Incidental Mutation 'IGL01160:Or2b4'
ID 54035
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01160
Quality Score
Status
Chromosome 17
Chromosomal Location 38115960-38117081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38116941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 302 (R302G)
Ref Sequence ENSEMBL: ENSMUSP00000149754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053599] [ENSMUST00000215168] [ENSMUST00000216478] [ENSMUST00000217365]
AlphaFold Q8VGW6
Predicted Effect probably benign
Transcript: ENSMUST00000053599
AA Change: R302G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: R302G

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 benign
Transcript: ENSMUST00000215168
AA Change: R302G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216478
AA Change: R302G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000217365
AA Change: R302G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
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]
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a A G 8: 12,894,609 (GRCm39) T188A probably damaging Het
Bfsp2 A G 9: 103,357,367 (GRCm39) V20A probably benign Het
Btn1a1 G A 13: 23,645,907 (GRCm39) T154M possibly damaging Het
Ccdc117 T C 11: 5,481,532 (GRCm39) S200G probably benign Het
Col24a1 G A 3: 145,213,468 (GRCm39) G1358S probably damaging Het
Crlf2 T C 5: 109,705,436 (GRCm39) T40A possibly damaging Het
Cstf2 T A X: 132,961,478 (GRCm39) probably benign Het
Dcdc2a A G 13: 25,303,312 (GRCm39) D281G probably benign Het
Dmd T C X: 82,968,567 (GRCm39) L1855P probably damaging Het
Dnajc5g T C 5: 31,267,529 (GRCm39) V112A probably benign Het
Dnmt1 G A 9: 20,828,615 (GRCm39) P828S possibly damaging Het
Dock3 A T 9: 106,783,887 (GRCm39) S268R probably damaging Het
Dpep2 C T 8: 106,713,076 (GRCm39) V440M possibly damaging Het
F8 A T X: 74,331,667 (GRCm39) M741K probably damaging Het
Fermt3 C T 19: 6,980,626 (GRCm39) probably null Het
Fosb A G 7: 19,041,039 (GRCm39) probably null Het
Gm3238 C A 10: 77,606,717 (GRCm39) probably benign Het
Hyal5 T A 6: 24,876,480 (GRCm39) S118T possibly damaging Het
Igf2r T C 17: 12,923,662 (GRCm39) D1140G possibly damaging Het
Ighmbp2 G T 19: 3,326,750 (GRCm39) probably benign Het
Irf3 C A 7: 44,648,220 (GRCm39) D28E possibly damaging Het
Ly6i A T 15: 74,851,881 (GRCm39) I96N possibly damaging Het
Macrod2 T C 2: 140,666,962 (GRCm39) probably benign Het
Or4c117 A T 2: 88,956,072 (GRCm39) M1K probably null Het
Or4f15 A G 2: 111,814,278 (GRCm39) L47P probably damaging Het
Or52z1 C T 7: 103,436,843 (GRCm39) G214R probably damaging Het
Otof A T 5: 30,538,879 (GRCm39) M1128K probably benign Het
Parp9 A T 16: 35,768,368 (GRCm39) I183F probably damaging Het
Pbsn T C X: 76,886,177 (GRCm39) N147S probably benign Het
Pcf11 A G 7: 92,310,894 (GRCm39) S365P possibly damaging Het
Pcnx4 T G 12: 72,626,151 (GRCm39) V1119G probably damaging Het
Qng1 A G 13: 58,529,790 (GRCm39) V274A probably damaging Het
Rsf1 C T 7: 97,334,791 (GRCm39) T1308M probably damaging Het
Sidt2 A G 9: 45,854,024 (GRCm39) L647P probably damaging Het
Slc28a2b A C 2: 122,355,277 (GRCm39) probably null Het
Slc7a8 A G 14: 54,972,581 (GRCm39) V280A probably benign Het
Spart T A 3: 55,029,177 (GRCm39) F323I probably damaging Het
Supt16 A T 14: 52,420,589 (GRCm39) D70E probably benign Het
Tmc4 T C 7: 3,678,517 (GRCm39) Y38C possibly damaging Het
Tmco5b G T 2: 113,118,143 (GRCm39) probably benign Het
Trav10 G A 14: 53,743,239 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,489,477 (GRCm39) M454K probably damaging Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Yipf7 T C 5: 69,676,660 (GRCm39) I160V probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp429 G A 13: 67,539,132 (GRCm39) S91L probably damaging Het
Other mutations in Or2b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-28