Incidental Mutation 'IGL00743:Olfr968'
ID12859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr968
Ensembl Gene ENSMUSG00000095903
Gene Nameolfactory receptor 968
SynonymsGA_x6K02T2PVTD-33470347-33469403, MOR171-15
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL00743
Quality Score
Status
Chromosome9
Chromosomal Location39768776-39783253 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39772111 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 230 (S230P)
Ref Sequence ENSEMBL: ENSMUSP00000148969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075928] [ENSMUST00000216458]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075928
AA Change: S230P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096472
Gene: ENSMUSG00000095903
AA Change: S230P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1e-51 PFAM
Pfam:7tm_1 41 290 2e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216458
AA Change: S230P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,619,686 E659G probably benign Het
Adgrg6 A C 10: 14,535,959 probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Chrnd G A 1: 87,192,927 W91* probably null Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Id2 C A 12: 25,095,356 E123* probably null Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr971 A T 9: 39,839,706 I91F probably benign Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Rnf183 T C 4: 62,428,373 T63A probably benign Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Slc9a7 T C X: 20,106,021 D708G possibly damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tmem52b A G 6: 129,516,715 D97G probably damaging Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Olfr968
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Olfr968 APN 9 39771997 missense probably benign 0.06
IGL01809:Olfr968 APN 9 39772694 nonsense probably null
IGL02517:Olfr968 APN 9 39772504 missense probably damaging 0.98
IGL02708:Olfr968 APN 9 39771918 missense probably damaging 1.00
IGL03061:Olfr968 APN 9 39772162 missense probably benign 0.41
K3955:Olfr968 UTSW 9 39772173 missense probably benign 0.00
R1786:Olfr968 UTSW 9 39772495 missense probably benign 0.00
R1897:Olfr968 UTSW 9 39772065 missense probably damaging 0.99
R2424:Olfr968 UTSW 9 39772297 missense probably benign 0.39
R3016:Olfr968 UTSW 9 39772683 missense probably benign 0.41
R3862:Olfr968 UTSW 9 39772624 missense probably benign 0.39
R5987:Olfr968 UTSW 9 39772540 missense probably benign 0.00
R5995:Olfr968 UTSW 9 39772692 missense probably benign 0.03
R6184:Olfr968 UTSW 9 39772620 missense probably damaging 1.00
R6297:Olfr968 UTSW 9 39772226 missense possibly damaging 0.45
R7402:Olfr968 UTSW 9 39771964 missense probably benign 0.45
R7650:Olfr968 UTSW 9 39771873 missense probably benign 0.01
R8179:Olfr968 UTSW 9 39771904 missense probably benign 0.00
X0028:Olfr968 UTSW 9 39772794 missense probably benign
Posted On2012-12-06