Incidental Mutation 'IGL03242:Chrnb4'
ID414887
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 #IGL03242
Quality Score
Status
Chromosome9
Chromosomal Location55028154-55048779 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 55035528 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 154 (I154K)
Ref Sequence ENSEMBL: ENSMUSP00000034854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034854]
Predicted Effect probably damaging
Transcript: ENSMUST00000034854
AA Change: I154K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: I154K

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T C 6: 48,932,545 F575L possibly damaging Het
4930562C15Rik T C 16: 4,849,325 W221R unknown Het
Ank2 A G 3: 126,928,805 F1000L possibly damaging Het
Bahcc1 T C 11: 120,268,300 probably benign Het
BC024139 T C 15: 76,120,320 M679V probably benign Het
BC027072 A G 17: 71,750,271 S804P probably benign Het
Carmil2 A G 8: 105,691,320 probably benign Het
Catsperg2 A G 7: 29,725,479 probably benign Het
Clec2e A C 6: 129,095,026 L130W probably damaging Het
Coro2b G T 9: 62,428,961 Y281* probably null Het
Dlk2 A G 17: 46,302,977 Y386C probably benign Het
Dnah7a A T 1: 53,620,723 F709I probably benign Het
Exoc1 T C 5: 76,559,007 L467P probably damaging Het
Fkbp2 A G 19: 6,978,612 V75A probably benign Het
Glud1 T C 14: 34,334,280 F304L probably benign Het
Gm11639 A C 11: 105,106,404 E140A probably damaging Het
Gsr T A 8: 33,685,599 V291E probably benign Het
Kap A G 6: 133,851,800 probably benign Het
Kmt2a G T 9: 44,848,392 T720N probably damaging Het
Lrrtm4 T C 6: 80,022,088 I161T probably benign Het
Lyst T A 13: 13,656,881 L1630* probably null Het
Med13l A G 5: 118,747,445 S1488G probably benign Het
Mlxip A G 5: 123,440,061 K147E probably damaging Het
Nalcn T C 14: 123,321,487 E810G possibly damaging Het
Olfr474 T C 7: 107,955,481 V280A possibly damaging Het
Olfr683 G A 7: 105,144,266 S15F probably benign Het
Olfr710 A G 7: 106,944,918 F28L possibly damaging Het
Piezo2 T C 18: 63,011,538 probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Serpina3j G A 12: 104,319,701 A372T possibly damaging Het
Slc28a3 G A 13: 58,574,249 Q274* probably null Het
Ssfa2 C T 2: 79,643,471 R189* probably null Het
Stk36 T C 1: 74,623,352 F543S possibly damaging Het
Tfrc T C 16: 32,630,112 S690P probably damaging Het
Tg C A 15: 66,683,798 Q780K probably damaging Het
Top1 T A 2: 160,715,733 H578Q probably damaging Het
Treh A G 9: 44,685,337 T463A possibly damaging Het
Treml1 G A 17: 48,365,988 probably benign Het
Trpm2 A G 10: 77,917,734 V1312A probably benign Het
Ttc41 T A 10: 86,776,819 *1319K probably null Het
Tulp2 A G 7: 45,521,858 I354M probably damaging Het
Ugt2b35 T C 5: 87,007,395 L363P probably damaging Het
Usp13 A T 3: 32,902,069 M496L probably benign Het
Virma T C 4: 11,527,669 S1187P possibly damaging Het
Wdr76 T A 2: 121,542,470 C593S probably damaging Het
Zfp446 G A 7: 12,979,325 A97T probably damaging Het
Other mutations in Chrnb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Chrnb4 APN 9 55036594 missense probably damaging 1.00
IGL02207:Chrnb4 APN 9 55035216 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 On2016-08-02