2n1c UTSW 17 38,519,174 (GRCm39) missense probably benign 0.01
R5025:Or2n1c UTSW 17 38,519,334 (GRCm39) missense probably damaging 1.00
R5093:Or2n1c UTSW 17 38,519,208 (GRCm39) missense possibly damaging 0.92
R5095:Or2n1c UTSW 17 38,519,208 (GRCm39) missense possibly damaging 0.92
R5103:Or2n1c UTSW 17 38,519,208 (GRCm39) missense possibly damaging 0.92
R5104:Or2n1c UTSW 17 38,519,208 (GRCm39) missense possibly damaging 0.92
R5105:Or2n1c UTSW 17 38,519,208 (GRCm39) missense possibly damaging 0.92
R5149:Or2n1c UTSW 17 38,519,208 (GRCm39) missense possibly damaging 0.92
R5150:Or2n1c UTSW 17 38,519,208 (GRCm39) missense possibly damaging 0.92
R5344:Or2n1c UTSW 17 38,519,995 (GRCm39) missense probably damaging 1.00
R6608:Or2n1c UTSW 17 38,519,370 (GRCm39) missense probably damaging 1.00
R7300:Or2n1c UTSW 17 38,519,588 (GRCm39) missense possibly damaging 0.76
R7324:Or2n1c UTSW 17 38,519,607 (GRCm39) missense probably benign
R7580:Or2n1c UTSW 17 38,519,934 (GRCm39) missense probably benign 0.11
R8062:Or2n1c UTSW 17 38,520,065 (GRCm39) missense probably benign 0.01
R8371:Or2n1c UTSW 17 38,519,189 (GRCm39) missense probably benign 0.01
R8984:Or2n1c UTSW 17 38,519,304 (GRCm39) missense probably damaging 0.97
R9002:Or2n1c UTSW 17 38,519,555 (GRCm39) missense probably benign 0.01
Posted On 2013-04-17