Incidental Mutation 'R5475:Or2bd2'
ID 434019
Institutional Source Beutler Lab
Gene Symbol Or2bd2
Ensembl Gene ENSMUSG00000090824
Gene Name olfactory receptor family 2 subfamily BD member 2
Synonyms GA_x6K02T2QGBW-3169916-3170881, MOR124-1, Olfr1344, 4930415J05Rik
MMRRC Submission 043036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5475 (G1)
Quality Score 165
Status Validated
Chromosome 7
Chromosomal Location 6442901-6443866 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6443169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 90 (R90L)
Ref Sequence ENSEMBL: ENSMUSP00000151666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054781] [ENSMUST00000168341] [ENSMUST00000218906]
AlphaFold Q7TQV3
Predicted Effect probably benign
Transcript: ENSMUST00000054781
SMART Domains Protein: ENSMUSP00000050428
Gene: ENSMUSG00000045929

DomainStartEndE-ValueType
low complexity region 57 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168341
AA Change: R90L

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: R90L

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3e-49 PFAM
Pfam:7TM_GPCR_Srsx 37 224 1.9e-7 PFAM
Pfam:7tm_1 43 295 1.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218906
AA Change: R90L

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency 96% (72/75)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
AA467197 A G 2: 122,482,646 (GRCm39) K70R probably damaging Het
Agr3 A G 12: 35,997,539 (GRCm39) N83S probably benign Het
Alpk2 T C 18: 65,440,083 (GRCm39) T904A probably benign Het
Ank A T 15: 27,557,285 (GRCm39) K156N probably damaging Het
Arsb T G 13: 93,998,773 (GRCm39) D360E probably benign Het
Atg14 C T 14: 47,805,793 (GRCm39) R24Q possibly damaging Het
Cacna1e A T 1: 154,601,455 (GRCm39) F71I possibly damaging Het
Cdc42bpg T C 19: 6,361,101 (GRCm39) I242T probably damaging Het
Cngb1 A T 8: 95,978,597 (GRCm39) I588N probably damaging Het
Col6a6 T C 9: 105,651,537 (GRCm39) H1158R probably null Het
Cse1l T C 2: 166,783,174 (GRCm39) S684P probably damaging Het
Cyp2c29 A T 19: 39,318,731 (GRCm39) M404L possibly damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dph7 A T 2: 24,858,969 (GRCm39) probably null Het
Dsg1c A T 18: 20,415,088 (GRCm39) N662Y probably damaging Het
Efcab9 T G 11: 32,472,862 (GRCm39) D195A probably damaging Het
Ephb4 A G 5: 137,352,701 (GRCm39) M95V probably benign Het
Fam171a1 A T 2: 3,226,334 (GRCm39) Y489F possibly damaging Het
Fars2 T C 13: 36,388,553 (GRCm39) I14T probably benign Het
Fbxo34 T C 14: 47,766,802 (GRCm39) V54A probably benign Het
Fbxw17 T C 13: 50,579,684 (GRCm39) I167T probably benign Het
Fzd9 A T 5: 135,279,123 (GRCm39) probably null Het
Gm26996 T A 6: 130,556,918 (GRCm39) noncoding transcript Het
Gm4744 A G 6: 40,927,388 (GRCm39) probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Has1 C A 17: 18,068,583 (GRCm39) R257L possibly damaging Het
Hjv T C 3: 96,434,599 (GRCm39) S113P probably benign Het
Hsd17b8 C T 17: 34,246,287 (GRCm39) probably benign Het
Kat2b T G 17: 53,970,609 (GRCm39) V665G probably damaging Het
Klhdc4 T A 8: 122,526,311 (GRCm39) H276L possibly damaging Het
Klhl6 A T 16: 19,766,877 (GRCm39) C506S probably damaging Het
Ldb2 T C 5: 44,699,174 (GRCm39) Y88C probably damaging Het
Lrit1 A G 14: 36,776,958 (GRCm39) E26G probably benign Het
Mcoln2 A G 3: 145,889,541 (GRCm39) Y414C probably damaging Het
Mfsd5 A G 15: 102,188,928 (GRCm39) D100G probably damaging Het
Micall2 T A 5: 139,702,224 (GRCm39) S340C probably damaging Het
Npsr1 T C 9: 24,211,715 (GRCm39) I81T probably damaging Het
Or2t49 A G 11: 58,392,431 (GRCm39) V317A probably benign Het
Or6x1 T A 9: 40,099,005 (GRCm39) L198H possibly damaging Het
Or8b56 T A 9: 38,739,762 (GRCm39) F258L possibly damaging Het
Pax3 T C 1: 78,080,055 (GRCm39) T444A probably benign Het
Pea15a A G 1: 172,026,809 (GRCm39) probably null Het
Phc1 T A 6: 122,311,051 (GRCm39) Q95L possibly damaging Het
Plch2 T C 4: 155,084,594 (GRCm39) Y361C probably damaging Het
Pphln1-ps1 A T 16: 13,494,977 (GRCm39) R25S possibly damaging Het
Rad54l2 C T 9: 106,583,057 (GRCm39) G787D probably damaging Het
Rbm20 G T 19: 53,823,136 (GRCm39) E578* probably null Het
Sipa1l2 A T 8: 126,218,334 (GRCm39) D334E probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thumpd1 A G 7: 119,319,943 (GRCm39) S8P probably benign Het
Tnxb T C 17: 34,908,567 (GRCm39) Y1407H probably damaging Het
Trav2 T A 14: 52,805,290 (GRCm39) V37E probably damaging Het
Trav3-1 G T 14: 52,818,494 (GRCm39) W56L probably damaging Het
Usp31 A T 7: 121,250,749 (GRCm39) L808Q probably damaging Het
Vmn1r52 C T 6: 90,155,894 (GRCm39) A66V probably benign Het
Vmn2r105 T A 17: 20,455,044 (GRCm39) I31L probably benign Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zbtb2 G T 10: 4,319,275 (GRCm39) F250L probably benign Het
Other mutations in Or2bd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02217:Or2bd2 APN 7 6,443,244 (GRCm39) missense probably damaging 0.96
IGL02689:Or2bd2 APN 7 6,443,574 (GRCm39) missense possibly damaging 0.95
IGL02935:Or2bd2 APN 7 6,443,753 (GRCm39) missense possibly damaging 0.91
R0100:Or2bd2 UTSW 7 6,443,399 (GRCm39) missense probably damaging 1.00
R0100:Or2bd2 UTSW 7 6,443,399 (GRCm39) missense probably damaging 1.00
R0108:Or2bd2 UTSW 7 6,443,399 (GRCm39) missense probably damaging 1.00
R4041:Or2bd2 UTSW 7 6,443,688 (GRCm39) missense probably damaging 1.00
R4247:Or2bd2 UTSW 7 6,441,901 (GRCm39) utr 5 prime probably benign
R5275:Or2bd2 UTSW 7 6,443,015 (GRCm39) missense probably benign 0.01
R6016:Or2bd2 UTSW 7 6,443,613 (GRCm39) missense probably benign
R6048:Or2bd2 UTSW 7 6,443,354 (GRCm39) missense possibly damaging 0.58
R6541:Or2bd2 UTSW 7 6,443,492 (GRCm39) missense probably benign 0.04
R7945:Or2bd2 UTSW 7 6,443,354 (GRCm39) missense probably benign
R8134:Or2bd2 UTSW 7 6,441,922 (GRCm39) utr 5 prime probably benign
R8893:Or2bd2 UTSW 7 6,443,285 (GRCm39) missense probably damaging 1.00
R8956:Or2bd2 UTSW 7 6,442,020 (GRCm39) splice site probably benign
R9211:Or2bd2 UTSW 7 6,443,417 (GRCm39) missense probably damaging 1.00
R9639:Or2bd2 UTSW 7 6,443,290 (GRCm39) missense probably benign 0.12
X0060:Or2bd2 UTSW 7 6,443,074 (GRCm39) missense probably damaging 1.00
Z1177:Or2bd2 UTSW 7 6,443,820 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GTGGGCCTCACTTCTTCTAG -3'
(R):5'- CGCATTGGGTACAGAGAGTG -3'

Sequencing Primer
(F):5'- AGCCTACCTCACCACTGTG -3'
(R):5'- AGTGCAAAGCCCAGTGTC -3'
Posted On 2016-10-06