Incidental Mutation 'IGL02942:Olfr1454'
ID364528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1454
Ensembl Gene ENSMUSG00000094986
Gene Nameolfactory receptor 1454
SynonymsMOR202-14, GA_x6K02T2RE5P-3390804-3391727
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02942
Quality Score
Status
Chromosome19
Chromosomal Location13060610-13067157 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13064188 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 259 (Q259L)
Ref Sequence ENSEMBL: ENSMUSP00000148859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073732] [ENSMUST00000213806] [ENSMUST00000214695] [ENSMUST00000217568]
Predicted Effect probably benign
Transcript: ENSMUST00000073732
AA Change: Q259L

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073409
Gene: ENSMUSG00000094986
AA Change: Q259L

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.1e-50 PFAM
Pfam:7tm_1 39 288 2.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208608
Predicted Effect probably benign
Transcript: ENSMUST00000213806
AA Change: Q259L

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000214695
AA Change: Q259L

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000217568
AA Change: Q259L

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A C 15: 91,149,175 D679E probably damaging Het
Adh6a A T 3: 138,324,881 D88V probably damaging Het
Ank3 G A 10: 69,973,877 V1123I probably damaging Het
Apba1 T C 19: 23,944,971 V801A possibly damaging Het
Bcl2a1a C T 9: 88,957,042 probably benign Het
Brd8 A G 18: 34,610,627 V215A possibly damaging Het
Cdk17 G A 10: 93,238,968 V454I probably benign Het
Chd5 G A 4: 152,385,725 G1876D probably damaging Het
Clec4g T C 8: 3,718,356 E125G probably damaging Het
Col24a1 G A 3: 145,541,665 G1602D probably damaging Het
Depdc7 A C 2: 104,728,094 L194R probably damaging Het
Dgke T G 11: 89,055,369 N202H probably benign Het
Dkk2 T A 3: 132,178,037 C233S probably damaging Het
Dmpk A C 7: 19,092,241 D542A probably damaging Het
Epb41l4a G A 18: 33,874,201 R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 Q1438L probably damaging Het
Gcgr A G 11: 120,536,817 probably null Het
Gm10295 T C 7: 71,350,502 K110R unknown Het
Ifrd1 A G 12: 40,217,376 probably null Het
Inpp5f A G 7: 128,694,900 T365A probably benign Het
Kcnn3 A G 3: 89,652,076 K551R probably benign Het
Lama2 A T 10: 27,041,220 N2236K probably damaging Het
Larp7 A T 3: 127,544,195 I405N possibly damaging Het
Meltf C A 16: 31,890,778 Y432* probably null Het
Mst1r C A 9: 107,913,153 T655K possibly damaging Het
Myh1 C T 11: 67,202,482 P133L probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr2 A G 7: 107,001,354 S169P possibly damaging Het
Olfr584 A T 7: 103,086,198 M222L probably benign Het
Pfkl A T 10: 78,000,133 probably null Het
Plekhb2 T C 1: 34,876,992 M204T probably damaging Het
Ptp4a2 G A 4: 129,845,193 probably null Het
Rtp4 A G 16: 23,612,954 T79A probably benign Het
Senp3 T C 11: 69,677,989 D410G probably benign Het
Slc16a5 T C 11: 115,469,350 F120L possibly damaging Het
Snrpe T C 1: 133,608,931 E37G probably damaging Het
Sorcs1 T C 19: 50,475,437 T192A probably damaging Het
Spef2 T A 15: 9,668,874 H742L possibly damaging Het
Syt12 T C 19: 4,447,830 S375G probably benign Het
Tas2r117 T C 6: 132,803,694 L265P probably benign Het
Tcp10a T A 17: 7,329,919 D158E probably damaging Het
Tesk2 A T 4: 116,771,820 H122L probably damaging Het
Unc93b1 T A 19: 3,948,686 M535K probably damaging Het
Vangl1 C A 3: 102,184,031 R246S probably damaging Het
Xpo5 C T 17: 46,208,133 T166I probably damaging Het
Zcchc6 T G 13: 59,811,521 N378H probably damaging Het
Zmiz2 T C 11: 6,399,500 probably benign Het
Other mutations in Olfr1454
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Olfr1454 APN 19 13064149 missense probably damaging 1.00
IGL03331:Olfr1454 APN 19 13063867 missense probably damaging 1.00
R0551:Olfr1454 UTSW 19 13064294 missense probably benign 0.01
R0738:Olfr1454 UTSW 19 13063738 missense probably damaging 1.00
R1532:Olfr1454 UTSW 19 13064275 missense probably damaging 1.00
R2072:Olfr1454 UTSW 19 13063680 missense probably benign 0.00
R2092:Olfr1454 UTSW 19 13063802 nonsense probably null
R2656:Olfr1454 UTSW 19 13063984 missense probably benign 0.05
R2850:Olfr1454 UTSW 19 13063570 missense probably damaging 1.00
R4212:Olfr1454 UTSW 19 13063759 missense probably damaging 0.98
R5303:Olfr1454 UTSW 19 13063775 nonsense probably null
R6362:Olfr1454 UTSW 19 13063345 start gained probably benign
R6928:Olfr1454 UTSW 19 13063984 missense probably benign 0.05
R7183:Olfr1454 UTSW 19 13064316 missense probably benign 0.00
R7701:Olfr1454 UTSW 19 13064081 missense probably damaging 1.00
R7741:Olfr1454 UTSW 19 13064059 missense probably damaging 0.98
R8057:Olfr1454 UTSW 19 13063274 start gained probably benign
Z1176:Olfr1454 UTSW 19 13063646 missense probably benign 0.15
Posted On2015-12-18