Incidental Mutation 'IGL01598:Olfr1454'
ID91730
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: 0.083) question?
Stock #IGL01598
Quality Score
Status
Chromosome19
Chromosomal Location13060610-13067157 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13064149 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 246 (V246A)
Ref Sequence ENSEMBL: ENSMUSP00000148859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073732] [ENSMUST00000213806] [ENSMUST00000214695] [ENSMUST00000217568]
Predicted Effect probably damaging
Transcript: ENSMUST00000073732
AA Change: V246A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073409
Gene: ENSMUSG00000094986
AA Change: V246A

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 damaging
Transcript: ENSMUST00000213806
AA Change: V246A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214695
AA Change: V246A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217568
AA Change: V246A

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410124H12Rik T A 16: 92,478,929 noncoding transcript Het
Apc2 T A 10: 80,313,048 L1283Q probably damaging Het
Apol6 G A 15: 77,050,716 A62T probably damaging Het
AU018091 A T 7: 3,162,270 I204N possibly damaging Het
B4galnt4 G T 7: 141,070,515 R765L probably benign Het
Brca1 T C 11: 101,524,330 T993A probably benign Het
Cadps C T 14: 12,522,202 probably null Het
Ccdc177 A G 12: 80,758,745 S252P unknown Het
Cdc73 A G 1: 143,699,279 S59P probably damaging Het
Cep63 G T 9: 102,590,458 Q570K possibly damaging Het
Ces1c A T 8: 93,118,413 I120K probably benign Het
Cpeb1 T C 7: 81,361,801 M131V probably benign Het
Dync1h1 G A 12: 110,658,128 V3701I probably damaging Het
Fxr1 T C 3: 34,064,232 S535P possibly damaging Het
Gldc A T 19: 30,133,756 V540D probably damaging Het
Iqcf6 A G 9: 106,627,508 T124A probably benign Het
Itih4 A G 14: 30,887,817 I35V possibly damaging Het
Kmt2c A T 5: 25,354,771 V963E probably damaging Het
Kmt2c T C 5: 25,273,666 *1525W probably null Het
Lmnb2 T C 10: 80,907,165 S202G probably benign Het
Med23 T G 10: 24,903,798 S924R probably benign Het
Pcif1 T C 2: 164,886,611 F263L possibly damaging Het
Pon2 A T 6: 5,272,331 L163H probably damaging Het
Scn1a C T 2: 66,302,485 V165M possibly damaging Het
Sema6d C A 2: 124,665,098 P961Q probably damaging Het
Snx27 A G 3: 94,561,843 Y64H probably damaging Het
Srsf11 C T 3: 158,012,035 probably benign Het
Taok1 A G 11: 77,571,684 V193A probably damaging Het
Vps13d T C 4: 145,016,901 T4137A probably benign Het
Zbtb26 T C 2: 37,436,271 Y251C probably damaging Het
Zcchc11 A G 4: 108,550,820 probably benign Het
Other mutations in Olfr1454
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02942:Olfr1454 APN 19 13064188 missense probably benign 0.45
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 On2013-12-09