Incidental Mutation 'R2496:Or2n1b'
ID 251239
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 040410-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R2496 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 38459481-38460419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38460322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 281 (V281A)
Ref Sequence ENSEMBL: ENSMUSP00000150597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113636] [ENSMUST00000173610] [ENSMUST00000215078] [ENSMUST00000215549]
AlphaFold Q8VG94
Predicted Effect possibly damaging
Transcript: ENSMUST00000113636
AA Change: V281A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109266
Gene: ENSMUSG00000063240
AA Change: V281A

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
SMART Domains Protein: ENSMUSP00000133824
Gene: ENSMUSG00000063240

DomainStartEndE-ValueType
Pfam:7tm_1 55 109 3.3e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215078
AA Change: V281A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215549
AA Change: V281A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,761,065 (GRCm39) W1926R probably damaging Het
Arhgef25 T C 10: 127,023,063 (GRCm39) T106A probably benign Het
Baz1b G A 5: 135,239,629 (GRCm39) R243Q probably damaging Het
Cdhr3 A G 12: 33,099,068 (GRCm39) Y508H probably benign Het
Cyp2d9 T A 15: 82,336,680 (GRCm39) W10R probably damaging Het
Dmxl1 A G 18: 50,013,858 (GRCm39) T1549A possibly damaging Het
Dnah8 A T 17: 31,070,705 (GRCm39) R4464W probably damaging Het
Dpp4 G A 2: 62,217,477 (GRCm39) T40M possibly damaging Het
Dync1h1 A G 12: 110,607,654 (GRCm39) H2723R possibly damaging Het
E2f3 C T 13: 30,095,289 (GRCm39) S333N probably damaging Het
Fam120a G T 13: 49,121,069 (GRCm39) A79E probably damaging Het
Fat3 A G 9: 15,877,399 (GRCm39) S3405P probably benign Het
Gaa T C 11: 119,174,531 (GRCm39) S793P possibly damaging Het
Galc A C 12: 98,193,540 (GRCm39) F350V probably damaging Het
Garre1 A G 7: 33,955,916 (GRCm39) V391A possibly damaging Het
Gm136 A G 4: 34,746,541 (GRCm39) C157R probably damaging Het
Gm3327 A C 14: 44,363,720 (GRCm39) N108T unknown Het
H2-M10.2 A G 17: 36,596,771 (GRCm39) Y102H possibly damaging Het
Hmcn1 A T 1: 150,490,972 (GRCm39) D4192E probably benign Het
Hpse2 A C 19: 43,001,482 (GRCm39) probably null Het
Idh3a T C 9: 54,510,633 (GRCm39) V362A probably benign Het
Kdm7a A T 6: 39,147,697 (GRCm39) probably null Het
Krt6b A G 15: 101,588,216 (GRCm39) V148A probably damaging Het
Lrba G A 3: 86,439,394 (GRCm39) R1977H probably damaging Het
Magi2 A T 5: 19,883,750 (GRCm39) Y134F probably benign Het
Mamdc4 T C 2: 25,455,914 (GRCm39) Y801C probably damaging Het
Maml1 T C 11: 50,149,371 (GRCm39) T790A probably benign Het
Map3k19 A G 1: 127,750,823 (GRCm39) Y843H probably damaging Het
Mdfic A T 6: 15,741,041 (GRCm39) H45L possibly damaging Het
Mlx C T 11: 100,979,080 (GRCm39) T87I probably benign Het
Mms22l T A 4: 24,521,269 (GRCm39) I382K probably benign Het
Mtf1 A G 4: 124,732,697 (GRCm39) N585S probably benign Het
Mylk2 C T 2: 152,755,588 (GRCm39) P251S probably damaging Het
Myorg A G 4: 41,499,165 (GRCm39) V155A probably benign Het
Nox4 A T 7: 86,955,958 (GRCm39) T157S probably benign Het
Oas2 A T 5: 120,886,682 (GRCm39) H161Q probably benign Het
Obscn A T 11: 58,994,268 (GRCm39) V1563E probably damaging Het
Or55b3 T C 7: 102,126,354 (GRCm39) K241R probably damaging Het
Or6c203 A C 10: 129,009,966 (GRCm39) F308C probably benign Het
Pcdhb11 T A 18: 37,555,375 (GRCm39) I235N probably benign Het
Pcsk5 A T 19: 17,443,522 (GRCm39) C1212* probably null Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rsph4a A T 10: 33,784,094 (GRCm39) I239L possibly damaging Het
Setx A G 2: 29,034,813 (GRCm39) I433V probably benign Het
Smyd4 T C 11: 75,281,927 (GRCm39) S467P probably benign Het
Snai2 A T 16: 14,523,866 (GRCm39) H10L possibly damaging Het
Snw1 T C 12: 87,497,589 (GRCm39) I467V probably benign Het
Stab1 A T 14: 30,883,420 (GRCm39) C301S probably damaging Het
Tax1bp1 T A 6: 52,735,342 (GRCm39) probably null Het
Tmem70 C A 1: 16,735,575 (GRCm39) P15Q probably benign Het
Tmem87a T C 2: 120,224,859 (GRCm39) E134G probably damaging Het
Ubr4 C T 4: 139,200,516 (GRCm39) probably benign Het
Ugt2b37 C T 5: 87,402,569 (GRCm39) V21M probably damaging Het
Ugt2b38 T A 5: 87,569,551 (GRCm39) I259F probably damaging Het
Zfp804a T A 2: 82,066,188 (GRCm39) L53Q probably 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
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
R7046:Or2n1b UTSW 17 38,459,691 (GRCm39) missense probably benign 0.00
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'- GAGCTTGCTCTCTCAGTAGTATGC -3'
(R):5'- CAGATGAGTTTTGTACAGGGAATG -3'

Sequencing Primer
(F):5'- GCCTCCTATGCTAGTATTGGACATG -3'
(R):5'- GTTTTGTACAGGGAATGAATTACAGG -3'
Posted On 2014-12-04