Incidental Mutation 'IGL02413:Olfr1395'
ID292324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1395
Ensembl Gene ENSMUSG00000050763
Gene Nameolfactory receptor 1395
SynonymsMOR277-1, GA_x6K02T2QP88-6286247-6285294
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02413
Quality Score
Status
Chromosome11
Chromosomal Location49142274-49150453 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49148557 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 100 (L100P)
Ref Sequence ENSEMBL: ENSMUSP00000150679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059379] [ENSMUST00000203377] [ENSMUST00000214195]
Predicted Effect probably damaging
Transcript: ENSMUST00000059379
AA Change: L100P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050142
Gene: ENSMUSG00000050763
AA Change: L100P

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1e-50 PFAM
Pfam:7TM_GPCR_Srsx 36 252 4.8e-6 PFAM
Pfam:7tm_1 42 291 1.9e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203377
AA Change: L100P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145357
Gene: ENSMUSG00000050763
AA Change: L100P

DomainStartEndE-ValueType
Pfam:7tm_1 1 219 1.9e-18 PFAM
Pfam:7tm_4 1 237 2.4e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214195
AA Change: L100P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,422,437 probably benign Het
Afap1l1 A G 18: 61,733,789 L733P probably benign Het
Aqr G A 2: 114,118,780 A979V possibly damaging Het
Axin1 A G 17: 26,188,179 E582G probably benign Het
Catsper1 T C 19: 5,336,236 S166P possibly damaging Het
Cd248 G T 19: 5,070,173 G683V probably damaging Het
Celsr1 G T 15: 86,031,226 Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 V324F probably benign Het
Ctrc C A 4: 141,843,717 V71L possibly damaging Het
Exoc3l C A 8: 105,292,438 D465Y probably damaging Het
Fam205c T C 4: 42,868,549 D358G probably damaging Het
Flna T C X: 74,241,282 E417G probably benign Het
Grm6 T A 11: 50,859,939 V643D probably damaging Het
Inpp4b A G 8: 82,033,171 Y615C probably benign Het
Itga3 T C 11: 95,068,771 Y92C probably damaging Het
Jak3 T C 8: 71,686,119 probably null Het
Kcnh6 T A 11: 106,027,634 I823N possibly damaging Het
Klhl38 A T 15: 58,323,021 V104D probably damaging Het
Lpo C T 11: 87,806,906 V692M possibly damaging Het
Mnd1 T C 3: 84,116,479 H100R probably benign Het
Mterf4 A G 1: 93,302,804 F207L probably damaging Het
Oog3 C A 4: 144,158,151 W405L probably benign Het
Ptpn3 A G 4: 57,205,020 Y714H probably damaging Het
Steap3 T C 1: 120,241,772 Y265C probably damaging Het
Tcl1 C A 12: 105,218,823 E43* probably null Het
Terb1 A G 8: 104,494,868 probably null Het
Tmprss11a T A 5: 86,422,648 I151F possibly damaging Het
Trappc10 T C 10: 78,210,776 R430G probably damaging Het
Usp17le T C 7: 104,769,726 N70D probably benign Het
Vmn1r45 T C 6: 89,933,521 S36G possibly damaging Het
Vsig8 A C 1: 172,560,376 Y11S probably damaging Het
Vwa5b2 T A 16: 20,598,101 L516Q probably damaging Het
Other mutations in Olfr1395
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02946:Olfr1395 APN 11 49148892 missense probably damaging 1.00
R0030:Olfr1395 UTSW 11 49149040 missense possibly damaging 0.81
R1013:Olfr1395 UTSW 11 49149150 missense probably damaging 1.00
R1577:Olfr1395 UTSW 11 49149189 missense probably benign 0.05
R1908:Olfr1395 UTSW 11 49148274 missense possibly damaging 0.95
R3715:Olfr1395 UTSW 11 49148815 missense probably damaging 0.99
R4386:Olfr1395 UTSW 11 49149015 missense probably damaging 1.00
R4496:Olfr1395 UTSW 11 49148387 missense possibly damaging 0.86
R5030:Olfr1395 UTSW 11 49148361 missense probably benign 0.01
R6044:Olfr1395 UTSW 11 49148695 missense probably benign 0.29
R6226:Olfr1395 UTSW 11 49148833 missense possibly damaging 0.81
R7177:Olfr1395 UTSW 11 49149185 nonsense probably null
R7282:Olfr1395 UTSW 11 49149118 missense probably damaging 1.00
R7391:Olfr1395 UTSW 11 49148979 missense probably damaging 1.00
R7411:Olfr1395 UTSW 11 49148994 missense probably benign 0.01
R7888:Olfr1395 UTSW 11 49148439 missense probably damaging 1.00
Posted On2015-04-16