Incidental Mutation 'IGL01726:Olfr678'
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ID105261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr678
Ensembl Gene ENSMUSG00000073913
Gene Nameolfactory receptor 678
SynonymsMOR32-5, GA_x6K02T2PBJ9-7698491-7699432
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL01726
Quality Score
Status
Chromosome7
Chromosomal Location105064475-105071639 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105069629 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 54 (E54G)
Ref Sequence ENSEMBL: ENSMUSP00000150213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098160] [ENSMUST00000213622]
Predicted Effect probably damaging
Transcript: ENSMUST00000098160
AA Change: E54G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095763
Gene: ENSMUSG00000073913
AA Change: E54G

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 2.2e-115 PFAM
Pfam:7TM_GPCR_Srsx 37 212 2.8e-6 PFAM
Pfam:7tm_1 43 293 8e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213622
AA Change: E54G

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,730,840 probably null Het
Arpc2 A G 1: 74,248,179 T53A probably benign Het
Ccdc170 C A 10: 4,549,713 L545M probably benign Het
Ccm2l T C 2: 153,080,901 probably benign Het
Celsr1 T C 15: 85,926,190 N2166D probably benign Het
Clca4b T G 3: 144,928,342 D104A probably damaging Het
Clcnka C T 4: 141,392,740 probably null Het
Clip2 A T 5: 134,522,664 N201K probably damaging Het
Cyp1a2 G A 9: 57,682,202 L110F possibly damaging Het
Dhtkd1 T C 2: 5,942,656 T6A unknown Het
Enthd1 A C 15: 80,452,451 L594R probably damaging Het
Espnl A G 1: 91,344,904 D618G probably benign Het
Gm6096 A T 7: 34,251,479 I148F probably damaging Het
Hsf5 C T 11: 87,636,125 T541I probably benign Het
Il18r1 A G 1: 40,498,403 S443G possibly damaging Het
Il1a T C 2: 129,304,720 D151G possibly damaging Het
Ints1 A G 5: 139,768,411 probably benign Het
Kcnh1 A C 1: 192,505,856 D875A possibly damaging Het
Naip6 T A 13: 100,303,252 I336F probably benign Het
Napepld A G 5: 21,675,659 F246S possibly damaging Het
Nova1 C T 12: 46,713,497 probably null Het
Nsa2 C A 13: 97,132,017 A181S probably damaging Het
Ntn5 C A 7: 45,694,247 R337S probably damaging Het
Nynrin T C 14: 55,864,154 S427P probably benign Het
Pcgf1 T A 6: 83,078,886 probably null Het
Pfn4 T A 12: 4,774,446 L58I probably benign Het
Plekha1 C A 7: 130,897,329 P116Q probably damaging Het
Pou5f2 T C 13: 78,025,181 S81P possibly damaging Het
Prag1 A G 8: 36,102,992 D243G probably damaging Het
Rbm26 G A 14: 105,152,507 P227L probably damaging Het
Rgl1 A T 1: 152,519,153 N756K probably damaging Het
Rhou A T 8: 123,654,141 T66S possibly damaging Het
Rspo3 A T 10: 29,504,708 D103E probably benign Het
Rundc3b T C 5: 8,520,902 K306E probably benign Het
Slc25a32 A G 15: 39,102,071 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Tarsl2 A G 7: 65,682,818 T556A possibly damaging Het
Tmem266 A G 9: 55,435,202 K324E probably benign Het
Tnrc6c T C 11: 117,749,335 probably benign Het
Trappc9 A T 15: 72,946,122 S452T probably damaging Het
Tspear T A 10: 77,881,287 probably benign Het
Ttll5 T G 12: 85,918,934 I571S probably benign Het
Ttn T C 2: 76,967,089 T544A probably benign Het
Ubn1 T C 16: 5,073,470 probably null Het
Ubr2 C A 17: 46,992,981 probably benign Het
Usp21 A T 1: 171,284,001 W360R probably damaging Het
Vmn2r62 A T 7: 42,765,102 L639H probably damaging Het
Zc3h7b T A 15: 81,771,799 I116N possibly damaging Het
Zfp618 C T 4: 63,132,635 T551I probably damaging Het
Zfp804b T C 5: 7,180,707 probably benign Het
Zkscan8 T C 13: 21,520,803 H322R probably benign Het
Zwint T G 10: 72,657,187 probably null Het
Other mutations in Olfr678
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Olfr678 APN 7 105069601 missense probably benign 0.44
IGL01469:Olfr678 APN 7 105070388 missense probably benign 0.05
IGL03263:Olfr678 APN 7 105070002 missense probably damaging 1.00
R1423:Olfr678 UTSW 7 105070019 missense probably damaging 1.00
R2181:Olfr678 UTSW 7 105070211 missense possibly damaging 0.88
R4594:Olfr678 UTSW 7 105069590 missense probably benign 0.00
R5376:Olfr678 UTSW 7 105070357 missense probably damaging 1.00
R5782:Olfr678 UTSW 7 105069749 missense probably damaging 1.00
R5847:Olfr678 UTSW 7 105069857 missense probably benign 0.01
R6418:Olfr678 UTSW 7 105070307 missense probably damaging 1.00
R6664:Olfr678 UTSW 7 105070188 missense possibly damaging 0.64
R7593:Olfr678 UTSW 7 105069497 missense probably benign 0.27
RF015:Olfr678 UTSW 7 105070048 missense probably damaging 1.00
Posted On2014-01-21