Incidental Mutation 'IGL01972:Olfr701'
ID181656
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: 0.110) question?
Stock #IGL01972
Quality Score
Status
Chromosome7
Chromosomal Location106814129-106821472 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 106818532 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 150 (I150V)
Ref Sequence ENSEMBL: ENSMUSP00000151783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075414] [ENSMUST00000080899] [ENSMUST00000166880] [ENSMUST00000217739] [ENSMUST00000219803]
Predicted Effect probably benign
Transcript: ENSMUST00000075414
AA Change: I150V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000074868
Gene: ENSMUSG00000036744
AA Change: I150V

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 benign
Transcript: ENSMUST00000166880
AA Change: I150V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000130958
Gene: ENSMUSG00000036744
AA Change: I150V

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 benign
Transcript: ENSMUST00000217739
AA Change: I150V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahr T G 12: 35,504,449 D557A possibly damaging Het
Akap11 T C 14: 78,507,857 Q1697R probably damaging Het
Alpi T A 1: 87,099,709 T312S probably damaging Het
Cacna1b C A 2: 24,635,095 probably null Het
Car5a C T 8: 121,927,082 probably null Het
Cubn T C 2: 13,446,072 T841A possibly damaging Het
Eml6 A T 11: 29,838,451 F545I possibly damaging Het
Fam114a2 G A 11: 57,509,394 T156I probably damaging Het
Fam160a2 T C 7: 105,390,145 N5S probably damaging Het
Fbxl21 C T 13: 56,536,859 R259* probably null Het
Gm5117 C T 8: 31,737,759 noncoding transcript Het
Hc T C 2: 34,983,772 Y1650C probably damaging Het
Med12l C A 3: 59,261,893 T1568K probably damaging Het
Olfr429 G T 1: 174,089,421 C127F probably damaging Het
Olfr996 T C 2: 85,579,773 F178S probably damaging Het
Orm3 A G 4: 63,359,326 S184G probably benign Het
Padi1 A G 4: 140,818,859 probably benign Het
Rnf133 T C 6: 23,648,989 T357A probably benign Het
Skiv2l2 T C 13: 112,881,061 K853E probably damaging Het
Tmem17 A G 11: 22,517,265 S60G probably benign Het
Ubqlnl G T 7: 104,149,697 Q198K probably benign Het
Vmn1r69 A T 7: 10,580,659 Y48* probably null Het
Zfp658 G A 7: 43,572,710 W136* probably null Het
Other mutations in Olfr701
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Olfr701 APN 7 106818620 missense probably damaging 1.00
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 On2014-05-07