Incidental Mutation 'R1588:Olfr71'
ID177626
Institutional Source Beutler Lab
Gene Symbol Olfr71
Ensembl Gene ENSMUSG00000046450
Gene Nameolfactory receptor 71
SynonymsGA_x6K02T2N78B-16230286-16231224, mOR17, MOR262-4
MMRRC Submission 039625-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.182) question?
Stock #R1588 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location43704562-43710255 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 43705923 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 215 (C215Y)
Ref Sequence ENSEMBL: ENSMUSP00000149725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055401] [ENSMUST00000107862] [ENSMUST00000217544]
Predicted Effect probably damaging
Transcript: ENSMUST00000055401
AA Change: C215Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: C215Y

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 2.4e-34 PFAM
Pfam:7tm_4 139 283 4.5e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107862
AA Change: C215Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: C215Y

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 2.2e-52 PFAM
Pfam:7tm_1 41 290 7.5e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217544
AA Change: C215Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,534,072 V869A probably benign Het
Ablim1 C T 19: 57,083,547 M1I probably null Het
Adamts13 A T 2: 26,975,675 I81F probably benign Het
Akap11 A T 14: 78,510,245 N1567K possibly damaging Het
Arrdc4 G A 7: 68,741,736 T261M possibly damaging Het
C4b T C 17: 34,741,025 I326V probably benign Het
Casp8ap2 G A 4: 32,640,541 A532T probably benign Het
Ccdc129 A G 6: 55,978,503 E1032G possibly damaging Het
Ccdc134 A G 15: 82,135,136 T187A probably benign Het
Cdh8 T C 8: 99,190,407 N359D probably damaging Het
Cep97 A G 16: 55,927,821 L82P probably damaging Het
Cfap53 A T 18: 74,307,373 R404S probably benign Het
Chrng C A 1: 87,207,507 F179L probably damaging Het
Ddi1 A T 9: 6,265,391 I326K probably damaging Het
Decr2 T C 17: 26,083,028 T243A possibly damaging Het
Dip2c T C 13: 9,665,864 V1502A probably damaging Het
Edem1 T C 6: 108,841,679 V216A probably damaging Het
Fat2 A C 11: 55,283,404 V2161G probably damaging Het
Fbn1 T C 2: 125,319,114 T2169A probably benign Het
Fmn1 T C 2: 113,365,698 V581A unknown Het
Gm13088 G T 4: 143,655,551 L192M probably damaging Het
Hip1r A T 5: 123,996,575 D350V probably damaging Het
Ift140 G A 17: 25,087,985 R898H probably damaging Het
Il12a A G 3: 68,695,563 I159V probably benign Het
Kl A G 5: 150,982,632 E489G probably benign Het
Klhl3 T C 13: 58,013,898 E461G probably damaging Het
Masp1 T C 16: 23,494,654 Y177C probably damaging Het
Nop58 T A 1: 59,702,872 Y187N probably damaging Het
Npc1l1 A G 11: 6,217,785 V1002A probably benign Het
Ntrk1 A T 3: 87,780,077 Y683* probably null Het
Olfr1053 T C 2: 86,314,530 Y252C probably damaging Het
Olfr1362 C T 13: 21,611,913 D19N probably benign Het
Olfr742 A G 14: 50,516,127 I308V probably benign Het
Osbpl6 T C 2: 76,579,216 V367A probably benign Het
Phip A G 9: 82,900,828 W855R probably damaging Het
Phlpp1 A G 1: 106,380,385 S1131G probably damaging Het
Pkdrej A T 15: 85,817,241 V1498E probably benign Het
Prkaa2 T C 4: 105,051,223 N152D probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Pxdn G A 12: 30,002,559 V732M probably damaging Het
Rccd1 C T 7: 80,320,111 W223* probably null Het
Riox2 T A 16: 59,475,583 S16T possibly damaging Het
Scn5a C T 9: 119,521,301 V836I probably damaging Het
Serpinf1 G A 11: 75,410,250 R380C probably damaging Het
Sf3b1 A T 1: 54,997,177 N912K probably benign Het
Shprh T A 10: 11,164,744 C134S probably damaging Het
Skint8 T A 4: 111,928,727 C123* probably null Het
Slc16a13 G T 11: 70,218,595 S360* probably null Het
Srr A G 11: 74,908,803 I282T possibly damaging Het
Trpm1 T C 7: 64,223,817 F607L possibly damaging Het
Ttn T C 2: 76,709,526 D34372G probably benign Het
Tub C T 7: 109,029,681 T401I probably damaging Het
Wdhd1 T C 14: 47,256,236 E9G probably damaging Het
Wdyhv1 T A 15: 58,157,889 probably null Het
Yipf3 T A 17: 46,250,861 F198Y possibly damaging Het
Zfp955a C T 17: 33,241,817 R447K probably benign Het
Other mutations in Olfr71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02317:Olfr71 APN 4 43706172 missense probably damaging 1.00
R0597:Olfr71 UTSW 4 43706592 unclassified probably null
R0610:Olfr71 UTSW 4 43706400 missense possibly damaging 0.69
R1619:Olfr71 UTSW 4 43706292 missense probably damaging 1.00
R1779:Olfr71 UTSW 4 43706041 missense probably damaging 1.00
R2871:Olfr71 UTSW 4 43706458 missense probably benign 0.30
R2871:Olfr71 UTSW 4 43706458 missense probably benign 0.30
R4723:Olfr71 UTSW 4 43705785 missense probably damaging 1.00
R4891:Olfr71 UTSW 4 43706194 missense probably damaging 0.99
R5049:Olfr71 UTSW 4 43706259 missense probably damaging 1.00
R5151:Olfr71 UTSW 4 43706518 missense probably damaging 0.99
R5491:Olfr71 UTSW 4 43705990 missense probably damaging 1.00
R5521:Olfr71 UTSW 4 43705788 missense possibly damaging 0.88
R6225:Olfr71 UTSW 4 43705698 missense probably damaging 1.00
R6518:Olfr71 UTSW 4 43706334 missense probably benign 0.05
R6885:Olfr71 UTSW 4 43705723 missense possibly damaging 0.93
X0017:Olfr71 UTSW 4 43705990 missense probably damaging 1.00
X0021:Olfr71 UTSW 4 43706326 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAGTGGTATTGGCATAGGCTGATCC -3'
(R):5'- TCTTCAAGTCAGTGGCAGAGACGG -3'

Sequencing Primer
(F):5'- CTGTAAAGACCTGGTCTGAGATCC -3'
(R):5'- AGACGGTCATCGCCATGAG -3'
Posted On2014-04-24