Incidental Mutation 'IGL03325:Olfr788'
ID416620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr788
Ensembl Gene ENSMUSG00000049217
Gene Nameolfactory receptor 788
SynonymsMOR111-4, GA_x6K02T2PULF-11151514-11152449
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL03325
Quality Score
Status
Chromosome10
Chromosomal Location129470998-129476618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129473605 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 304 (K304N)
Ref Sequence ENSEMBL: ENSMUSP00000151054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056961] [ENSMUST00000213222]
Predicted Effect probably benign
Transcript: ENSMUST00000056961
AA Change: K304N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000054710
Gene: ENSMUSG00000049217
AA Change: K304N

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.8e-49 PFAM
Pfam:7tm_1 38 287 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213222
AA Change: K304N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik A T 14: 49,243,820 probably benign Het
4930435E12Rik A T 16: 38,827,993 S251R probably damaging Het
Abca8b G A 11: 109,953,596 R870C possibly damaging Het
Abcf2 A T 5: 24,574,212 L113I probably damaging Het
Abi1 C T 2: 22,971,228 R106Q probably damaging Het
Arhgef28 A G 13: 97,899,816 V1645A probably benign Het
Ceacam1 G A 7: 25,476,487 A94V possibly damaging Het
Fat2 G A 11: 55,282,342 T2515I probably damaging Het
Gm4951 T A 18: 60,245,811 Y139* probably null Het
Gm5800 T C 14: 51,714,526 Y93C probably benign Het
Gnl1 A G 17: 35,988,656 D573G probably damaging Het
Gosr1 A G 11: 76,754,403 M105T probably benign Het
Gramd1c A T 16: 44,005,505 Y303N probably benign Het
Heatr9 A G 11: 83,513,259 probably null Het
Itih2 T C 2: 10,106,735 D464G probably damaging Het
Jcad T C 18: 4,673,902 Y555H probably benign Het
Krtap19-3 A T 16: 88,877,721 *88R probably null Het
Mrps11 T C 7: 78,790,705 F114S probably damaging Het
Nat8 A T 6: 85,830,893 V86E possibly damaging Het
Nek5 T C 8: 22,079,142 T555A probably benign Het
Pprc1 C T 19: 46,061,509 T10I possibly damaging Het
Prss16 A G 13: 22,003,247 V409A possibly damaging Het
Sema3d T A 5: 12,463,222 L53Q probably damaging Het
Sfmbt2 T C 2: 10,577,817 Y696H probably damaging Het
Sh2d3c C T 2: 32,725,258 A120V probably benign Het
Smn1 A G 13: 100,127,857 Y32C probably damaging Het
Sun2 C T 15: 79,738,648 R110Q probably benign Het
Tcp11l2 T G 10: 84,604,900 D323E possibly damaging Het
Tnni3k A T 3: 154,961,814 S296R probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Unc79 T A 12: 103,169,610 S2435T probably damaging Het
Vmn2r114 C A 17: 23,291,678 K609N probably damaging Het
Other mutations in Olfr788
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Olfr788 APN 10 129473211 missense probably damaging 1.00
IGL02393:Olfr788 APN 10 129473195 missense probably damaging 1.00
IGL03010:Olfr788 APN 10 129472974 missense probably damaging 1.00
R1298:Olfr788 UTSW 10 129473064 missense probably damaging 1.00
R2215:Olfr788 UTSW 10 129473420 missense probably damaging 0.99
R5482:Olfr788 UTSW 10 129473078 missense probably benign 0.31
R5699:Olfr788 UTSW 10 129472877 missense probably damaging 1.00
R5794:Olfr788 UTSW 10 129473426 missense possibly damaging 0.95
R6436:Olfr788 UTSW 10 129472904 missense probably damaging 0.98
R6480:Olfr788 UTSW 10 129472721 missense possibly damaging 0.62
R6884:Olfr788 UTSW 10 129473154 missense probably damaging 1.00
R7908:Olfr788 UTSW 10 129472998 missense probably damaging 1.00
R7989:Olfr788 UTSW 10 129472998 missense probably damaging 1.00
R8056:Olfr788 UTSW 10 129473192 missense probably benign 0.07
R8207:Olfr788 UTSW 10 129473084 missense probably benign 0.09
Z1176:Olfr788 UTSW 10 129473615 missense probably benign 0.04
Z1177:Olfr788 UTSW 10 129473064 missense probably damaging 1.00
Posted On2016-08-02