Incidental Mutation 'IGL00402:Olfr390'
ID13663
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: 0.089) question?
Stock #IGL00402
Quality Score
Status
Chromosome11
Chromosomal Location73782964-73790446 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73787580 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 214 (I214N)
Ref Sequence ENSEMBL: ENSMUSP00000148992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]
Predicted Effect probably damaging
Transcript: ENSMUST00000092919
AA Change: I214N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: I214N

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 probably damaging
Transcript: ENSMUST00000120081
AA Change: I214N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: I214N

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 benign
Transcript: ENSMUST00000206815
Predicted Effect probably damaging
Transcript: ENSMUST00000215161
AA Change: I214N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,295,191 L846H probably benign Het
Abca6 A T 11: 110,184,709 L1319I probably damaging Het
Apob C T 12: 7,993,065 probably benign Het
Atg16l2 A C 7: 101,296,153 S268R probably benign Het
Atp1b3 T C 9: 96,333,703 probably benign Het
Atxn7 T G 14: 14,096,324 probably benign Het
Birc6 G A 17: 74,573,563 probably benign Het
C330027C09Rik T A 16: 49,001,815 H234Q probably damaging Het
C4b G A 17: 34,734,428 T1027I probably damaging Het
Caskin1 T C 17: 24,503,889 I577T probably damaging Het
Cbx6 A G 15: 79,828,929 V99A possibly damaging Het
Ccr9 A C 9: 123,780,044 I252L probably benign Het
Cdh8 A T 8: 99,279,690 D88E probably damaging Het
Cep135 T C 5: 76,601,459 S258P probably damaging Het
Cep57l1 T G 10: 41,721,551 probably benign Het
Col12a1 T C 9: 79,681,537 T1099A possibly damaging Het
Col4a4 C T 1: 82,491,641 G802D unknown Het
Ddx41 T C 13: 55,531,399 T545A probably damaging Het
Disc1 A T 8: 125,088,275 T293S probably benign Het
Fam13b A T 18: 34,454,718 V509D probably damaging Het
Ffar4 C T 19: 38,107,389 P192L probably benign Het
Fn1 C A 1: 71,641,163 C461F probably damaging Het
Gm14226 G T 2: 155,025,158 S345I probably damaging Het
Gopc T C 10: 52,349,230 K308E probably damaging Het
Hapln2 A T 3: 88,024,334 N28K possibly damaging Het
Hectd1 T C 12: 51,769,108 S1394G possibly damaging Het
Hectd1 T C 12: 51,759,432 H1807R probably benign Het
Ifnl2 A T 7: 28,508,865 V193D possibly damaging Het
Il1rap T A 16: 26,722,401 M464K possibly damaging Het
Krtap16-1 A T 11: 99,985,731 C282* probably null Het
Ltv1 C T 10: 13,190,583 V100I probably benign Het
Mcf2l T C 8: 13,000,857 S308P probably damaging Het
Narf G A 11: 121,238,518 probably null Het
Nmd3 T A 3: 69,745,240 N386K possibly damaging Het
Noxo1 C T 17: 24,698,936 probably benign Het
Ppic C T 18: 53,409,294 G114D probably damaging Het
Ppp4r1 T C 17: 65,816,019 S339P probably benign Het
Ptprg T A 14: 12,215,992 L1147Q probably damaging Het
Qser1 A G 2: 104,786,981 V1072A probably benign Het
Rad54l2 T A 9: 106,700,561 M1054L probably benign Het
Scara5 A C 14: 65,738,415 probably benign Het
Smtnl2 C T 11: 72,403,259 probably benign Het
Spink8 A T 9: 109,819,219 I25F probably benign Het
Vit G A 17: 78,601,907 probably null Het
Vps13b A G 15: 35,926,226 D3891G possibly damaging Het
Zfp207 T A 11: 80,393,085 M277K probably benign Het
Zp2 T C 7: 120,133,400 D641G probably benign Het
Other mutations in Olfr390
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Olfr390 APN 11 73787277 missense probably damaging 0.99
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
Posted On2012-12-06