Incidental Mutation 'IGL02073:Olfr250'
ID185886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr250
Ensembl Gene ENSMUSG00000049864
Gene Nameolfactory receptor 250
SynonymsGA_x6K02T2MYUG-19447-18473, MOR170-14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL02073
Quality Score
Status
Chromosome9
Chromosomal Location38366896-38371355 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 38368307 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 244 (H244Y)
Ref Sequence ENSEMBL: ENSMUSP00000150432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052085] [ENSMUST00000216168]
Predicted Effect probably damaging
Transcript: ENSMUST00000052085
AA Change: H254Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051631
Gene: ENSMUSG00000049864
AA Change: H254Y

DomainStartEndE-ValueType
Pfam:7tm_4 41 317 1.2e-46 PFAM
Pfam:7tm_1 51 300 3.7e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216168
AA Change: H244Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 157,208,402 probably benign Het
6330409D20Rik T G 2: 32,740,686 probably benign Het
Als2cl A G 9: 110,894,339 K659E probably benign Het
Bbx G A 16: 50,202,491 T702I probably damaging Het
Bcas3 A G 11: 85,557,437 D405G probably damaging Het
Brpf3 A G 17: 28,807,396 Y481C probably benign Het
Csnk1g1 T A 9: 66,002,251 Y217N probably damaging Het
Cyp4f37 G T 17: 32,627,851 V171L possibly damaging Het
Dock8 G A 19: 25,200,986 probably null Het
Extl3 C A 14: 65,076,339 G465W probably damaging Het
Fam208b T C 13: 3,574,721 D1743G probably benign Het
Fbxo10 A G 4: 45,046,349 I587T possibly damaging Het
Fstl5 A C 3: 76,659,652 probably benign Het
Gabbr2 T C 4: 46,667,547 N866S probably benign Het
Gm4871 T A 5: 145,032,578 K44* probably null Het
Hnrnpul1 T C 7: 25,722,341 probably benign Het
Jup A G 11: 100,383,389 probably benign Het
Mccc2 A T 13: 100,000,275 H57Q probably benign Het
Myo1a A T 10: 127,710,225 D239V probably damaging Het
Ncapd3 T A 9: 27,063,316 S695T probably benign Het
Ncor1 A T 11: 62,358,917 S1052T probably damaging Het
Olfr175-ps1 A G 16: 58,823,806 I301T probably benign Het
Olfr834 T A 9: 18,988,325 N112K possibly damaging Het
Pcnx3 A T 19: 5,679,386 I526K probably damaging Het
Pcnx4 A G 12: 72,574,328 D974G possibly damaging Het
Peg3 T C 7: 6,711,002 E407G probably damaging Het
Polk A G 13: 96,504,551 V166A probably damaging Het
Prkar2a A G 9: 108,733,123 I184V probably damaging Het
Ptpa T C 2: 30,443,350 S64P probably damaging Het
Rbsn A G 6: 92,189,359 L768P probably damaging Het
Ripk3 C T 14: 55,786,025 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1b T C 11: 51,789,193 probably benign Het
Slx A T X: 26,534,455 W89R probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,070,104 I2561V probably benign Het
Tm7sf3 A G 6: 146,623,710 L79P possibly damaging Het
Trub1 A T 19: 57,452,947 M1L probably benign Het
Unc80 A G 1: 66,612,227 D1577G possibly damaging Het
Vat1 A T 11: 101,460,579 M312K possibly damaging Het
Vmn1r17 T C 6: 57,360,802 I193V probably benign Het
Vps13b A G 15: 35,875,586 I2706V possibly damaging Het
Wls T C 3: 159,907,253 probably null Het
Zfp955b A G 17: 33,300,590 T11A possibly damaging Het
Other mutations in Olfr250
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Olfr250 APN 9 38368050 missense probably benign 0.01
IGL02499:Olfr250 APN 9 38367681 missense probably benign 0.12
IGL03011:Olfr250 APN 9 38368068 missense possibly damaging 0.89
R0313:Olfr250 UTSW 9 38368304 missense probably damaging 1.00
R1457:Olfr250 UTSW 9 38368196 missense probably benign 0.01
R1546:Olfr250 UTSW 9 38367548 start codon destroyed probably benign
R1665:Olfr250 UTSW 9 38367566 missense probably benign
R1718:Olfr250 UTSW 9 38367594 missense probably benign 0.00
R1861:Olfr250 UTSW 9 38367606 missense probably benign 0.08
R1900:Olfr250 UTSW 9 38368064 missense probably benign 0.05
R2363:Olfr250 UTSW 9 38368098 missense probably damaging 1.00
R4270:Olfr250 UTSW 9 38367701 missense probably damaging 1.00
R5058:Olfr250 UTSW 9 38367924 missense probably damaging 1.00
R5083:Olfr250 UTSW 9 38368062 missense possibly damaging 0.87
R5422:Olfr250 UTSW 9 38367974 missense probably benign 0.05
R5630:Olfr250 UTSW 9 38368106 missense probably damaging 1.00
R6559:Olfr250 UTSW 9 38367756 missense probably damaging 1.00
Posted On2014-05-07