Incidental Mutation 'IGL03146:Or14a257'
ID 410928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14a257
Ensembl Gene ENSMUSG00000062878
Gene Name olfactory receptor family 14 subfamily A member 257
Synonyms GA_x6K02T2NHDJ-9619796-9620794, Olfr298, MOR219-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL03146
Quality Score
Status
Chromosome 7
Chromosomal Location 86137759-86138757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86138402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000150228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077800] [ENSMUST00000213223] [ENSMUST00000216968] [ENSMUST00000217110]
AlphaFold Q7TS06
Predicted Effect probably damaging
Transcript: ENSMUST00000077800
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: D119G

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 4.2e-37 PFAM
Pfam:7tm_1 39 288 8.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213223
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216968
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217110
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,294,519 (GRCm39) D360G probably damaging Het
Adam6a A T 12: 113,509,144 (GRCm39) T506S probably damaging Het
Adamts15 A G 9: 30,832,863 (GRCm39) V224A probably damaging Het
Arhgef12 G T 9: 42,885,866 (GRCm39) D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ccdc85c G A 12: 108,173,395 (GRCm39) R387* probably null Het
Cfap57 T A 4: 118,456,216 (GRCm39) I493F probably damaging Het
Chst9 A G 18: 15,586,035 (GRCm39) I176T probably damaging Het
Clpx G T 9: 65,234,112 (GRCm39) V572L probably benign Het
Csmd3 T A 15: 47,744,873 (GRCm39) N1374I probably benign Het
Cyp2e1 T A 7: 140,350,134 (GRCm39) M273K probably benign Het
Ehbp1l1 T C 19: 5,770,061 (GRCm39) E414G probably benign Het
Ehd1 T C 19: 6,327,368 (GRCm39) F122L probably damaging Het
Fcho1 A G 8: 72,170,074 (GRCm39) probably benign Het
Fermt3 T C 19: 6,980,631 (GRCm39) E312G possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 G A 5: 92,214,399 (GRCm39) R132C probably damaging Het
Inpp4b A T 8: 82,470,410 (GRCm39) I35F possibly damaging Het
Izumo3 T G 4: 92,033,276 (GRCm39) I107L probably damaging Het
Lama3 C A 18: 12,660,681 (GRCm39) Q484K possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mapkbp1 T C 2: 119,828,955 (GRCm39) probably benign Het
Mast4 T C 13: 102,874,163 (GRCm39) N1735S probably benign Het
Or4c100 T A 2: 88,356,488 (GRCm39) M187K possibly damaging Het
Oxct1 T C 15: 4,130,630 (GRCm39) L374P probably damaging Het
Parp14 G A 16: 35,678,823 (GRCm39) Q382* probably null Het
Pax2 A G 19: 44,821,714 (GRCm39) probably benign Het
Prkaa1 T C 15: 5,198,122 (GRCm39) V146A probably damaging Het
Ptprb C T 10: 116,164,032 (GRCm39) A900V probably benign Het
Rgs6 A T 12: 83,099,312 (GRCm39) D130V probably damaging Het
Ryr1 C A 7: 28,793,457 (GRCm39) R1344L probably benign Het
Scgb1b12 C A 7: 32,033,969 (GRCm39) D76E possibly damaging Het
Sel1l3 T A 5: 53,311,585 (GRCm39) E633D probably benign Het
Slc1a7 T A 4: 107,850,189 (GRCm39) I100N probably damaging Het
Slc25a35 A G 11: 68,859,678 (GRCm39) K64E possibly damaging Het
Spmip4 A T 6: 50,550,853 (GRCm39) V532E probably damaging Het
Stil C A 4: 114,881,612 (GRCm39) Q719K probably damaging Het
Stim1 T A 7: 102,070,562 (GRCm39) L265Q probably damaging Het
Tmem191 A G 16: 17,095,246 (GRCm39) E169G probably damaging Het
Tmem255b T C 8: 13,504,174 (GRCm39) L101P probably damaging Het
Trgv3 C A 13: 19,427,337 (GRCm39) Y73* probably null Het
Zfyve26 G A 12: 79,330,846 (GRCm39) Q458* probably null Het
Other mutations in Or14a257
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Or14a257 APN 7 86,138,765 (GRCm39) utr 5 prime probably benign
IGL01603:Or14a257 APN 7 86,138,139 (GRCm39) missense possibly damaging 0.92
IGL02389:Or14a257 APN 7 86,138,336 (GRCm39) missense probably damaging 0.98
R0680:Or14a257 UTSW 7 86,138,545 (GRCm39) missense probably benign
R0834:Or14a257 UTSW 7 86,138,698 (GRCm39) missense probably benign 0.11
R1132:Or14a257 UTSW 7 86,138,425 (GRCm39) missense probably benign 0.03
R1519:Or14a257 UTSW 7 86,138,333 (GRCm39) missense probably damaging 0.99
R1881:Or14a257 UTSW 7 86,138,646 (GRCm39) missense probably benign 0.01
R2170:Or14a257 UTSW 7 86,137,778 (GRCm39) missense probably benign 0.03
R4500:Or14a257 UTSW 7 86,138,127 (GRCm39) missense probably benign 0.00
R4524:Or14a257 UTSW 7 86,138,034 (GRCm39) missense probably damaging 1.00
R5184:Or14a257 UTSW 7 86,138,499 (GRCm39) frame shift probably null
R5521:Or14a257 UTSW 7 86,137,839 (GRCm39) missense probably benign 0.08
R7448:Or14a257 UTSW 7 86,138,417 (GRCm39) missense probably damaging 1.00
R7643:Or14a257 UTSW 7 86,138,776 (GRCm39) critical splice acceptor site probably null
R7688:Or14a257 UTSW 7 86,138,183 (GRCm39) missense probably benign 0.01
R8104:Or14a257 UTSW 7 86,138,231 (GRCm39) missense probably damaging 1.00
R8732:Or14a257 UTSW 7 86,138,061 (GRCm39) missense probably damaging 0.96
R8973:Or14a257 UTSW 7 86,138,487 (GRCm39) missense probably damaging 1.00
R9235:Or14a257 UTSW 7 86,138,306 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02