Incidental Mutation 'IGL02479:Olfr1309'
ID295118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1309
Ensembl Gene ENSMUSG00000109528
Gene Nameolfactory receptor 1309
SynonymsMOR245-5, GA_x6K02T2Q125-73031456-73030518
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.264) question?
Stock #IGL02479
Quality Score
Status
Chromosome2
Chromosomal Location111979857-111990281 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 111983385 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 230 (S230A)
Ref Sequence ENSEMBL: ENSMUSP00000150871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099604] [ENSMUST00000207885] [ENSMUST00000214537] [ENSMUST00000214935] [ENSMUST00000215045] [ENSMUST00000216948] [ENSMUST00000217452]
Predicted Effect probably benign
Transcript: ENSMUST00000099604
AA Change: S238A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097199
Gene: ENSMUSG00000094747
AA Change: S238A

DomainStartEndE-ValueType
Pfam:7tm_4 38 311 1.5e-36 PFAM
Pfam:7tm_1 49 295 6.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207885
AA Change: S238A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000214537
AA Change: S230A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000214935
AA Change: S230A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215045
AA Change: S230A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216948
AA Change: S230A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000217452
AA Change: S230A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,398 Y528C probably damaging Het
Adam24 T A 8: 40,679,532 I13N probably benign Het
Arsj T C 3: 126,438,939 S445P possibly damaging Het
Btf3l4 G A 4: 108,826,176 T31I possibly damaging Het
Cask A T X: 13,557,058 D502E probably damaging Het
Cenpl T A 1: 161,083,067 S195T probably benign Het
Clhc1 T A 11: 29,578,107 I545N probably damaging Het
Clrn2 T C 5: 45,463,912 I216T probably benign Het
Csf2rb C T 15: 78,341,724 Q332* probably null Het
Cyp3a44 T C 5: 145,790,667 D284G probably benign Het
Dgka T C 10: 128,730,246 E345G probably benign Het
Dync1i2 G A 2: 71,235,979 V128I probably damaging Het
Eno3 T A 11: 70,660,888 probably benign Het
Epc2 T A 2: 49,532,135 I347K probably benign Het
F8 A T X: 75,288,240 N681K probably damaging Het
Fam207a T C 10: 77,514,327 S76G probably damaging Het
Fancm T A 12: 65,106,485 D1238E probably damaging Het
Fcna T A 2: 25,625,260 Q237L probably benign Het
Fpr2 A T 17: 17,892,812 R23S probably benign Het
Frmd3 A G 4: 74,187,515 D466G probably benign Het
Gen1 C A 12: 11,241,935 V618L probably benign Het
Gja4 T C 4: 127,312,424 E182G probably benign Het
Gsdmc T A 15: 63,777,975 I356F possibly damaging Het
Kctd19 T C 8: 105,384,768 D102G probably damaging Het
Lrit2 T C 14: 37,072,278 L433P probably damaging Het
Lrp2 G A 2: 69,464,801 probably benign Het
Luc7l3 G A 11: 94,296,909 probably benign Het
Map3k5 T A 10: 20,056,484 L458Q probably damaging Het
Mast4 A G 13: 102,742,037 S1038P probably damaging Het
Med12 A T X: 101,296,992 probably benign Het
Mtor T A 4: 148,470,584 L888M probably damaging Het
Nova1 A T 12: 46,816,918 I83N unknown Het
Obscn A G 11: 59,056,227 probably benign Het
Olfr1320 T C X: 49,683,865 V121A probably benign Het
Olfr1426 T A 19: 12,087,905 M296L probably benign Het
Olfr420 C A 1: 174,158,954 Y60* probably null Het
Pde2a A G 7: 101,501,083 Y243C probably damaging Het
Pdzd8 T A 19: 59,299,783 K1062* probably null Het
Phc1 A T 6: 122,323,717 probably benign Het
Pik3c2g T A 6: 139,918,004 S764T probably benign Het
Pmp2 T G 3: 10,182,202 R89S probably benign Het
Prdm2 A G 4: 143,134,929 L597P probably damaging Het
Rfx6 T A 10: 51,678,328 D88E probably benign Het
Rgs9 T C 11: 109,225,652 S442G possibly damaging Het
Ror2 C T 13: 53,131,932 R82Q possibly damaging Het
Sez6 C A 11: 77,978,026 A986E possibly damaging Het
Slc5a5 T A 8: 70,888,911 M325L possibly damaging Het
Sppl2c G A 11: 104,186,937 V188I probably benign Het
Srrm3 G T 5: 135,835,249 C67F probably damaging Het
Stk31 A G 6: 49,421,688 E341G probably damaging Het
Svil A T 18: 5,099,476 M1267L probably damaging Het
Tas2r135 C T 6: 42,405,751 R75* probably null Het
Trav8d-1 T C 14: 52,778,800 S48P probably benign Het
Vrk1 A T 12: 106,051,002 Q95L probably benign Het
Wdr25 C A 12: 108,898,601 T224K probably benign Het
Wdr37 A T 13: 8,842,784 H224Q probably damaging Het
Zhx1 C T 15: 58,054,371 E160K probably damaging Het
Other mutations in Olfr1309
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Olfr1309 APN 2 111983933 missense probably damaging 1.00
R0234:Olfr1309 UTSW 2 111983300 missense probably damaging 0.99
R0234:Olfr1309 UTSW 2 111983300 missense probably damaging 0.99
R1777:Olfr1309 UTSW 2 111983697 missense possibly damaging 0.64
R1994:Olfr1309 UTSW 2 111984084 missense probably benign
R3892:Olfr1309 UTSW 2 111983141 missense probably benign 0.03
R3946:Olfr1309 UTSW 2 111983297 missense possibly damaging 0.68
R4541:Olfr1309 UTSW 2 111983636 missense probably benign 0.01
R5150:Olfr1309 UTSW 2 111984021 missense probably benign 0.11
R5275:Olfr1309 UTSW 2 111983829 missense probably damaging 1.00
R5293:Olfr1309 UTSW 2 111983266 missense probably damaging 0.99
R6080:Olfr1309 UTSW 2 111983705 missense probably damaging 1.00
R6258:Olfr1309 UTSW 2 111984051 missense probably benign 0.05
R6260:Olfr1309 UTSW 2 111984051 missense probably benign 0.05
R6291:Olfr1309 UTSW 2 111983624 missense probably benign 0.00
R6442:Olfr1309 UTSW 2 111983529 missense probably damaging 0.99
R7013:Olfr1309 UTSW 2 111983963 missense probably benign 0.31
X0062:Olfr1309 UTSW 2 111983601 missense probably benign 0.00
Posted On2015-04-16