Incidental Mutation 'IGL01331:Olfr1054'
ID74518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1054
Ensembl Gene ENSMUSG00000075190
Gene Nameolfactory receptor 1054
SynonymsGA_x6K02T2Q125-47811880-47810942, MOR188-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL01331
Quality Score
Status
Chromosome2
Chromosomal Location86332135-86335433 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to C at 86332704 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 217 (Y217*)
Ref Sequence ENSEMBL: ENSMUSP00000150810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099895] [ENSMUST00000213205]
Predicted Effect probably null
Transcript: ENSMUST00000099895
AA Change: Y217*
SMART Domains Protein: ENSMUSP00000097480
Gene: ENSMUSG00000075190
AA Change: Y217*

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.8e-49 PFAM
Pfam:7tm_1 41 289 5.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122018
Predicted Effect probably null
Transcript: ENSMUST00000213205
AA Change: Y217*
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca3a1 G A 3: 144,747,512 T517M probably damaging Het
Clec4g T C 8: 3,717,190 probably benign Het
Cmya5 C T 13: 93,096,946 E545K possibly damaging Het
Cntn6 A T 6: 104,774,523 D380V probably damaging Het
Col9a2 C T 4: 121,045,192 P209S possibly damaging Het
Cyp2b9 T C 7: 26,187,715 V183A probably damaging Het
Dpt T C 1: 164,796,810 Y27H unknown Het
Dusp16 T C 6: 134,718,104 Q588R possibly damaging Het
Dusp27 C A 1: 166,108,180 V150L probably damaging Het
Emg1 A G 6: 124,705,070 S164P probably benign Het
Foxk1 G A 5: 142,453,589 R428Q probably damaging Het
Frmd4a T A 2: 4,602,225 M667K probably benign Het
Gpr55 T A 1: 85,941,193 probably benign Het
Gtpbp8 A G 16: 44,740,131 I162T probably benign Het
Ighv1-59 C T 12: 115,335,372 V21I possibly damaging Het
Ipo11 T A 13: 106,795,746 Y938F possibly damaging Het
Map4 G T 9: 110,034,801 V365L probably benign Het
Mboat1 C A 13: 30,219,701 probably benign Het
Med12 A G X: 101,280,754 E649G possibly damaging Het
Nfkbie T C 17: 45,558,569 V150A probably benign Het
Olfr632 A G 7: 103,937,575 Y65C possibly damaging Het
Prdm1 T A 10: 44,441,974 K299N possibly damaging Het
Ribc1 T C X: 152,005,106 T291A probably benign Het
Rps6kc1 G T 1: 190,800,352 N484K possibly damaging Het
Serpina3k C A 12: 104,343,110 A271D probably benign Het
Spata18 G T 5: 73,669,681 R321L probably damaging Het
Syne2 C A 12: 75,929,253 probably benign Het
Syt17 T A 7: 118,408,166 I302F probably damaging Het
Tgm6 A G 2: 130,143,618 probably null Het
Tmc2 A G 2: 130,232,356 Y323C probably damaging Het
Tnc T C 4: 63,982,875 D1452G probably damaging Het
Ttn A G 2: 76,789,678 I7555T probably damaging Het
Ugt2b36 A T 5: 87,090,942 W131R probably damaging Het
Vmn2r75 A T 7: 86,171,662 C21* probably null Het
Zfp592 T A 7: 81,041,548 C1158* probably null Het
Other mutations in Olfr1054
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02266:Olfr1054 APN 2 86332979 missense probably damaging 0.98
IGL02398:Olfr1054 APN 2 86332524 nonsense probably null
IGL02535:Olfr1054 APN 2 86332675 missense probably damaging 1.00
IGL02590:Olfr1054 APN 2 86333000 missense possibly damaging 0.52
IGL02630:Olfr1054 APN 2 86332868 missense probably benign 0.39
PIT4151001:Olfr1054 UTSW 2 86332829 missense possibly damaging 0.60
R0520:Olfr1054 UTSW 2 86333131 missense probably damaging 1.00
R1079:Olfr1054 UTSW 2 86332841 missense probably damaging 0.96
R1887:Olfr1054 UTSW 2 86333273 missense possibly damaging 0.90
R2037:Olfr1054 UTSW 2 86332430 missense probably benign 0.03
R2120:Olfr1054 UTSW 2 86333345 missense probably benign 0.00
R2153:Olfr1054 UTSW 2 86332528 missense probably damaging 1.00
R4523:Olfr1054 UTSW 2 86333300 missense probably benign 0.12
R4836:Olfr1054 UTSW 2 86333227 missense probably benign 0.12
R6147:Olfr1054 UTSW 2 86332500 missense probably damaging 1.00
R6802:Olfr1054 UTSW 2 86333185 missense possibly damaging 0.91
R6886:Olfr1054 UTSW 2 86333064 nonsense probably null
R6894:Olfr1054 UTSW 2 86332951 missense probably damaging 1.00
R7275:Olfr1054 UTSW 2 86332792 missense possibly damaging 0.91
R7322:Olfr1054 UTSW 2 86332564 missense probably benign 0.14
R7325:Olfr1054 UTSW 2 86333000 missense possibly damaging 0.52
R7526:Olfr1054 UTSW 2 86333353 start codon destroyed probably null 1.00
R7976:Olfr1054 UTSW 2 86332720 missense probably benign 0.05
R8421:Olfr1054 UTSW 2 86332903 missense possibly damaging 0.80
R8838:Olfr1054 UTSW 2 86332973 missense possibly damaging 0.61
Z1176:Olfr1054 UTSW 2 86332706 missense probably damaging 1.00
Posted On2013-10-07