Incidental Mutation 'IGL02247:Olfr1469'
ID286221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1469
Ensembl Gene ENSMUSG00000063777
Gene Nameolfactory receptor 1469
SynonymsGA_x6K02T2RE5P-3743369-3744289, MOR202-11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL02247
Quality Score
Status
Chromosome19
Chromosomal Location13407849-13414540 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13411467 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 299 (S299R)
Ref Sequence ENSEMBL: ENSMUSP00000150006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077538] [ENSMUST00000216910]
Predicted Effect probably benign
Transcript: ENSMUST00000077538
AA Change: S299R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000076741
Gene: ENSMUSG00000063777
AA Change: S299R

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2e-47 PFAM
Pfam:7tm_1 42 290 2.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216910
AA Change: S299R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 27,084,893 R177G probably damaging Het
Ap3b1 T C 13: 94,394,795 probably null Het
Ascc3 A C 10: 50,650,590 K595T probably damaging Het
Cnpy4 A G 5: 138,192,863 T234A probably benign Het
Col13a1 T C 10: 61,961,345 Y101C probably damaging Het
Crybg3 A G 16: 59,503,150 I2809T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dgkz T C 2: 91,937,460 S824G probably benign Het
Dsg1c T A 18: 20,264,316 I27N probably damaging Het
Efhb C T 17: 53,401,624 V673I probably benign Het
Egr1 T C 18: 34,862,863 Y233H possibly damaging Het
Fam184a T C 10: 53,675,160 E237G probably damaging Het
Galt A G 4: 41,755,623 probably benign Het
Gm4795 T C 10: 45,007,115 noncoding transcript Het
Gm6563 G A 19: 23,676,028 E61K possibly damaging Het
Igkv1-133 G A 6: 67,725,606 V103M probably damaging Het
Iqcb1 T A 16: 36,839,896 H140Q probably benign Het
Itpk1 G T 12: 102,623,409 P74Q probably damaging Het
Itpr3 T A 17: 27,098,179 W803R probably damaging Het
Lgr4 C T 2: 110,008,075 probably benign Het
Lgr4 A T 2: 110,002,501 D312V probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mllt6 C A 11: 97,670,332 A282E probably benign Het
Mtif2 T C 11: 29,540,642 S449P possibly damaging Het
Nrg3 T C 14: 38,371,312 I533M probably damaging Het
Nynrin C T 14: 55,871,710 Q1425* probably null Het
Olfr1148 A G 2: 87,833,529 I163M probably damaging Het
Olfr1184 C T 2: 88,487,427 H232Y probably benign Het
Olfr397 A T 11: 73,964,862 M85L probably benign Het
Olfr679 T A 7: 105,086,323 Y202* probably null Het
Olfr733 T A 14: 50,299,114 N65I probably damaging Het
Olfr869 G A 9: 20,137,220 V35I probably benign Het
Plcb4 C T 2: 135,994,325 T20I possibly damaging Het
Ppp1r12b G T 1: 134,835,983 T771K probably benign Het
Prss22 T C 17: 23,996,389 T138A probably benign Het
Ros1 A T 10: 52,129,581 S907T probably damaging Het
Rtel1 T A 2: 181,351,341 Y521* probably null Het
Sacs T C 14: 61,192,535 F678S probably damaging Het
Smtnl1 A T 2: 84,817,028 probably benign Het
Sumf2 T C 5: 129,860,145 V258A probably damaging Het
Tas1r2 A T 4: 139,669,516 Y722F probably damaging Het
Tecpr1 A G 5: 144,206,554 F668L possibly damaging Het
Timd4 T C 11: 46,815,731 F120S probably damaging Het
Tnnt3 T C 7: 142,508,325 probably benign Het
Trp53bp1 G A 2: 121,236,589 S552F probably damaging Het
Txlnb G A 10: 17,830,342 R333Q possibly damaging Het
Txlnb A G 10: 17,841,528 probably benign Het
Uroc1 A G 6: 90,347,928 E461G probably benign Het
Vps45 G A 3: 96,042,924 T231I probably damaging Het
Zfp648 T A 1: 154,204,177 S27R probably benign Het
Other mutations in Olfr1469
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Olfr1469 APN 19 13411226 missense probably benign 0.01
IGL01520:Olfr1469 APN 19 13410750 missense probably damaging 0.97
IGL01671:Olfr1469 APN 19 13410891 missense probably benign 0.29
IGL02297:Olfr1469 APN 19 13411475 missense probably benign 0.00
IGL02417:Olfr1469 APN 19 13410895 missense possibly damaging 0.52
IGL02442:Olfr1469 APN 19 13410987 missense probably benign 0.00
IGL02989:Olfr1469 APN 19 13411486 missense probably benign
IGL03269:Olfr1469 APN 19 13411428 missense probably damaging 0.99
IGL02988:Olfr1469 UTSW 19 13411462 missense possibly damaging 0.75
R0707:Olfr1469 UTSW 19 13411420 missense probably benign 0.22
R1055:Olfr1469 UTSW 19 13411390 missense probably benign 0.10
R1102:Olfr1469 UTSW 19 13411090 missense probably damaging 1.00
R1946:Olfr1469 UTSW 19 13410779 missense possibly damaging 0.64
R2111:Olfr1469 UTSW 19 13410943 missense probably damaging 0.99
R4072:Olfr1469 UTSW 19 13410935 missense possibly damaging 0.49
R4073:Olfr1469 UTSW 19 13410935 missense possibly damaging 0.49
R4076:Olfr1469 UTSW 19 13410935 missense possibly damaging 0.49
R4726:Olfr1469 UTSW 19 13411105 missense probably damaging 1.00
R4939:Olfr1469 UTSW 19 13410855 missense probably benign 0.10
R5914:Olfr1469 UTSW 19 13410962 missense probably benign 0.31
R6003:Olfr1469 UTSW 19 13411039 missense probably benign 0.34
R6743:Olfr1469 UTSW 19 13410593 missense probably damaging 1.00
R6825:Olfr1469 UTSW 19 13411150 missense probably benign 0.01
R6826:Olfr1469 UTSW 19 13411088 missense probably benign 0.05
R6970:Olfr1469 UTSW 19 13411428 missense probably damaging 0.99
R7558:Olfr1469 UTSW 19 13410991 missense probably damaging 1.00
R7596:Olfr1469 UTSW 19 13411147 missense probably benign 0.01
R7923:Olfr1469 UTSW 19 13410818 missense probably benign 0.17
R8014:Olfr1469 UTSW 19 13410811 missense not run
R8506:Olfr1469 UTSW 19 13411240 missense possibly damaging 0.49
R8746:Olfr1469 UTSW 19 13410728 missense probably benign 0.44
R8803:Olfr1469 UTSW 19 13410673 missense probably damaging 0.99
Z1177:Olfr1469 UTSW 19 13410719 missense possibly damaging 0.94
Posted On2015-04-16