Incidental Mutation 'IGL00950:Chrne'
ID28571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrne
Ensembl Gene ENSMUSG00000014609
Gene Namecholinergic receptor, nicotinic, epsilon polypeptide
SynonymsAChrepsilon, Acre
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL00950
Quality Score
Status
Chromosome11
Chromosomal Location70614883-70619216 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 70619157 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014753] [ENSMUST00000072237] [ENSMUST00000079244] [ENSMUST00000102556] [ENSMUST00000102559] [ENSMUST00000135865] [ENSMUST00000144960] [ENSMUST00000180052]
Predicted Effect unknown
Transcript: ENSMUST00000014753
AA Change: G7S
SMART Domains Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609
AA Change: G7S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 240 2.9e-65 PFAM
Pfam:Neur_chan_memb 247 475 6.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072237
SMART Domains Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
low complexity region 837 874 N/A INTRINSIC
CNH 1026 1324 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000079244
SMART Domains Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 314 338 N/A INTRINSIC
coiled coil region 348 493 N/A INTRINSIC
low complexity region 554 566 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
low complexity region 643 656 N/A INTRINSIC
low complexity region 716 735 N/A INTRINSIC
low complexity region 826 850 N/A INTRINSIC
CNH 1016 1314 1.58e-113 SMART
Predicted Effect unknown
Transcript: ENSMUST00000102556
AA Change: G7S
SMART Domains Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609
AA Change: G7S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 240 5.4e-65 PFAM
Pfam:Neur_chan_memb 247 474 2.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102559
SMART Domains Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 800 824 N/A INTRINSIC
CNH 990 1288 1.58e-113 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134836
Predicted Effect probably benign
Transcript: ENSMUST00000135865
SMART Domains Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 101 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135920
Predicted Effect probably benign
Transcript: ENSMUST00000136663
SMART Domains Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 140 2.3e-22 PFAM
Pfam:Pkinase 1 143 1.6e-30 PFAM
low complexity region 161 192 N/A INTRINSIC
coiled coil region 204 349 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
low complexity region 474 487 N/A INTRINSIC
low complexity region 500 513 N/A INTRINSIC
low complexity region 573 592 N/A INTRINSIC
low complexity region 691 728 N/A INTRINSIC
CNH 880 1178 1.58e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144960
SMART Domains Protein: ENSMUSP00000136077
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151599
Predicted Effect probably benign
Transcript: ENSMUST00000180052
SMART Domains Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the epsilon subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. In mice, deficiency of this gene can lead to a decline in the number of nicotinic acetylcholine receptors at neuromuscular junctions and causes progressive muscle weakness, atrophy and premature death. Mutations in this gene serve as a pathophysiological model for human congenital myasthenia. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced AChR receptor density at neuromuscular synapses, impaired neuromuscular transmission, progressive muscular weakness and atrophy, and lethality at 2-3 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 67,120,912 V923A possibly damaging Het
Als2 G A 1: 59,215,382 A272V probably benign Het
D430042O09Rik T A 7: 125,843,221 D767E probably benign Het
Dhx34 C T 7: 16,199,826 R947H probably damaging Het
Dnah7b A T 1: 46,214,322 M1796L probably benign Het
Doxl2 A C 6: 48,978,131 N635T possibly damaging Het
Dstyk C T 1: 132,459,988 T820I probably damaging Het
Eif4g1 A G 16: 20,683,628 K942E probably damaging Het
Fbn1 C T 2: 125,358,823 G1318E probably damaging Het
Galnt5 T C 2: 57,999,132 V248A probably benign Het
Gcnt4 A G 13: 96,946,556 Y120C probably damaging Het
Gdf5 A G 2: 155,941,706 V442A probably damaging Het
H2-Q4 A C 17: 35,382,858 D232A probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt A G 5: 34,891,441 I2423V probably benign Het
Itk T A 11: 46,367,896 I60F probably damaging Het
Izumo1 T A 7: 45,622,871 C25* probably null Het
Lamc1 G T 1: 153,240,495 P980H probably damaging Het
Ncor2 C A 5: 125,086,890 R367L unknown Het
Pcdhb17 A T 18: 37,486,006 probably null Het
Rnf123 C A 9: 108,067,395 probably null Het
Sh3bgrl2 T A 9: 83,577,490 F34I probably damaging Het
Sharpin T C 15: 76,348,224 E171G probably damaging Het
Slc22a30 A T 19: 8,335,788 D544E probably benign Het
Slc36a1 T C 11: 55,226,128 C328R probably damaging Het
Sntg2 T C 12: 30,312,681 probably benign Het
Sox13 A G 1: 133,387,106 V272A probably benign Het
Sppl2b T G 10: 80,864,094 L37R probably damaging Het
Strip1 T A 3: 107,621,445 S390C probably damaging Het
Stxbp5 T A 10: 9,808,602 probably benign Het
Supt16 T C 14: 52,161,798 E1008G possibly damaging Het
Vmn1r174 C A 7: 23,754,486 H192Q possibly damaging Het
Vsir C T 10: 60,364,284 Q154* probably null Het
Xrn2 A T 2: 147,028,146 R252* probably null Het
Other mutations in Chrne
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Chrne APN 11 70615762 missense probably benign 0.00
IGL01875:Chrne APN 11 70618672 splice site probably null
IGL03201:Chrne APN 11 70618512 missense probably benign 0.02
IGL03303:Chrne APN 11 70615100 missense possibly damaging 0.77
pip-squeak UTSW 11 70615130 critical splice acceptor site probably null
R0419:Chrne UTSW 11 70615723 missense probably benign
R0848:Chrne UTSW 11 70615413 missense probably benign 0.02
R1378:Chrne UTSW 11 70615130 critical splice acceptor site probably null
R1623:Chrne UTSW 11 70618428 missense possibly damaging 0.86
R2170:Chrne UTSW 11 70618497 missense probably damaging 1.00
R2437:Chrne UTSW 11 70615260 missense possibly damaging 0.92
R3945:Chrne UTSW 11 70617043 missense possibly damaging 0.95
R4612:Chrne UTSW 11 70617022 missense probably damaging 0.99
R4923:Chrne UTSW 11 70615275 missense possibly damaging 0.62
R5172:Chrne UTSW 11 70615526 missense probably benign 0.00
R5288:Chrne UTSW 11 70615087 missense possibly damaging 0.63
R5384:Chrne UTSW 11 70615087 missense possibly damaging 0.63
R5614:Chrne UTSW 11 70615053 missense possibly damaging 0.56
R7443:Chrne UTSW 11 70618266 missense probably benign 0.29
Posted On2013-04-17