Incidental Mutation 'R9703:Or2n1b'
ID 729689
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R9703 (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 T at 38459856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 126 (I126F)
Ref Sequence ENSEMBL: ENSMUSP00000149451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113636] [ENSMUST00000173610] [ENSMUST00000215078] [ENSMUST00000215549]
AlphaFold Q8VG94
Predicted Effect possibly damaging
Transcript: ENSMUST00000113636
AA Change: I126F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109266
Gene: ENSMUSG00000063240
AA Change: I126F

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: I126F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215549
AA Change: I126F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T A 8: 41,248,971 (GRCm39) N360K probably damaging Het
Aoc1l2 A G 6: 48,909,629 (GRCm39) T625A probably benign Het
Apob T A 12: 8,030,507 (GRCm39) L82Q probably damaging Het
Arhgap30 T G 1: 171,235,339 (GRCm39) L571R probably damaging Het
Atg9a C T 1: 75,162,431 (GRCm39) C493Y probably damaging Het
Brip1 T C 11: 85,952,830 (GRCm39) T984A possibly damaging Het
Btbd9 A G 17: 30,749,200 (GRCm39) V38A possibly damaging Het
Crocc2 C A 1: 93,130,444 (GRCm39) D908E probably benign Het
Crybg3 C G 16: 59,375,939 (GRCm39) A58P probably damaging Het
Cts7 T C 13: 61,504,350 (GRCm39) N71S probably damaging Het
Ddx46 A G 13: 55,824,635 (GRCm39) Y962C probably damaging Het
Dock10 G A 1: 80,517,540 (GRCm39) R1373C probably damaging Het
Dock9 A T 14: 121,781,989 (GRCm39) *2043R probably null Het
Efs A T 14: 55,156,871 (GRCm39) V388E possibly damaging Het
Esyt1 C T 10: 128,354,796 (GRCm39) probably null Het
Extl3 G T 14: 65,292,103 (GRCm39) R907S probably damaging Het
Fcgbp G A 7: 27,806,400 (GRCm39) V2123M probably damaging Het
Gas2l3 C T 10: 89,249,943 (GRCm39) A392T probably benign Het
Golm1 A T 13: 59,797,433 (GRCm39) D137E probably benign Het
Grxcr2 T C 18: 42,124,988 (GRCm39) D140G possibly damaging Het
H2ac19 G A 3: 96,147,557 (GRCm39) R4C probably benign Het
Hrh1 G A 6: 114,457,979 (GRCm39) C420Y probably benign Het
Ints13 A T 6: 146,459,063 (GRCm39) L316Q probably damaging Het
Iws1 T A 18: 32,212,738 (GRCm39) D55E probably damaging Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Klrc2 G C 6: 129,633,407 (GRCm39) S215* probably null Het
Muc5b A G 7: 141,425,535 (GRCm39) T4727A possibly damaging Het
Nsd3 T C 8: 26,131,228 (GRCm39) S198P probably benign Het
Or6c214 A T 10: 129,591,286 (GRCm39) I11N possibly damaging Het
Ovch2 T A 7: 107,383,777 (GRCm39) I523F probably damaging Het
Pals1 T A 12: 78,843,850 (GRCm39) I18K probably benign Het
Pcdhb1 T A 18: 37,399,019 (GRCm39) D323E probably damaging Het
Pfkl T A 10: 77,826,142 (GRCm39) probably null Het
Pigc T A 1: 161,798,176 (GRCm39) F53I probably benign Het
Pramel29 T A 4: 143,939,510 (GRCm39) D9V probably damaging Het
Prph2 G A 17: 47,234,447 (GRCm39) A339T unknown Het
Prrc2a T C 17: 35,378,320 (GRCm39) K452E unknown Het
Rab36 T C 10: 74,886,474 (GRCm39) W151R possibly damaging Het
Sdk1 A G 5: 142,100,283 (GRCm39) T1438A possibly damaging Het
Slc25a17 A T 15: 81,224,193 (GRCm39) I55K probably damaging Het
Smg1 A T 7: 117,739,744 (GRCm39) I3401N possibly damaging Het
Smpd3 T A 8: 106,991,713 (GRCm39) H280L probably damaging Het
Srsf10 A G 4: 135,591,153 (GRCm39) H202R probably benign Het
Swap70 C T 7: 109,872,512 (GRCm39) R376C probably damaging Het
Syde1 G T 10: 78,421,557 (GRCm39) L665M probably damaging Het
Tha1 A G 11: 117,761,863 (GRCm39) V126A probably damaging Het
Tln2 T C 9: 67,293,938 (GRCm39) H230R probably damaging Het
Tnc G A 4: 63,889,412 (GRCm39) A1698V probably benign Het
Twist2 C A 1: 91,729,744 (GRCm39) S132R probably damaging Het
Ubr1 C T 2: 120,732,092 (GRCm39) C1170Y probably damaging Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L 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
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
Predicted Primers PCR Primer
(F):5'- TTCTGGACATGTGCTACACC -3'
(R):5'- ACTGAGAGAGCAAGCTCATTAGTC -3'

Sequencing Primer
(F):5'- CACAAGCATTGTACCTCAGATG -3'
(R):5'- AGTCTCTTTTTCACCACAAGCAG -3'
Posted On 2022-10-06