Incidental Mutation 'IGL03290:Olfr324'
ID415881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr324
Ensembl Gene ENSMUSG00000056564
Gene Nameolfactory receptor 324
SynonymsGA_x6K02T2NKPP-822947-822000, MOR102-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL03290
Quality Score
Status
Chromosome11
Chromosomal Location58595114-58600783 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58598323 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 309 (N309S)
Ref Sequence ENSEMBL: ENSMUSP00000154149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054683] [ENSMUST00000214990] [ENSMUST00000216965]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054683
AA Change: N311S

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056457
Gene: ENSMUSG00000056564
AA Change: N311S

DomainStartEndE-ValueType
Pfam:7tm_4 49 324 3e-47 PFAM
Pfam:7tm_1 59 307 4.6e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214990
AA Change: N303S

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000216965
AA Change: N309S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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
Acsm4 A G 7: 119,703,423 probably benign Het
Asb18 A G 1: 90,014,574 S2P probably damaging Het
Atp2b2 A G 6: 113,793,754 F398S probably damaging Het
BC034090 T G 1: 155,226,110 D136A probably damaging Het
Ces5a A C 8: 93,519,632 F310V probably damaging Het
Chsy1 T C 7: 66,171,031 V338A probably benign Het
Dbh A G 2: 27,174,932 E385G probably damaging Het
Dnah14 T A 1: 181,763,978 probably benign Het
F2rl1 A G 13: 95,513,589 S262P possibly damaging Het
Fat2 T C 11: 55,256,219 N3984D probably benign Het
Fbxo38 A T 18: 62,526,163 H354Q probably benign Het
Fgf6 T A 6: 127,024,132 V201D probably damaging Het
Gm16181 A T 17: 35,223,957 probably benign Het
Gm6811 T C 17: 21,094,049 noncoding transcript Het
Gna11 A G 10: 81,530,937 F313S probably damaging Het
Gprc6a C T 10: 51,615,872 A523T probably damaging Het
Il22 T C 10: 118,205,880 probably null Het
Insr T C 8: 3,258,574 Y154C probably damaging Het
Irak4 T A 15: 94,551,899 D86E probably benign Het
Itk C A 11: 46,334,937 W529L probably damaging Het
Klhl6 C A 16: 19,947,137 A572S probably benign Het
Ldhc C T 7: 46,869,688 R112C probably damaging Het
Lrrc56 T C 7: 141,199,772 probably benign Het
Mdh2 A G 5: 135,789,713 E274G probably damaging Het
N4bp1 G T 8: 86,848,533 D711E probably benign Het
Ngly1 T A 14: 16,281,866 I248K probably damaging Het
Olfr872 T C 9: 20,260,260 I140T probably damaging Het
Pbrm1 A G 14: 31,107,284 E1421G probably damaging Het
Pcca G A 14: 122,585,106 R112H possibly damaging Het
Pgrmc2 T C 3: 41,068,626 probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Pogz A T 3: 94,875,091 probably benign Het
Ppp1r3a A G 6: 14,754,772 Y159H probably damaging Het
Rax T C 18: 65,938,160 K135E probably damaging Het
Rbm7 T A 9: 48,489,967 M154L probably benign Het
Rp1 A G 1: 4,350,041 S283P probably damaging Het
Rpusd4 T C 9: 35,267,977 S30P probably benign Het
Samd13 T C 3: 146,646,315 T75A probably benign Het
Sfxn4 A G 19: 60,860,070 W22R probably damaging Het
Sh3pxd2a T A 19: 47,424,516 R43W probably damaging Het
Smc5 A G 19: 23,273,658 V54A probably benign Het
Snap47 A G 11: 59,428,598 I238T probably damaging Het
Tecpr2 T G 12: 110,967,833 I1309S possibly damaging Het
Trappc8 A G 18: 20,820,935 L1310P probably damaging Het
Vmn2r61 T A 7: 42,265,984 H118Q probably benign Het
Zbtb17 C T 4: 141,466,933 T731I probably damaging Het
Zfp287 A G 11: 62,715,236 F282L probably damaging Het
Other mutations in Olfr324
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Olfr324 APN 11 58597582 missense possibly damaging 0.67
IGL02261:Olfr324 APN 11 58597804 missense probably benign 0.44
IGL02725:Olfr324 APN 11 58597864 missense probably benign 0.01
IGL03308:Olfr324 APN 11 58597699 missense probably damaging 0.98
R0531:Olfr324 UTSW 11 58597848 missense probably benign 0.01
R1463:Olfr324 UTSW 11 58598121 missense probably damaging 0.98
R1813:Olfr324 UTSW 11 58598307 missense probably damaging 1.00
R2062:Olfr324 UTSW 11 58597570 missense probably damaging 1.00
R2063:Olfr324 UTSW 11 58597570 missense probably damaging 1.00
R2065:Olfr324 UTSW 11 58597570 missense probably damaging 1.00
R2067:Olfr324 UTSW 11 58597570 missense probably damaging 1.00
R2068:Olfr324 UTSW 11 58597570 missense probably damaging 1.00
R4584:Olfr324 UTSW 11 58598004 missense probably benign 0.03
R6237:Olfr324 UTSW 11 58598005 missense probably damaging 0.97
R6397:Olfr324 UTSW 11 58597512 missense probably benign 0.00
R7056:Olfr324 UTSW 11 58598218 missense probably damaging 1.00
R8048:Olfr324 UTSW 11 58597407 missense unknown
Posted On2016-08-02