Incidental Mutation 'R0060:Or2b4'
ID 18098
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 038353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0060 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 38115960-38117081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38116891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 285 (L285P)
Ref Sequence ENSEMBL: ENSMUSP00000149754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053599] [ENSMUST00000215168] [ENSMUST00000216478] [ENSMUST00000217365]
AlphaFold Q8VGW6
Predicted Effect probably damaging
Transcript: ENSMUST00000053599
AA Change: L285P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: L285P

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 noncoding transcript
Transcript: ENSMUST00000174446
Predicted Effect probably damaging
Transcript: ENSMUST00000215168
AA Change: L285P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216478
AA Change: L285P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217365
AA Change: L285P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 88.3%
  • 10x: 83.8%
  • 20x: 78.1%
Validation Efficiency 94% (74/79)
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]
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A C 11: 58,313,008 (GRCm39) probably benign Het
4930432E11Rik A G 7: 29,273,595 (GRCm39) noncoding transcript Het
A630091E08Rik A G 7: 98,192,875 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,961,306 (GRCm39) T539A probably damaging Het
Adam34 A T 8: 44,128,920 (GRCm39) probably benign Het
Ankrd60 A T 2: 173,414,406 (GRCm39) M1K probably null Het
Cald1 T C 6: 34,692,394 (GRCm39) probably benign Het
Capn7 T C 14: 31,087,561 (GRCm39) probably benign Het
Cd109 G A 9: 78,610,389 (GRCm39) E1145K probably damaging Het
Celsr1 A T 15: 85,806,399 (GRCm39) V2353D probably damaging Het
Cep135 A T 5: 76,769,197 (GRCm39) I616F probably benign Het
Cep162 T A 9: 87,119,878 (GRCm39) probably benign Het
Cep350 C T 1: 155,804,372 (GRCm39) D904N probably damaging Het
Cep85 T C 4: 133,894,611 (GRCm39) D65G probably damaging Het
Cfdp1 T C 8: 112,566,986 (GRCm39) probably benign Het
Chl1 T A 6: 103,688,019 (GRCm39) probably benign Het
Colec10 G A 15: 54,302,542 (GRCm39) probably benign Het
Crxos A G 7: 15,632,448 (GRCm39) T40A possibly damaging Het
Dnhd1 A G 7: 105,317,721 (GRCm39) D472G probably damaging Het
Dpp6 C A 5: 27,803,817 (GRCm39) N254K probably damaging Het
Eps8l3 T C 3: 107,786,857 (GRCm39) L11S probably damaging Het
Flad1 G A 3: 89,309,552 (GRCm39) R515* probably null Het
Fzd5 T C 1: 64,774,835 (GRCm39) T309A probably benign Het
Gm19685 T C 17: 61,075,418 (GRCm39) Het
Gsdme A G 6: 50,198,009 (GRCm39) I317T possibly damaging Het
H2bc1 A T 13: 24,117,928 (GRCm39) I71N possibly damaging Het
Incenp A G 19: 9,862,823 (GRCm39) probably benign Het
Itgad T C 7: 127,802,158 (GRCm39) S979P probably damaging Het
Kat2b T C 17: 53,961,571 (GRCm39) V557A probably damaging Het
Lamc1 A T 1: 153,117,614 (GRCm39) probably benign Het
Lgi4 G A 7: 30,762,996 (GRCm39) G157D probably damaging Het
Mga T C 2: 119,791,442 (GRCm39) probably null Het
Nubpl T C 12: 52,357,470 (GRCm39) probably benign Het
Or5be3 T C 2: 86,864,118 (GRCm39) Y149C probably damaging Het
Or8c20 C T 9: 38,260,808 (GRCm39) S143F probably benign Het
Peak1 A T 9: 56,135,107 (GRCm39) I78K probably damaging Het
Prune2 T A 19: 16,981,097 (GRCm39) F85I probably damaging Het
Rbm11 G T 16: 75,395,667 (GRCm39) D113Y probably damaging Het
Rif1 C T 2: 52,001,129 (GRCm39) R1528C probably damaging Het
Sema4d A G 13: 51,859,293 (GRCm39) probably benign Het
Slc30a4 T A 2: 122,527,104 (GRCm39) T381S probably benign Het
Slf2 G T 19: 44,936,443 (GRCm39) G696V probably damaging Het
Suv39h2 T C 2: 3,465,953 (GRCm39) Y134C probably damaging Het
Tmem273 C A 14: 32,528,726 (GRCm39) probably benign Het
Tmem89 T A 9: 108,744,485 (GRCm39) V126D probably damaging Het
Trf T C 9: 103,098,121 (GRCm39) T46A probably benign Het
Trmt6 C T 2: 132,648,689 (GRCm39) R415Q possibly damaging Het
Trp53bp1 T C 2: 121,035,006 (GRCm39) K1625E probably damaging Het
Usp6nl T A 2: 6,445,701 (GRCm39) D559E probably benign Het
Wdr75 A G 1: 45,855,777 (GRCm39) D476G probably benign Het
Wrap53 A C 11: 69,454,256 (GRCm39) L261V possibly damaging Het
Zcchc4 T A 5: 52,964,420 (GRCm39) I292N possibly damaging 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
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
R8018:Or2b4 UTSW 17 38,116,038 (GRCm39) start codon destroyed probably null 0.00
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
Posted On 2013-03-25