Incidental Mutation 'IGL02559:Olfr1404'
ID298617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1404
Ensembl Gene ENSMUSG00000049456
Gene Nameolfactory receptor 1404
SynonymsGA_x6K02T2R7CC-630397-629456, MOR267-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.311) question?
Stock #IGL02559
Quality Score
Status
Chromosome1
Chromosomal Location173212392-173218583 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 173216521 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 290 (V290A)
Ref Sequence ENSEMBL: ENSMUSP00000151077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049706] [ENSMUST00000056592] [ENSMUST00000193017] [ENSMUST00000216556] [ENSMUST00000217374]
Predicted Effect probably benign
Transcript: ENSMUST00000049706
SMART Domains Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 34 108 1.08e-8 SMART
IG 116 193 1.37e-1 SMART
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000056592
AA Change: V290A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050406
Gene: ENSMUSG00000049456
AA Change: V290A

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 7.9e-55 PFAM
Pfam:7tm_1 42 291 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193017
SMART Domains Protein: ENSMUSP00000141932
Gene: ENSMUSG00000005339

DomainStartEndE-ValueType
IG_like 9 52 4.8e-1 SMART
IG 60 137 5.7e-4 SMART
transmembrane domain 144 166 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000216556
AA Change: V290A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217374
AA Change: V290A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,687,070 Q1004* probably null Het
Bahcc1 A G 11: 120,285,172 D1914G probably damaging Het
Bcl11b A T 12: 107,915,394 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col24a1 A T 3: 145,314,173 I102F probably benign Het
Col7a1 C T 9: 108,973,216 R2063C unknown Het
Ddo T A 10: 40,647,521 L169Q probably damaging Het
Defb4 G T 8: 19,201,297 C60F probably damaging Het
Dock9 A T 14: 121,625,147 probably benign Het
Dysf A T 6: 84,067,446 probably benign Het
Fasn G A 11: 120,809,066 A2253V possibly damaging Het
Fbxw26 T C 9: 109,722,164 D355G probably benign Het
Gak C T 5: 108,584,232 E797K probably null Het
Gm10654 T C 8: 70,932,130 noncoding transcript Het
Gnas T C 2: 174,341,936 probably benign Het
Hdac3 A G 18: 37,954,891 F8S probably damaging Het
Hist1h2bj T A 13: 22,043,363 V45E possibly damaging Het
Hrh4 T C 18: 13,007,244 probably null Het
Klhl1 A G 14: 96,151,960 V586A possibly damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Mmp28 G T 11: 83,447,740 N128K probably benign Het
Mndal T C 1: 173,872,920 T162A probably benign Het
Myh3 A G 11: 67,101,095 E1822G possibly damaging Het
Mylpf A G 7: 127,214,143 Y133C probably damaging Het
Nup210l G A 3: 90,159,953 A767T probably benign Het
Olfr221 A G 14: 52,036,007 Y35H probably damaging Het
Olfr666 T A 7: 104,892,954 R225W probably benign Het
Paics A G 5: 76,964,604 I312V possibly damaging Het
Pkdrej G T 15: 85,817,848 Q1296K probably benign Het
Ppil2 T C 16: 17,109,651 K26E possibly damaging Het
Rufy1 A G 11: 50,420,483 F170L probably damaging Het
Shcbp1 T A 8: 4,749,305 E93V probably damaging Het
Slamf1 T A 1: 171,767,258 I11K possibly damaging Het
Slc5a5 C T 8: 70,890,271 G215D probably damaging Het
Slco1a1 A T 6: 141,921,788 V473D probably benign Het
Slit1 A G 19: 41,721,085 V123A probably benign Het
Srgap2 A C 1: 131,524,936 probably null Het
Stk32c T C 7: 139,120,690 M208V probably benign Het
Syt15 T C 14: 34,221,803 V103A probably benign Het
Tacc2 T A 7: 130,759,267 L456Q probably damaging Het
Tanc1 A G 2: 59,724,654 probably benign Het
Tepsin G T 11: 120,096,905 D62E probably benign Het
Thap3 T C 4: 151,983,687 D106G probably benign Het
Ttn T C 2: 76,786,217 D14818G probably damaging Het
Txndc2 T C 17: 65,639,590 N39S possibly damaging Het
Ubxn11 A G 4: 134,124,943 E200G probably damaging Het
Vmn2r11 T G 5: 109,052,180 Q469P probably damaging Het
Yipf2 T C 9: 21,592,186 T22A probably damaging Het
Other mutations in Olfr1404
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Olfr1404 APN 1 173215873 missense probably damaging 0.99
IGL01411:Olfr1404 APN 1 173216128 missense probably benign 0.01
IGL02533:Olfr1404 APN 1 173216061 missense probably damaging 0.99
R0233:Olfr1404 UTSW 1 173216301 missense probably benign 0.25
R0233:Olfr1404 UTSW 1 173216301 missense probably benign 0.25
R0245:Olfr1404 UTSW 1 173215957 missense possibly damaging 0.54
R0652:Olfr1404 UTSW 1 173215957 missense possibly damaging 0.54
R1613:Olfr1404 UTSW 1 173215867 missense probably benign 0.41
R1939:Olfr1404 UTSW 1 173215932 missense probably benign 0.00
R2062:Olfr1404 UTSW 1 173215710 missense probably benign 0.00
R2074:Olfr1404 UTSW 1 173215810 missense probably damaging 0.98
R6045:Olfr1404 UTSW 1 173216500 missense possibly damaging 0.94
R6681:Olfr1404 UTSW 1 173216406 missense probably damaging 1.00
R7192:Olfr1404 UTSW 1 173216008 missense probably damaging 0.98
Posted On2015-04-16