Incidental Mutation 'IGL02071:Olfr1042'
ID185834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1042
Ensembl Gene ENSMUSG00000075202
Gene Nameolfactory receptor 1042
SynonymsMOR185-10, GA_x6K02T2Q125-47629317-47628376
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02071
Quality Score
Status
Chromosome2
Chromosomal Location86156743-86161838 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 86159875 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 165 (R165L)
Ref Sequence ENSEMBL: ENSMUSP00000151053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]
Predicted Effect probably benign
Transcript: ENSMUST00000099907
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201

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
AA Change: R165L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: R165L

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
Predicted Effect probably benign
Transcript: ENSMUST00000213949
Predicted Effect probably benign
Transcript: ENSMUST00000215624
AA Change: R165L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216028
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,582,812 R92C probably damaging Het
Adam29 C A 8: 55,871,554 V622L possibly damaging Het
Bzw2 T C 12: 36,107,503 H321R probably benign Het
C2cd2 C T 16: 97,870,232 R489Q probably damaging Het
Ccdc129 C A 6: 55,967,725 S477* probably null Het
Cdh23 G A 10: 60,523,560 T253I possibly damaging Het
Col4a3 T G 1: 82,660,887 probably null Het
D630039A03Rik T C 4: 57,910,309 T168A possibly damaging Het
Dnajc19 A G 3: 34,078,765 L97P possibly damaging Het
Dpep2 A T 8: 105,985,144 H550Q probably benign Het
Dvl2 C A 11: 70,004,800 probably null Het
Fam234b A G 6: 135,227,151 probably null Het
Fxyd5 A G 7: 31,040,188 V32A possibly damaging Het
Mak16 A T 8: 31,160,529 S251T probably benign Het
Med10 T C 13: 69,815,628 V116A probably benign Het
Mycbp2 G A 14: 103,154,907 R50* probably null Het
Nckap5 G A 1: 125,981,568 P272L probably damaging Het
Nf1 T A 11: 79,444,121 V933E possibly damaging Het
Nrxn2 T A 19: 6,481,753 V749E probably damaging Het
Olfr78 A C 7: 102,742,148 V285G probably damaging Het
Osbpl9 T C 4: 109,071,979 Y417C probably damaging Het
Otop1 G A 5: 38,287,983 A162T probably damaging Het
Patl1 C A 19: 11,939,690 P634T probably damaging Het
Ppl A T 16: 5,113,072 S28T probably benign Het
Prkar2b C T 12: 31,963,017 G367R probably damaging Het
Rbl2 G A 8: 91,102,198 V576I probably damaging Het
Rgl3 C T 9: 21,988,263 A53T probably benign Het
Rp1 T A 1: 4,345,310 I1860F possibly damaging Het
Sbno2 A T 10: 80,060,641 D877E probably damaging Het
Sectm1b C T 11: 121,055,935 V45I probably damaging Het
Sfmbt2 G A 2: 10,577,952 V741I probably benign Het
Sugt1 T A 14: 79,610,283 L191* probably null Het
Tcf21 A T 10: 22,817,810 V156E possibly damaging Het
Tep1 T A 14: 50,834,049 R2046S possibly damaging Het
Tmem181a T C 17: 6,297,256 F241S probably damaging Het
Traf6 G A 2: 101,696,793 C296Y probably benign Het
Trim40 A G 17: 36,889,178 S3P probably benign Het
Ttll2 A T 17: 7,351,731 Y266N probably damaging Het
Vps54 A G 11: 21,275,071 N177S probably null Het
Other mutations in Olfr1042
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01914:Olfr1042 APN 2 86160047 missense probably benign 0.04
IGL02935:Olfr1042 APN 2 86160370 unclassified probably benign
IGL03152:Olfr1042 APN 2 86159686 missense possibly damaging 0.95
R0089:Olfr1042 UTSW 2 86159574 missense possibly damaging 0.89
R1419:Olfr1042 UTSW 2 86159429 makesense probably null
R1699:Olfr1042 UTSW 2 86159936 missense probably benign
R1804:Olfr1042 UTSW 2 86160073 missense probably benign 0.38
R3162:Olfr1042 UTSW 2 86160095 missense probably benign 0.03
R3162:Olfr1042 UTSW 2 86160095 missense probably benign 0.03
R3609:Olfr1042 UTSW 2 86159632 missense probably benign 0.00
R3953:Olfr1042 UTSW 2 86159938 missense probably benign 0.02
R3955:Olfr1042 UTSW 2 86159938 missense probably benign 0.02
R3956:Olfr1042 UTSW 2 86159938 missense probably benign 0.02
R3957:Olfr1042 UTSW 2 86159938 missense probably benign 0.02
R4771:Olfr1042 UTSW 2 86160073 missense probably benign 0.38
R5685:Olfr1042 UTSW 2 86159795 missense probably damaging 0.99
R6241:Olfr1042 UTSW 2 86160036 missense probably damaging 1.00
R6324:Olfr1042 UTSW 2 86159456 missense probably benign
R6678:Olfr1042 UTSW 2 86160185 missense probably damaging 0.98
R6921:Olfr1042 UTSW 2 86159852 missense probably benign 0.02
R7215:Olfr1042 UTSW 2 86159456 missense probably benign
R7386:Olfr1042 UTSW 2 86159530 missense possibly damaging 0.83
R8030:Olfr1042 UTSW 2 86160242 missense probably benign
Posted On2014-05-07