Incidental Mutation 'R4931:Chrnb3'
ID 380566
Institutional Source Beutler Lab
Gene Symbol Chrnb3
Ensembl Gene ENSMUSG00000031492
Gene Name cholinergic receptor, nicotinic, beta polypeptide 3
Synonyms Acrb3, 5730417K16Rik
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 27858739-27889758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27884258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 317 (S317P)
Ref Sequence ENSEMBL: ENSMUSP00000078428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060943] [ENSMUST00000079463] [ENSMUST00000211104]
AlphaFold Q8BMN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000060943
AA Change: S332P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492
AA Change: S332P

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 35 239 2.3e-75 PFAM
Pfam:Neur_chan_memb 246 452 1.9e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079463
AA Change: S317P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078428
Gene: ENSMUSG00000031492
AA Change: S317P

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 35 224 1.3e-57 PFAM
Pfam:Neur_chan_memb 231 374 4.3e-48 PFAM
Pfam:Neur_chan_memb 349 437 9.7e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211104
AA Change: S332P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.2642 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display hyperactivity and reflex abnormalities but were otherwise phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Chrnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Chrnb3 APN 8 27,875,129 (GRCm39) missense probably benign 0.13
IGL01655:Chrnb3 APN 8 27,884,202 (GRCm39) missense probably damaging 1.00
IGL02124:Chrnb3 APN 8 27,886,832 (GRCm39) unclassified probably benign
IGL02403:Chrnb3 APN 8 27,883,836 (GRCm39) missense probably damaging 1.00
IGL02474:Chrnb3 APN 8 27,883,397 (GRCm39) missense probably damaging 1.00
IGL02903:Chrnb3 APN 8 27,876,834 (GRCm39) missense probably damaging 0.96
R0178:Chrnb3 UTSW 8 27,883,392 (GRCm39) missense probably damaging 1.00
R0736:Chrnb3 UTSW 8 27,875,078 (GRCm39) missense probably benign 0.00
R1695:Chrnb3 UTSW 8 27,883,728 (GRCm39) missense probably damaging 1.00
R2051:Chrnb3 UTSW 8 27,876,839 (GRCm39) missense probably damaging 1.00
R2091:Chrnb3 UTSW 8 27,884,262 (GRCm39) missense probably damaging 1.00
R2313:Chrnb3 UTSW 8 27,883,809 (GRCm39) missense probably damaging 1.00
R3020:Chrnb3 UTSW 8 27,886,812 (GRCm39) missense probably benign
R3981:Chrnb3 UTSW 8 27,884,034 (GRCm39) missense probably damaging 1.00
R4236:Chrnb3 UTSW 8 27,884,021 (GRCm39) missense probably damaging 1.00
R4276:Chrnb3 UTSW 8 27,883,779 (GRCm39) missense probably damaging 1.00
R4422:Chrnb3 UTSW 8 27,886,761 (GRCm39) missense possibly damaging 0.84
R4515:Chrnb3 UTSW 8 27,875,118 (GRCm39) missense probably damaging 1.00
R4688:Chrnb3 UTSW 8 27,884,147 (GRCm39) missense probably damaging 1.00
R5164:Chrnb3 UTSW 8 27,884,160 (GRCm39) missense probably damaging 1.00
R6333:Chrnb3 UTSW 8 27,883,355 (GRCm39) missense probably damaging 0.96
R6454:Chrnb3 UTSW 8 27,883,403 (GRCm39) missense probably damaging 1.00
R7070:Chrnb3 UTSW 8 27,883,989 (GRCm39) missense probably damaging 1.00
R8060:Chrnb3 UTSW 8 27,884,588 (GRCm39) missense unknown
R8156:Chrnb3 UTSW 8 27,883,682 (GRCm39) missense probably benign 0.13
R8421:Chrnb3 UTSW 8 27,886,718 (GRCm39) missense probably damaging 1.00
R8884:Chrnb3 UTSW 8 27,883,946 (GRCm39) missense possibly damaging 0.90
R9244:Chrnb3 UTSW 8 27,884,594 (GRCm39) missense unknown
R9459:Chrnb3 UTSW 8 27,883,884 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCACGGTCCTGGTGTTCTAC -3'
(R):5'- CTCCATCACTGGTAGGAGTCTG -3'

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