Incidental Mutation 'IGL01550:Olfr243'
ID90576
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: 0.093) question?
Stock #IGL01550
Quality Score
Status
Chromosome7
Chromosomal Location103714671-103721166 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 103716997 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 134 (H134Q)
Ref Sequence ENSEMBL: ENSMUSP00000150329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098194] [ENSMUST00000215723]
Predicted Effect probably damaging
Transcript: ENSMUST00000098194
AA Change: H134Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095796
Gene: ENSMUSG00000094822
AA Change: H134Q

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: H134Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T G 11: 3,937,974 R137S unknown Het
Epha8 G T 4: 136,931,740 Q868K possibly damaging Het
Erc1 T A 6: 119,783,394 M386L probably damaging Het
Gfpt2 T A 11: 49,824,323 probably null Het
Gm14124 T A 2: 150,266,443 probably benign Het
Gpr142 T A 11: 114,804,326 L39Q probably damaging Het
Hmcn1 A T 1: 150,598,397 W4765R probably damaging Het
Hmcn2 A T 2: 31,424,252 E3603V possibly damaging Het
Hsp90b1 C T 10: 86,704,370 D26N probably benign Het
Kmt2c T C 5: 25,281,276 T4760A probably damaging Het
Lmo7 C A 14: 101,926,140 probably benign Het
Mup4 A T 4: 59,960,120 I48K probably damaging Het
Mylk3 T A 8: 85,365,089 D29V probably damaging Het
Myo1b A G 1: 51,784,531 F405S probably damaging Het
Nbea T C 3: 55,805,248 D2136G possibly damaging Het
Olfr364-ps1 A T 2: 37,146,974 Y254F probably damaging Het
Olfr869 A T 9: 20,137,454 T113S probably damaging Het
Olfr996 T A 2: 85,579,531 C97* probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rpp40 T C 13: 35,906,200 probably null Het
Samd7 T A 3: 30,765,250 S383T probably damaging Het
Tbc1d10c T C 19: 4,184,824 T413A probably damaging Het
Tlr12 A G 4: 128,615,742 L905P probably damaging Het
Tnr A G 1: 159,874,258 K643R probably benign Het
Vmn2r124 T C 17: 18,063,355 probably null Het
Vwf A T 6: 125,679,289 I2606F probably benign Het
Wbp4 T C 14: 79,466,334 T258A probably benign Het
Zfp758 T C 17: 22,375,040 L137S probably damaging Het
Other mutations in Olfr243
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Olfr243 APN 7 103717121 missense probably benign 0.06
IGL02698:Olfr243 APN 7 103717278 missense probably damaging 1.00
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
R7743:Olfr243 UTSW 7 103717353 missense possibly damaging 0.49
R8006:Olfr243 UTSW 7 103717325 missense probably damaging 0.98
Posted On2013-12-09