Incidental Mutation 'IGL01775:Olfr1030'
ID154067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1030
Ensembl Gene ENSMUSG00000044923
Gene Nameolfactory receptor 1030
SynonymsGA_x6K02T2Q125-47462755-47463693, MOR196-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL01775
Quality Score
Status
Chromosome2
Chromosomal Location85979276-85988294 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85984670 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 277 (S277P)
Ref Sequence ENSEMBL: ENSMUSP00000053309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056849]
Predicted Effect probably damaging
Transcript: ENSMUST00000056849
AA Change: S277P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923
AA Change: S277P

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 2.4e-58 PFAM
Pfam:7tm_1 47 296 3.2e-27 PFAM
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A T 10: 100,583,937 L94Q probably benign Het
Aatf A T 11: 84,471,137 L333Q probably damaging Het
Ablim3 A T 18: 61,816,918 probably benign Het
Acsl6 T C 11: 54,346,000 probably benign Het
Adra1b T A 11: 43,835,301 D263V probably damaging Het
Aicda G A 6: 122,561,053 V57M probably damaging Het
C2cd3 T C 7: 100,443,431 W494R probably damaging Het
Ccnb1 T C 13: 100,783,509 S165G probably benign Het
Cnot4 A T 6: 35,069,476 probably benign Het
Dph6 A T 2: 114,518,295 probably benign Het
Emc3 A G 6: 113,531,335 S50P possibly damaging Het
Fbxo45 A C 16: 32,233,275 probably null Het
Gm14496 A T 2: 182,000,332 T599S probably benign Het
Gspt1 T C 16: 11,223,295 I535V possibly damaging Het
Hemk1 A G 9: 107,330,796 I215T possibly damaging Het
Ighm A T 12: 113,422,467 C88S unknown Het
Itih2 A C 2: 10,129,286 D38E probably benign Het
Lat C A 7: 126,368,089 V113L probably benign Het
Micalcl T A 7: 112,382,062 F480L possibly damaging Het
Mki67 A T 7: 135,698,276 S1676R possibly damaging Het
Msh2 A T 17: 87,682,646 N254I possibly damaging Het
Naglu T C 11: 101,074,095 M336T probably damaging Het
Nhsl1 C T 10: 18,524,474 R483C probably damaging Het
Nsmaf C T 4: 6,396,791 E899K possibly damaging Het
Nup85 T C 11: 115,580,767 Y181H probably damaging Het
Olfr666 A T 7: 104,893,292 M112K possibly damaging Het
Olfr855 A T 9: 19,584,705 Q56L probably benign Het
Olfr937 C A 9: 39,060,467 L66F probably damaging Het
P2rx3 C T 2: 85,024,157 R91H probably benign Het
Plag1 T C 4: 3,904,513 D226G probably damaging Het
Pofut1 T A 2: 153,248,473 F96I probably damaging Het
Prim1 A G 10: 128,029,243 N399S probably benign Het
Prkd3 G T 17: 79,012,760 T51K probably damaging Het
Ptprc T C 1: 138,064,759 Y1210C probably damaging Het
Rbm43 A T 2: 51,925,448 S254T probably damaging Het
Retsat G A 6: 72,607,317 R528Q probably damaging Het
Rps8 C A 4: 117,155,052 R56L probably benign Het
Samhd1 A T 2: 157,114,330 probably benign Het
Sfxn1 T C 13: 54,105,739 probably benign Het
Stk33 T A 7: 109,312,367 E396D possibly damaging Het
Tcaim T C 9: 122,818,825 V135A probably damaging Het
Thsd7b A G 1: 129,628,939 D421G probably damaging Het
Unc80 A G 1: 66,601,056 D1374G possibly damaging Het
Wnk2 C A 13: 49,071,110 D232Y probably damaging Het
Zfand1 T C 3: 10,344,866 T145A probably damaging Het
Other mutations in Olfr1030
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01795:Olfr1030 APN 2 85984134 missense probably damaging 1.00
IGL02395:Olfr1030 APN 2 85984082 missense possibly damaging 0.76
IGL03277:Olfr1030 APN 2 85984173 missense probably damaging 0.99
PIT4468001:Olfr1030 UTSW 2 85984448 missense probably benign 0.10
R0458:Olfr1030 UTSW 2 85984256 missense probably benign 0.00
R1114:Olfr1030 UTSW 2 85984307 missense probably benign
R1642:Olfr1030 UTSW 2 85983857 missense probably benign 0.00
R2189:Olfr1030 UTSW 2 85984068 missense probably damaging 1.00
R4094:Olfr1030 UTSW 2 85984218 missense probably damaging 1.00
R4246:Olfr1030 UTSW 2 85984280 missense possibly damaging 0.90
R4677:Olfr1030 UTSW 2 85983971 missense possibly damaging 0.61
R5537:Olfr1030 UTSW 2 85984226 missense possibly damaging 0.83
R6018:Olfr1030 UTSW 2 85984804 utr 3 prime probably benign
R6531:Olfr1030 UTSW 2 85984307 missense probably benign
R7367:Olfr1030 UTSW 2 85984343 missense possibly damaging 0.68
R7611:Olfr1030 UTSW 2 85984063 nonsense probably null
R7693:Olfr1030 UTSW 2 85984635 missense probably damaging 1.00
R7753:Olfr1030 UTSW 2 85984716 missense possibly damaging 0.75
Posted On2014-02-04