Incidental Mutation 'IGL02389:Or14a257'
ID 291674
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: 0.119) question?
Stock # IGL02389
Quality Score
Chromosome 7
Chromosomal Location 86137759-86138757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86138336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 141 (L141P)
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: L141P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: L141P

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: L141P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216968
AA Change: L141P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217110
AA Change: L141P

PolyPhen 2 Score 0.975 (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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging 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
IGL03146:Or14a257 APN 7 86,138,402 (GRCm39) missense probably damaging 1.00
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 2015-04-16