Incidental Mutation 'R0132:Chrnb2'
ID 21676
Institutional Source Beutler Lab
Gene Symbol Chrnb2
Ensembl Gene ENSMUSG00000027950
Gene Name cholinergic receptor nicotinic beta 2 subunit
Synonyms C030030P04Rik, Acrb2, [b]2-nAchR, Acrb-2
MMRRC Submission 038417-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R0132 (G1)
Quality Score 127
Status Validated (trace)
Chromosome 3
Chromosomal Location 89660755-89671939 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 89671713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000143441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029562] [ENSMUST00000200558]
AlphaFold Q9ERK7
Predicted Effect probably null
Transcript: ENSMUST00000029562
AA Change: M1V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 29 234 5.6e-75 PFAM
Pfam:Neur_chan_memb 241 477 1.7e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000038450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199372
Predicted Effect probably null
Transcript: ENSMUST00000200558
AA Change: M1V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: M1V

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Neur_chan_LBD 29 234 1.5e-71 PFAM
Pfam:Neur_chan_memb 241 454 4.8e-61 PFAM
low complexity region 657 666 N/A INTRINSIC
Meta Mutation Damage Score 0.9696 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.2%
  • 20x: 84.8%
Validation Efficiency 90% (52/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have impaired responses to nicotine, but show improved passive avoidance behavior. With age, mutants show more neurodegeneration and alterations of the visual system, with decreased cortical visual acuity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,258,197 (GRCm39) I773T probably benign Het
Adamtsl1 T A 4: 86,260,960 (GRCm39) I1057N possibly damaging Het
Anxa5 G A 3: 36,504,821 (GRCm39) A247V probably damaging Het
Ascc3 T G 10: 50,611,425 (GRCm39) W1589G probably damaging Het
Atp2b2 G A 6: 113,770,743 (GRCm39) P389S probably damaging Het
Bpifa6 T A 2: 153,824,851 (GRCm39) S9T probably benign Het
Cfhr4 T A 1: 139,682,009 (GRCm39) T196S probably damaging Het
Chd8 A G 14: 52,442,783 (GRCm39) V589A probably benign Het
Col16a1 T A 4: 129,960,889 (GRCm39) V449E unknown Het
Cttnbp2nl T G 3: 104,913,173 (GRCm39) K237T probably damaging Het
Dazap1 T G 10: 80,114,060 (GRCm39) probably null Het
Fam187b T A 7: 30,688,545 (GRCm39) V22E probably damaging Het
Fcgbpl1 A G 7: 27,837,040 (GRCm39) R320G probably damaging Het
H2-T24 T A 17: 36,325,878 (GRCm39) I238F probably damaging Het
Hectd4 A G 5: 121,471,087 (GRCm39) E2658G probably benign Het
Herc1 A C 9: 66,388,192 (GRCm39) I3826L probably benign Het
Hinfp A G 9: 44,211,060 (GRCm39) C67R probably damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Hspg2 T C 4: 137,279,198 (GRCm39) Y3094H probably damaging Het
Htr1f A G 16: 64,747,091 (GRCm39) V67A probably damaging Het
Iqcc T G 4: 129,510,392 (GRCm39) E374D probably damaging Het
Kcnj9 T C 1: 172,153,765 (GRCm39) T120A probably damaging Het
Kitl C T 10: 99,923,226 (GRCm39) P208S probably benign Het
Lpcat4 A G 2: 112,077,093 (GRCm39) Y479C probably damaging Het
Lrrc74b T C 16: 17,371,016 (GRCm39) N227S probably damaging Het
Mdc1 T A 17: 36,163,473 (GRCm39) V1007D probably damaging Het
Mocos T G 18: 24,812,819 (GRCm39) I571S probably benign Het
Myh8 A G 11: 67,183,014 (GRCm39) N659D probably damaging Het
Naip2 A G 13: 100,320,296 (GRCm39) V240A probably benign Het
Nap1l1 T C 10: 111,321,370 (GRCm39) S37P probably benign Het
Nin T G 12: 70,097,915 (GRCm39) K515T probably damaging Het
Npl T A 1: 153,384,864 (GRCm39) K258* probably null Het
Ntn4 T A 10: 93,480,569 (GRCm39) S98T possibly damaging Het
Or10x1 T C 1: 174,197,152 (GRCm39) V223A probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5k14 C A 16: 58,693,269 (GRCm39) M81I probably benign Het
Ppox C A 1: 171,106,849 (GRCm39) A192S possibly damaging Het
Prkdc T C 16: 15,531,517 (GRCm39) L1380S probably benign Het
Psd4 C A 2: 24,295,363 (GRCm39) A839E probably damaging Het
Ptprn2 T G 12: 116,685,711 (GRCm39) F57V probably damaging Het
Ptprt C T 2: 162,120,030 (GRCm39) V146I probably benign Het
R3hdm2 T A 10: 127,334,322 (GRCm39) M915K probably damaging Het
Rab26 C T 17: 24,749,759 (GRCm39) probably null Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Rprd2 T C 3: 95,681,673 (GRCm39) K407E probably damaging Het
Siah3 G A 14: 75,693,574 (GRCm39) V27I possibly damaging Het
Slc14a2 T A 18: 78,235,338 (GRCm39) N280Y probably damaging Het
Slc25a35 A G 11: 68,862,786 (GRCm39) Y247C probably damaging Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Slc35d1 C T 4: 103,065,378 (GRCm39) V189I probably benign Het
Srrm1 G A 4: 135,067,884 (GRCm39) R322* probably null Het
Stac3 A T 10: 127,339,519 (GRCm39) R138S probably damaging Het
Tmem260 T A 14: 48,720,779 (GRCm39) C306* probably null Het
Tspyl1 A G 10: 34,159,085 (GRCm39) N270S probably damaging Het
Ugt2a2 T A 5: 87,622,720 (GRCm39) K293* probably null Het
Vmn2r102 A C 17: 19,899,025 (GRCm39) T456P probably benign Het
Vmn2r90 T A 17: 17,932,511 (GRCm39) S139R probably benign Het
Zmym2 A G 14: 57,180,715 (GRCm39) N876D probably benign Het
Other mutations in Chrnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03108:Chrnb2 APN 3 89,670,681 (GRCm39) splice site probably benign
IGL03117:Chrnb2 APN 3 89,670,552 (GRCm39) missense probably damaging 1.00
IGL03391:Chrnb2 APN 3 89,668,184 (GRCm39) missense probably damaging 0.98
R0131:Chrnb2 UTSW 3 89,671,713 (GRCm39) start codon destroyed probably null 0.01
R0131:Chrnb2 UTSW 3 89,671,713 (GRCm39) start codon destroyed probably null 0.01
R1726:Chrnb2 UTSW 3 89,668,509 (GRCm39) missense probably damaging 1.00
R2095:Chrnb2 UTSW 3 89,668,744 (GRCm39) missense probably benign 0.01
R2124:Chrnb2 UTSW 3 89,676,648 (GRCm39) unclassified probably benign
R3548:Chrnb2 UTSW 3 89,668,898 (GRCm39) missense probably benign 0.04
R4212:Chrnb2 UTSW 3 89,668,851 (GRCm39) missense probably damaging 1.00
R4902:Chrnb2 UTSW 3 89,668,248 (GRCm39) missense probably damaging 1.00
R6307:Chrnb2 UTSW 3 89,668,831 (GRCm39) missense probably damaging 1.00
R6751:Chrnb2 UTSW 3 89,668,883 (GRCm39) missense probably damaging 1.00
R6999:Chrnb2 UTSW 3 89,668,622 (GRCm39) missense possibly damaging 0.71
R7318:Chrnb2 UTSW 3 89,670,674 (GRCm39) critical splice acceptor site probably null
R7826:Chrnb2 UTSW 3 89,670,550 (GRCm39) missense probably damaging 1.00
R8025:Chrnb2 UTSW 3 89,668,649 (GRCm39) missense probably damaging 1.00
R8094:Chrnb2 UTSW 3 89,668,698 (GRCm39) missense probably damaging 1.00
R8143:Chrnb2 UTSW 3 89,654,630 (GRCm39) missense unknown
R8739:Chrnb2 UTSW 3 89,669,746 (GRCm39) missense probably damaging 1.00
R8809:Chrnb2 UTSW 3 89,664,457 (GRCm39) missense probably benign
R8969:Chrnb2 UTSW 3 89,664,532 (GRCm39) missense probably damaging 0.97
R9054:Chrnb2 UTSW 3 89,664,562 (GRCm39) missense probably damaging 1.00
R9204:Chrnb2 UTSW 3 89,668,128 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCAATGGTCAGGTTTCCACCTC -3'
(R):5'- TTGTGTTCCCTAGAAGAGCAGCCG -3'

Sequencing Primer
(F):5'- GGGTCTTCCTTCCAGATCAG -3'
(R):5'- CCGGGACCGGCAAGAAG -3'
Posted On 2013-04-11