Incidental Mutation 'R2258:Or2d3b'
ID 243542
Institutional Source Beutler Lab
Gene Symbol Or2d3b
Ensembl Gene ENSMUSG00000073899
Gene Name olfactory receptor family 2 subfamily D member 3B
Synonyms GA_x6K02T2PBJ9-9297671-9298594, Olfr708, MOR260-9P, MOR260-6P, MOR260-9P, Olfr1532, Olfr1532-ps1
MMRRC Submission 040258-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2258 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 106507332-106514330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106514113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 236 (K236R)
Ref Sequence ENSEMBL: ENSMUSP00000149624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098140] [ENSMUST00000207492] [ENSMUST00000215949]
AlphaFold A0A0R4J8U2
Predicted Effect probably damaging
Transcript: ENSMUST00000098140
AA Change: K236R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095744
Gene: ENSMUSG00000073899
AA Change: K236R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.2e-58 PFAM
Pfam:7TM_GPCR_Srsx 35 285 5.6e-9 PFAM
Pfam:7tm_1 41 290 2.8e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207492
AA Change: K236R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215949
AA Change: K236R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,207,267 (GRCm39) N308S possibly damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Ang4 A G 14: 52,001,955 (GRCm39) probably benign Het
Ap3d1 A G 10: 80,556,966 (GRCm39) S315P probably benign Het
Arhgap15 G A 2: 44,276,359 (GRCm39) G437R probably damaging Het
Cacna2d1 T C 5: 16,562,287 (GRCm39) C810R probably damaging Het
Capn5 A G 7: 97,785,082 (GRCm39) W131R probably damaging Het
Ccnj A G 19: 40,834,277 (GRCm39) Q292R probably benign Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdk5r2 T C 1: 74,895,059 (GRCm39) L268P probably damaging Het
Cfap251 C G 5: 123,421,411 (GRCm39) probably null Het
Clrn2 A G 5: 45,611,304 (GRCm39) D51G probably benign Het
Cntd1 T C 11: 101,175,682 (GRCm39) S174P probably damaging Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Col17a1 C T 19: 47,669,816 (GRCm39) probably null Het
Cyp2a5 A G 7: 26,536,528 (GRCm39) D169G possibly damaging Het
Cyp2c37 A G 19: 39,984,303 (GRCm39) I264V possibly damaging Het
Cyp2j12 A G 4: 96,021,315 (GRCm39) I97T probably damaging Het
Dipk1b T C 2: 26,525,162 (GRCm39) L157P probably damaging Het
Eif3b T C 5: 140,413,258 (GRCm39) F354L possibly damaging Het
Eif4a3l1 A T 6: 136,305,559 (GRCm39) M7L probably benign Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
F5 T A 1: 164,019,750 (GRCm39) S742T probably damaging Het
Fam187a A G 11: 102,776,124 (GRCm39) probably benign Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fndc3b G T 3: 27,494,309 (GRCm39) Q939K possibly damaging Het
Gja4 C A 4: 127,206,623 (GRCm39) D47Y probably damaging Het
Gm11565 T G 11: 99,805,844 (GRCm39) C79G possibly damaging Het
Gpbar1 T C 1: 74,318,164 (GRCm39) F136L probably benign Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Hecw1 A T 13: 14,490,723 (GRCm39) D756E probably benign Het
Hrc C A 7: 44,986,105 (GRCm39) R419S possibly damaging Het
Inpp4a T A 1: 37,416,777 (GRCm39) S433T probably damaging Het
Ism2 C A 12: 87,326,848 (GRCm39) V320L possibly damaging Het
Krt8 G T 15: 101,907,257 (GRCm39) D275E probably benign Het
Lgalsl2 A G 7: 5,362,401 (GRCm39) M11V probably benign Het
Lyg2 A C 1: 37,948,077 (GRCm39) N132K probably benign Het
Lyst G A 13: 13,812,243 (GRCm39) R885Q probably benign Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mcc C A 18: 44,608,203 (GRCm39) G355W probably damaging Het
Mllt6 T C 11: 97,555,802 (GRCm39) V44A probably damaging Het
Mrgpra3 A T 7: 47,239,842 (GRCm39) M28K probably benign Het
Ms4a15 A G 19: 10,962,159 (GRCm39) C47R probably benign Het
Muc5ac A G 7: 141,344,745 (GRCm39) N72S probably benign Het
Myo18b C T 5: 113,022,529 (GRCm39) probably benign Het
Nat8f4 A T 6: 85,878,207 (GRCm39) H105Q possibly damaging Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nptx1 T G 11: 119,434,142 (GRCm39) I315L probably benign Het
Nrap T C 19: 56,310,394 (GRCm39) R1534G possibly damaging Het
Nwd2 C A 5: 63,962,499 (GRCm39) N694K probably benign Het
Oas1c G A 5: 120,941,082 (GRCm39) A35V probably null Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or5p58 C T 7: 107,694,402 (GRCm39) R125H possibly damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pate8 C A 9: 36,493,161 (GRCm39) V54L probably benign Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Polr1f A G 12: 33,483,587 (GRCm39) H113R probably damaging Het
Prex1 C T 2: 166,429,077 (GRCm39) V839I probably benign Het
Psmd3 T A 11: 98,581,790 (GRCm39) M305K probably benign Het
Rbm20 T C 19: 53,840,172 (GRCm39) S1054P probably benign Het
Rhox13 G C X: 37,210,221 (GRCm39) E19Q unknown Het
Ryr2 A G 13: 11,753,102 (GRCm39) F1740L possibly damaging Het
Sox1 C A 8: 12,446,927 (GRCm39) N189K possibly damaging Het
Spta1 C A 1: 174,001,907 (GRCm39) S12R possibly damaging Het
Stard13 A G 5: 150,963,196 (GRCm39) L971P probably damaging Het
Tigd4 T A 3: 84,501,600 (GRCm39) N172K probably benign Het
Tmt1a A T 15: 100,211,049 (GRCm39) I174F probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Unc45b T A 11: 82,808,625 (GRCm39) M237K probably benign Het
Vldlr A G 19: 27,215,786 (GRCm39) D220G probably damaging Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Wdr25 T A 12: 108,864,100 (GRCm39) S82T possibly damaging Het
Wnk4 C A 11: 101,165,861 (GRCm39) P796Q probably damaging Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Zc3h15 G A 2: 83,487,360 (GRCm39) V60I probably benign Het
Zfp629 G A 7: 127,210,963 (GRCm39) T282M probably damaging Het
Zscan22 T G 7: 12,637,887 (GRCm39) V93G probably damaging Het
Other mutations in Or2d3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Or2d3b APN 7 106,514,235 (GRCm39) missense probably damaging 1.00
PIT4402001:Or2d3b UTSW 7 106,514,294 (GRCm39) missense possibly damaging 0.49
PIT4453001:Or2d3b UTSW 7 106,514,136 (GRCm39) missense probably damaging 1.00
R0008:Or2d3b UTSW 7 106,514,226 (GRCm39) missense probably benign 0.02
R0848:Or2d3b UTSW 7 106,514,200 (GRCm39) missense probably benign 0.01
R0894:Or2d3b UTSW 7 106,514,317 (GRCm39) missense probably benign 0.20
R1866:Or2d3b UTSW 7 106,514,273 (GRCm39) missense probably damaging 0.98
R1970:Or2d3b UTSW 7 106,513,453 (GRCm39) missense probably damaging 1.00
R7003:Or2d3b UTSW 7 106,514,319 (GRCm39) missense probably benign
R8257:Or2d3b UTSW 7 106,513,926 (GRCm39) missense probably benign 0.01
R8981:Or2d3b UTSW 7 106,513,590 (GRCm39) missense probably benign 0.24
R9223:Or2d3b UTSW 7 106,513,980 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- GGATACCACATTCACATTACGTCTTC -3'
(R):5'- TGAGAGCCCCTTTCACATCC -3'

Sequencing Primer
(F):5'- TCGAGGAAACAATGTCATTAACC -3'
(R):5'- ATCCTTGTTTCTCAGGCTGTATATG -3'
Posted On 2014-10-16