Incidental Mutation 'IGL01476:Olfr701'
ID88475
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr701
Ensembl Gene ENSMUSG00000036744
Gene Nameolfactory receptor 701
Synonyms4933433E02Rik, MOR283-1, GA_x6K02T2PBJ9-9195805-9196755, 4932441H21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01476
Quality Score
Status
Chromosome7
Chromosomal Location106814129-106821472 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106818620 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 179 (C179Y)
Ref Sequence ENSEMBL: ENSMUSP00000151783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075414] [ENSMUST00000080899] [ENSMUST00000166880] [ENSMUST00000217739] [ENSMUST00000219803]
Predicted Effect probably damaging
Transcript: ENSMUST00000075414
AA Change: C179Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074868
Gene: ENSMUSG00000036744
AA Change: C179Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-46 PFAM
Pfam:7tm_1 41 290 2.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080899
SMART Domains Protein: ENSMUSP00000079704
Gene: ENSMUSG00000056863

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 2.7e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 300 2.9e-8 PFAM
Pfam:7tm_1 41 290 1.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166880
AA Change: C179Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130958
Gene: ENSMUSG00000036744
AA Change: C179Y

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 5.8e-31 PFAM
Pfam:7tm_4 139 283 1.8e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209339
Predicted Effect probably damaging
Transcript: ENSMUST00000217739
AA Change: C179Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219803
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Abcc10 A G 17: 46,327,937 probably benign Het
Atp13a2 G A 4: 141,000,770 C558Y probably damaging Het
BC017643 T C 11: 121,225,845 Y86C probably damaging Het
Btbd1 G A 7: 81,801,049 R328* probably null Het
Cdk8 A G 5: 146,295,163 probably null Het
Chd8 A T 14: 52,205,490 N534K probably benign Het
Dlgap2 C T 8: 14,778,301 R570* probably null Het
Eri2 A C 7: 119,790,249 F149V probably damaging Het
Esyt1 A G 10: 128,511,494 M1054T probably damaging Het
Gcm2 A G 13: 41,105,741 V84A probably damaging Het
Gm597 A T 1: 28,777,453 H499Q probably benign Het
Got1 A C 19: 43,524,409 V16G probably damaging Het
Itga9 C T 9: 118,607,111 R62C probably damaging Het
Kif21a T C 15: 90,943,864 R1232G possibly damaging Het
Map1a A G 2: 121,305,207 Y1930C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr384 T C 11: 73,603,230 S217P probably damaging Het
Pclo A G 5: 14,521,108 K169R probably damaging Het
Rnf169 A C 7: 99,955,484 Y174D probably damaging Het
Sarm1 T C 11: 78,490,811 E282G probably damaging Het
Sec24a A G 11: 51,708,956 S840P possibly damaging Het
Skor2 A T 18: 76,858,667 Q28L unknown Het
Slc35f2 T C 9: 53,806,706 V168A possibly damaging Het
Slc6a7 A T 18: 61,005,773 L221Q probably damaging Het
Syt4 A T 18: 31,441,643 V307E probably damaging Het
Tasp1 A G 2: 140,008,773 L110S probably benign Het
Thnsl1 T A 2: 21,212,159 D241E probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tpbpb A T 13: 60,902,134 D60E probably benign Het
Trip11 T C 12: 101,898,911 I168V probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wscd2 A G 5: 113,572,321 D302G probably damaging Het
Other mutations in Olfr701
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01972:Olfr701 APN 7 106818532 missense probably benign 0.01
IGL02541:Olfr701 APN 7 106818602 missense probably benign 0.34
R0276:Olfr701 UTSW 7 106818697 missense probably benign 0.00
R0345:Olfr701 UTSW 7 106818701 missense probably benign 0.38
R0467:Olfr701 UTSW 7 106818361 missense possibly damaging 0.49
R1829:Olfr701 UTSW 7 106819007 missense probably benign
R3116:Olfr701 UTSW 7 106818364 missense probably damaging 0.98
R3870:Olfr701 UTSW 7 106818840 nonsense probably null
R5267:Olfr701 UTSW 7 106818808 missense probably damaging 1.00
R6036:Olfr701 UTSW 7 106818460 missense probably damaging 1.00
R6036:Olfr701 UTSW 7 106818460 missense probably damaging 1.00
R7229:Olfr701 UTSW 7 106818995 missense probably damaging 0.97
R7230:Olfr701 UTSW 7 106818179 missense possibly damaging 0.78
R7231:Olfr701 UTSW 7 106818443 missense probably damaging 1.00
R7419:Olfr701 UTSW 7 106818344 missense possibly damaging 0.89
R7537:Olfr701 UTSW 7 106818374 missense probably damaging 1.00
Posted On2013-11-18