Incidental Mutation 'IGL01546:Olfr19'
ID90331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr19
Ensembl Gene ENSMUSG00000048101
Gene Nameolfactory receptor 19
SynonymsGA_x54KRFPKG5P-13123979-13123050, M12, MTPCR15, MOR140-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.303) question?
Stock #IGL01546
Quality Score
Status
Chromosome16
Chromosomal Location16672228-16676405 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 16673265 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 239 (S239P)
Ref Sequence ENSEMBL: ENSMUSP00000145655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057886] [ENSMUST00000206365]
Predicted Effect probably damaging
Transcript: ENSMUST00000057886
AA Change: S239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053393
Gene: ENSMUSG00000048101
AA Change: S239P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 190 9.6e-8 PFAM
Pfam:7tm_1 41 290 2.9e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206365
AA Change: S239P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206799
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
1700016D06Rik T A 8: 11,656,136 M133L probably benign Het
Amdhd2 C A 17: 24,163,600 R22L probably benign Het
Arg2 T C 12: 79,149,859 probably benign Het
Catip T C 1: 74,362,795 L43P probably damaging Het
Ccdc30 A C 4: 119,398,188 L123R probably damaging Het
Cep89 T C 7: 35,420,900 L369P probably damaging Het
Dolpp1 T C 2: 30,397,095 F180L probably damaging Het
Kctd19 T C 8: 105,386,962 H670R probably benign Het
Kntc1 T A 5: 123,765,005 I315N probably benign Het
Mfsd4b2 A T 10: 39,921,475 W295R probably damaging Het
Mgam A G 6: 40,654,693 T116A probably damaging Het
Mn1 A T 5: 111,421,248 D1028V probably damaging Het
Olfr23 G A 11: 73,941,194 G316D probably benign Het
Olfr592 A T 7: 103,187,410 I270F probably damaging Het
Olfr690 T C 7: 105,329,692 R167G probably damaging Het
Olfr694 A G 7: 106,689,531 S67P probably damaging Het
Olfr845 T G 9: 19,338,772 V104G possibly damaging Het
Phc3 C A 3: 30,961,739 A108S probably damaging Het
Pkhd1l1 A G 15: 44,566,316 Y3310C probably damaging Het
Ppp4r3b T C 11: 29,209,488 probably null Het
Slx4ip A G 2: 137,066,199 T159A probably benign Het
Sos1 T A 17: 80,408,611 Y974F probably damaging Het
Taar8a A T 10: 24,076,915 Y139F possibly damaging Het
Vcam1 A G 3: 116,115,942 C579R possibly damaging Het
Zdhhc17 C T 10: 110,946,193 V547M probably damaging Het
Other mutations in Olfr19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Olfr19 APN 16 16673103 missense probably damaging 1.00
IGL03105:Olfr19 APN 16 16673526 missense probably benign 0.00
PIT4418001:Olfr19 UTSW 16 16673855 missense probably damaging 1.00
R1891:Olfr19 UTSW 16 16673577 missense probably damaging 0.99
R1969:Olfr19 UTSW 16 16673583 missense probably benign 0.00
R2138:Olfr19 UTSW 16 16673205 missense probably damaging 1.00
R3765:Olfr19 UTSW 16 16673315 missense probably benign 0.05
R4193:Olfr19 UTSW 16 16673647 missense possibly damaging 0.76
R4565:Olfr19 UTSW 16 16673693 missense probably damaging 0.99
R4897:Olfr19 UTSW 16 16673618 missense probably damaging 1.00
R5753:Olfr19 UTSW 16 16673620 nonsense probably null
R6505:Olfr19 UTSW 16 16673920 missense probably benign 0.01
R7460:Olfr19 UTSW 16 16673166 missense possibly damaging 0.77
R7562:Olfr19 UTSW 16 16673715 missense probably benign 0.00
R7818:Olfr19 UTSW 16 16673573 missense probably damaging 0.97
Posted On2013-12-03