Incidental Mutation 'IGL02949:Olfr243'
ID364869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr243
Ensembl Gene ENSMUSG00000094822
Gene Nameolfactory receptor 243
SynonymsGA_x6K02T2L9TJ-1933-2295, MOR22-4, GA_x6K02T2PBJ9-6440320-6440766, Olfr627
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02949
Quality Score
Status
Chromosome7
Chromosomal Location103714671-103721166 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103717220 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 209 (I209V)
Ref Sequence ENSEMBL: ENSMUSP00000150329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098194] [ENSMUST00000215723]
Predicted Effect probably benign
Transcript: ENSMUST00000098194
AA Change: I209V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095796
Gene: ENSMUSG00000094822
AA Change: I209V

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 1.6e-105 PFAM
Pfam:7tm_1 43 295 4.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215723
AA Change: I209V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,617,920 V89I probably damaging Het
Abhd5 T C 9: 122,377,915 F89L possibly damaging Het
Akr1c13 T A 13: 4,198,594 V266E probably damaging Het
B4galt2 C T 4: 117,881,405 A72T probably benign Het
Ccdc141 T C 2: 77,027,594 Y1081C probably damaging Het
Coq8b T C 7: 27,256,613 V405A possibly damaging Het
Ddah2 A G 17: 35,061,800 K251E probably damaging Het
Dnah5 T C 15: 28,272,185 V1045A probably benign Het
Dpy19l1 A T 9: 24,421,180 M662K probably benign Het
Dpys A G 15: 39,826,883 V358A probably damaging Het
H2-D1 A G 17: 35,264,088 N198S probably benign Het
Hnrnpa1 T C 15: 103,242,111 V163A probably damaging Het
Hr C T 14: 70,559,785 R543C possibly damaging Het
Lct C T 1: 128,313,132 V245M probably benign Het
Lpl G A 8: 68,892,748 V135M probably damaging Het
Mblac1 T A 5: 138,194,857 C154S probably benign Het
Mmp9 T C 2: 164,951,119 F396S probably damaging Het
Mroh1 A T 15: 76,408,968 H314L probably damaging Het
Msantd4 T A 9: 4,385,196 L307Q probably damaging Het
Nol8 A G 13: 49,662,402 D662G probably benign Het
Nynrin G A 14: 55,872,380 S1648N probably damaging Het
Plcb2 C T 2: 118,719,109 probably null Het
Scyl2 T A 10: 89,660,301 N229I possibly damaging Het
Spryd3 C T 15: 102,118,109 E376K probably benign Het
Srr T G 11: 74,908,737 E304A probably benign Het
Srsf1 A G 11: 88,049,526 probably benign Het
Txnrd2 T G 16: 18,477,706 S473A probably benign Het
Wdr18 T A 10: 79,965,055 C151S probably benign Het
Zfp282 C T 6: 47,897,914 T351I probably damaging Het
Other mutations in Olfr243
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Olfr243 APN 7 103717121 missense probably benign 0.06
IGL01550:Olfr243 APN 7 103716997 missense probably damaging 0.98
IGL02698:Olfr243 APN 7 103717278 missense probably damaging 1.00
IGL02795:Olfr243 APN 7 103716883 missense probably benign 0.24
IGL03326:Olfr243 APN 7 103716862 missense probably benign 0.12
R1605:Olfr243 UTSW 7 103716651 missense probably damaging 0.99
R1676:Olfr243 UTSW 7 103717112 missense probably benign
R1973:Olfr243 UTSW 7 103716597 start codon destroyed probably null 0.93
R2897:Olfr243 UTSW 7 103717542 missense probably benign
R4667:Olfr243 UTSW 7 103716638 missense probably benign 0.00
R4883:Olfr243 UTSW 7 103716707 missense probably benign
R4955:Olfr243 UTSW 7 103716705 missense probably benign 0.42
R5322:Olfr243 UTSW 7 103717112 missense probably benign
R5384:Olfr243 UTSW 7 103717355 missense probably benign 0.12
R5386:Olfr243 UTSW 7 103717355 missense probably benign 0.12
R5523:Olfr243 UTSW 7 103717480 nonsense probably null
R7307:Olfr243 UTSW 7 103716966 missense probably damaging 0.96
Posted On2015-12-18