Incidental Mutation 'R8018:Or2b4'
ID 617236
Institutional Source Beutler Lab
Gene Symbol Or2b4
Ensembl Gene ENSMUSG00000044985
Gene Name olfactory receptor family 2 subfamily B member 4
Synonyms MOR256-3, A3, Olfr124, SR1, GA_x6K02T2PSCP-2264806-2265753
MMRRC Submission 067458-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8018 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 38115960-38117081 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 38116038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000148904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053599] [ENSMUST00000215168] [ENSMUST00000216478] [ENSMUST00000217365]
AlphaFold Q8VGW6
Predicted Effect probably null
Transcript: ENSMUST00000053599
AA Change: M1V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: M1V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 305 9e-6 PFAM
Pfam:7tm_1 41 290 7.3e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000215168
AA Change: M1V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably null
Transcript: ENSMUST00000216478
AA Change: M1V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably null
Transcript: ENSMUST00000217365
AA Change: M1V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (45/46)
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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a significantly reduced density of olfactory sensory neurons in the septal organ, and show altered patterns of odorant responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,880,991 (GRCm39) T146I unknown Het
Abca16 A G 7: 120,132,866 (GRCm39) E1265G probably benign Het
Adar T C 3: 89,654,882 (GRCm39) S924P probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
AI429214 A T 8: 37,460,820 (GRCm39) probably benign Het
Ankmy1 A T 1: 92,814,003 (GRCm39) L392Q probably benign Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Ccdc158 T C 5: 92,771,260 (GRCm39) D985G possibly damaging Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Ctbp2 T C 7: 132,616,095 (GRCm39) K280R probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dnaaf4 T A 9: 72,879,598 (GRCm39) probably benign Het
Dynap T C 18: 70,375,093 (GRCm39) T41A possibly damaging Het
Elfn2 A G 15: 78,557,968 (GRCm39) L193P probably damaging Het
Fcrl2 A T 3: 87,166,933 (GRCm39) L20* probably null Het
Flcn T C 11: 59,684,948 (GRCm39) D501G probably damaging Het
Gmip A G 8: 70,268,143 (GRCm39) E399G probably benign Het
Grm7 A G 6: 111,184,737 (GRCm39) E356G probably benign Het
Hs3st2 A G 7: 121,099,639 (GRCm39) probably null Het
Kcnh2 G A 5: 24,525,014 (GRCm39) S1158L probably damaging Het
Lancl2 A G 6: 57,690,078 (GRCm39) T104A probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Mthfd2l T A 5: 91,107,672 (GRCm39) I178N probably damaging Het
Nbeal2 G T 9: 110,458,225 (GRCm39) probably benign Het
Niban1 A T 1: 151,593,006 (GRCm39) K564* probably null Het
Nipal3 C T 4: 135,174,659 (GRCm39) R364H possibly damaging Het
Oxa1l A G 14: 54,600,757 (GRCm39) I77V not run Het
Phf10 T A 17: 15,174,378 (GRCm39) Q233H possibly damaging Het
Pias2 T A 18: 77,216,654 (GRCm39) N288K probably benign Het
Pramel43 T C 5: 94,761,839 (GRCm39) N244S probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Ptprd T C 4: 76,003,757 (GRCm39) T1010A probably damaging Het
Ralgapa2 T C 2: 146,182,311 (GRCm39) D1676G probably damaging Het
Rapgefl1 T G 11: 98,731,166 (GRCm39) probably null Het
Rrp7a C T 15: 83,001,125 (GRCm39) E269K possibly damaging Het
Ryr3 A C 2: 112,508,777 (GRCm39) M3399R probably damaging Het
Secisbp2l C A 2: 125,587,829 (GRCm39) R762L probably damaging Het
Smad7 T G 18: 75,502,355 (GRCm39) L110R possibly damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tcea3 T G 4: 135,985,229 (GRCm39) probably benign Het
Tdrd9 T C 12: 111,999,180 (GRCm39) V765A probably benign Het
Tdrd9 C T 12: 112,010,822 (GRCm39) R1130W probably damaging Het
Tia1 C T 6: 86,402,034 (GRCm39) P189S probably benign Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Ubxn8 A G 8: 34,113,243 (GRCm39) C204R probably damaging Het
Vmn1r76 A G 7: 11,664,810 (GRCm39) S135P probably damaging Het
Vps18 T A 2: 119,124,492 (GRCm39) L473H probably damaging Het
Zfp444 A G 7: 6,191,142 (GRCm39) T108A probably benign Het
Other mutations in Or2b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Or2b4 APN 17 38,116,941 (GRCm39) missense probably benign 0.00
IGL01512:Or2b4 APN 17 38,116,503 (GRCm39) missense probably damaging 0.99
IGL01986:Or2b4 APN 17 38,116,957 (GRCm39) missense probably damaging 1.00
IGL03151:Or2b4 APN 17 38,116,159 (GRCm39) missense probably damaging 1.00
R0060:Or2b4 UTSW 17 38,116,891 (GRCm39) missense probably damaging 0.99
R0060:Or2b4 UTSW 17 38,116,891 (GRCm39) missense probably damaging 0.99
R1075:Or2b4 UTSW 17 38,116,660 (GRCm39) nonsense probably null
R1177:Or2b4 UTSW 17 38,116,843 (GRCm39) missense probably benign 0.36
R1422:Or2b4 UTSW 17 38,116,254 (GRCm39) missense probably damaging 0.98
R1875:Or2b4 UTSW 17 38,115,996 (GRCm39) start gained probably benign
R2088:Or2b4 UTSW 17 38,116,686 (GRCm39) missense probably benign 0.22
R4712:Or2b4 UTSW 17 38,116,591 (GRCm39) nonsense probably null
R6025:Or2b4 UTSW 17 38,116,312 (GRCm39) missense probably damaging 1.00
R6241:Or2b4 UTSW 17 38,116,432 (GRCm39) missense probably damaging 1.00
R6992:Or2b4 UTSW 17 38,116,754 (GRCm39) missense probably damaging 1.00
R7221:Or2b4 UTSW 17 38,116,452 (GRCm39) missense probably benign 0.04
R7383:Or2b4 UTSW 17 38,116,972 (GRCm39) missense probably benign 0.00
R7659:Or2b4 UTSW 17 38,116,054 (GRCm39) missense probably benign 0.43
R7881:Or2b4 UTSW 17 38,116,320 (GRCm39) missense probably damaging 1.00
R8341:Or2b4 UTSW 17 38,116,543 (GRCm39) missense probably damaging 1.00
R9638:Or2b4 UTSW 17 38,116,509 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACATTCCCTAGGTACACTGC -3'
(R):5'- TGCTCGTAGTATAGCAGAGGTC -3'

Sequencing Primer
(F):5'- ACATTCCCTAGGTACACTGCTAATC -3'
(R):5'- CTCGTAGTATAGCAGAGGTCCAGAAG -3'
Posted On 2020-01-23