Incidental Mutation 'R4902:Chrnb2'
ID 377860
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 042505-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R4902 (G1)
Quality Score 205
Status Validated
Chromosome 3
Chromosomal Location 89660755-89671939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89668248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 356 (C356R)
Ref Sequence ENSEMBL: ENSMUSP00000143441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029562] [ENSMUST00000200558]
AlphaFold Q9ERK7
Predicted Effect probably benign
Transcript: ENSMUST00000029562
AA Change: C356R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: C356R

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 29 234 5.6e-75 PFAM
Pfam:Neur_chan_memb 241 477 1.7e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199372
Predicted Effect probably damaging
Transcript: ENSMUST00000200558
AA Change: C356R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: C356R

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
Meta Mutation Damage Score 0.1438 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (84/84)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,408 (GRCm39) noncoding transcript Het
Adamdec1 T C 14: 68,809,215 (GRCm39) N249S probably damaging Het
Asxl1 T A 2: 153,241,751 (GRCm39) V767E probably benign Het
Atp6v1f T C 6: 29,470,271 (GRCm39) probably benign Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
Cap2 T C 13: 46,684,501 (GRCm39) V2A probably damaging Het
Chtf8 C T 8: 107,612,424 (GRCm39) G172R probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dact2 T A 17: 14,416,991 (GRCm39) K403M possibly damaging Het
Dhx40 A C 11: 86,662,036 (GRCm39) L674V possibly damaging Het
Dlc1 A G 8: 37,044,285 (GRCm39) V1230A probably damaging Het
Dnah7b T A 1: 46,329,935 (GRCm39) S3260T probably benign Het
Eef1a2 T A 2: 180,789,881 (GRCm39) D428V probably benign Het
Ehd1 T C 19: 6,344,273 (GRCm39) F178L possibly damaging Het
Eif4a3l1 T G 6: 136,306,262 (GRCm39) V241G probably benign Het
F2 A T 2: 91,465,316 (GRCm39) probably benign Het
Fam186a T C 15: 99,844,723 (GRCm39) D507G unknown Het
Fbxo11 G A 17: 88,372,702 (GRCm39) probably benign Het
Fry A T 5: 150,419,168 (GRCm39) M2871L probably benign Het
Gabrr2 A G 4: 33,095,512 (GRCm39) D442G probably damaging Het
Gemin5 A G 11: 58,055,103 (GRCm39) I214T probably benign Het
Gfra2 A G 14: 71,204,455 (GRCm39) N175S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Jhy C T 9: 40,808,821 (GRCm39) probably benign Het
Krtap5-5 A T 7: 141,783,156 (GRCm39) C165S unknown Het
Lce1k T A 3: 92,714,134 (GRCm39) T17S unknown Het
Map3k1 C T 13: 111,909,146 (GRCm39) R268Q probably damaging Het
Med13l T A 5: 118,883,195 (GRCm39) H1351Q probably damaging Het
Met T C 6: 17,546,995 (GRCm39) V876A probably damaging Het
Mical2 T C 7: 111,936,107 (GRCm39) S903P probably benign Het
Mkks A G 2: 136,718,094 (GRCm39) V396A probably benign Het
Mvk T C 5: 114,594,060 (GRCm39) V305A probably benign Het
Myo5a A G 9: 75,081,360 (GRCm39) T982A probably benign Het
N4bp1 A G 8: 87,588,311 (GRCm39) V209A probably benign Het
Nfkbib G T 7: 28,461,173 (GRCm39) S158* probably null Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Ogfr A G 2: 180,235,518 (GRCm39) probably benign Het
Or10a3 G A 7: 108,480,624 (GRCm39) T63I probably benign Het
Or2t43 G A 11: 58,457,451 (GRCm39) S240F possibly damaging Het
Or8s8 T C 15: 98,354,796 (GRCm39) S202P probably damaging Het
Pcdhga8 T A 18: 37,948,978 (GRCm39) D131E probably damaging Het
Plch1 A G 3: 63,648,264 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ppp1r12a T C 10: 108,066,451 (GRCm39) V214A probably damaging Het
Prr5l A G 2: 101,628,027 (GRCm39) probably benign Het
Prss35 A G 9: 86,638,175 (GRCm39) Q315R probably damaging Het
Psg29 G T 7: 16,945,837 (GRCm39) *469L probably null Het
Psmd4 A G 3: 94,943,170 (GRCm39) V78A probably damaging Het
Rad9a C A 19: 4,251,552 (GRCm39) probably benign Het
Rfx7 G T 9: 72,524,573 (GRCm39) V588F probably benign Het
Rnase13 A C 14: 52,160,052 (GRCm39) I29S probably benign Het
Steap2 T C 5: 5,725,866 (GRCm39) N386S possibly damaging Het
Ston1 A G 17: 88,952,680 (GRCm39) E719G probably damaging Het
Stx4a A G 7: 127,441,934 (GRCm39) probably null Het
Tekt2 A G 4: 126,217,263 (GRCm39) S212P possibly damaging Het
Tex19.2 A T 11: 121,007,782 (GRCm39) L222Q probably damaging Het
Tmem50a A G 4: 134,637,017 (GRCm39) I38T probably damaging Het
Ubr2 A G 17: 47,296,922 (GRCm39) V286A possibly damaging Het
Ugt2b35 T C 5: 87,151,159 (GRCm39) M255T possibly damaging Het
Vmn2r17 T A 5: 109,601,220 (GRCm39) F839L probably benign Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wtip A T 7: 33,818,437 (GRCm39) probably null Het
Yeats2 G A 16: 20,026,418 (GRCm39) G765S probably benign Het
Zbtb3 T C 19: 8,781,331 (GRCm39) S315P probably benign Het
Zdhhc8 T C 16: 18,045,030 (GRCm39) M259V probably benign Het
Zfp120 A G 2: 149,961,440 (GRCm39) probably benign Het
Zfp236 A T 18: 82,627,543 (GRCm39) I1552N possibly damaging 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
R2124:Chrnb2 UTSW 3 89,676,648 (GRCm39) unclassified probably benign
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
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'- ATGAAGCGTACACCGTCCAC -3'
(R):5'- CTGGTGGGAAAGTACCTCATGTTC -3'

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