Incidental Mutation 'R7046:Or2n1b'
ID 547345
Institutional Source Beutler Lab
Gene Symbol Or2n1b
Ensembl Gene ENSMUSG00000063240
Gene Name olfactory receptor family 2 subfamily N member 1B
Synonyms GA_x6K02T2PSCP-2597192-2598130, MOR256-6, Olfr133
MMRRC Submission 045144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R7046 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 38459481-38460419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38459691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 71 (M71L)
Ref Sequence ENSEMBL: ENSMUSP00000150597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113636] [ENSMUST00000173610] [ENSMUST00000215078] [ENSMUST00000215549]
AlphaFold Q8VG94
Predicted Effect probably benign
Transcript: ENSMUST00000113636
AA Change: M71L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000109266
Gene: ENSMUSG00000063240
AA Change: M71L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 27 305 3.4e-7 PFAM
Pfam:7tm_4 31 308 6.1e-52 PFAM
Pfam:7tm_1 41 290 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173610
AA Change: M71L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000133824
Gene: ENSMUSG00000063240
AA Change: M71L

DomainStartEndE-ValueType
Pfam:7tm_1 55 109 3.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215078
AA Change: M71L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000215549
AA Change: M71L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,772,364 (GRCm39) Y805C probably damaging Het
Aoc1l3 T A 6: 48,964,512 (GRCm39) D173E probably benign Het
Cabp7 T A 11: 4,688,886 (GRCm39) I195F probably damaging Het
Camsap1 T C 2: 25,835,201 (GRCm39) N317S probably damaging Het
Ccdc127 T G 13: 74,500,994 (GRCm39) L4V probably damaging Het
Ccdc7a T C 8: 129,774,100 (GRCm39) E145G probably damaging Het
Cdh10 T A 15: 19,013,287 (GRCm39) V629D probably damaging Het
Cdh23 A C 10: 60,214,530 (GRCm39) L1497R probably damaging Het
Chsy3 A G 18: 59,542,875 (GRCm39) K671R probably benign Het
Clca4b T C 3: 144,621,367 (GRCm39) Y569C probably damaging Het
Cnga1 T C 5: 72,786,696 (GRCm39) probably benign Het
Cyp51 T A 5: 4,150,188 (GRCm39) E178D probably damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah14 G T 1: 181,450,568 (GRCm39) C727F probably benign Het
Egf A T 3: 129,548,607 (GRCm39) W3R unknown Het
Egfem1 G A 3: 29,136,364 (GRCm39) probably null Het
Epb41l1 G T 2: 156,368,812 (GRCm39) V682L possibly damaging Het
Etv1 A G 12: 38,834,369 (GRCm39) probably null Het
Faap100 A G 11: 120,268,200 (GRCm39) F191S possibly damaging Het
Fmo1 T A 1: 162,667,263 (GRCm39) D184V possibly damaging Het
Ghrl A G 6: 113,696,344 (GRCm39) L16P probably damaging Het
Gria4 T A 9: 4,420,278 (GRCm39) L861F probably damaging Het
Gsr T A 8: 34,185,090 (GRCm39) M428K probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kbtbd12 A G 6: 88,595,497 (GRCm39) M111T possibly damaging Het
Krtap21-1 G T 16: 89,200,623 (GRCm39) Y6* probably null Het
Lin9 A G 1: 180,494,935 (GRCm39) D219G probably damaging Het
Lrrc38 A G 4: 143,076,739 (GRCm39) M1V probably null Het
Macc1 T G 12: 119,410,773 (GRCm39) F514V probably benign Het
Madcam1 C T 10: 79,504,139 (GRCm39) R242C probably benign Het
Mfhas1 T C 8: 36,131,944 (GRCm39) S1037P probably benign Het
Micall2 C T 5: 139,694,699 (GRCm39) probably benign Het
Mtr C A 13: 12,205,095 (GRCm39) A1122S possibly damaging Het
Muc6 T A 7: 141,226,456 (GRCm39) probably benign Het
Myh15 T A 16: 48,929,662 (GRCm39) C529* probably null Het
Napsa T C 7: 44,234,509 (GRCm39) V247A probably damaging Het
Nr2c2 A G 6: 92,135,338 (GRCm39) T309A probably damaging Het
Or1e26 A T 11: 73,480,558 (GRCm39) I2K probably benign Het
Or1q1 T A 2: 36,887,173 (GRCm39) V117E probably benign Het
Osgepl1 A T 1: 53,360,710 (GRCm39) I384F possibly damaging Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pds5b A G 5: 150,673,385 (GRCm39) Y481C probably damaging Het
Pdzrn4 T A 15: 92,668,303 (GRCm39) Y818* probably null Het
Pin1rt1 T C 2: 104,544,767 (GRCm39) S122G probably benign Het
Pkdcc A T 17: 83,531,687 (GRCm39) Y487F probably damaging Het
Plxna4 C T 6: 32,493,440 (GRCm39) C392Y probably damaging Het
Psd4 T G 2: 24,284,985 (GRCm39) M283R probably benign Het
Ralgds G T 2: 28,430,741 (GRCm39) G68W probably damaging Het
Rmdn2 T A 17: 79,928,808 (GRCm39) I20N probably damaging Het
Sestd1 A G 2: 77,022,910 (GRCm39) V486A probably benign Het
Skic8 T A 9: 54,626,539 (GRCm39) D275V probably damaging Het
Spmap2 G T 10: 79,422,796 (GRCm39) D35E probably benign Het
Tango6 A G 8: 107,533,748 (GRCm39) H958R possibly damaging Het
Taok3 C T 5: 117,411,771 (GRCm39) R857C probably damaging Het
Tasor A T 14: 27,194,392 (GRCm39) L1197F probably damaging Het
Trio T C 15: 27,832,137 (GRCm39) E1245G probably damaging Het
Usp19 C T 9: 108,374,334 (GRCm39) H763Y possibly damaging Het
Vmn1r185 A G 7: 26,310,651 (GRCm39) S285P probably damaging Het
Vmn1r45 T G 6: 89,910,538 (GRCm39) Y144S probably benign Het
Vwa3b G A 1: 37,212,959 (GRCm39) E152K probably benign Het
Xrcc5 G A 1: 72,433,875 (GRCm39) M731I probably benign Het
Zfp619 G A 7: 39,186,787 (GRCm39) S939N possibly damaging Het
Zfp874a C A 13: 67,590,418 (GRCm39) C422F probably damaging Het
Zfp948 A G 17: 21,808,719 (GRCm39) D637G possibly damaging Het
Other mutations in Or2n1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Or2n1b APN 17 38,459,746 (GRCm39) missense probably benign
IGL02486:Or2n1b APN 17 38,460,112 (GRCm39) missense probably damaging 1.00
IGL02574:Or2n1b APN 17 38,460,280 (GRCm39) missense possibly damaging 0.56
PIT4243001:Or2n1b UTSW 17 38,460,394 (GRCm39) missense probably benign 0.06
PIT4504001:Or2n1b UTSW 17 38,460,060 (GRCm39) missense probably benign
R0726:Or2n1b UTSW 17 38,459,515 (GRCm39) missense probably damaging 1.00
R2242:Or2n1b UTSW 17 38,459,613 (GRCm39) missense possibly damaging 0.87
R2496:Or2n1b UTSW 17 38,460,322 (GRCm39) missense possibly damaging 0.91
R4579:Or2n1b UTSW 17 38,460,296 (GRCm39) missense probably damaging 1.00
R5085:Or2n1b UTSW 17 38,460,003 (GRCm39) missense probably damaging 1.00
R6273:Or2n1b UTSW 17 38,459,833 (GRCm39) missense possibly damaging 0.94
R6344:Or2n1b UTSW 17 38,459,611 (GRCm39) missense probably benign 0.01
R7090:Or2n1b UTSW 17 38,460,385 (GRCm39) missense probably benign 0.33
R7213:Or2n1b UTSW 17 38,459,965 (GRCm39) missense probably benign 0.00
R8874:Or2n1b UTSW 17 38,459,623 (GRCm39) missense possibly damaging 0.78
R9185:Or2n1b UTSW 17 38,459,754 (GRCm39) missense probably damaging 1.00
R9334:Or2n1b UTSW 17 38,459,840 (GRCm39) missense probably benign 0.01
R9703:Or2n1b UTSW 17 38,459,856 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CTACTTGGTTTTGCAGACCGTC -3'
(R):5'- TGGACACTAACAGGACACAGTTG -3'

Sequencing Primer
(F):5'- AGACCGTCCTTGGCTGGAAC -3'
(R):5'- AGTTGCGCTGATTCATTATGAG -3'
Posted On 2019-05-13