Incidental Mutation 'IGL03278:Or1f19'
ID 415484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1f19
Ensembl Gene ENSMUSG00000051003
Gene Name olfactory receptor family 1 subfamily F member 19
Synonyms GA_x54KRFPKG5P-112942-113883, Olfr161, MOR131-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # IGL03278
Quality Score
Status
Chromosome 16
Chromosomal Location 3410262-3411203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3410971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 237 (A237V)
Ref Sequence ENSEMBL: ENSMUSP00000150825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061541] [ENSMUST00000216259]
AlphaFold Q8VGB9
Predicted Effect possibly damaging
Transcript: ENSMUST00000061541
AA Change: A237V

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058956
Gene: ENSMUSG00000051003
AA Change: A237V

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 6.4e-60 PFAM
Pfam:7TM_GPCR_Srsx 36 220 7.2e-6 PFAM
Pfam:7tm_1 42 291 2.9e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216259
AA Change: A237V

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
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
2700049A03Rik T A 12: 71,205,599 (GRCm39) probably benign Het
Acss2 A G 2: 155,403,921 (GRCm39) D676G possibly damaging Het
Antxr1 A G 6: 87,181,439 (GRCm39) probably benign Het
Ccdc134 C T 15: 82,015,682 (GRCm39) A54V possibly damaging Het
Ccdc40 A T 11: 119,133,336 (GRCm39) I465F probably damaging Het
Cdk5rap1 A T 2: 154,212,622 (GRCm39) S79T probably benign Het
Col6a6 T C 9: 105,586,651 (GRCm39) E1790G probably benign Het
Cops8 C A 1: 90,532,087 (GRCm39) probably null Het
Dnah7a T C 1: 53,536,124 (GRCm39) T2640A probably benign Het
F2 G A 2: 91,465,527 (GRCm39) A86V probably benign Het
Fhip1b C A 7: 105,034,331 (GRCm39) M433I possibly damaging Het
Gabrb1 T G 5: 72,026,939 (GRCm39) D113E probably damaging Het
Git2 C A 5: 114,883,640 (GRCm39) probably benign Het
Git2 A T 5: 114,883,641 (GRCm39) probably null Het
Gm4847 A T 1: 166,462,605 (GRCm39) I295N probably benign Het
H2-M10.6 C A 17: 37,124,715 (GRCm39) H211N probably damaging Het
Hmgcr A G 13: 96,793,270 (GRCm39) probably benign Het
Larp1 T C 11: 57,934,882 (GRCm39) probably benign Het
Lrguk A G 6: 34,093,381 (GRCm39) E634G possibly damaging Het
Nanog A G 6: 122,688,704 (GRCm39) Y95C probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nfe2l1 C A 11: 96,713,018 (GRCm39) R55L probably benign Het
Pkmyt1 A G 17: 23,953,221 (GRCm39) E259G probably damaging Het
Pld4 A G 12: 112,733,165 (GRCm39) N247S probably damaging Het
Prdm4 A T 10: 85,743,622 (GRCm39) M211K probably damaging Het
Rab37 A C 11: 115,050,517 (GRCm39) I121L possibly damaging Het
Rabl6 T C 2: 25,473,834 (GRCm39) probably benign Het
Slc34a3 A T 2: 25,122,059 (GRCm39) V154E probably benign Het
Slc38a9 T G 13: 112,826,052 (GRCm39) probably benign Het
Sptlc3 G A 2: 139,431,579 (GRCm39) G367D probably damaging Het
Stk24 T C 14: 121,540,182 (GRCm39) K139R possibly damaging Het
Tacc2 T C 7: 130,335,298 (GRCm39) probably null Het
Tap1 A T 17: 34,410,457 (GRCm39) K378M probably damaging Het
Tfr2 A T 5: 137,569,298 (GRCm39) R10* probably null Het
Trim38 A G 13: 23,974,979 (GRCm39) D306G possibly damaging Het
Ttc6 A T 12: 57,668,812 (GRCm39) K418I probably damaging Het
Ush2a T A 1: 188,581,313 (GRCm39) L3731Q probably damaging Het
Vmn2r89 A T 14: 51,692,557 (GRCm39) Y120F probably damaging Het
Vps35 A T 8: 86,021,590 (GRCm39) probably benign Het
Other mutations in Or1f19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Or1f19 APN 16 3,410,848 (GRCm39) missense possibly damaging 0.55
IGL01519:Or1f19 APN 16 3,410,398 (GRCm39) missense probably damaging 1.00
IGL02727:Or1f19 APN 16 3,411,190 (GRCm39) missense probably benign 0.04
F6893:Or1f19 UTSW 16 3,411,027 (GRCm39) missense possibly damaging 0.55
R1634:Or1f19 UTSW 16 3,411,073 (GRCm39) missense probably benign 0.19
R2345:Or1f19 UTSW 16 3,411,003 (GRCm39) missense probably damaging 0.99
R4858:Or1f19 UTSW 16 3,410,706 (GRCm39) missense probably damaging 1.00
R4930:Or1f19 UTSW 16 3,410,299 (GRCm39) missense probably damaging 1.00
R6774:Or1f19 UTSW 16 3,410,380 (GRCm39) missense probably damaging 1.00
R7480:Or1f19 UTSW 16 3,410,493 (GRCm39) missense probably benign 0.03
R7712:Or1f19 UTSW 16 3,410,295 (GRCm39) missense probably damaging 1.00
R8685:Or1f19 UTSW 16 3,410,904 (GRCm39) missense probably damaging 0.99
R9042:Or1f19 UTSW 16 3,411,132 (GRCm39) missense probably damaging 1.00
R9084:Or1f19 UTSW 16 3,410,617 (GRCm39) missense probably damaging 1.00
R9534:Or1f19 UTSW 16 3,410,937 (GRCm39) missense probably benign 0.00
R9561:Or1f19 UTSW 16 3,410,725 (GRCm39) missense probably damaging 1.00
Z1176:Or1f19 UTSW 16 3,410,997 (GRCm39) missense probably benign 0.16
Z1176:Or1f19 UTSW 16 3,410,404 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02