Incidental Mutation 'PIT4402001:Or2d3b'
ID 555522
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # PIT4402001 (G1)
Quality Score 208.009
Status Not validated
Chromosome 7
Chromosomal Location 106507332-106514330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106514294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 296 (D296E)
Ref Sequence ENSEMBL: ENSMUSP00000146909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098140] [ENSMUST00000207492] [ENSMUST00000215949]
AlphaFold A0A0R4J8U2
Predicted Effect possibly damaging
Transcript: ENSMUST00000098140
AA Change: D296E

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095744
Gene: ENSMUSG00000073899
AA Change: D296E

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 possibly damaging
Transcript: ENSMUST00000207492
AA Change: D296E

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215949
AA Change: D296E

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.3%
  • 10x: 83.2%
  • 20x: 68.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T G 14: 59,380,084 (GRCm39) L71F probably damaging Het
Adamts9 C T 6: 92,849,328 (GRCm39) V1044I probably benign Het
Alcam T C 16: 52,115,497 (GRCm39) Y207C probably damaging Het
Aldh4a1 C A 4: 139,369,502 (GRCm39) S351* probably null Het
Aoah C A 13: 20,978,680 (GRCm39) S39R probably benign Het
Arcn1 A T 9: 44,656,899 (GRCm39) V421E possibly damaging Het
Ccdc18 A G 5: 108,306,485 (GRCm39) E300G possibly damaging Het
Cdk2ap2 C A 19: 4,148,557 (GRCm39) R126S probably damaging Het
Dcun1d4 A G 5: 73,668,276 (GRCm39) I39V probably benign Het
Fam53b A T 7: 132,361,746 (GRCm39) I94N probably damaging Het
Fam83g A G 11: 61,594,422 (GRCm39) H652R probably damaging Het
Fanca A T 8: 124,039,803 (GRCm39) M157K possibly damaging Het
Flt1 A T 5: 147,615,049 (GRCm39) I299N probably damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gns A G 10: 121,212,611 (GRCm39) Y191C probably damaging Het
Grin2a T C 16: 9,462,063 (GRCm39) T690A possibly damaging Het
Gsk3b C T 16: 37,909,763 (GRCm39) probably benign Het
Igsf10 A G 3: 59,233,000 (GRCm39) V1911A probably benign Het
Igsf3 A G 3: 101,334,393 (GRCm39) K157E probably benign Het
Inpp5a T C 7: 139,091,369 (GRCm39) Y118H probably benign Het
Kmt2a A G 9: 44,752,359 (GRCm39) V1413A unknown Het
Mettl9 T A 7: 120,656,440 (GRCm39) V190E probably damaging Het
Mrps9 T C 1: 42,935,258 (GRCm39) L188P probably benign Het
Myo9a A T 9: 59,777,719 (GRCm39) R1158S possibly damaging Het
Nacad T G 11: 6,548,621 (GRCm39) Q1371P probably benign Het
Ncoa1 T C 12: 4,344,987 (GRCm39) M787V probably benign Het
Noxred1 A T 12: 87,273,855 (GRCm39) I62K probably benign Het
Or1j4 A T 2: 36,740,316 (GRCm39) H86L probably benign Het
Or2y17 A G 11: 49,232,226 (GRCm39) Y289C probably damaging Het
Or52d1 A G 7: 103,755,657 (GRCm39) Y57C probably damaging Het
Otud6b A G 4: 14,818,185 (GRCm39) Y239H probably damaging Het
Pank1 A G 19: 34,818,366 (GRCm39) Y233H probably damaging Het
Pccb G T 9: 100,877,645 (GRCm39) D286E probably benign Het
Plek A C 11: 16,940,121 (GRCm39) L196R probably benign Het
Pou6f2 T C 13: 18,299,931 (GRCm39) H576R Het
Rbm47 T A 5: 66,184,354 (GRCm39) Y83F probably damaging Het
Rbm6 A T 9: 107,665,049 (GRCm39) Y787N probably damaging Het
Slc8a2 C A 7: 15,868,419 (GRCm39) A217E probably damaging Het
Suox G A 10: 128,507,164 (GRCm39) A288V probably damaging Het
Tbccd1 T C 16: 22,640,873 (GRCm39) I501M probably damaging Het
Tjp2 C A 19: 24,075,493 (GRCm39) G1042* probably null Het
Tmtc2 T C 10: 105,249,268 (GRCm39) Y155C probably damaging Het
Usp7 T C 16: 8,516,359 (GRCm39) N600S probably benign Het
Zer1 T C 2: 29,991,132 (GRCm39) I699V probably damaging Het
Zfp142 A G 1: 74,618,687 (GRCm39) F227S probably damaging Het
Other mutations in Or2d3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Or2d3b APN 7 106,514,235 (GRCm39) missense probably damaging 1.00
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
R2258:Or2d3b UTSW 7 106,514,113 (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'- AGGCTCAAGGTCTTCTCCAC -3'
(R):5'- TGTTTGCTGACACATACTTAGATGC -3'

Sequencing Primer
(F):5'- CAAGGTCTTCTCCACCTGTG -3'
(R):5'- AAAGAGCTTTGCTGTTTCTGCTC -3'
Posted On 2019-06-07