Incidental Mutation 'IGL02995:Olfr323'
ID407097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr323
Ensembl Gene ENSMUSG00000043880
Gene Nameolfactory receptor 323
SynonymsMOR107-1, GA_x6K02T2NKPP-794386-795357
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02995
Quality Score
Status
Chromosome11
Chromosomal Location58624159-58630501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58625281 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 255 (M255T)
Ref Sequence ENSEMBL: ENSMUSP00000151137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070804] [ENSMUST00000203173] [ENSMUST00000214132]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070804
AA Change: M255T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068147
Gene: ENSMUSG00000043880
AA Change: M255T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.4e-54 PFAM
Pfam:7tm_1 41 290 3.7e-21 PFAM
Predicted Effect silent
Transcript: ENSMUST00000203173
SMART Domains Protein: ENSMUSP00000145459
Gene: ENSMUSG00000043880

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000214132
AA Change: M255T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,163,288 V175A probably benign Het
Adam19 G A 11: 46,136,349 R603Q probably benign Het
Adam25 T C 8: 40,753,723 S9P probably benign Het
Akr1e1 T A 13: 4,597,478 probably benign Het
Ano8 C T 8: 71,483,117 V286I possibly damaging Het
Baz1a C T 12: 54,900,447 R1139H probably damaging Het
Brca2 T A 5: 150,529,488 L29H probably damaging Het
Btaf1 T C 19: 36,981,135 probably benign Het
C8b T A 4: 104,801,328 probably benign Het
Cep295 A T 9: 15,333,312 S1283T probably damaging Het
Cyp1a2 T C 9: 57,677,228 *514W probably null Het
D2hgdh G T 1: 93,829,836 D158Y probably damaging Het
Dennd1b G A 1: 139,081,242 V228M probably damaging Het
Fgd6 T A 10: 94,045,480 L732* probably null Het
Gm21969 G A 4: 139,607,698 G348S probably benign Het
Gprc6a C T 10: 51,626,799 V323M probably damaging Het
Gzme T A 14: 56,118,709 M111L probably damaging Het
Iars2 G T 1: 185,303,301 Q581K probably benign Het
Klra17 A T 6: 129,868,684 probably null Het
Klra5 A T 6: 129,906,614 D93E possibly damaging Het
Lats2 T C 14: 57,700,348 Y228C probably damaging Het
Lrrn3 T C 12: 41,452,217 I700M probably damaging Het
Ltb A T 17: 35,195,372 probably benign Het
Myo18b T C 5: 112,775,413 probably benign Het
Olfr103 A T 17: 37,336,709 H174Q probably damaging Het
Olfr346 C T 2: 36,688,632 P210L possibly damaging Het
Olfr395 G A 11: 73,907,219 T91M possibly damaging Het
Olfr518 T A 7: 108,880,991 E205V probably damaging Het
Pgap1 A C 1: 54,493,350 I670S probably benign Het
Plxna4 A T 6: 32,516,595 I362N probably damaging Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Prr27 T C 5: 87,842,816 S96P probably benign Het
Psip1 T A 4: 83,463,717 probably benign Het
Rgs3 T A 4: 62,625,847 H285Q possibly damaging Het
Ror1 T C 4: 100,334,525 probably benign Het
Rps6ka5 C A 12: 100,573,999 probably benign Het
Sipa1l1 T A 12: 82,357,331 Y533N probably benign Het
Snx6 T C 12: 54,795,510 probably benign Het
Tbc1d9 T A 8: 83,269,059 probably null Het
Tek T C 4: 94,739,640 probably benign Het
Tor2a T A 2: 32,761,497 H241Q possibly damaging Het
Wnt5a A T 14: 28,522,914 I353F probably benign Het
Other mutations in Olfr323
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03118:Olfr323 APN 11 58625443 missense probably damaging 0.99
R0058:Olfr323 UTSW 11 58625668 missense probably damaging 1.00
R0335:Olfr323 UTSW 11 58625740 missense probably damaging 1.00
R1127:Olfr323 UTSW 11 58625458 missense probably damaging 0.98
R2029:Olfr323 UTSW 11 58625493 missense probably damaging 1.00
R2434:Olfr323 UTSW 11 58625111 missense possibly damaging 0.95
R5483:Olfr323 UTSW 11 58625957 missense possibly damaging 0.95
R6423:Olfr323 UTSW 11 58625363 missense probably damaging 1.00
R6990:Olfr323 UTSW 11 58625458 missense probably damaging 0.98
R7472:Olfr323 UTSW 11 58625434 missense probably damaging 1.00
R7539:Olfr323 UTSW 11 58625956 missense probably damaging 1.00
R7635:Olfr323 UTSW 11 58625164 missense unknown
R7647:Olfr323 UTSW 11 58625203 missense probably damaging 1.00
R8519:Olfr323 UTSW 11 58625974 missense probably damaging 1.00
Posted On2016-08-02