Incidental Mutation 'R4934:Chrnb4'
ID 380820
Institutional Source Beutler Lab
Gene Symbol Chrnb4
Ensembl Gene ENSMUSG00000035200
Gene Name cholinergic receptor, nicotinic, beta polypeptide 4
Synonyms Acrb-4, Acrb4
MMRRC Submission 042534-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R4934 (G1)
Quality Score 207
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: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 99% (134/135)
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: 125 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428L18Rik A T 1: 31,261,580 (GRCm39) probably benign Het
Acy1 T A 9: 106,312,321 (GRCm39) I14F probably null Het
Ago1 T C 4: 126,342,652 (GRCm39) D193G possibly damaging Het
Arhgap45 A T 10: 79,856,791 (GRCm39) H201L probably damaging Het
Armc9 G A 1: 86,140,801 (GRCm39) D63N probably damaging Het
Asb17 A T 3: 153,556,336 (GRCm39) I148F possibly damaging Het
Atf7ip2 A G 16: 10,059,447 (GRCm39) E329G possibly damaging Het
Atp2a1 T A 7: 126,052,600 (GRCm39) D373V probably benign Het
Cacna1e G T 1: 154,357,380 (GRCm39) Y603* probably null Het
Cbln4 G A 2: 171,880,901 (GRCm39) T131I probably damaging Het
Ccdc126 A G 6: 49,311,181 (GRCm39) E63G probably damaging Het
Ccl4 T A 11: 83,553,504 (GRCm39) S6T unknown Het
Ccnb1 A T 13: 100,918,209 (GRCm39) I146K possibly damaging Het
Ccr8 T A 9: 119,923,815 (GRCm39) M310K probably benign Het
Cd180 A T 13: 102,875,672 (GRCm39) probably null Het
Cd46 G C 1: 194,765,107 (GRCm39) probably benign Het
Cebpb A G 2: 167,531,005 (GRCm39) M22V probably benign Het
Cep152 A G 2: 125,453,016 (GRCm39) I352T possibly damaging Het
Cep295 T G 9: 15,244,456 (GRCm39) E1333D probably damaging Het
Ces4a A G 8: 105,864,613 (GRCm39) H30R probably benign Het
Chrm3 A G 13: 9,927,450 (GRCm39) Y529H probably damaging Het
Clca3a2 A G 3: 144,523,692 (GRCm39) Y98H probably damaging Het
Clvs1 C T 4: 9,424,216 (GRCm39) H221Y possibly damaging Het
Col3a1 G A 1: 45,379,112 (GRCm39) probably benign Het
Cpn2 T G 16: 30,079,344 (GRCm39) N119T probably damaging Het
Cspg4b C A 13: 113,504,882 (GRCm39) Q2004K probably damaging Het
Cubn T A 2: 13,494,721 (GRCm39) Q109H probably benign Het
Cyp26b1 A G 6: 84,553,954 (GRCm39) V221A possibly damaging Het
Cyp2e1 T G 7: 140,350,030 (GRCm39) N238K probably damaging Het
Dst C T 1: 34,247,669 (GRCm39) A1693V probably damaging Het
Dync2li1 A G 17: 84,956,683 (GRCm39) Q281R probably benign Het
Enpp2 C T 15: 54,745,543 (GRCm39) G318S probably damaging Het
Entrep1 T C 19: 23,950,789 (GRCm39) *597W probably null Het
F13a1 G T 13: 37,061,736 (GRCm39) P676T probably benign Het
Fam227a T C 15: 79,521,262 (GRCm39) H267R possibly damaging Het
Fam78a G A 2: 31,959,427 (GRCm39) R228C probably damaging Het
Fbxw25 T C 9: 109,480,705 (GRCm39) N325S possibly damaging Het
Foxred1 T C 9: 35,121,210 (GRCm39) probably benign Het
Fstl5 T A 3: 76,496,272 (GRCm39) V345E probably damaging Het
Fzd8 GAAAAACTCA GA 18: 9,214,492 (GRCm39) probably null Het
Hand1 T C 11: 57,722,078 (GRCm39) R179G possibly damaging Het
Hk1 G T 10: 62,194,165 (GRCm39) probably benign Het
Hmcn1 A C 1: 150,598,286 (GRCm39) L1672R probably damaging Het
Hps5 G A 7: 46,418,775 (GRCm39) Q297* probably null Het
Iars1 T A 13: 49,871,460 (GRCm39) F699I probably benign Het
Ift140 G A 17: 25,267,462 (GRCm39) G620E probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4a T G 1: 37,426,922 (GRCm39) Y628D possibly damaging Het
Itk C T 11: 46,280,152 (GRCm39) R29H probably damaging Het
Kcnv1 A G 15: 44,972,644 (GRCm39) F413S probably damaging Het
Klhl3 A T 13: 58,250,231 (GRCm39) Y4* probably null Het
Lonrf1 C A 8: 36,701,103 (GRCm39) C369F probably damaging Het
Magohb A T 6: 131,261,558 (GRCm39) probably benign Het
Map3k4 G A 17: 12,490,787 (GRCm39) R215C probably damaging Het
Map3k8 A T 18: 4,339,548 (GRCm39) S274R possibly damaging Het
Masp1 T G 16: 23,283,826 (GRCm39) M470L probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Muc4 A T 16: 32,576,472 (GRCm39) probably benign Het
Myo1c T A 11: 75,562,676 (GRCm39) V981E probably damaging Het
Nedd9 A T 13: 41,492,411 (GRCm39) I27K probably damaging Het
Nkd2 C A 13: 73,970,841 (GRCm39) G247V probably damaging Het
Nucb2 A C 7: 116,139,199 (GRCm39) Q398P possibly damaging Het
Numa1 T A 7: 101,660,064 (GRCm39) D376E probably benign Het
Or2w1 G A 13: 21,317,241 (GRCm39) V99I probably benign Het
Or4c101 C T 2: 88,389,930 (GRCm39) T39I probably benign Het
Or4n5 T C 14: 50,133,206 (GRCm39) T18A probably benign Het
Or4p23 A T 2: 88,576,398 (GRCm39) L278* probably null Het
Or4q3 C T 14: 50,583,345 (GRCm39) V185M probably damaging Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or6c76b A T 10: 129,692,896 (GRCm39) N170Y possibly damaging Het
Or8d23 A T 9: 38,842,129 (GRCm39) I221F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pamr1 C T 2: 102,472,549 (GRCm39) T616I probably benign Het
Pcnx1 G A 12: 82,038,599 (GRCm39) V1955I possibly damaging Het
Pira13 A G 7: 3,825,676 (GRCm39) Y398H probably damaging Het
Plekha3 T A 2: 76,510,571 (GRCm39) D35E possibly damaging Het
Pnpla2 T G 7: 141,038,085 (GRCm39) N184K probably damaging Het
Polr3a C T 14: 24,502,692 (GRCm39) E1216K probably benign Het
Ppp1r21 A T 17: 88,852,803 (GRCm39) S61C probably damaging Het
Ppp1r21 G C 17: 88,852,804 (GRCm39) S61T probably damaging Het
Prdm13 G T 4: 21,678,223 (GRCm39) probably benign Het
Prss53 T C 7: 127,487,879 (GRCm39) N201S probably benign Het
Rab11fip2 A G 19: 59,924,290 (GRCm39) L338S probably damaging Het
Rad50 T C 11: 53,575,102 (GRCm39) N546S probably benign Het
Ralgapa1 T C 12: 55,809,359 (GRCm39) D472G possibly damaging Het
Rexo4 A G 2: 26,850,346 (GRCm39) I277T probably damaging Het
Rimbp2 C T 5: 128,865,579 (GRCm39) V590I probably benign Het
Ripor3 A G 2: 167,824,736 (GRCm39) V864A probably benign Het
Rnpc3 G A 3: 113,418,628 (GRCm39) H107Y possibly damaging Het
Ryr1 A T 7: 28,767,520 (GRCm39) D2927E probably damaging Het
Samd9l G A 6: 3,375,621 (GRCm39) Q547* probably null Het
Scaper T C 9: 55,716,459 (GRCm39) E724G probably damaging Het
Secisbp2l C T 2: 125,582,409 (GRCm39) V1016I probably damaging Het
Selenoo T A 15: 88,982,970 (GRCm39) M499K probably damaging Het
Sema4a T A 3: 88,345,568 (GRCm39) D505V probably damaging Het
Sema5a T C 15: 32,679,310 (GRCm39) M863T probably damaging Het
Slc24a5 T C 2: 124,929,940 (GRCm39) C414R probably damaging Het
Slc34a2 A G 5: 53,224,942 (GRCm39) D361G probably damaging Het
Slc5a1 T C 5: 33,261,858 (GRCm39) Y20H probably benign Het
Slx4ip A T 2: 136,910,267 (GRCm39) probably benign Het
Snx14 T A 9: 88,280,341 (GRCm39) E538V probably damaging Het
Sspo C A 6: 48,442,486 (GRCm39) L1994I probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stap2 A G 17: 56,304,901 (GRCm39) S294P possibly damaging Het
Stat1 C A 1: 52,193,082 (GRCm39) Y651* probably null Het
Syne2 A G 12: 75,946,046 (GRCm39) T373A probably benign Het
Tacc2 A G 7: 130,330,318 (GRCm39) S201G probably damaging Het
Tdpoz3 G A 3: 93,734,287 (GRCm39) E321K probably benign Het
Thumpd1 T C 7: 119,316,002 (GRCm39) T316A probably benign Het
Tlr3 A T 8: 45,850,072 (GRCm39) C866S probably benign Het
Tmprss11g T A 5: 86,644,401 (GRCm39) I148F probably benign Het
Topbp1 T A 9: 103,205,568 (GRCm39) probably benign Het
Tpm1 T C 9: 66,935,331 (GRCm39) probably null Het
Traf3ip2 T A 10: 39,502,096 (GRCm39) S81R probably damaging Het
Trim29 T A 9: 43,222,265 (GRCm39) N31K probably benign Het
Ubn2 C T 6: 38,467,433 (GRCm39) P563S probably benign Het
Usp24 T C 4: 106,283,743 (GRCm39) Y2418H probably benign Het
Vmn2r6 T A 3: 64,463,766 (GRCm39) D267V probably damaging Het
Wapl T A 14: 34,414,052 (GRCm39) C305S probably benign Het
Yme1l1 C A 2: 23,058,333 (GRCm39) S155* probably null Het
Ythdf3 T A 3: 16,258,220 (GRCm39) H126Q probably damaging Het
Zbtb32 A T 7: 30,290,678 (GRCm39) C206S possibly damaging Het
Zbtb47 T C 9: 121,593,045 (GRCm39) V455A probably damaging Het
Zfp518a A T 19: 40,902,707 (GRCm39) I879F probably benign Het
Zfp938 A T 10: 82,062,012 (GRCm39) Y203N possibly 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
R2427:Chrnb4 UTSW 9 54,942,101 (GRCm39) missense probably benign 0.00
R3876:Chrnb4 UTSW 9 54,951,182 (GRCm39) missense probably damaging 1.00
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'- ACACTCTGATCTCGATCATCAC -3'
(R):5'- TGTCCTCAATGTGCACCACC -3'

Sequencing Primer
(F):5'- CTCTCCAAATGCTGTGCGATGAAG -3'
(R):5'- ACCATGGCATCCTGGGTCAAG -3'
Posted On 2016-04-15