Incidental Mutation 'IGL01621:Olfr390'
ID92559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr390
Ensembl Gene ENSMUSG00000069818
Gene Nameolfactory receptor 390
SynonymsMOR135-26, GA_x6K02T2P1NL-3938806-3939741
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL01621
Quality Score
Status
Chromosome11
Chromosomal Location73782964-73790446 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73787277 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 113 (F113S)
Ref Sequence ENSEMBL: ENSMUSP00000146162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092919
AA Change: F113S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: F113S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.1e-61 PFAM
Pfam:7TM_GPCR_Srsx 35 305 7.2e-9 PFAM
Pfam:7tm_1 41 290 6.8e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120081
AA Change: F113S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: F113S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 305 7.2e-9 PFAM
Pfam:7tm_1 41 290 1.4e-36 PFAM
Pfam:7tm_4 139 283 5.6e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206815
AA Change: F113S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215161
AA Change: F113S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 63,898,383 T154I possibly damaging Het
4933434E20Rik T A 3: 90,064,502 M56K possibly damaging Het
5730559C18Rik C A 1: 136,219,775 A402S probably damaging Het
A730017C20Rik A G 18: 59,062,386 M1V probably null Het
Abca6 A G 11: 110,184,708 L1319S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Aloxe3 A G 11: 69,130,013 N188S probably benign Het
Ap1s1 G A 5: 137,041,804 R119* probably null Het
Apc2 T G 10: 80,306,201 L318R probably damaging Het
Atg101 A G 15: 101,287,095 S33G possibly damaging Het
Atp8a2 A T 14: 60,015,868 probably benign Het
Bpifb9b C A 2: 154,316,951 probably null Het
Braf A T 6: 39,646,853 probably benign Het
Cabp5 A G 7: 13,401,264 D43G probably damaging Het
Cfap46 T C 7: 139,606,607 N2462S unknown Het
Cit C T 5: 115,992,603 probably benign Het
Cpa4 T C 6: 30,574,416 V68A probably damaging Het
Cyp2j5 T C 4: 96,629,554 I474V probably benign Het
Dennd1a C A 2: 37,844,809 D49Y probably damaging Het
Dlg5 T C 14: 24,148,221 D1525G probably damaging Het
Dnajc18 C T 18: 35,680,840 R292H probably benign Het
Dync2h1 A G 9: 7,140,897 probably null Het
E2f6 A G 12: 16,825,368 D268G probably benign Het
Evi2b T A 11: 79,516,300 T150S probably damaging Het
F13b A G 1: 139,503,851 D53G probably benign Het
Fbxo38 G A 18: 62,522,524 probably benign Het
Flnb C T 14: 7,950,470 P2596L probably damaging Het
Fyco1 A G 9: 123,827,182 probably benign Het
Gm13023 T C 4: 143,793,932 F85L probably benign Het
Gm21759 A G 5: 8,179,775 probably benign Het
Gtse1 A G 15: 85,875,082 N597S probably benign Het
Hcn3 G T 3: 89,147,723 S739Y probably damaging Het
Ighv9-4 T A 12: 114,299,992 N107I probably damaging Het
Iqub T C 6: 24,446,212 K738E probably benign Het
Itga6 A T 2: 71,825,656 D308V probably benign Het
Klf12 T C 14: 100,023,149 Y48C probably damaging Het
Klhdc9 A G 1: 171,358,816 *351Q probably null Het
Krt40 A T 11: 99,542,868 N97K probably damaging Het
Lrit1 A C 14: 37,060,155 T262P probably damaging Het
Mcoln1 T C 8: 3,510,910 Y411H probably damaging Het
Mfsd4a A G 1: 132,054,143 S149P probably benign Het
Mipep A G 14: 60,796,165 probably benign Het
Mslnl A G 17: 25,743,667 probably benign Het
N4bp2 A T 5: 65,790,924 H299L probably damaging Het
Nbn C T 4: 15,965,221 P190S probably benign Het
Nos1 T A 5: 117,945,884 I1253N probably damaging Het
Nup210 G T 6: 91,030,117 F572L probably damaging Het
Olfr1381 T C 11: 49,552,137 L130P probably damaging Het
Olfr370 T C 8: 83,541,618 V158A probably benign Het
P4htm T A 9: 108,583,736 E106V probably damaging Het
Pcdhb20 C T 18: 37,504,807 H129Y possibly damaging Het
Pdcd6ip T C 9: 113,685,422 E240G probably benign Het
Pex5l T C 3: 33,014,961 probably null Het
Plcd1 T C 9: 119,076,178 N181S probably damaging Het
Plekhg6 G T 6: 125,372,099 L412M probably damaging Het
Ppp1r13b T A 12: 111,835,092 Q386L possibly damaging Het
Prpf40b A G 15: 99,310,045 probably benign Het
Rdh11 C T 12: 79,186,413 probably null Het
Ripor3 A T 2: 167,997,252 S110T probably damaging Het
Sec24d G A 3: 123,294,158 probably null Het
Secisbp2l T C 2: 125,773,211 S165G probably benign Het
Shank1 C T 7: 44,342,465 A698V unknown Het
Shank1 T C 7: 44,351,599 M914T unknown Het
Slc22a3 T C 17: 12,458,492 Q263R probably benign Het
Smc1a C A X: 152,036,129 Q647K probably damaging Het
Sohlh1 A G 2: 25,846,861 probably benign Het
Tacc2 C A 7: 130,729,768 T484K probably damaging Het
Ubr4 G T 4: 139,440,783 E2825* probably null Het
Wbp2nl G A 15: 82,308,605 M163I probably benign Het
Zfp69 T A 4: 120,931,500 K206M probably damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in Olfr390
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Olfr390 APN 11 73787580 missense probably damaging 1.00
IGL01630:Olfr390 APN 11 73787861 missense probably benign 0.14
IGL01866:Olfr390 APN 11 73787828 missense probably benign 0.28
IGL02577:Olfr390 APN 11 73787046 missense probably damaging 1.00
IGL02617:Olfr390 APN 11 73787734 missense probably benign 0.01
IGL03017:Olfr390 APN 11 73787518 missense probably benign 0.01
IGL03215:Olfr390 APN 11 73787385 missense probably damaging 1.00
IGL03342:Olfr390 APN 11 73787483 missense probably benign 0.03
IGL03098:Olfr390 UTSW 11 73787703 missense probably benign 0.29
R0115:Olfr390 UTSW 11 73787315 missense possibly damaging 0.45
R0217:Olfr390 UTSW 11 73787388 missense possibly damaging 0.90
R1971:Olfr390 UTSW 11 73787790 missense probably damaging 1.00
R2033:Olfr390 UTSW 11 73787438 missense probably benign 0.15
R2058:Olfr390 UTSW 11 73787274 missense probably benign 0.00
R3051:Olfr390 UTSW 11 73787234 missense probably benign 0.01
R3622:Olfr390 UTSW 11 73787741 missense probably benign 0.00
R3913:Olfr390 UTSW 11 73787696 missense probably damaging 1.00
R4545:Olfr390 UTSW 11 73787166 missense probably damaging 1.00
R4656:Olfr390 UTSW 11 73787511 missense probably damaging 1.00
R5120:Olfr390 UTSW 11 73786964 missense probably benign 0.01
R5635:Olfr390 UTSW 11 73787634 missense probably benign 0.26
R6020:Olfr390 UTSW 11 73787552 missense probably benign 0.03
R6151:Olfr390 UTSW 11 73787695 nonsense probably null
R6885:Olfr390 UTSW 11 73787100 missense possibly damaging 0.94
R6984:Olfr390 UTSW 11 73787777 missense possibly damaging 0.91
R7057:Olfr390 UTSW 11 73787148 missense possibly damaging 0.88
R7120:Olfr390 UTSW 11 73787114 missense probably damaging 0.98
R7704:Olfr390 UTSW 11 73787790 missense probably damaging 1.00
Posted On2013-12-09