Incidental Mutation 'R2124:Chrnb2'
ID 229642
Institutional Source Beutler Lab
Gene Symbol Chrnb2
Ensembl Gene ENSMUSG00000027950
Gene Name cholinergic receptor nicotinic beta 2 subunit
Synonyms C030030P04Rik, Acrb2, [b]2-nAchR, Acrb-2
MMRRC Submission 040127-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R2124 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89660755-89671939 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 89676648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029562] [ENSMUST00000038356] [ENSMUST00000196726] [ENSMUST00000200558]
AlphaFold Q9ERK7
Predicted Effect probably benign
Transcript: ENSMUST00000029562
SMART Domains Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 29 234 5.6e-75 PFAM
Pfam:Neur_chan_memb 241 477 1.7e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038356
SMART Domains Protein: ENSMUSP00000037939
Gene: ENSMUSG00000042572

DomainStartEndE-ValueType
low complexity region 2 39 N/A INTRINSIC
Blast:RWD 43 156 1e-42 BLAST
low complexity region 183 202 N/A INTRINSIC
Blast:UBCc 203 243 8e-13 BLAST
UBCc 254 415 2.8e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000038450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195940
Predicted Effect probably benign
Transcript: ENSMUST00000196726
SMART Domains Protein: ENSMUSP00000143422
Gene: ENSMUSG00000042572

DomainStartEndE-ValueType
low complexity region 14 33 N/A INTRINSIC
Blast:UBCc 34 74 1e-13 BLAST
UBCc 85 246 2.8e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199427
Predicted Effect probably benign
Transcript: ENSMUST00000200558
SMART Domains Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Neur_chan_LBD 29 234 1.5e-71 PFAM
Pfam:Neur_chan_memb 241 454 4.8e-61 PFAM
low complexity region 657 666 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (80/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have impaired responses to nicotine, but show improved passive avoidance behavior. With age, mutants show more neurodegeneration and alterations of the visual system, with decreased cortical visual acuity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adgrg6 T C 10: 14,342,930 (GRCm39) D339G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap3 A C 18: 38,106,403 (GRCm39) L1480R probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Aspg G A 12: 112,087,608 (GRCm39) V8I probably benign Het
Aven T A 2: 112,455,541 (GRCm39) W26R probably damaging Het
Car4 T A 11: 84,854,911 (GRCm39) probably benign Het
Cd163 C T 6: 124,295,815 (GRCm39) R720C probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cdh3 A T 8: 107,279,520 (GRCm39) H712L probably damaging Het
Cdr2 T C 7: 120,581,250 (GRCm39) E9G probably damaging Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Col4a2 C A 8: 11,466,070 (GRCm39) P443Q probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Ddias T C 7: 92,507,464 (GRCm39) Q817R probably benign Het
Ddx6 C T 9: 44,535,816 (GRCm39) Q182* probably null Het
Dhrs7 A G 12: 72,699,951 (GRCm39) I227T probably damaging Het
Dhx8 A T 11: 101,653,071 (GRCm39) M970L probably damaging Het
Dnah7a A T 1: 53,536,101 (GRCm39) D2647E possibly damaging Het
Dstyk G A 1: 132,380,857 (GRCm39) G451R possibly damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Efl1 C T 7: 82,342,121 (GRCm39) R510C probably damaging Het
Eif4g3 A G 4: 137,912,053 (GRCm39) E1409G probably damaging Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fcgbp T C 7: 27,791,444 (GRCm39) Y902H probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gbp9 T A 5: 105,242,409 (GRCm39) D110V probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gm10542 T A 18: 44,334,355 (GRCm39) W9R probably null Het
Gpaa1 A G 15: 76,217,552 (GRCm39) Y330C probably damaging Het
Hectd4 T C 5: 121,456,702 (GRCm39) L689P probably damaging Het
Hoxd3 C A 2: 74,574,578 (GRCm39) P75T possibly damaging Het
Ikbkb A G 8: 23,156,036 (GRCm39) L570P probably damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Kidins220 G A 12: 25,091,302 (GRCm39) probably null Het
Kif1b T C 4: 149,306,753 (GRCm39) D869G probably benign Het
Loxl2 T C 14: 69,929,859 (GRCm39) Y746H probably benign Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Prkdc T C 16: 15,537,297 (GRCm39) V1716A probably benign Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Rims1 T A 1: 22,474,732 (GRCm39) R200* probably null Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Sall3 C T 18: 81,015,012 (GRCm39) G972D probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sdk1 C A 5: 142,170,943 (GRCm39) D1935E possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Syt16 T A 12: 74,285,009 (GRCm39) S401T probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tbcd A G 11: 121,494,146 (GRCm39) Y983C probably damaging Het
Tenm3 A G 8: 48,870,041 (GRCm39) probably null Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Top2a T C 11: 98,895,054 (GRCm39) I849V probably benign Het
Ttn A G 2: 76,624,792 (GRCm39) V13516A probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vmn2r84 A C 10: 130,227,100 (GRCm39) M246R probably damaging Het
Vps13b T A 15: 35,646,226 (GRCm39) N1443K probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp616 A G 11: 73,973,869 (GRCm39) probably null Het
Zmym1 T C 4: 126,943,363 (GRCm39) T244A probably benign Het
Other mutations in Chrnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03108:Chrnb2 APN 3 89,670,681 (GRCm39) splice site probably benign
IGL03117:Chrnb2 APN 3 89,670,552 (GRCm39) missense probably damaging 1.00
IGL03391:Chrnb2 APN 3 89,668,184 (GRCm39) missense probably damaging 0.98
R0131:Chrnb2 UTSW 3 89,671,713 (GRCm39) start codon destroyed probably null 0.01
R0131:Chrnb2 UTSW 3 89,671,713 (GRCm39) start codon destroyed probably null 0.01
R0132:Chrnb2 UTSW 3 89,671,713 (GRCm39) start codon destroyed probably null 0.01
R1726:Chrnb2 UTSW 3 89,668,509 (GRCm39) missense probably damaging 1.00
R2095:Chrnb2 UTSW 3 89,668,744 (GRCm39) missense probably benign 0.01
R3548:Chrnb2 UTSW 3 89,668,898 (GRCm39) missense probably benign 0.04
R4212:Chrnb2 UTSW 3 89,668,851 (GRCm39) missense probably damaging 1.00
R4902:Chrnb2 UTSW 3 89,668,248 (GRCm39) missense probably damaging 1.00
R6307:Chrnb2 UTSW 3 89,668,831 (GRCm39) missense probably damaging 1.00
R6751:Chrnb2 UTSW 3 89,668,883 (GRCm39) missense probably damaging 1.00
R6999:Chrnb2 UTSW 3 89,668,622 (GRCm39) missense possibly damaging 0.71
R7318:Chrnb2 UTSW 3 89,670,674 (GRCm39) critical splice acceptor site probably null
R7826:Chrnb2 UTSW 3 89,670,550 (GRCm39) missense probably damaging 1.00
R8025:Chrnb2 UTSW 3 89,668,649 (GRCm39) missense probably damaging 1.00
R8094:Chrnb2 UTSW 3 89,668,698 (GRCm39) missense probably damaging 1.00
R8143:Chrnb2 UTSW 3 89,654,630 (GRCm39) missense unknown
R8739:Chrnb2 UTSW 3 89,669,746 (GRCm39) missense probably damaging 1.00
R8809:Chrnb2 UTSW 3 89,664,457 (GRCm39) missense probably benign
R8969:Chrnb2 UTSW 3 89,664,532 (GRCm39) missense probably damaging 0.97
R9054:Chrnb2 UTSW 3 89,664,562 (GRCm39) missense probably damaging 1.00
R9204:Chrnb2 UTSW 3 89,668,128 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGGGCTGGGAGAAACCTTTG -3'
(R):5'- GTTGTTTTAACTTCTTAGCAGCCC -3'

Sequencing Primer
(F):5'- CTTTGAAGGGGCCGAGTGATTAAAC -3'
(R):5'- TGGAAATCTGCCCGAAAAGTTC -3'
Posted On 2014-09-17