Incidental Mutation 'IGL02664:Or14a259'
ID 302651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14a259
Ensembl Gene ENSMUSG00000055571
Gene Name olfactory receptor family 14 subfamily A member 259
Synonyms GA_x6K02T2NHDJ-9744055-9745014, Olfr305, MOR219-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL02664
Quality Score
Status
Chromosome 7
Chromosomal Location 86012584-86013543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86012811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 245 (V245I)
Ref Sequence ENSEMBL: ENSMUSP00000149883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069236] [ENSMUST00000213255] [ENSMUST00000213869] [ENSMUST00000216700]
AlphaFold Q7TS02
Predicted Effect possibly damaging
Transcript: ENSMUST00000069236
AA Change: V245I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: V245I

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-40 PFAM
Pfam:7tm_1 39 288 3.3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213255
AA Change: V245I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213869
AA Change: V245I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216700
AA Change: V245I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 36,006,860 (GRCm39) D425V probably damaging Het
Afdn G T 17: 14,072,728 (GRCm39) probably benign Het
Afg2a A G 3: 37,490,814 (GRCm39) D453G probably damaging Het
Ap2a2 C T 7: 141,209,136 (GRCm39) T776I probably benign Het
Apcdd1 T C 18: 63,084,891 (GRCm39) probably benign Het
Bdp1 A T 13: 100,188,047 (GRCm39) Y1513N probably benign Het
Btaf1 T C 19: 36,955,828 (GRCm39) probably benign Het
C2cd3 A T 7: 100,068,922 (GRCm39) M917L possibly damaging Het
Cmtm6 T C 9: 114,575,613 (GRCm39) V174A probably benign Het
Cyp2d12 T A 15: 82,443,535 (GRCm39) I448K probably benign Het
Ddb1 A G 19: 10,585,247 (GRCm39) I101V probably benign Het
Dicer1 A G 12: 104,671,388 (GRCm39) Y961H probably damaging Het
Dnaaf1 T G 8: 120,309,260 (GRCm39) I116S probably damaging Het
Ecscr T A 18: 35,854,451 (GRCm39) I5F possibly damaging Het
Eftud2 T C 11: 102,732,538 (GRCm39) E691G probably damaging Het
Fat2 A G 11: 55,201,922 (GRCm39) V384A probably damaging Het
Ftcd T C 10: 76,420,439 (GRCm39) M391T probably damaging Het
Gab2 T G 7: 96,953,389 (GRCm39) S587R probably damaging Het
Gm18856 G A 13: 14,139,809 (GRCm39) probably benign Het
Herc2 A T 7: 55,785,426 (GRCm39) R1559* probably null Het
Inpp5f G A 7: 128,265,738 (GRCm39) R161H probably damaging Het
Iws1 A T 18: 32,203,217 (GRCm39) D31V possibly damaging Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
Lce6a A T 3: 92,527,607 (GRCm39) C67S possibly damaging Het
Lrba A G 3: 86,233,038 (GRCm39) I800V possibly damaging Het
Mis18bp1 A C 12: 65,200,654 (GRCm39) Y407* probably null Het
Mllt3 A C 4: 87,949,860 (GRCm39) W29G probably damaging Het
Mon2 A G 10: 122,845,401 (GRCm39) probably benign Het
Mtbp C T 15: 55,483,039 (GRCm39) T372M probably benign Het
Nefm A T 14: 68,357,664 (GRCm39) probably benign Het
Nf1 A T 11: 79,335,424 (GRCm39) probably null Het
Nf1 G A 11: 79,335,425 (GRCm39) probably null Het
Ntn1 T A 11: 68,276,295 (GRCm39) I218F probably benign Het
Numa1 T G 7: 101,648,109 (GRCm39) S613R possibly damaging Het
Pcsk5 A T 19: 17,434,134 (GRCm39) D1411E probably damaging Het
Prl2b1 G T 13: 27,569,225 (GRCm39) N124K possibly damaging Het
Rab15 T C 12: 76,851,225 (GRCm39) I30M possibly damaging Het
Rnf215 G T 11: 4,090,307 (GRCm39) V342L probably damaging Het
Saxo4 A T 19: 10,459,655 (GRCm39) S17R probably damaging Het
Togaram2 T A 17: 72,036,234 (GRCm39) I908N probably damaging Het
Trim54 A G 5: 31,293,391 (GRCm39) N205S probably damaging Het
Ttn G A 2: 76,697,795 (GRCm39) T80I possibly damaging Het
Vmn2r106 G A 17: 20,488,344 (GRCm39) T685I possibly damaging Het
Vwa5b2 T C 16: 20,414,063 (GRCm39) probably benign Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp40 G A 17: 23,395,960 (GRCm39) S209F probably benign Het
Other mutations in Or14a259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Or14a259 APN 7 86,012,768 (GRCm39) missense possibly damaging 0.46
IGL02102:Or14a259 APN 7 86,013,074 (GRCm39) missense probably benign 0.25
IGL02424:Or14a259 APN 7 86,012,688 (GRCm39) missense probably benign 0.02
IGL03167:Or14a259 APN 7 86,013,128 (GRCm39) missense probably damaging 1.00
R0035:Or14a259 UTSW 7 86,013,395 (GRCm39) missense possibly damaging 0.95
R0373:Or14a259 UTSW 7 86,013,013 (GRCm39) nonsense probably null
R0510:Or14a259 UTSW 7 86,013,035 (GRCm39) missense probably benign 0.21
R2214:Or14a259 UTSW 7 86,013,414 (GRCm39) missense probably benign 0.01
R3147:Or14a259 UTSW 7 86,013,092 (GRCm39) missense probably benign 0.01
R3623:Or14a259 UTSW 7 86,013,308 (GRCm39) missense probably benign 0.02
R4155:Or14a259 UTSW 7 86,013,270 (GRCm39) missense probably benign 0.00
R4332:Or14a259 UTSW 7 86,013,080 (GRCm39) missense probably benign 0.01
R4785:Or14a259 UTSW 7 86,012,943 (GRCm39) missense probably damaging 1.00
R4834:Or14a259 UTSW 7 86,012,952 (GRCm39) missense probably benign 0.21
R4871:Or14a259 UTSW 7 86,012,692 (GRCm39) missense probably damaging 1.00
R5161:Or14a259 UTSW 7 86,013,546 (GRCm39) splice site probably null
R5254:Or14a259 UTSW 7 86,013,398 (GRCm39) missense possibly damaging 0.82
R6430:Or14a259 UTSW 7 86,013,181 (GRCm39) nonsense probably null
R7734:Or14a259 UTSW 7 86,013,476 (GRCm39) missense not run
R8520:Or14a259 UTSW 7 86,013,471 (GRCm39) missense probably benign 0.00
R8682:Or14a259 UTSW 7 86,013,373 (GRCm39) missense probably damaging 0.99
R9407:Or14a259 UTSW 7 86,013,194 (GRCm39) nonsense probably null
R9728:Or14a259 UTSW 7 86,012,771 (GRCm39) missense probably damaging 1.00
RF010:Or14a259 UTSW 7 86,012,594 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16