Incidental Mutation 'IGL02102:Or14a259'
ID 279784
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 # IGL02102
Quality Score
Status
Chromosome 7
Chromosomal Location 86012584-86013543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86013074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 157 (Y157C)
Ref Sequence ENSEMBL: ENSMUSP00000149883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069236] [ENSMUST00000213255] [ENSMUST00000213869] [ENSMUST00000216700]
AlphaFold Q7TS02
Predicted Effect probably benign
Transcript: ENSMUST00000069236
AA Change: Y157C

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: Y157C

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-40 PFAM
Pfam:7tm_1 39 288 3.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213255
AA Change: Y157C

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000213869
AA Change: Y157C

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000216700
AA Change: Y157C

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,754,420 (GRCm39) T1338A probably benign Het
Adcy3 G A 12: 4,184,699 (GRCm39) C125Y probably damaging Het
Aoc1 A T 6: 48,882,896 (GRCm39) K257N probably damaging Het
Apob T C 12: 8,039,407 (GRCm39) V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 (GRCm39) V684D probably benign Het
AW551984 A G 9: 39,500,987 (GRCm39) W763R probably damaging Het
Blm G A 7: 80,119,504 (GRCm39) T1026M probably damaging Het
Cd160 A G 3: 96,712,886 (GRCm39) I126T possibly damaging Het
Cdk14 T C 5: 5,430,083 (GRCm39) K15E probably benign Het
Cnot6l T C 5: 96,239,518 (GRCm39) K261R probably damaging Het
Cyp3a13 T G 5: 137,909,865 (GRCm39) T153P probably benign Het
Ddx24 A G 12: 103,374,743 (GRCm39) probably benign Het
Dido1 G A 2: 180,304,040 (GRCm39) T1288I possibly damaging Het
Dnajc13 A G 9: 104,106,208 (GRCm39) V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dsg1a A G 18: 20,465,089 (GRCm39) N427D probably benign Het
Gabrq T G X: 71,871,151 (GRCm39) probably null Het
Glce A G 9: 61,977,883 (GRCm39) probably benign Het
Gm10477 T C X: 55,570,761 (GRCm39) L45P probably damaging Het
Htt T A 5: 35,048,825 (GRCm39) probably benign Het
Ift140 A G 17: 25,252,104 (GRCm39) E317G probably benign Het
Jak1 A G 4: 101,016,283 (GRCm39) M827T probably benign Het
Kalrn A G 16: 34,040,592 (GRCm39) V932A probably damaging Het
Mdm2 A C 10: 117,528,622 (GRCm39) S227R possibly damaging Het
Or4c111 A G 2: 88,843,470 (GRCm39) probably benign Het
Or5ak25 A G 2: 85,268,611 (GRCm39) V297A probably damaging Het
Or5g27 G A 2: 85,410,017 (GRCm39) V145I probably damaging Het
Or5w22 T C 2: 87,362,805 (GRCm39) F143L probably benign Het
Pdilt T G 7: 119,086,173 (GRCm39) E514A probably benign Het
Pepd A G 7: 34,645,028 (GRCm39) D153G probably damaging Het
Ptgis A T 2: 167,067,367 (GRCm39) V70E probably damaging Het
Rnf112 T C 11: 61,342,841 (GRCm39) K262E probably benign Het
Setd5 G T 6: 113,127,946 (GRCm39) G1300* probably null Het
Snx15 A G 19: 6,172,104 (GRCm39) L113P possibly damaging Het
Sptbn1 T C 11: 30,087,427 (GRCm39) D1004G probably damaging Het
Ston2 A C 12: 91,606,498 (GRCm39) *896G probably null Het
Suco A G 1: 161,655,274 (GRCm39) S1073P probably damaging Het
Susd1 A C 4: 59,369,636 (GRCm39) D344E possibly damaging Het
Trnt1 G T 6: 106,755,073 (GRCm39) probably null Het
Ttll12 A G 15: 83,466,264 (GRCm39) F399S probably damaging Het
Vmn1r124 C T 7: 20,994,467 (GRCm39) V26I probably benign Het
Vmn1r52 T A 6: 90,156,189 (GRCm39) N164K possibly damaging Het
Vmn1r56 A T 7: 5,199,335 (GRCm39) M94K possibly damaging Het
Vmn1r80 T C 7: 11,927,618 (GRCm39) F243L probably damaging Het
Zdhhc8 G A 16: 18,043,063 (GRCm39) S379F possibly damaging Het
Other mutations in Or14a259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Or14a259 APN 7 86,012,768 (GRCm39) missense possibly damaging 0.46
IGL02424:Or14a259 APN 7 86,012,688 (GRCm39) missense probably benign 0.02
IGL02664:Or14a259 APN 7 86,012,811 (GRCm39) missense possibly damaging 0.94
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