Incidental Mutation 'IGL01014:Olfr1311'
ID53444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1311
Ensembl Gene ENSMUSG00000109403
Gene Nameolfactory receptor 1311
SynonymsGA_x6K02T2Q125-73069292-73068354, MOR245-21
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #IGL01014
Quality Score
Status
Chromosome2
Chromosomal Location112019656-112024412 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 112021132 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 241 (S241P)
Ref Sequence ENSEMBL: ENSMUSP00000150617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000208536] [ENSMUST00000213602] [ENSMUST00000215321]
Predicted Effect probably damaging
Transcript: ENSMUST00000099601
AA Change: S241P

PolyPhen 2 Score 0.990 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097196
Gene: ENSMUSG00000074948
AA Change: S241P

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 1.9e-43 PFAM
Pfam:7tm_1 41 287 3e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208536
AA Change: S241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000213602
AA Change: S241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215321
AA Change: S241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216319
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,875,660 M401I probably benign Het
Adgra1 C T 7: 139,875,661 H402Y probably damaging Het
Akap13 T C 7: 75,750,633 probably benign Het
Akap9 A G 5: 3,968,683 E1088G probably benign Het
Aox2 T C 1: 58,322,801 F722S possibly damaging Het
Arhgef39 G A 4: 43,499,502 R36C probably damaging Het
Art2a-ps C A 7: 101,554,908 C141F probably damaging Het
Brwd1 A G 16: 96,016,173 F1380L probably benign Het
Cadps2 A T 6: 23,496,874 N102K possibly damaging Het
Ccdc30 C A 4: 119,393,579 R22L possibly damaging Het
Ccdc74a A T 16: 17,649,797 T200S possibly damaging Het
Cd200 G A 16: 45,394,700 T196I probably benign Het
Cd244 A G 1: 171,574,288 Y194C probably damaging Het
Cdh23 T C 10: 60,307,522 T3009A probably damaging Het
Clec12b T A 6: 129,385,430 N21Y probably damaging Het
Cntln A G 4: 85,049,908 E788G probably benign Het
Col11a1 C T 3: 114,123,809 probably benign Het
Cttnbp2 T A 6: 18,423,895 N810I probably damaging Het
Dhx15 A T 5: 52,151,924 V719D probably damaging Het
Dnah6 A G 6: 73,074,781 probably benign Het
Dnajc13 A G 9: 104,203,218 I888T probably damaging Het
Fasn T C 11: 120,817,229 K666E probably damaging Het
Gnas C T 2: 174,297,974 probably benign Het
Lmntd2 T C 7: 141,214,039 Q7R probably damaging Het
Lmo7 G A 14: 101,920,557 probably benign Het
Lrrc55 A G 2: 85,196,215 I155T possibly damaging Het
Meis3 C T 7: 16,178,947 probably benign Het
Mib2 C T 4: 155,657,730 V334M probably damaging Het
Myo3a A G 2: 22,332,473 I386V probably benign Het
Neb C A 2: 52,287,158 M1390I probably benign Het
Nmd3 G A 3: 69,726,386 V69I probably benign Het
Nsmce3 G T 7: 64,872,634 D95E possibly damaging Het
Olfr1140 T C 2: 87,747,125 F310L probably benign Het
Olfr1259 T C 2: 89,943,260 Y285C probably damaging Het
Pde4d T C 13: 109,949,502 V538A probably damaging Het
Plxnb1 A T 9: 109,106,034 H982L probably benign Het
Pold2 G T 11: 5,872,293 Q459K probably benign Het
Ptpn14 G A 1: 189,822,633 R130Q probably damaging Het
Rnf10 A T 5: 115,256,983 L182Q probably damaging Het
Syne2 G A 12: 75,905,277 D440N probably damaging Het
Tlcd1 G A 11: 78,179,457 probably null Het
Tmem8 T A 17: 26,117,009 probably benign Het
Tpte A T 8: 22,320,882 Y185F probably benign Het
Other mutations in Olfr1311
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02626:Olfr1311 APN 2 112021113 missense probably damaging 1.00
R0499:Olfr1311 UTSW 2 112021432 missense probably damaging 1.00
R1511:Olfr1311 UTSW 2 112021404 missense probably benign 0.00
R3439:Olfr1311 UTSW 2 112021447 missense possibly damaging 0.95
R4564:Olfr1311 UTSW 2 112021767 missense possibly damaging 0.80
R4756:Olfr1311 UTSW 2 112020987 missense possibly damaging 0.52
R4776:Olfr1311 UTSW 2 112020931 missense probably benign 0.01
R5777:Olfr1311 UTSW 2 112021531 missense probably damaging 1.00
R5936:Olfr1311 UTSW 2 112021587 missense probably benign 0.38
R6283:Olfr1311 UTSW 2 112021260 missense possibly damaging 0.91
R6368:Olfr1311 UTSW 2 112021551 missense probably damaging 0.99
R6484:Olfr1311 UTSW 2 112021419 nonsense probably null
R7373:Olfr1311 UTSW 2 112021442 missense probably benign
X0065:Olfr1311 UTSW 2 112021635 missense probably benign 0.00
Posted On2013-06-28