Incidental Mutation 'R9102:Or8b4'
ID 691763
Institutional Source Beutler Lab
Gene Symbol Or8b4
Ensembl Gene ENSMUSG00000066747
Gene Name olfactory receptor family 8 subfamily B member 4
Synonyms MOR163-1, GA_x6K02T2PVTD-31600511-31601440, Olfr878
MMRRC Submission 068916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R9102 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 37829844-37830908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37829992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 13 (I13N)
Ref Sequence ENSEMBL: ENSMUSP00000149530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086061] [ENSMUST00000212878] [ENSMUST00000214263] [ENSMUST00000216723]
AlphaFold Q9EQA9
Predicted Effect probably damaging
Transcript: ENSMUST00000086061
AA Change: I18N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083228
Gene: ENSMUSG00000066747
AA Change: I18N

DomainStartEndE-ValueType
Pfam:7tm_4 36 312 1.4e-46 PFAM
Pfam:7tm_1 46 294 5.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212878
AA Change: I13N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214263
AA Change: I13N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216723
AA Change: I13N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (62/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam33 T C 2: 130,897,737 (GRCm39) Q227R probably benign Het
Adgrb2 G A 4: 129,912,802 (GRCm39) G1276D probably benign Het
Adra1b A G 11: 43,667,056 (GRCm39) S394P possibly damaging Het
Arap2 T A 5: 62,906,341 (GRCm39) H226L probably benign Het
Bckdk A G 7: 127,506,658 (GRCm39) D297G probably null Het
Brwd1 T C 16: 95,869,725 (GRCm39) T101A probably benign Het
Ciita A G 16: 10,324,565 (GRCm39) R166G probably benign Het
Cnksr1 A G 4: 133,956,323 (GRCm39) F587S probably damaging Het
Col4a1 A T 8: 11,253,007 (GRCm39) C1548S possibly damaging Het
Cxcl15 G T 5: 90,949,154 (GRCm39) M106I Het
Dennd6a T C 14: 26,350,689 (GRCm39) I598T probably damaging Het
Dlg5 G A 14: 24,199,567 (GRCm39) P1446S probably damaging Het
Dnah6 A T 6: 73,044,469 (GRCm39) I3214N probably benign Het
Dnmt3b T C 2: 153,518,703 (GRCm39) V622A probably damaging Het
Fam170b T A 14: 32,557,404 (GRCm39) S80T probably damaging Het
Fbxl13 G T 5: 21,837,801 (GRCm39) H45Q probably benign Het
Fbxo39 T C 11: 72,208,316 (GRCm39) F223L possibly damaging Het
Fndc3b C A 3: 27,523,014 (GRCm39) probably null Het
Gbp3 G C 3: 142,273,586 (GRCm39) V378L probably benign Het
Gc C T 5: 89,591,444 (GRCm39) S98N probably benign Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gpr158 A T 2: 21,830,078 (GRCm39) S708C probably damaging Het
Hmcn1 A T 1: 150,573,331 (GRCm39) M2106K probably benign Het
Hoxd11 T A 2: 74,513,274 (GRCm39) Y180N possibly damaging Het
Hydin A G 8: 111,235,546 (GRCm39) I1844V probably benign Het
Knl1 T C 2: 118,917,973 (GRCm39) I1777T probably benign Het
Krt33b A C 11: 99,915,846 (GRCm39) L300R probably damaging Het
Madd C T 2: 90,988,404 (GRCm39) A1208T probably benign Het
Meis2 T A 2: 115,694,760 (GRCm39) N461I probably benign Het
Mgat1 T A 11: 49,152,165 (GRCm39) V216E probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Npc1l1 C T 11: 6,164,684 (GRCm39) V1122M possibly damaging Het
Nrsn1 A G 13: 25,437,517 (GRCm39) M137T probably benign Het
Nrxn3 T C 12: 90,298,924 (GRCm39) S1015P probably benign Het
Nudt22 T A 19: 6,972,119 (GRCm39) I166F probably benign Het
Or10d1b A C 9: 39,613,984 (GRCm39) V27G probably benign Het
Or5j1 C T 2: 86,879,171 (GRCm39) M136I possibly damaging Het
Or6k4 A T 1: 173,964,322 (GRCm39) N4I Het
Or6n2 T A 1: 173,897,176 (GRCm39) F104Y probably damaging Het
Or8g31-ps1 C T 9: 39,276,388 (GRCm39) P178S unknown Het
Pcdha4 T A 18: 37,087,630 (GRCm39) N604K probably damaging Het
Plxnc1 C T 10: 94,663,107 (GRCm39) V1181M probably damaging Het
Pms1 G C 1: 53,307,021 (GRCm39) H128Q probably benign Het
Prkar2b G A 12: 32,013,025 (GRCm39) H364Y probably benign Het
Pus7 A T 5: 23,957,380 (GRCm39) I357K possibly damaging Het
Rsf1 GCGGC GCGGCGGCGCCGGC 7: 97,229,138 (GRCm39) probably benign Het
Ryr3 T C 2: 112,508,906 (GRCm39) probably benign Het
Siglec1 T C 2: 130,915,389 (GRCm39) I1401V probably benign Het
Slc6a6 G T 6: 91,731,940 (GRCm39) V590L probably benign Het
Slc9b1 C T 3: 135,100,725 (GRCm39) P490L probably damaging Het
Sprn T C 7: 139,733,278 (GRCm39) D98G possibly damaging Het
Srrm4 T C 5: 116,620,563 (GRCm39) D55G unknown Het
Sugct A G 13: 17,497,833 (GRCm39) V280A probably benign Het
Tbx6 A G 7: 126,381,014 (GRCm39) E83G possibly damaging Het
Tmem120a T C 5: 135,765,455 (GRCm39) T209A probably benign Het
Top3a T C 11: 60,647,155 (GRCm39) R255G probably damaging Het
Trav6-1 T A 14: 52,876,008 (GRCm39) F13I probably benign Het
Tsnaxip1 A G 8: 106,568,622 (GRCm39) E410G probably benign Het
Ubr5 A G 15: 38,018,596 (GRCm39) V842A Het
Ubtf A G 11: 102,201,015 (GRCm39) probably null Het
Vwa3b G A 1: 37,174,593 (GRCm39) M1I probably null Het
Zfp518b T C 5: 38,831,181 (GRCm39) T275A probably benign Het
Other mutations in Or8b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Or8b4 APN 9 37,830,346 (GRCm39) missense probably damaging 1.00
IGL01354:Or8b4 APN 9 37,830,840 (GRCm39) missense possibly damaging 0.74
R0399:Or8b4 UTSW 9 37,830,849 (GRCm39) missense possibly damaging 0.85
R1537:Or8b4 UTSW 9 37,830,570 (GRCm39) missense probably benign 0.24
R3737:Or8b4 UTSW 9 37,829,937 (GRCm39) splice site probably benign
R4035:Or8b4 UTSW 9 37,829,937 (GRCm39) splice site probably benign
R4675:Or8b4 UTSW 9 37,830,882 (GRCm39) makesense probably null
R4700:Or8b4 UTSW 9 37,830,217 (GRCm39) missense possibly damaging 0.77
R5719:Or8b4 UTSW 9 37,830,647 (GRCm39) missense probably damaging 1.00
R5824:Or8b4 UTSW 9 37,830,861 (GRCm39) missense probably benign 0.00
R5940:Or8b4 UTSW 9 37,830,733 (GRCm39) missense probably damaging 1.00
R6116:Or8b4 UTSW 9 37,829,955 (GRCm39) start codon destroyed probably null 0.94
R6705:Or8b4 UTSW 9 37,830,080 (GRCm39) missense probably damaging 1.00
R7075:Or8b4 UTSW 9 37,830,370 (GRCm39) missense probably benign 0.09
R7470:Or8b4 UTSW 9 37,830,592 (GRCm39) missense probably damaging 1.00
R8057:Or8b4 UTSW 9 37,830,460 (GRCm39) missense probably benign 0.00
R9204:Or8b4 UTSW 9 37,830,670 (GRCm39) missense probably damaging 1.00
R9254:Or8b4 UTSW 9 37,830,447 (GRCm39) missense probably damaging 1.00
R9379:Or8b4 UTSW 9 37,830,447 (GRCm39) missense probably damaging 1.00
R9504:Or8b4 UTSW 9 37,830,163 (GRCm39) missense probably damaging 1.00
R9711:Or8b4 UTSW 9 37,830,066 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCATGGGAAATGAGCTATGCTC -3'
(R):5'- TTTTGGCGTGAACACACAGG -3'

Sequencing Primer
(F):5'- AGCTATGCTCAGTCACACTATTAGTG -3'
(R):5'- TTTTGGCGTGAACACACAGGAATAAC -3'
Posted On 2021-12-30