Incidental Mutation 'IGL02261:Olfr324'
ID286736
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: 0.073) question?
Stock #IGL02261
Quality Score
Status
Chromosome11
Chromosomal Location58595114-58600783 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58597804 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 138 (I138T)
Ref Sequence ENSEMBL: ENSMUSP00000056457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054683] [ENSMUST00000214990] [ENSMUST00000216965]
Predicted Effect probably benign
Transcript: ENSMUST00000054683
AA Change: I138T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056457
Gene: ENSMUSG00000056564
AA Change: I138T

DomainStartEndE-ValueType
Pfam:7tm_4 49 324 3e-47 PFAM
Pfam:7tm_1 59 307 4.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214990
AA Change: I130T

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216965
AA Change: I136T

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,456,948 V27M probably damaging Het
Ank1 A G 8: 23,087,999 N222D probably damaging Het
Bcas3 A T 11: 85,531,930 T542S probably damaging Het
Btbd1 A T 7: 81,805,759 I288N probably damaging Het
Ctps C T 4: 120,542,579 V500I possibly damaging Het
Cul5 A C 9: 53,635,037 V345G probably damaging Het
Dchs1 A G 7: 105,772,569 Y215H probably damaging Het
Dmxl1 T A 18: 49,840,499 M67K possibly damaging Het
Egln2 C T 7: 27,159,866 E353K possibly damaging Het
Fbxw5 G T 2: 25,503,734 A325S probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gaa A G 11: 119,281,265 *207W probably null Het
Herc2 A G 7: 56,206,744 T3947A probably damaging Het
Ifit2 T A 19: 34,574,224 I388N probably damaging Het
Ikzf4 T C 10: 128,636,722 T209A possibly damaging Het
Il17re A T 6: 113,468,511 probably benign Het
Insrr T A 3: 87,800,722 L157Q probably damaging Het
Kcnq2 T G 2: 181,081,690 Y631S probably damaging Het
Lrrfip1 A G 1: 91,112,168 I198V probably benign Het
Mir7684 A T 15: 82,389,144 probably benign Het
Mphosph9 C T 5: 124,260,087 E1049K probably damaging Het
Mroh1 G A 15: 76,429,160 R611Q probably benign Het
Mynn A T 3: 30,607,131 I121F possibly damaging Het
Ndrg2 G A 14: 51,911,109 R32C probably damaging Het
Olfr1178 A G 2: 88,391,381 I45V probably benign Het
Ppp1r9b A G 11: 95,002,110 E260G probably damaging Het
Psd4 A G 2: 24,401,744 S652G probably damaging Het
Psg25 C T 7: 18,521,343 R416H probably benign Het
Pygm T A 19: 6,388,271 N171K probably damaging Het
Rbm46 A T 3: 82,864,416 D297E possibly damaging Het
Selenov T A 7: 28,290,579 T167S probably benign Het
Serpina10 T C 12: 103,616,949 Y358C probably damaging Het
Slc27a3 T C 3: 90,387,695 R352G probably benign Het
Snx33 T C 9: 56,926,578 D69G probably benign Het
St8sia2 G T 7: 73,966,846 P127H probably damaging Het
Thbd T C 2: 148,406,481 K489R probably benign Het
Ttn A T 2: 76,936,705 C3039S probably damaging Het
Vmn1r167 T C 7: 23,504,836 M252V probably benign Het
Xdh A G 17: 73,913,965 S590P possibly damaging Het
Zfp827 G A 8: 79,180,079 V907I probably damaging Het
Other mutations in Olfr324
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Olfr324 APN 11 58597582 missense possibly damaging 0.67
IGL02725:Olfr324 APN 11 58597864 missense probably benign 0.01
IGL03290:Olfr324 APN 11 58598323 missense probably damaging 1.00
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 On2015-04-16