Incidental Mutation 'IGL02698:Olfr243'
ID304000
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 #IGL02698
Quality Score
Status
Chromosome7
Chromosomal Location103714671-103721166 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103717278 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 228 (V228A)
Ref Sequence ENSEMBL: ENSMUSP00000150329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098194] [ENSMUST00000215723]
Predicted Effect probably damaging
Transcript: ENSMUST00000098194
AA Change: V228A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095796
Gene: ENSMUSG00000094822
AA Change: V228A

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 1.6e-105 PFAM
Pfam:7tm_1 43 295 4.5e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215723
AA Change: V228A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp21 T A 9: 112,185,744 probably benign Het
Car8 A T 4: 8,185,598 I186N probably benign Het
Ccdc174 G A 6: 91,890,853 S183N probably benign Het
Ccdc66 T A 14: 27,490,792 K525* probably null Het
Cebpz A G 17: 78,935,574 V217A probably benign Het
Cfap36 C A 11: 29,247,014 probably null Het
Cpne4 T C 9: 105,032,785 V527A probably damaging Het
Crh T G 3: 19,694,190 D96A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcp1a A T 14: 30,505,542 probably benign Het
Ddhd1 A T 14: 45,605,206 probably benign Het
Dis3l2 C T 1: 87,048,829 probably benign Het
Dopey1 T C 9: 86,524,359 probably benign Het
Etv3 A G 3: 87,536,578 T490A possibly damaging Het
Fastkd2 A G 1: 63,747,999 T531A probably benign Het
Fat1 C T 8: 45,023,164 A1749V probably benign Het
Fgfr1 T A 8: 25,573,608 L761* probably null Het
Gcc2 A G 10: 58,271,290 K683E possibly damaging Het
Gm17677 T C 9: 35,741,120 probably benign Het
Gm5117 C T 8: 31,739,739 noncoding transcript Het
Hif1a T C 12: 73,930,771 probably null Het
Inha A G 1: 75,509,883 E274G probably damaging Het
Itih2 G T 2: 10,130,501 P26H probably damaging Het
Kif23 G A 9: 61,925,001 T620I possibly damaging Het
Klhl30 T C 1: 91,353,707 F10S probably damaging Het
Kmt2b T C 7: 30,578,693 probably benign Het
Lmf2 A C 15: 89,354,154 L174R probably damaging Het
Med13l T C 5: 118,762,829 L2216P probably damaging Het
Mmp1b T A 9: 7,384,877 L257F probably damaging Het
Net1 A G 13: 3,887,569 probably null Het
Nfasc A G 1: 132,634,737 V100A probably benign Het
Nr4a2 A G 2: 57,108,160 F535S probably damaging Het
Ntn4 G T 10: 93,644,659 A45S probably benign Het
Olfr1141 T A 2: 87,753,844 K50* probably null Het
Olfr1197 T A 2: 88,729,471 I43F probably damaging Het
Olfr1386 T A 11: 49,470,863 F237L probably benign Het
Olfr25 A G 9: 38,330,210 T208A probably benign Het
Pappa A T 4: 65,181,020 E592V probably damaging Het
Pi4ka A T 16: 17,291,168 I1630N probably damaging Het
Ptprb A G 10: 116,363,280 D1997G probably benign Het
Rc3h2 A T 2: 37,405,300 S235T probably damaging Het
S1pr1 T A 3: 115,712,097 K283* probably null Het
Scn5a T A 9: 119,521,097 T904S probably damaging Het
Sema6d T C 2: 124,653,723 L30P possibly damaging Het
Slc26a7 A C 4: 14,593,867 S83A possibly damaging Het
Slco1a6 C A 6: 142,103,011 G348* probably null Het
Srgap3 C T 6: 112,746,928 V524I probably damaging Het
Stxbp3-ps A T 19: 9,558,324 noncoding transcript Het
Sv2b C T 7: 75,140,978 probably null Het
Sympk T C 7: 19,045,634 I663T probably benign Het
Ttn C A 2: 76,944,771 V1976L probably damaging Het
Uqcrc1 T C 9: 108,947,943 probably null Het
Vmn2r111 T C 17: 22,571,245 Y260C 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
IGL02795:Olfr243 APN 7 103716883 missense probably benign 0.24
IGL02949:Olfr243 APN 7 103717220 missense probably benign 0.00
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 On2015-04-16