Incidental Mutation 'PIT4504001:Or2n1b'
ID 556038
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # PIT4504001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 38459481-38460419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38460060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 194 (T194A)
Ref Sequence ENSEMBL: ENSMUSP00000149451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113636] [ENSMUST00000173610] [ENSMUST00000215078] [ENSMUST00000215549]
AlphaFold Q8VG94
Predicted Effect probably benign
Transcript: ENSMUST00000113636
AA Change: T194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109266
Gene: ENSMUSG00000063240
AA Change: T194A

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

Pfam:7tm_1 55 109 3.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215078
AA Change: T194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215549
AA Change: T194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.6%
  • 10x: 84.7%
  • 20x: 71.6%
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
Abtb2 T A 2: 103,547,537 (GRCm39) C970* probably null Het
Adgrv1 G A 13: 81,707,471 (GRCm39) P1312S probably damaging Het
Arid5a T C 1: 36,356,706 (GRCm39) I116T probably damaging Het
Bank1 C A 3: 135,806,180 (GRCm39) D485Y probably damaging Het
Cbln3 C T 14: 56,120,956 (GRCm39) V122M probably damaging Het
Cox10 C T 11: 63,855,042 (GRCm39) C413Y possibly damaging Het
Ctsll3 T A 13: 60,948,823 (GRCm39) D44V probably benign Het
Cuzd1 A T 7: 130,911,529 (GRCm39) N483K possibly damaging Het
Dcaf4 G A 12: 83,580,785 (GRCm39) probably null Het
Ddx60 A G 8: 62,411,147 (GRCm39) T470A probably benign Het
Dennd1b T C 1: 138,967,742 (GRCm39) V44A probably benign Het
Dusp16 C A 6: 134,716,846 (GRCm39) V154F possibly damaging Het
Ect2 G A 3: 27,181,097 (GRCm39) R586* probably null Het
Ermard T A 17: 15,279,084 (GRCm39) C460* probably null Het
Fat2 C T 11: 55,146,936 (GRCm39) G4020D possibly damaging Het
Flacc1 T A 1: 58,698,258 (GRCm39) I348F probably benign Het
Galnt16 G T 12: 80,639,191 (GRCm39) E402* probably null Het
Gm5414 T G 15: 101,534,258 (GRCm39) D282A probably damaging Het
Gm6741 C T 17: 91,544,344 (GRCm39) Q36* probably null Het
Gm7356 A T 17: 14,221,720 (GRCm39) L103Q probably damaging Het
Hcn1 A G 13: 118,112,411 (GRCm39) T792A possibly damaging Het
Hemgn T C 4: 46,395,863 (GRCm39) N458D probably benign Het
Hesx1 C A 14: 26,723,838 (GRCm39) D140E probably benign Het
Hjv A T 3: 96,435,813 (GRCm39) D357V probably damaging Het
Hmgcr A G 13: 96,799,605 (GRCm39) I163T possibly damaging Het
Igfbpl1 T C 4: 45,813,469 (GRCm39) T249A possibly damaging Het
Il33 A T 19: 29,930,139 (GRCm39) H78L probably benign Het
Inpp4b A T 8: 82,768,564 (GRCm39) D691V probably damaging Het
Itpr2 T A 6: 146,131,369 (GRCm39) N1945I probably damaging Het
Lnpep A G 17: 17,799,289 (GRCm39) V122A probably benign Het
Lrp2 T C 2: 69,305,747 (GRCm39) D2938G probably damaging Het
Lrrc8c A T 5: 105,756,403 (GRCm39) Y726F probably benign Het
Magi3 G T 3: 103,922,842 (GRCm39) Q1292K probably benign Het
Mllt3 A C 4: 87,692,324 (GRCm39) F546L probably damaging Het
Mrpl14 A G 17: 46,009,147 (GRCm39) K82R probably benign Het
Noxred1 A G 12: 87,271,653 (GRCm39) V172A possibly damaging Het
Obscn A T 11: 59,023,948 (GRCm39) I574N probably damaging Het
Or5k8 T A 16: 58,644,671 (GRCm39) T134S probably benign Het
Osbpl11 T A 16: 33,054,864 (GRCm39) V649D probably benign Het
Pdlim2 G T 14: 70,403,579 (GRCm39) P278T probably benign Het
Pm20d2 A C 4: 33,183,152 (GRCm39) L223V probably damaging Het
Pmpcb G T 5: 21,948,388 (GRCm39) R223L probably damaging Het
Pole2 A T 12: 69,256,759 (GRCm39) Y255* probably null Het
Rims1 T A 1: 22,467,684 (GRCm39) I317L Het
Scnn1g C A 7: 121,341,554 (GRCm39) H239N probably benign Het
Spag17 A G 3: 100,010,426 (GRCm39) probably null Het
Tenm3 A T 8: 48,746,692 (GRCm39) F1038I probably damaging Het
Tshz2 T C 2: 169,727,971 (GRCm39) F856L probably damaging Het
Ubtf A G 11: 102,197,508 (GRCm39) S715P unknown Het
Usp13 A C 3: 32,959,579 (GRCm39) S557R probably damaging Het
Usp19 T A 9: 108,370,169 (GRCm39) S43T probably benign Het
Vmn2r7 A T 3: 64,623,397 (GRCm39) Y308N probably benign Het
Zfp455 A G 13: 67,346,685 (GRCm39) D32G probably damaging Het
Zfp512 T A 5: 31,634,225 (GRCm39) probably null Het
Zfr A G 15: 12,166,244 (GRCm39) E838G 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
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
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

Sequencing Primer
Posted On 2019-06-07