Incidental Mutation 'IGL00509:Chrnb4'
ID4880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrnb4
Ensembl Gene ENSMUSG00000035200
Gene Namecholinergic receptor, nicotinic, beta polypeptide 4
SynonymsAcrb-4, Acrb4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL00509
Quality Score
Status
Chromosome9
Chromosomal Location55028154-55048779 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 55036594 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 80 (L80Q)
Ref Sequence ENSEMBL: ENSMUSP00000034854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034854]
Predicted Effect probably damaging
Transcript: ENSMUST00000034854
AA Change: L80Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: L80Q

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 26 231 3.2e-70 PFAM
Pfam:Neur_chan_memb 238 481 6.1e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217609
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in hyperplasia of the bladder and altered bladder contractility. Mutant mice also exhibit a resistance to nicotine-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,243,243 probably null Het
Abr A G 11: 76,423,089 L514P probably damaging Het
Ahnak T A 19: 9,009,951 D2866E possibly damaging Het
Bfsp1 T A 2: 143,831,892 T293S probably damaging Het
Ccr1 C T 9: 123,964,053 V147I probably benign Het
Cd84 T C 1: 171,852,137 probably null Het
Cep192 T C 18: 67,858,868 V1939A possibly damaging Het
Ckmt2 A T 13: 91,863,263 L76H probably damaging Het
Cntnap2 C T 6: 46,015,263 P375S possibly damaging Het
Cped1 A T 6: 22,215,523 L685F probably damaging Het
Dab2ip T C 2: 35,720,013 S682P probably damaging Het
Dclk1 A T 3: 55,247,286 T46S probably damaging Het
Eif2d T A 1: 131,166,352 C427S probably benign Het
Fat4 T A 3: 38,889,039 Y694N probably damaging Het
Gm15217 T C 14: 46,383,311 probably benign Het
Gpr35 T C 1: 92,982,872 I102T probably damaging Het
Grk4 T A 5: 34,716,290 N233K probably damaging Het
Hdac3 T C 18: 37,954,885 D10G possibly damaging Het
Hexb G A 13: 97,181,929 T308M probably damaging Het
Inpp5j C A 11: 3,501,595 D436Y possibly damaging Het
Kif18a A G 2: 109,317,988 E609G possibly damaging Het
Kif24 T C 4: 41,413,826 probably null Het
Lrp4 G A 2: 91,486,174 probably benign Het
Mat2b T C 11: 40,684,727 K161E possibly damaging Het
Nek2 T G 1: 191,827,378 probably benign Het
Numa1 A G 7: 102,013,286 T1965A possibly damaging Het
Oca2 G A 7: 56,280,846 G137D probably damaging Het
Pdcl2 T A 5: 76,325,112 D3V probably damaging Het
Ranbp17 T C 11: 33,493,402 N91S probably benign Het
Siglech A T 7: 55,768,887 D146V possibly damaging Het
Slc4a3 C T 1: 75,555,083 T898M probably damaging Het
Sp3 A G 2: 72,938,062 probably benign Het
Tln1 C T 4: 43,542,719 V1396I probably benign Het
Ugt2a3 T A 5: 87,325,655 M468L probably damaging Het
Other mutations in Chrnb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Chrnb4 APN 9 55035216 missense probably damaging 1.00
IGL03242:Chrnb4 APN 9 55035528 missense probably damaging 1.00
R0345:Chrnb4 UTSW 9 55035594 missense probably benign
R0735:Chrnb4 UTSW 9 55043800 missense probably damaging 0.96
R1843:Chrnb4 UTSW 9 55034818 missense possibly damaging 0.93
R1975:Chrnb4 UTSW 9 55034818 missense probably damaging 0.99
R2204:Chrnb4 UTSW 9 55043848 missense probably damaging 1.00
R2427:Chrnb4 UTSW 9 55034817 missense probably benign 0.00
R3876:Chrnb4 UTSW 9 55043898 missense probably damaging 1.00
R4934:Chrnb4 UTSW 9 55034817 missense probably benign 0.00
R5094:Chrnb4 UTSW 9 55035313 missense probably benign 0.00
R5507:Chrnb4 UTSW 9 55035012 missense probably damaging 1.00
R6370:Chrnb4 UTSW 9 55034859 missense probably benign 0.00
R7556:Chrnb4 UTSW 9 55035055 missense probably benign 0.19
R8399:Chrnb4 UTSW 9 55043823 missense probably benign 0.02
X0062:Chrnb4 UTSW 9 55034680 missense probably benign 0.05
Posted On2012-04-20