Incidental Mutation 'IGL03059:Or14c41'
ID 409356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14c41
Ensembl Gene ENSMUSG00000059319
Gene Name olfactory receptor family 14 subfamily C member 41
Synonyms Olfr295, GA_x6K02T2NHDJ-9539243-9538314, MOR220-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL03059
Quality Score
Status
Chromosome 7
Chromosomal Location 86234485-86235414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86234779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 99 (I99V)
Ref Sequence ENSEMBL: ENSMUSP00000150377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078447] [ENSMUST00000172965] [ENSMUST00000215365]
AlphaFold Q7TS08
Predicted Effect probably benign
Transcript: ENSMUST00000078447
AA Change: I99V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077542
Gene: ENSMUSG00000059319
AA Change: I99V

DomainStartEndE-ValueType
Pfam:7tm_1 39 288 6.1e-26 PFAM
Pfam:7tm_4 137 281 2.2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172965
AA Change: I99V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134371
Gene: ENSMUSG00000057067
AA Change: I99V

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 1.2e-46 PFAM
Pfam:7tm_1 39 288 2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215365
AA Change: I99V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,717,755 (GRCm39) V244A possibly damaging Het
Aoc1l3 A T 6: 48,964,349 (GRCm39) Y119F probably benign Het
Ccdc187 C A 2: 26,184,253 (GRCm39) R48M probably null Het
Cnga2 G A X: 71,051,878 (GRCm39) R251H probably damaging Het
Cop1 A C 1: 159,134,279 (GRCm39) K174Q probably damaging Het
Cul9 T C 17: 46,849,913 (GRCm39) D512G probably damaging Het
Flt4 G A 11: 49,533,134 (GRCm39) A1140T probably damaging Het
Galnt3 C T 2: 65,923,954 (GRCm39) R438H probably damaging Het
Gatm G A 2: 122,440,181 (GRCm39) A86V probably damaging Het
Klhl28 C T 12: 64,998,340 (GRCm39) A385T probably benign Het
Klhl40 T A 9: 121,607,203 (GRCm39) V121E probably damaging Het
L1cam T A X: 72,910,630 (GRCm39) H30L probably benign Het
Lss A T 10: 76,367,860 (GRCm39) probably benign Het
Mrnip A T 11: 50,090,596 (GRCm39) Q253H probably damaging Het
Mroh9 A T 1: 162,852,205 (GRCm39) F828Y possibly damaging Het
Mst1 T C 9: 107,962,012 (GRCm39) C668R probably damaging Het
Nadk A G 4: 155,671,253 (GRCm39) E143G probably benign Het
Nap1l4 C T 7: 143,080,902 (GRCm39) probably null Het
Nme8 A G 13: 19,836,414 (GRCm39) I254T possibly damaging Het
Or1ab2 T A 8: 72,863,842 (GRCm39) L144Q probably damaging Het
Or2y12 A G 11: 49,426,021 (GRCm39) Y3C probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkd1l3 C T 8: 110,374,999 (GRCm39) L1491F probably damaging Het
Plec G T 15: 76,059,968 (GRCm39) T3488N probably damaging Het
Plk2 T G 13: 110,535,668 (GRCm39) S497A probably benign Het
Polr1a G A 6: 71,913,496 (GRCm39) V617I probably benign Het
Prelid3a C A 18: 67,609,909 (GRCm39) Y112* probably null Het
Rnf113a2 C A 12: 84,464,250 (GRCm39) S47R possibly damaging Het
Rtel1 A G 2: 180,991,976 (GRCm39) N410D probably benign Het
Ryr3 C T 2: 112,630,392 (GRCm39) A2140T probably damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Sphkap T A 1: 83,234,963 (GRCm39) Q1621L probably damaging Het
Trgc1 A T 13: 19,400,072 (GRCm39) K123* probably null Het
Ttn T A 2: 76,739,863 (GRCm39) S3559C probably benign Het
Ubr4 C T 4: 139,207,987 (GRCm39) R4923W probably damaging Het
Vac14 T C 8: 111,437,084 (GRCm39) L599P probably damaging Het
Wdr5 T C 2: 27,409,746 (GRCm39) probably benign Het
Other mutations in Or14c41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Or14c41 APN 7 86,234,647 (GRCm39) missense possibly damaging 0.91
IGL02248:Or14c41 APN 7 86,235,312 (GRCm39) nonsense probably null
IGL02309:Or14c41 APN 7 86,234,705 (GRCm39) missense possibly damaging 0.84
IGL02866:Or14c41 APN 7 86,234,901 (GRCm39) nonsense probably null
IGL03134:Or14c41 UTSW 7 86,235,220 (GRCm39) missense probably damaging 0.99
R1311:Or14c41 UTSW 7 86,235,161 (GRCm39) missense probably damaging 0.96
R1777:Or14c41 UTSW 7 86,235,272 (GRCm39) missense probably benign
R2259:Or14c41 UTSW 7 86,235,092 (GRCm39) missense possibly damaging 0.80
R2379:Or14c41 UTSW 7 86,235,400 (GRCm39) missense probably benign
R5944:Or14c41 UTSW 7 86,234,486 (GRCm39) start codon destroyed probably null 1.00
R6213:Or14c41 UTSW 7 86,234,485 (GRCm39) start codon destroyed probably null 1.00
R6241:Or14c41 UTSW 7 86,235,245 (GRCm39) missense probably benign 0.35
R8730:Or14c41 UTSW 7 86,235,259 (GRCm39) missense probably benign 0.20
R9316:Or14c41 UTSW 7 86,235,134 (GRCm39) missense probably benign 0.00
R9461:Or14c41 UTSW 7 86,235,247 (GRCm39) missense possibly damaging 0.79
Posted On 2016-08-02