Incidental Mutation 'R3971:Chrnb1'
ID 310983
Institutional Source Beutler Lab
Gene Symbol Chrnb1
Ensembl Gene ENSMUSG00000041189
Gene Name cholinergic receptor nicotinic beta 1 subunit
Synonyms Acrb, Achr-2, AChR beta
MMRRC Submission 040839-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R3971 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69674862-69686742 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 69683742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011285] [ENSMUST00000045971] [ENSMUST00000102585]
AlphaFold P09690
Predicted Effect probably benign
Transcript: ENSMUST00000011285
SMART Domains Protein: ENSMUSP00000011285
Gene: ENSMUSG00000042826

DomainStartEndE-ValueType
FGF 69 172 6.95e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000045971
SMART Domains Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 27 245 3.6e-65 PFAM
Pfam:Neur_chan_memb 252 487 3.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102585
SMART Domains Protein: ENSMUSP00000099645
Gene: ENSMUSG00000042826

DomainStartEndE-ValueType
FGF 69 200 3.43e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154816
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 95% (38/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele lack all tyrosine residues in the beta subunit intracellular loop, display reduced and simplified neuromuscular junctions, and show defective acetylcholine receptor clustering and anchoring at synapses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat C T 8: 60,971,615 (GRCm39) P147L probably damaging Het
Apbb1ip T A 2: 22,713,506 (GRCm39) D120E unknown Het
Atp10b A G 11: 43,107,339 (GRCm39) D791G probably damaging Het
Aunip A G 4: 134,250,780 (GRCm39) K242E possibly damaging Het
Ccdc80 A G 16: 44,916,183 (GRCm39) E313G probably benign Het
Cd72 C T 4: 43,449,491 (GRCm39) R275H probably damaging Het
Coro2b C T 9: 62,336,522 (GRCm39) A251T possibly damaging Het
Cspg4b A G 13: 113,453,660 (GRCm39) E41G probably damaging Het
Ddr2 A G 1: 169,815,986 (GRCm39) F574L probably damaging Het
Dock1 G A 7: 134,348,637 (GRCm39) D284N probably damaging Het
Dync1h1 A G 12: 110,632,399 (GRCm39) H4506R probably benign Het
Fam174b T C 7: 73,416,348 (GRCm39) V147A probably damaging Het
Glp2r T A 11: 67,637,641 (GRCm39) D130V possibly damaging Het
Gm18856 A T 13: 14,139,433 (GRCm39) probably benign Het
Gm7247 A G 14: 51,602,841 (GRCm39) Y59C probably damaging Het
Hecw1 T C 13: 14,411,514 (GRCm39) D1062G probably damaging Het
Ifit2 A G 19: 34,551,441 (GRCm39) E327G probably benign Het
Ighv1-37 A T 12: 114,860,079 (GRCm39) S43T probably damaging Het
Man2b1 A G 8: 85,812,020 (GRCm39) N158S probably damaging Het
Mcoln1 T A 8: 3,557,408 (GRCm39) I138K probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mrc2 G A 11: 105,218,857 (GRCm39) D193N possibly damaging Het
Myo5b C T 18: 74,873,598 (GRCm39) L1501F probably damaging Het
Nckap1l A G 15: 103,370,987 (GRCm39) K189E probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or6c69 T C 10: 129,747,742 (GRCm39) N135S probably benign Het
Otop1 A G 5: 38,457,533 (GRCm39) I431V probably benign Het
Psma8 A G 18: 14,890,444 (GRCm39) K195E possibly damaging Het
Rbm25 A G 12: 83,721,982 (GRCm39) T723A probably benign Het
Sema3b A G 9: 107,477,567 (GRCm39) S485P probably benign Het
Slc12a2 T A 18: 58,063,268 (GRCm39) L916Q possibly damaging Het
Spata31d1a T A 13: 59,849,971 (GRCm39) D719V possibly damaging Het
Synj1 A G 16: 90,788,491 (GRCm39) S86P probably damaging Het
Tmem130 T A 5: 144,692,131 (GRCm39) H91L probably benign Het
Tsc2 T C 17: 24,842,562 (GRCm39) D288G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vps35l T C 7: 118,433,022 (GRCm39) I585T probably damaging Het
Wac T C 18: 7,916,175 (GRCm39) V303A probably damaging Het
Zfhx2 A G 14: 55,311,932 (GRCm39) V254A probably benign Het
Zfp993 A G 4: 146,742,089 (GRCm39) T138A probably benign Het
Other mutations in Chrnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Chrnb1 APN 11 69,684,742 (GRCm39) missense probably damaging 1.00
IGL01924:Chrnb1 APN 11 69,685,845 (GRCm39) unclassified probably benign
IGL01983:Chrnb1 APN 11 69,686,555 (GRCm39) missense probably benign 0.27
IGL02100:Chrnb1 APN 11 69,684,281 (GRCm39) unclassified probably benign
IGL02507:Chrnb1 APN 11 69,675,916 (GRCm39) missense probably damaging 1.00
IGL02814:Chrnb1 APN 11 69,686,506 (GRCm39) missense probably damaging 1.00
IGL02858:Chrnb1 APN 11 69,675,935 (GRCm39) missense possibly damaging 0.58
R0368:Chrnb1 UTSW 11 69,675,583 (GRCm39) missense probably damaging 1.00
R1728:Chrnb1 UTSW 11 69,676,588 (GRCm39) missense probably damaging 1.00
R1913:Chrnb1 UTSW 11 69,684,410 (GRCm39) missense possibly damaging 0.95
R1930:Chrnb1 UTSW 11 69,683,563 (GRCm39) missense possibly damaging 0.81
R2233:Chrnb1 UTSW 11 69,686,428 (GRCm39) missense probably damaging 0.98
R2234:Chrnb1 UTSW 11 69,686,428 (GRCm39) missense probably damaging 0.98
R4183:Chrnb1 UTSW 11 69,677,922 (GRCm39) missense possibly damaging 0.50
R4425:Chrnb1 UTSW 11 69,677,773 (GRCm39) missense probably damaging 1.00
R4822:Chrnb1 UTSW 11 69,686,501 (GRCm39) missense possibly damaging 0.55
R4983:Chrnb1 UTSW 11 69,684,804 (GRCm39) missense probably damaging 1.00
R5000:Chrnb1 UTSW 11 69,677,858 (GRCm39) missense probably damaging 0.96
R5378:Chrnb1 UTSW 11 69,676,007 (GRCm39) missense probably benign 0.00
R5396:Chrnb1 UTSW 11 69,684,979 (GRCm39) missense probably damaging 1.00
R5540:Chrnb1 UTSW 11 69,686,476 (GRCm39) missense probably benign 0.30
R5574:Chrnb1 UTSW 11 69,684,509 (GRCm39) unclassified probably benign
R5890:Chrnb1 UTSW 11 69,683,555 (GRCm39) missense possibly damaging 0.94
R5973:Chrnb1 UTSW 11 69,686,671 (GRCm39) unclassified probably benign
R6056:Chrnb1 UTSW 11 69,677,765 (GRCm39) missense probably damaging 1.00
R7466:Chrnb1 UTSW 11 69,675,476 (GRCm39) missense probably damaging 1.00
R7633:Chrnb1 UTSW 11 69,683,699 (GRCm39) missense probably damaging 1.00
R7664:Chrnb1 UTSW 11 69,677,850 (GRCm39) missense possibly damaging 0.80
R8266:Chrnb1 UTSW 11 69,675,447 (GRCm39) makesense probably null
R9124:Chrnb1 UTSW 11 69,685,057 (GRCm39) missense probably benign 0.31
Z1177:Chrnb1 UTSW 11 69,685,015 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTACCTGCATCTGGTGGGAG -3'
(R):5'- GTCAGCAACTTGGGGATGATG -3'

Sequencing Primer
(F):5'- TGGCCAGGAGCGTGATG -3'
(R):5'- TGAATTCAGTCCCGGGAATC -3'
Posted On 2015-04-29