Incidental Mutation 'IGL01664:Olfr681'
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ID103264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr681
Ensembl Gene ENSMUSG00000095248
Gene Nameolfactory receptor 681
SynonymsMOR40-14, GA_x6K02T2PBJ9-7750163-7751110
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.433) question?
Stock #IGL01664
Quality Score
Status
Chromosome7
Chromosomal Location105116836-105125523 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105122216 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 253 (L253Q)
Ref Sequence ENSEMBL: ENSMUSP00000150733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071242] [ENSMUST00000098157] [ENSMUST00000214399] [ENSMUST00000215517] [ENSMUST00000215564] [ENSMUST00000216247]
Predicted Effect probably benign
Transcript: ENSMUST00000071242
SMART Domains Protein: ENSMUSP00000071223
Gene: ENSMUSG00000059768

DomainStartEndE-ValueType
Pfam:7tm_4 23 299 1.2e-71 PFAM
Pfam:7TM_GPCR_Srsx 27 297 3.9e-10 PFAM
Pfam:7tm_1 33 283 3.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071242
Predicted Effect probably damaging
Transcript: ENSMUST00000098157
AA Change: L253Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: L253Q

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2e-72 PFAM
Pfam:7TM_GPCR_Srsx 39 311 6.1e-10 PFAM
Pfam:7tm_1 45 296 7.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215180
Predicted Effect probably damaging
Transcript: ENSMUST00000215517
AA Change: L253Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215564
AA Change: L253Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216247
AA Change: L253Q

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col19a1 T A 1: 24,561,335 Y42F unknown Het
Ddx31 T C 2: 28,875,835 probably benign Het
Fbln2 G A 6: 91,233,457 D128N probably damaging Het
Fgf7 G T 2: 126,035,987 M91I probably benign Het
Gm28539 A G 16: 18,836,773 H31R possibly damaging Het
Hivep1 T G 13: 42,159,279 V1665G probably benign Het
Ifih1 T C 2: 62,611,700 probably benign Het
Il10 G T 1: 131,021,477 R125L possibly damaging Het
Kalrn C T 16: 34,294,161 R574H probably damaging Het
Lmln A G 16: 33,080,987 E251G probably benign Het
Olfr1507 T C 14: 52,490,545 N57D probably benign Het
Olfr668 T C 7: 104,925,104 Y220C probably damaging Het
Otol1 A G 3: 70,027,797 D374G probably benign Het
Pcdhb15 T C 18: 37,474,261 V182A probably benign Het
Polr3e T C 7: 120,931,317 probably benign Het
Sectm1a A T 11: 121,069,044 S149T possibly damaging Het
Slfn10-ps A G 11: 83,035,935 noncoding transcript Het
Sox1ot A G 8: 12,430,670 noncoding transcript Het
Tnik G T 3: 28,638,479 G895C probably damaging Het
Other mutations in Olfr681
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Olfr681 APN 7 105122407 unclassified probably null
IGL02691:Olfr681 APN 7 105122131 missense probably damaging 1.00
IGL02839:Olfr681 APN 7 105122356 missense probably damaging 1.00
R0533:Olfr681 UTSW 7 105122350 missense probably benign 0.11
R1139:Olfr681 UTSW 7 105121973 missense probably damaging 1.00
R1857:Olfr681 UTSW 7 105121544 missense probably benign 0.00
R4153:Olfr681 UTSW 7 105122309 missense probably damaging 0.99
R4391:Olfr681 UTSW 7 105121586 missense possibly damaging 0.60
R4537:Olfr681 UTSW 7 105127020 missense probably damaging 1.00
R4671:Olfr681 UTSW 7 105122306 missense probably damaging 1.00
R4789:Olfr681 UTSW 7 105122313 missense probably null 0.07
R5215:Olfr681 UTSW 7 105126564 missense probably damaging 1.00
R6080:Olfr681 UTSW 7 105121909 missense probably benign 0.19
R6194:Olfr681 UTSW 7 105122170 missense probably benign 0.07
R7054:Olfr681 UTSW 7 105121963 nonsense probably null
R7186:Olfr681 UTSW 7 105122266 missense probably benign 0.12
R7528:Olfr681 UTSW 7 105121864 missense probably damaging 1.00
R8035:Olfr681 UTSW 7 105121550 missense probably damaging 1.00
Z1176:Olfr681 UTSW 7 105122120 missense probably damaging 1.00
Z1176:Olfr681 UTSW 7 105122122 missense probably damaging 1.00
Posted On2014-01-21