Incidental Mutation 'R7823:Or8b57'
ID 602010
Institutional Source Beutler Lab
Gene Symbol Or8b57
Ensembl Gene ENSMUSG00000044205
Gene Name olfactory receptor family 8 subfamily B member 57
Synonyms MOR162-1, GA_x6K02T2PVTD-33790948-33790013, Olfr983
MMRRC Submission 045877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7823 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 40003313-40004854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40003644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 202 (V202E)
Ref Sequence ENSEMBL: ENSMUSP00000148541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050996] [ENSMUST00000213087] [ENSMUST00000213858] [ENSMUST00000214856] [ENSMUST00000217536]
AlphaFold Q8VG90
Predicted Effect probably damaging
Transcript: ENSMUST00000050996
AA Change: V206E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083206
Gene: ENSMUSG00000044205
AA Change: V206E

DomainStartEndE-ValueType
Pfam:7tm_4 35 311 2e-48 PFAM
Pfam:7TM_GPCR_Srsx 39 307 3.1e-5 PFAM
Pfam:7tm_1 45 293 1.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213087
AA Change: V202E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000213858
Predicted Effect probably benign
Transcript: ENSMUST00000214856
Predicted Effect probably benign
Transcript: ENSMUST00000217536
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (68/69)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,771,484 (GRCm39) V869A probably benign Het
Alox15 C A 11: 70,235,494 (GRCm39) V623L possibly damaging Het
Angpt4 T G 2: 151,753,286 (GRCm39) L12R unknown Het
Cdh24 C T 14: 54,874,875 (GRCm39) A42T probably damaging Het
Cep250 T A 2: 155,807,336 (GRCm39) S234T possibly damaging Het
Clnk T A 5: 38,907,694 (GRCm39) Y188F probably benign Het
Csmd2 A T 4: 128,103,698 (GRCm39) T306S Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Dgka T A 10: 128,572,135 (GRCm39) Y50F probably benign Het
Dgkh C T 14: 78,841,921 (GRCm39) V434I probably benign Het
Epb41 A G 4: 131,701,993 (GRCm39) probably null Het
Fam220a A G 5: 143,549,011 (GRCm39) D141G probably damaging Het
Fbxo11 A G 17: 88,300,610 (GRCm39) L807S probably damaging Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Ggt1 G A 10: 75,410,175 (GRCm39) V36M possibly damaging Het
Gjb2 T C 14: 57,337,963 (GRCm39) I82V probably benign Het
Gm7579 T A 7: 141,766,307 (GRCm39) C238S unknown Het
Hps1 G A 19: 42,744,146 (GRCm39) T681M possibly damaging Het
Iqck T C 7: 118,472,046 (GRCm39) Y64H probably damaging Het
Ldlr G A 9: 21,653,602 (GRCm39) probably null Het
Macc1 A C 12: 119,410,800 (GRCm39) K523Q probably damaging Het
Mon2 A T 10: 122,868,559 (GRCm39) I498N probably damaging Het
Mphosph9 T C 5: 124,442,319 (GRCm39) E373G probably damaging Het
Mthfr T C 4: 148,135,944 (GRCm39) I314T probably benign Het
Mtmr4 T G 11: 87,503,015 (GRCm39) I1023S probably damaging Het
Myo9a T A 9: 59,719,233 (GRCm39) F507I probably damaging Het
Nlrp10 T A 7: 108,523,468 (GRCm39) M671L probably benign Het
Nt5c1a T C 4: 123,102,365 (GRCm39) V97A probably damaging Het
Nxpe5 A G 5: 138,237,844 (GRCm39) R123G possibly damaging Het
Obscn T C 11: 58,998,766 (GRCm39) S1369G probably damaging Het
Oga A G 19: 45,765,354 (GRCm39) V151A possibly damaging Het
Or4a75 A G 2: 89,447,613 (GRCm39) *308Q probably null Het
Or52m2 A G 7: 102,264,164 (GRCm39) S11P probably benign Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Or6c33 T A 10: 129,854,136 (GRCm39) M302K probably benign Het
Or6k2 A G 1: 173,987,254 (GRCm39) K305R probably benign Het
Pak6 G A 2: 118,525,793 (GRCm39) A618T probably benign Het
Pax7 T A 4: 139,468,150 (GRCm39) E489V probably benign Het
Phactr4 G A 4: 132,088,930 (GRCm39) R651* probably null Het
Pik3c2b C T 1: 133,030,043 (GRCm39) R1435C probably damaging Het
Pla2g4c A T 7: 13,063,944 (GRCm39) I68F probably damaging Het
Plppr1 A G 4: 49,325,703 (GRCm39) M300V probably benign Het
Ptgfrn C T 3: 100,950,725 (GRCm39) V863I probably damaging Het
Rabep2 T C 7: 126,037,893 (GRCm39) S222P probably damaging Het
Ramacl A G 13: 67,055,351 (GRCm39) probably benign Het
Rbm20 A T 19: 53,831,785 (GRCm39) D673V probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Scn4a C A 11: 106,233,334 (GRCm39) A413S probably damaging Het
Scn9a A T 2: 66,314,135 (GRCm39) M1850K probably damaging Het
Sh3tc2 T A 18: 62,086,188 (GRCm39) M1K probably null Het
Slc22a28 G A 19: 8,041,890 (GRCm39) T439I probably benign Het
Slc25a36 A G 9: 96,966,444 (GRCm39) probably null Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Spata3 T C 1: 85,949,781 (GRCm39) probably benign Het
Srp68 C T 11: 116,156,265 (GRCm39) R159Q probably damaging Het
Ssbp2 C A 13: 91,790,448 (GRCm39) L104I possibly damaging Het
St8sia3 T A 18: 64,400,027 (GRCm39) F7L probably benign Het
Stard9 T C 2: 120,532,587 (GRCm39) V2948A probably damaging Het
Syne4 A G 7: 30,018,280 (GRCm39) T341A probably benign Het
Tcf7l2 T A 19: 55,731,521 (GRCm39) D91E possibly damaging Het
Tekt5 T A 16: 10,203,943 (GRCm39) I236F probably damaging Het
Tlk2 T C 11: 105,144,133 (GRCm39) Y316H probably damaging Het
Tmem184b C T 15: 79,249,491 (GRCm39) A326T probably benign Het
Tnks2 G A 19: 36,829,954 (GRCm39) probably null Het
Trpc4 C A 3: 54,209,640 (GRCm39) Y668* probably null Het
Ttc9c A T 19: 8,793,286 (GRCm39) F118Y probably benign Het
Ulk1 C T 5: 110,946,780 (GRCm39) C95Y probably damaging Het
Vars2 A C 17: 35,970,028 (GRCm39) L787R probably damaging Het
Vwa3a T C 7: 120,372,185 (GRCm39) S254P probably damaging Het
Wdr81 T C 11: 75,340,627 (GRCm39) Y1250C probably damaging Het
Xirp2 A T 2: 67,342,118 (GRCm39) D1453V probably damaging Het
Zbtb38 A T 9: 96,568,029 (GRCm39) C1018* probably null Het
Zfp622 C T 15: 25,984,709 (GRCm39) T25M probably damaging Het
Other mutations in Or8b57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Or8b57 APN 9 40,004,029 (GRCm39) missense probably damaging 1.00
IGL01329:Or8b57 APN 9 40,003,324 (GRCm39) missense possibly damaging 0.90
IGL01892:Or8b57 APN 9 40,004,114 (GRCm39) missense probably damaging 1.00
IGL02712:Or8b57 APN 9 40,004,082 (GRCm39) missense probably damaging 0.99
R0025:Or8b57 UTSW 9 40,003,549 (GRCm39) missense probably damaging 1.00
R0066:Or8b57 UTSW 9 40,003,983 (GRCm39) missense possibly damaging 0.74
R0136:Or8b57 UTSW 9 40,003,315 (GRCm39) makesense probably null
R0715:Or8b57 UTSW 9 40,003,807 (GRCm39) missense probably damaging 1.00
R2345:Or8b57 UTSW 9 40,003,849 (GRCm39) missense probably benign 0.09
R3432:Or8b57 UTSW 9 40,003,845 (GRCm39) missense probably damaging 1.00
R5027:Or8b57 UTSW 9 40,003,690 (GRCm39) missense probably damaging 1.00
R6874:Or8b57 UTSW 9 40,004,022 (GRCm39) missense probably benign 0.22
R7818:Or8b57 UTSW 9 40,004,008 (GRCm39) missense probably damaging 1.00
R8304:Or8b57 UTSW 9 40,003,650 (GRCm39) missense probably damaging 1.00
R8337:Or8b57 UTSW 9 40,003,695 (GRCm39) missense probably benign 0.00
R9276:Or8b57 UTSW 9 40,003,632 (GRCm39) missense possibly damaging 0.88
R9318:Or8b57 UTSW 9 40,004,112 (GRCm39) missense possibly damaging 0.81
R9631:Or8b57 UTSW 9 40,004,223 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATCTTTATCCACTGACCCAACAGG -3'
(R):5'- TCATCAGGTCTGCTTTGTGC -3'

Sequencing Primer
(F):5'- TTTATCCACTGACCCAACAGGAGAAG -3'
(R):5'- CTGATGGTGGGTGGGTACAC -3'
Posted On 2019-12-03