Incidental Mutation 'IGL01823:Olfr1342'
ID 154600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1342
Ensembl Gene ENSMUSG00000043383
Gene Name olfactory receptor 1342
Synonyms GA_x6K02T2QD9B-18856980-18857927, MOR258-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01823
Quality Score
Status
Chromosome 4
Chromosomal Location 118687486-118692756 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118689721 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 244 (C244R)
Ref Sequence ENSEMBL: ENSMUSP00000149966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060562] [ENSMUST00000216226]
AlphaFold Q8VFY3
Predicted Effect probably damaging
Transcript: ENSMUST00000060562
AA Change: C244R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053925
Gene: ENSMUSG00000043383
AA Change: C244R

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
Pfam:7tm_4 34 311 1.5e-55 PFAM
Pfam:7TM_GPCR_Srsx 38 243 1.6e-5 PFAM
Pfam:7tm_1 44 293 4.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216226
AA Change: C244R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp6 A G 13: 38,498,822 T460A probably damaging Het
Cd209a T C 8: 3,748,851 probably benign Het
Dock2 A G 11: 34,262,391 L1250P probably damaging Het
Evc T C 5: 37,328,521 N104D probably damaging Het
Fam161a A T 11: 23,015,785 E26V probably damaging Het
Foxa3 T C 7: 19,014,518 T228A probably benign Het
Gm8206 A T 14: 6,017,078 D133E probably benign Het
Ighv1-15 T A 12: 114,657,592 T38S probably benign Het
Ikzf1 A G 11: 11,769,091 D266G possibly damaging Het
Man2a1 T C 17: 64,666,824 I365T probably damaging Het
Mcm4 T C 16: 15,626,131 D756G probably damaging Het
Mroh9 G A 1: 163,055,609 L434F probably benign Het
Olfr297 T C 7: 86,527,041 C95R probably damaging Het
Phldb2 T A 16: 45,825,144 Y313F probably damaging Het
Psd4 A G 2: 24,394,432 S103G probably benign Het
Ripk4 T C 16: 97,755,283 I87V possibly damaging Het
Scn9a A T 2: 66,484,042 F1766L probably damaging Het
Slc10a5 A T 3: 10,334,514 V362D possibly damaging Het
Slc12a3 A G 8: 94,357,096 D917G probably benign Het
Slc30a4 A G 2: 122,702,092 V110A probably damaging Het
Slc30a8 A G 15: 52,295,962 probably benign Het
Slc5a8 T A 10: 88,919,472 C480* probably null Het
Tmppe A G 9: 114,405,107 K158R probably benign Het
Tubb6 A G 18: 67,402,273 N414S probably damaging Het
Wnt8a A T 18: 34,544,793 T85S possibly damaging Het
Other mutations in Olfr1342
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02391:Olfr1342 APN 4 118690341 missense probably damaging 1.00
R0648:Olfr1342 UTSW 4 118690072 missense probably benign
R1565:Olfr1342 UTSW 4 118690192 missense probably damaging 1.00
R1675:Olfr1342 UTSW 4 118689948 missense probably benign 0.00
R1823:Olfr1342 UTSW 4 118690192 missense probably damaging 1.00
R2343:Olfr1342 UTSW 4 118690187 missense probably benign 0.30
R4618:Olfr1342 UTSW 4 118689470 utr 3 prime probably benign
R4941:Olfr1342 UTSW 4 118689892 missense possibly damaging 0.76
R5408:Olfr1342 UTSW 4 118690444 missense probably benign 0.00
R5587:Olfr1342 UTSW 4 118689870 missense probably damaging 1.00
R5895:Olfr1342 UTSW 4 118690117 missense probably damaging 0.97
R6023:Olfr1342 UTSW 4 118690074 missense probably damaging 1.00
R6307:Olfr1342 UTSW 4 118689948 missense probably benign 0.00
R6324:Olfr1342 UTSW 4 118690531 start gained probably benign
R6890:Olfr1342 UTSW 4 118689531 missense possibly damaging 0.72
R7218:Olfr1342 UTSW 4 118690018 missense probably benign
R7408:Olfr1342 UTSW 4 118689662 missense probably damaging 0.98
R7555:Olfr1342 UTSW 4 118689642 missense possibly damaging 0.94
R7749:Olfr1342 UTSW 4 118690228 missense probably damaging 1.00
R8098:Olfr1342 UTSW 4 118690209 missense possibly damaging 0.88
R8493:Olfr1342 UTSW 4 118690032 missense probably benign 0.01
Z1176:Olfr1342 UTSW 4 118690272 missense probably benign 0.31
Posted On 2014-02-04