Incidental Mutation 'IGL02037:Olfr1043'
ID184567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1043
Ensembl Gene ENSMUSG00000075201
Gene Nameolfactory receptor 1043
SynonymsMOR185-7, GA_x6K02T2Q125-47631900-47630956
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02037
Quality Score
Status
Chromosome2
Chromosomal Location86161890-86167522 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 86162837 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 37 (F37L)
Ref Sequence ENSEMBL: ENSMUSP00000149716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]
Predicted Effect probably benign
Transcript: ENSMUST00000099907
AA Change: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201
AA Change: F37L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.9e-46 PFAM
Pfam:7tm_1 41 290 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099908
SMART Domains Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.2e-48 PFAM
Pfam:7tm_1 41 290 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213886
AA Change: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213949
AA Change: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215624
Predicted Effect probably benign
Transcript: ENSMUST00000216028
AA Change: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,828,016 probably benign Het
Ace2 T A X: 164,164,000 V293D probably damaging Het
Adgrg6 T C 10: 14,441,441 Y545C probably damaging Het
Arhgap40 A G 2: 158,534,822 T293A probably damaging Het
Arhgef19 A G 4: 141,246,396 T65A probably damaging Het
Brf1 A G 12: 112,993,062 probably null Het
Cbfb T C 8: 105,178,620 S65P possibly damaging Het
Chsy1 T C 7: 66,171,828 S604P possibly damaging Het
Ckmt1 T C 2: 121,361,162 V271A probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd2 T C 4: 128,477,470 probably benign Het
D430041D05Rik A G 2: 104,208,214 probably benign Het
Dsg1c A G 18: 20,276,950 T492A probably benign Het
Fam160a1 T G 3: 85,730,632 K120T probably damaging Het
Fam3a G A X: 74,386,635 T156I probably damaging Het
Fbn2 A T 18: 58,096,015 C708S probably damaging Het
Fgf5 G A 5: 98,261,972 G127R probably damaging Het
Fn3k A T 11: 121,435,083 Y32F probably benign Het
Frem3 T C 8: 80,611,489 I137T probably benign Het
Hc T C 2: 35,013,519 D1041G probably benign Het
Heatr6 T A 11: 83,764,882 probably benign Het
Hivep1 G A 13: 42,156,077 A598T probably benign Het
Ifngr1 T C 10: 19,607,259 S254P probably benign Het
Kel T C 6: 41,697,474 S341G probably benign Het
Klra6 A C 6: 130,013,476 M224R probably benign Het
Mis18bp1 A G 12: 65,136,748 probably null Het
Mpeg1 C T 19: 12,463,296 T706I probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Palld T C 8: 61,525,114 R881G probably damaging Het
Pdha2 A T 3: 141,210,901 V282E probably damaging Het
Pga5 C T 19: 10,676,701 R46Q probably benign Het
Plekhg2 T C 7: 28,368,697 Y189C probably damaging Het
Rnf43 A G 11: 87,731,653 T527A probably benign Het
Rplp0 G A 5: 115,561,115 R73Q probably benign Het
Smco3 A G 6: 136,831,199 *226R probably null Het
Sugp2 T C 8: 70,259,674 probably benign Het
Tsga10 T C 1: 37,807,017 I343V probably benign Het
Ube2q2 A G 9: 55,168,218 K104E probably damaging Het
Ube3a C T 7: 59,275,758 probably benign Het
Usp11 T C X: 20,719,142 I785T probably damaging Het
Vmn2r22 A T 6: 123,649,067 C137S probably damaging Het
Zfp281 T C 1: 136,627,447 V721A possibly damaging Het
Zfp946 T C 17: 22,453,488 S23P probably damaging Het
Zfyve1 A G 12: 83,547,920 V766A probably damaging Het
Other mutations in Olfr1043
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Olfr1043 APN 2 86162920 missense probably benign 0.01
IGL02174:Olfr1043 APN 2 86162098 missense possibly damaging 0.78
IGL02511:Olfr1043 APN 2 86162019 missense probably benign 0.00
IGL02578:Olfr1043 APN 2 86162729 nonsense probably null
IGL03084:Olfr1043 APN 2 86162225 nonsense probably null
R0278:Olfr1043 UTSW 2 86162579 nonsense probably null
R0633:Olfr1043 UTSW 2 86162091 missense probably damaging 1.00
R0972:Olfr1043 UTSW 2 86162304 missense possibly damaging 0.94
R1033:Olfr1043 UTSW 2 86162850 missense possibly damaging 0.67
R2116:Olfr1043 UTSW 2 86162729 nonsense probably null
R2998:Olfr1043 UTSW 2 86162020 missense probably benign
R3951:Olfr1043 UTSW 2 86162618 nonsense probably null
R5147:Olfr1043 UTSW 2 86162034 missense possibly damaging 0.79
R6193:Olfr1043 UTSW 2 86162284 missense possibly damaging 0.94
R7020:Olfr1043 UTSW 2 86162019 missense probably benign 0.00
Posted On2014-05-07