Incidental Mutation 'IGL02691:Olfr681'
ID303732
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: 0.393) question?
Stock #IGL02691
Quality Score
Status
Chromosome7
Chromosomal Location105116836-105125523 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105122131 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 225 (I225V)
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: I225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: I225V

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: I225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215564
AA Change: I225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216247
AA Change: I225V

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,761,664 S40P probably benign Het
Actl9 G T 17: 33,433,118 V51L probably damaging Het
Adcy6 A T 15: 98,604,304 F143Y probably damaging Het
Agps A T 2: 75,891,860 I465F probably benign Het
Armc3 T A 2: 19,235,484 F17L probably damaging Het
Arsk A C 13: 76,074,950 M176R probably damaging Het
Asz1 G A 6: 18,076,557 T212I probably damaging Het
Atp6v1a A G 16: 44,111,619 I102T probably damaging Het
Bpifb6 T A 2: 153,902,645 L2Q unknown Het
Cad A G 5: 31,055,294 Y45C probably damaging Het
Ccdc93 A G 1: 121,486,613 D451G possibly damaging Het
Cenpj A G 14: 56,552,090 I834T probably benign Het
Cyp2j12 C T 4: 96,132,994 probably null Het
Dhx8 G A 11: 101,752,004 probably benign Het
Dync1i1 A G 6: 5,800,767 probably benign Het
Ell2 T A 13: 75,756,486 D99E probably damaging Het
Enpp1 G T 10: 24,711,892 P34T probably damaging Het
Fras1 T A 5: 96,744,705 V2888E possibly damaging Het
Gm10451 T C 12: 76,451,299 noncoding transcript Het
Gmfg A G 7: 28,444,870 Y40C probably damaging Het
Gnal T C 18: 67,222,675 I369T probably damaging Het
Gzmn T C 14: 56,166,913 T156A probably benign Het
H2-DMb2 A T 17: 34,147,858 H88L probably benign Het
Ighv7-3 T C 12: 114,153,396 T49A probably benign Het
Jakmip3 C T 7: 139,026,844 Q450* probably null Het
Klhl20 A T 1: 161,106,874 probably benign Het
Klk6 A G 7: 43,828,500 T99A probably benign Het
Lhx3 A G 2: 26,203,085 C118R probably damaging Het
Mapkbp1 T C 2: 119,973,174 probably benign Het
Naa15 A G 3: 51,451,326 E294G probably damaging Het
Nfia C T 4: 98,081,808 Q373* probably null Het
Notch2 C A 3: 98,135,607 Y1429* probably null Het
Oc90 A G 15: 65,882,561 S252P probably damaging Het
Olfr1084 T C 2: 86,638,838 Y290C probably damaging Het
Pde3b T A 7: 114,508,085 probably benign Het
Pdss1 G A 2: 22,915,241 V211I probably benign Het
Phactr1 G T 13: 43,077,737 M226I probably benign Het
Phf11c A G 14: 59,384,787 S259P probably damaging Het
Phf20l1 A G 15: 66,604,864 N269S probably damaging Het
Piezo1 A G 8: 122,501,949 V229A possibly damaging Het
Plcb2 T C 2: 118,710,963 K997R probably benign Het
Ppm1m A T 9: 106,195,369 V449E probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rgs14 A G 13: 55,379,023 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scamp5 G T 9: 57,451,377 R39S probably damaging Het
Slc5a6 C T 5: 31,042,174 V15I probably damaging Het
Snx25 A T 8: 46,105,265 V235E possibly damaging Het
Tdrd1 G T 19: 56,843,852 E400D probably damaging Het
Tln1 T C 4: 43,539,544 R1593G probably benign Het
Trdv2-2 T C 14: 53,961,582 F110L possibly damaging Het
Ush2a A C 1: 188,734,752 Y2871S probably damaging Het
Vars2 A C 17: 35,660,248 L592R probably damaging Het
Vipr2 T A 12: 116,136,229 C239S probably benign Het
Vmn1r200 A T 13: 22,395,258 D68V probably damaging Het
Vmn1r7 A T 6: 57,024,388 S296T probably benign Het
Vmn2r95 T C 17: 18,451,858 I619T probably benign Het
Other mutations in Olfr681
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Olfr681 APN 7 105122407 unclassified probably null
IGL01664:Olfr681 APN 7 105122216 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
Posted On2015-04-16