Incidental Mutation 'R2427:Chrnb4'
ID 250281
Institutional Source Beutler Lab
Gene Symbol Chrnb4
Ensembl Gene ENSMUSG00000035200
Gene Name cholinergic receptor, nicotinic, beta polypeptide 4
Synonyms Acrb-4, Acrb4
MMRRC Submission 040389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R2427 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 54935438-54956063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54942101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 391 (Y391C)
Ref Sequence ENSEMBL: ENSMUSP00000034854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034854]
AlphaFold Q8R493
Predicted Effect probably benign
Transcript: ENSMUST00000034854
AA Change: Y391C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: Y391C

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
Meta Mutation Damage Score 0.2581 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy1 A G 1: 92,798,529 (GRCm39) probably null Het
Atp2a1 T A 7: 126,045,755 (GRCm39) *995L probably null Het
Axin2 T A 11: 108,814,800 (GRCm39) N229K possibly damaging Het
Capn13 A T 17: 73,633,312 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,929,545 (GRCm39) I1202V probably benign Het
Cep295 A G 9: 15,245,534 (GRCm39) L974P probably damaging Het
Cers3 T C 7: 66,445,541 (GRCm39) Y321H probably benign Het
Ciao1 T C 2: 127,088,611 (GRCm39) H104R probably damaging Het
Cldn4 A T 5: 134,975,331 (GRCm39) V90E probably damaging Het
Crbn T C 6: 106,760,433 (GRCm39) E253G probably damaging Het
Ctns A G 11: 73,087,512 (GRCm39) W5R probably damaging Het
Eme1 G A 11: 94,541,801 (GRCm39) probably benign Het
Fat2 T A 11: 55,201,638 (GRCm39) T479S probably benign Het
Fbxw25 T C 9: 109,481,928 (GRCm39) N253D probably benign Het
Fer A G 17: 64,264,298 (GRCm39) I39V probably benign Het
Fmnl2 A G 2: 53,006,991 (GRCm39) M768V probably damaging Het
Frg1 T C 8: 41,867,903 (GRCm39) K24E probably damaging Het
I830077J02Rik G T 3: 105,835,320 (GRCm39) A19D probably damaging Het
Ighv1-20 C T 12: 114,687,692 (GRCm39) silent Het
Igsf9 A G 1: 172,318,306 (GRCm39) S149G probably damaging Het
Klra10 T A 6: 130,256,298 (GRCm39) I119F probably benign Het
Lrrc4b T A 7: 44,111,976 (GRCm39) I616N probably damaging Het
Lrrc71 T C 3: 87,653,309 (GRCm39) T64A probably benign Het
Ly9 A T 1: 171,434,800 (GRCm39) I31N probably damaging Het
Mef2a A G 7: 66,915,808 (GRCm39) S165P probably damaging Het
Nol4 T G 18: 22,983,755 (GRCm39) probably benign Het
Nt5el T C 13: 105,246,269 (GRCm39) F277L probably benign Het
Plxnd1 C T 6: 115,944,709 (GRCm39) probably null Het
Rab27b T C 18: 70,129,205 (GRCm39) T30A probably damaging Het
Rasa4 A G 5: 136,130,881 (GRCm39) D384G probably benign Het
Slx4 G A 16: 3,806,851 (GRCm39) L531F probably damaging Het
Tafa4 C T 6: 96,991,328 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,557 (GRCm39) probably null Het
Tpm2 T C 4: 43,523,306 (GRCm39) N17D probably damaging Het
Tyrp1 A G 4: 80,769,108 (GRCm39) T134A probably benign Het
Zfand6 T A 7: 84,283,498 (GRCm39) K35* probably null Het
Zfp648 G A 1: 154,080,819 (GRCm39) C326Y probably damaging Het
Other mutations in Chrnb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Chrnb4 APN 9 54,943,878 (GRCm39) missense probably damaging 1.00
IGL02207:Chrnb4 APN 9 54,942,500 (GRCm39) missense probably damaging 1.00
IGL03242:Chrnb4 APN 9 54,942,812 (GRCm39) missense probably damaging 1.00
R0345:Chrnb4 UTSW 9 54,942,878 (GRCm39) missense probably benign
R0735:Chrnb4 UTSW 9 54,951,084 (GRCm39) missense probably damaging 0.96
R1843:Chrnb4 UTSW 9 54,942,102 (GRCm39) missense possibly damaging 0.93
R1975:Chrnb4 UTSW 9 54,942,102 (GRCm39) missense probably damaging 0.99
R2204:Chrnb4 UTSW 9 54,951,132 (GRCm39) missense probably damaging 1.00
R3876:Chrnb4 UTSW 9 54,951,182 (GRCm39) missense probably damaging 1.00
R4934:Chrnb4 UTSW 9 54,942,101 (GRCm39) missense probably benign 0.00
R5094:Chrnb4 UTSW 9 54,942,597 (GRCm39) missense probably benign 0.00
R5507:Chrnb4 UTSW 9 54,942,296 (GRCm39) missense probably damaging 1.00
R6370:Chrnb4 UTSW 9 54,942,143 (GRCm39) missense probably benign 0.00
R7556:Chrnb4 UTSW 9 54,942,339 (GRCm39) missense probably benign 0.19
R8399:Chrnb4 UTSW 9 54,951,107 (GRCm39) missense probably benign 0.02
R9140:Chrnb4 UTSW 9 54,941,955 (GRCm39) missense
R9352:Chrnb4 UTSW 9 54,951,167 (GRCm39) missense probably benign 0.07
X0062:Chrnb4 UTSW 9 54,941,964 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGCGACTTACACTCTGATCTCG -3'
(R):5'- AATGTGCACCACCGTTCACC -3'

Sequencing Primer
(F):5'- GATCATCACTCTCCAAATGCTGTG -3'
(R):5'- ACCATGGCATCCTGGGTCAAG -3'
Posted On 2014-11-12