Incidental Mutation 'IGL01955:Olfr319'
ID181414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr319
Ensembl Gene ENSMUSG00000064044
Gene Nameolfactory receptor 319
SynonymsMOR285-2, GA_x6K02T2NKPP-708319-707399
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL01955
Quality Score
Status
Chromosome11
Chromosomal Location58699162-58703472 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58702129 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 143 (S143P)
Ref Sequence ENSEMBL: ENSMUSP00000150883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076965] [ENSMUST00000215962]
Predicted Effect probably damaging
Transcript: ENSMUST00000076965
AA Change: S143P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076232
Gene: ENSMUSG00000064044
AA Change: S143P

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.8e-46 PFAM
Pfam:7tm_1 41 290 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215238
Predicted Effect probably damaging
Transcript: ENSMUST00000215962
AA Change: S143P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
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
4930432E11Rik G T 7: 29,573,995 noncoding transcript Het
Abcc1 T A 16: 14,410,795 I302N probably damaging Het
Abhd16a A G 17: 35,101,340 S394G probably damaging Het
Adgrv1 T C 13: 81,182,783 Y71C probably damaging Het
Apol8 A G 15: 77,749,699 C226R probably benign Het
Armc4 C T 18: 7,127,291 R974Q possibly damaging Het
Bbs7 A G 3: 36,610,322 S45P probably benign Het
Cacna1b T C 2: 24,639,137 Y1575C probably damaging Het
Cckbr T A 7: 105,434,962 V301E probably damaging Het
Cwc27 A G 13: 104,807,737 Y79H probably damaging Het
Dchs1 T C 7: 105,757,591 T2236A probably benign Het
Ddx50 T C 10: 62,647,183 R36G probably benign Het
Extl3 T A 14: 65,075,966 Y589F probably benign Het
Gab2 T C 7: 97,304,223 V601A probably damaging Het
Hsd3b1 T A 3: 98,853,147 N176I probably benign Het
L3mbtl3 A T 10: 26,318,438 S420R unknown Het
Olfr1000 A G 2: 85,608,707 F68L probably benign Het
Olfr589 T A 7: 103,154,854 K298* probably null Het
Polr2a T C 11: 69,741,848 D974G probably damaging Het
Ptges3l T C 11: 101,423,818 K13E possibly damaging Het
Ptprk A G 10: 28,595,865 probably benign Het
Rassf3 T C 10: 121,417,122 Y60C probably damaging Het
Rnf157 T C 11: 116,359,896 T160A probably damaging Het
Secisbp2l A G 2: 125,743,812 probably null Het
Setd2 A G 9: 110,549,318 T734A probably benign Het
Skint5 A G 4: 113,623,736 probably null Het
Slc38a9 A G 13: 112,695,418 probably benign Het
Snx17 T G 5: 31,197,082 probably benign Het
Tas2r113 A T 6: 132,893,854 M282L probably benign Het
Tbc1d31 A G 15: 57,942,370 N404D probably benign Het
Tmem63c A T 12: 87,077,208 I487F probably benign Het
Tpm3 A G 3: 90,088,435 M164V probably benign Het
Trafd1 G T 5: 121,375,154 N340K probably benign Het
Trpv4 T A 5: 114,622,682 K863* probably null Het
Ttn A T 2: 76,797,352 M13003K possibly damaging Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Unc5b T C 10: 60,778,255 T272A probably benign Het
Vmn1r82 A C 7: 12,305,723 probably null Het
Zc3h7b A G 15: 81,792,004 N704D probably benign Het
Other mutations in Olfr319
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01398:Olfr319 APN 11 58701767 missense probably benign
IGL02145:Olfr319 APN 11 58702060 missense probably damaging 0.99
IGL02283:Olfr319 APN 11 58702276 missense probably damaging 0.96
R0468:Olfr319 UTSW 11 58701793 missense probably damaging 1.00
R0499:Olfr319 UTSW 11 58702243 missense probably benign 0.01
R0815:Olfr319 UTSW 11 58702609 missense possibly damaging 0.84
R0885:Olfr319 UTSW 11 58702087 missense possibly damaging 0.93
R1081:Olfr319 UTSW 11 58702498 missense probably damaging 1.00
R1603:Olfr319 UTSW 11 58702460 missense probably benign 0.00
R1935:Olfr319 UTSW 11 58702346 missense probably damaging 1.00
R1936:Olfr319 UTSW 11 58702346 missense probably damaging 1.00
R1938:Olfr319 UTSW 11 58702623 makesense probably null
R2436:Olfr319 UTSW 11 58702126 missense probably damaging 0.97
R4243:Olfr319 UTSW 11 58702451 missense probably damaging 1.00
R4244:Olfr319 UTSW 11 58702451 missense probably damaging 1.00
R4742:Olfr319 UTSW 11 58701859 missense probably benign
R4801:Olfr319 UTSW 11 58701791 missense probably benign
R4802:Olfr319 UTSW 11 58701791 missense probably benign
R4927:Olfr319 UTSW 11 58701807 missense probably damaging 1.00
R5259:Olfr319 UTSW 11 58701952 missense probably benign 0.07
R5259:Olfr319 UTSW 11 58701953 missense possibly damaging 0.83
R5393:Olfr319 UTSW 11 58702500 missense probably damaging 0.97
R5471:Olfr319 UTSW 11 58702325 missense probably damaging 0.98
R5571:Olfr319 UTSW 11 58702051 missense probably damaging 1.00
R6746:Olfr319 UTSW 11 58702543 missense probably benign
R7045:Olfr319 UTSW 11 58701669 start gained probably benign
X0065:Olfr319 UTSW 11 58702489 missense probably benign 0.02
Z1177:Olfr319 UTSW 11 58702113 missense probably benign 0.02
Posted On2014-05-07