Incidental Mutation 'R4750:Or5bw2'
ID 357493
Institutional Source Beutler Lab
Gene Symbol Or5bw2
Ensembl Gene ENSMUSG00000056696
Gene Name olfactory receptor family 5 subfamily BW member 2
Synonyms GA_x6K02T2QGBW-3300391-3301317, MOR222-3, Olfr1350
MMRRC Submission 042031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4750 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 6572992-6573918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6573850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 287 (I287V)
Ref Sequence ENSEMBL: ENSMUSP00000151318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070985] [ENSMUST00000207221] [ENSMUST00000219278]
AlphaFold Q8VF34
Predicted Effect probably benign
Transcript: ENSMUST00000070985
AA Change: I287V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000069927
Gene: ENSMUSG00000056696
AA Change: I287V

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 1.6e-50 PFAM
Pfam:7tm_1 39 288 8.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207221
AA Change: I287V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000219278
AA Change: I287V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 97% (89/92)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,025,945 (GRCm39) L155Q probably damaging Het
Aadac T C 3: 59,943,238 (GRCm39) F48L probably benign Het
Aadat T A 8: 60,979,634 (GRCm39) N165K probably benign Het
Acan C A 7: 78,742,466 (GRCm39) D557E probably damaging Het
Adamts4 T A 1: 171,078,635 (GRCm39) V85D probably benign Het
Agt A G 8: 125,283,676 (GRCm39) V481A probably benign Het
Angpt1 T C 15: 42,539,797 (GRCm39) N21D probably benign Het
Ankrd52 A C 10: 128,213,958 (GRCm39) D38A probably damaging Het
Ap1g2 G T 14: 55,341,822 (GRCm39) Q247K probably damaging Het
Apaf1 T C 10: 90,896,050 (GRCm39) R341G probably damaging Het
Arf2 T C 11: 103,870,585 (GRCm39) probably null Het
Arhgef1 A G 7: 24,618,001 (GRCm39) probably benign Het
Bbln C T 2: 32,269,425 (GRCm39) probably null Het
Bbox1 T A 2: 110,095,866 (GRCm39) Y366F possibly damaging Het
Bmp3 A G 5: 99,020,417 (GRCm39) E280G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh12 T A 15: 21,583,894 (GRCm39) V578D possibly damaging Het
Cdk19 T C 10: 40,352,195 (GRCm39) S282P probably damaging Het
Cfap46 A G 7: 139,259,239 (GRCm39) probably null Het
Cfhr3 T A 1: 139,512,566 (GRCm39) noncoding transcript Het
Ctrc T A 4: 141,568,834 (GRCm39) Y123F probably benign Het
Dync2i2 T C 2: 29,923,932 (GRCm39) T198A probably benign Het
Enpp4 A G 17: 44,413,246 (GRCm39) M96T probably damaging Het
Exosc10 T A 4: 148,646,851 (GRCm39) S154T possibly damaging Het
Fbxo21 G A 5: 118,138,533 (GRCm39) R486H probably benign Het
Foxj3 C A 4: 119,473,787 (GRCm39) A204E probably damaging Het
Gas6 T G 8: 13,526,227 (GRCm39) D237A probably benign Het
Gimap8 A G 6: 48,627,361 (GRCm39) S112G probably benign Het
Gm4787 T C 12: 81,425,141 (GRCm39) N339S possibly damaging Het
Gm6185 T C 1: 161,009,933 (GRCm39) noncoding transcript Het
Gramd2b A G 18: 56,565,372 (GRCm39) E9G probably benign Het
Hmgxb3 A T 18: 61,300,568 (GRCm39) D169E probably benign Het
Isl2 T A 9: 55,451,596 (GRCm39) V162D probably benign Het
Kcns3 T A 12: 11,141,655 (GRCm39) D348V probably damaging Het
Kcp G A 6: 29,484,625 (GRCm39) P1318S probably benign Het
Kif12 T A 4: 63,086,020 (GRCm39) Q415L probably damaging Het
Lama3 T A 18: 12,637,416 (GRCm39) H45Q probably benign Het
Lonp2 A T 8: 87,358,130 (GRCm39) K117M probably benign Het
Loxl4 T A 19: 42,593,443 (GRCm39) N243Y probably damaging Het
Lrif1 C A 3: 106,642,880 (GRCm39) Q662K probably benign Het
Lrrc37a T A 11: 103,346,306 (GRCm39) I3187L probably benign Het
Lsg1 A G 16: 30,384,267 (GRCm39) I521T probably damaging Het
Mecom T G 3: 30,011,679 (GRCm39) K865Q probably damaging Het
Myh10 T C 11: 68,676,140 (GRCm39) I790T probably damaging Het
Nek7 C T 1: 138,426,411 (GRCm39) S234N probably damaging Het
Nepro T C 16: 44,550,545 (GRCm39) L179P probably damaging Het
Nexn A G 3: 151,943,359 (GRCm39) C649R probably damaging Het
Nsmf T C 2: 24,945,038 (GRCm39) S34P probably damaging Het
Or10x1 A G 1: 174,196,488 (GRCm39) I2V probably benign Het
Or13n4 A G 7: 106,423,514 (GRCm39) F73S probably damaging Het
Or13p5 T A 4: 118,591,930 (GRCm39) V68D possibly damaging Het
Or1n2 T A 2: 36,797,728 (GRCm39) S257T probably benign Het
Or1p1c T A 11: 74,160,246 (GRCm39) F10L probably benign Het
Or2w2 A G 13: 21,757,913 (GRCm39) S238P possibly damaging Het
Or52l1 A T 7: 104,830,133 (GRCm39) I144N probably damaging Het
Or5w16 C T 2: 87,576,852 (GRCm39) T104I probably benign Het
P2rx5 G T 11: 73,055,703 (GRCm39) K53N probably damaging Het
Pcdhb20 C A 18: 37,639,184 (GRCm39) A570E possibly damaging Het
Pip4k2c T C 10: 127,047,286 (GRCm39) H32R unknown Het
Pkhd1 T A 1: 20,594,336 (GRCm39) D1259V possibly damaging Het
Plekha7 A T 7: 115,736,546 (GRCm39) V889E probably damaging Het
Polr2b A C 5: 77,479,886 (GRCm39) E546D possibly damaging Het
Ppm1l A G 3: 69,456,661 (GRCm39) T193A probably damaging Het
Ppp1r37 G T 7: 19,265,445 (GRCm39) D710E probably benign Het
Prdm4 A G 10: 85,735,085 (GRCm39) F679L probably damaging Het
Prkcd A G 14: 30,332,258 (GRCm39) M1T probably null Het
Prss59 A G 6: 40,897,955 (GRCm39) W243R probably damaging Het
Rcor3 A G 1: 191,814,749 (GRCm39) Y77H unknown Het
Rdh5 T C 10: 128,754,235 (GRCm39) E66G possibly damaging Het
Slc12a5 A G 2: 164,824,851 (GRCm39) M396V probably benign Het
Slco5a1 T G 1: 12,949,504 (GRCm39) T629P probably damaging Het
Smarca5 A C 8: 81,460,336 (GRCm39) N133K probably benign Het
Spag5 T C 11: 78,210,878 (GRCm39) M927T probably benign Het
Spint4 A T 2: 164,542,066 (GRCm39) D39V probably damaging Het
Syt6 T A 3: 103,538,233 (GRCm39) *512R probably null Het
Tmem247 T C 17: 87,229,770 (GRCm39) C204R probably damaging Het
Tmem72 A G 6: 116,672,395 (GRCm39) Y149H probably damaging Het
Trpm6 T C 19: 18,853,428 (GRCm39) V1816A probably damaging Het
Usp35 A G 7: 96,959,546 (GRCm39) V1008A possibly damaging Het
Washc4 T C 10: 83,426,916 (GRCm39) S1075P probably damaging Het
Xylb G T 9: 119,188,379 (GRCm39) G62* probably null Het
Zfp142 T C 1: 74,611,617 (GRCm39) E623G probably damaging Het
Zfp239 A G 6: 117,848,700 (GRCm39) Y146C probably damaging Het
Other mutations in Or5bw2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Or5bw2 APN 7 6,573,667 (GRCm39) missense possibly damaging 0.88
IGL01387:Or5bw2 APN 7 6,573,854 (GRCm39) missense probably damaging 1.00
IGL01457:Or5bw2 APN 7 6,573,211 (GRCm39) missense probably benign 0.12
IGL01568:Or5bw2 APN 7 6,573,569 (GRCm39) missense possibly damaging 0.91
I2288:Or5bw2 UTSW 7 6,573,818 (GRCm39) missense probably damaging 1.00
I2289:Or5bw2 UTSW 7 6,573,818 (GRCm39) missense probably damaging 1.00
R0454:Or5bw2 UTSW 7 6,573,359 (GRCm39) missense probably damaging 1.00
R0558:Or5bw2 UTSW 7 6,573,652 (GRCm39) missense possibly damaging 0.77
R1103:Or5bw2 UTSW 7 6,573,111 (GRCm39) missense probably damaging 1.00
R1352:Or5bw2 UTSW 7 6,573,782 (GRCm39) missense probably benign 0.11
R1503:Or5bw2 UTSW 7 6,573,470 (GRCm39) missense probably damaging 1.00
R1630:Or5bw2 UTSW 7 6,573,673 (GRCm39) missense probably damaging 1.00
R1981:Or5bw2 UTSW 7 6,573,557 (GRCm39) missense probably benign 0.01
R2228:Or5bw2 UTSW 7 6,573,802 (GRCm39) missense probably benign
R2258:Or5bw2 UTSW 7 6,573,022 (GRCm39) missense probably damaging 0.98
R2259:Or5bw2 UTSW 7 6,573,022 (GRCm39) missense probably damaging 0.98
R2260:Or5bw2 UTSW 7 6,573,022 (GRCm39) missense probably damaging 0.98
R4075:Or5bw2 UTSW 7 6,573,142 (GRCm39) missense probably benign 0.00
R4917:Or5bw2 UTSW 7 6,573,643 (GRCm39) missense possibly damaging 0.88
R4918:Or5bw2 UTSW 7 6,573,643 (GRCm39) missense possibly damaging 0.88
R5571:Or5bw2 UTSW 7 6,573,824 (GRCm39) missense possibly damaging 0.95
R5915:Or5bw2 UTSW 7 6,573,172 (GRCm39) missense probably benign 0.31
R6969:Or5bw2 UTSW 7 6,573,320 (GRCm39) missense probably damaging 1.00
R7061:Or5bw2 UTSW 7 6,573,782 (GRCm39) missense probably damaging 1.00
R7286:Or5bw2 UTSW 7 6,573,715 (GRCm39) missense probably damaging 1.00
R7510:Or5bw2 UTSW 7 6,572,960 (GRCm39) start gained probably benign
R9475:Or5bw2 UTSW 7 6,573,818 (GRCm39) missense probably damaging 1.00
V1662:Or5bw2 UTSW 7 6,573,818 (GRCm39) missense probably damaging 1.00
Z1176:Or5bw2 UTSW 7 6,573,047 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACATCCGTTCTGCAGCTG -3'
(R):5'- TAAACAGTTTACCTTGGCCCC -3'

Sequencing Primer
(F):5'- GTTCTGCAGCTGGCCGC -3'
(R):5'- AGTGGCCAGTAACTATTCCAG -3'
Posted On 2015-11-11