Incidental Mutation 'R5058:Olfr250'
ID391028
Institutional Source Beutler Lab
Gene Symbol Olfr250
Ensembl Gene ENSMUSG00000049864
Gene Nameolfactory receptor 250
SynonymsGA_x6K02T2MYUG-19447-18473, MOR170-14
MMRRC Submission 042648-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R5058 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location38366896-38371355 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 38367924 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 116 (T116K)
Ref Sequence ENSEMBL: ENSMUSP00000150432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052085] [ENSMUST00000216168]
Predicted Effect probably damaging
Transcript: ENSMUST00000052085
AA Change: T126K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051631
Gene: ENSMUSG00000049864
AA Change: T126K

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: T116K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,242,625 Y222C probably damaging Het
Adprhl2 A G 4: 126,318,445 S94P probably damaging Het
Atp11b A G 3: 35,809,361 E202G probably benign Het
Cacna1d G T 14: 30,114,244 S849* probably null Het
Camsap1 T C 2: 25,939,363 D783G probably benign Het
Cbfa2t2 T A 2: 154,504,745 I124N probably damaging Het
Ccdc13 A T 9: 121,817,547 probably benign Het
Cfap44 G A 16: 44,420,204 probably null Het
Col17a1 C A 19: 47,685,550 E13* probably null Het
Cybb C G X: 9,450,750 D246H probably benign Het
Dennd6b A G 15: 89,187,350 L288P possibly damaging Het
Dhx37 A C 5: 125,422,231 Y638D probably benign Het
Epb41 G A 4: 132,007,435 probably benign Het
Esp31 A T 17: 38,644,609 I48L possibly damaging Het
Fat3 T C 9: 15,996,858 Q2616R probably damaging Het
Fbxo33 A G 12: 59,219,133 I116T probably benign Het
Flnb G T 14: 7,924,262 E1792* probably null Het
Fzd2 G A 11: 102,604,807 G26R probably damaging Het
Gm11677 T A 11: 111,725,438 noncoding transcript Het
Gm7137 A T 10: 77,788,071 probably benign Het
Hnrnpr A G 4: 136,336,337 T252A possibly damaging Het
Hyal5 T C 6: 24,891,485 F433L probably damaging Het
Kcnmb4 T A 10: 116,463,928 probably benign Het
Meltf A G 16: 31,887,603 probably null Het
Mllt6 G A 11: 97,669,500 S210N possibly damaging Het
Muc6 T C 7: 141,644,224 D1213G probably benign Het
Ncam1 A C 9: 49,798,695 F12C probably benign Het
Nfxl1 A T 5: 72,556,239 D120E probably benign Het
Nrg1 T C 8: 31,824,559 Q142R probably damaging Het
Olfr132 G A 17: 38,130,541 S217F probably damaging Het
Olfr180 T C 16: 58,916,072 T190A probably benign Het
Olfr347 T G 2: 36,734,999 L226R possibly damaging Het
Olfr466 C A 13: 65,152,929 A235D possibly damaging Het
Olfr684 T C 7: 105,157,148 N178S probably damaging Het
Olfr948 C A 9: 39,318,664 V317L probably benign Het
Olfr95 A G 17: 37,211,667 L62P probably damaging Het
Padi2 G T 4: 140,932,121 V246L probably benign Het
Pgghg C T 7: 140,942,542 T63I possibly damaging Het
Pitpnm1 A G 19: 4,112,758 N1117S probably benign Het
Plch1 G T 3: 63,722,781 T534K probably damaging Het
Poc1a G T 9: 106,349,813 probably benign Het
Polr3c T C 3: 96,723,517 I196V probably benign Het
Prph A T 15: 99,055,232 probably benign Het
Ptprg C A 14: 12,037,387 T189K possibly damaging Het
R3hcc1 A T 14: 69,704,014 I183N probably damaging Het
Rundc1 T C 11: 101,425,537 L145P probably benign Het
Slc26a3 A G 12: 31,470,965 K723E possibly damaging Het
Slc38a3 T C 9: 107,659,191 E2G possibly damaging Het
Slc9a5 G T 8: 105,355,858 V252L probably benign Het
Smim26 C T 2: 144,595,123 T64M probably benign Het
Socs4 C T 14: 47,290,132 R175* probably null Het
Srebf2 T C 15: 82,182,050 S600P probably damaging Het
Tas2r107 A T 6: 131,659,742 S115T probably damaging Het
Tenm2 T C 11: 36,207,080 D447G possibly damaging Het
Thbs2 T A 17: 14,676,329 D766V probably damaging Het
Tinagl1 A G 4: 130,167,457 V300A probably benign Het
Tle6 T A 10: 81,594,238 N332I possibly damaging Het
Tle6 C A 10: 81,595,957 W151L probably damaging Het
Tnfrsf13c C T 15: 82,224,207 V36M probably damaging Het
Tns2 T C 15: 102,107,860 I211T possibly damaging Het
Trp63 A G 16: 25,882,594 N379D probably damaging Het
Trpc2 T C 7: 102,089,109 W433R probably damaging Het
Tyw1 T A 5: 130,277,086 L350Q probably benign Het
Usf3 T C 16: 44,212,707 L76P probably damaging Het
Vmn2r79 T C 7: 87,002,215 L274P probably damaging Het
Other mutations in Olfr250
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Olfr250 APN 9 38368050 missense probably benign 0.01
IGL02073:Olfr250 APN 9 38368307 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTCTGAATTCTCATCTGCACACAC -3'
(R):5'- TACCACAGGAGAGCTCAAGG -3'

Sequencing Primer
(F):5'- TGAATTCTCATCTGCACACACCAATG -3'
(R):5'- GTAGTGGTTGATTACTTTTGAACCAC -3'
Posted On2016-06-06