Mutagenetix > Incidental Mutation

Incidental Mutation 'R7443:Chrne'

577107

Institutional Source

Beutler Lab

Gene Symbol

Chrne

Ensembl Gene

ENSMUSG00000014609

Gene Name

cholinergic receptor, nicotinic, epsilon polypeptide

Synonyms

AChrepsilon, Acre

MMRRC Submission

045519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70505709-70510042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70509092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 130 (V130A)

Ref Sequence

ENSEMBL: ENSMUSP00000099616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014753] [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102556] [ENSMUST00000102558] [ENSMUST00000102559] [ENSMUST00000135865] [ENSMUST00000144960] [ENSMUST00000180052]

AlphaFold

P20782

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014753
AA Change: V130A

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609
AA Change: V130A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000072873

SMART Domains

Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
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	829	853	N/A	INTRINSIC
CNH	1019	1317	1.58e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079244

SMART Domains

Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000102556
AA Change: V130A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609
AA Change: V130A

Domain	Start	End	E-Value	Type
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: ENSMUST00000102558

SMART Domains

Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
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	792	816	N/A	INTRINSIC
CNH	982	1280	1.58e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102559

SMART Domains

Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000135865

SMART Domains

Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	101	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136663

SMART Domains

Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180052

SMART Domains

Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,452,951 (GRCm39)	I162T	probably damaging	Het
Acaca	G	A	11: 84,206,619 (GRCm39)	S1493N	probably benign	Het
Arf2	T	A	11: 103,859,976 (GRCm39)	M18K	probably benign	Het
Bag5	A	G	12: 111,677,161 (GRCm39)	S221P	probably damaging	Het
Bcr	T	C	10: 74,978,968 (GRCm39)		probably null	Het
Btg2	T	A	1: 134,005,433 (GRCm39)	K51*	probably null	Het
Cracd	T	C	5: 77,004,485 (GRCm39)	V282A	unknown	Het
Cubn	T	A	2: 13,460,320 (GRCm39)	D714V	probably damaging	Het
Cyp4a29	A	T	4: 115,105,756 (GRCm39)	I153F	probably damaging	Het
Dph7	C	A	2: 24,852,505 (GRCm39)	H5Q	probably benign	Het
Epha6	T	C	16: 59,595,988 (GRCm39)	N901S	possibly damaging	Het
Exosc9	C	A	3: 36,607,990 (GRCm39)	P66Q	probably damaging	Het
Foxn3	T	C	12: 99,355,038 (GRCm39)	D42G	possibly damaging	Het
Gbp11	A	G	5: 105,478,816 (GRCm39)		probably null	Het
Gm3264	A	T	14: 16,058,304 (GRCm39)	Y37F	probably damaging	Het
H2-M10.2	T	A	17: 36,596,945 (GRCm39)	I44F	probably benign	Het
Hemgn	A	T	4: 46,396,145 (GRCm39)	F364I	probably damaging	Het
Hnf4a	A	G	2: 163,400,932 (GRCm39)	I184V	probably benign	Het
Ighe	G	T	12: 113,235,785 (GRCm39)	C180*	probably null	Het
Iigp1c	A	T	18: 60,379,122 (GRCm39)	N219I	probably benign	Het
Klk1b22	T	A	7: 43,765,534 (GRCm39)	I162K	probably benign	Het
Lmo3	C	T	6: 138,354,220 (GRCm39)	A104T	probably damaging	Het
Lsm14a	A	G	7: 34,053,263 (GRCm39)	V263A	probably benign	Het
Ltbp1	T	C	17: 75,671,432 (GRCm39)	Y1538H	probably damaging	Het
Ly6g6g	T	C	15: 74,647,249 (GRCm39)	E32G		Het
Map9	A	G	3: 82,278,663 (GRCm39)	E221G	possibly damaging	Het
Mccc2	G	A	13: 100,130,144 (GRCm39)	A71V	possibly damaging	Het
Mdc1	T	A	17: 36,161,712 (GRCm39)	V875E	probably damaging	Het
Mier2	A	T	10: 79,376,289 (GRCm39)	I212N	unknown	Het
Mitd1	T	C	1: 37,920,117 (GRCm39)	T164A	probably benign	Het
Myh1	T	C	11: 67,111,331 (GRCm39)	I1590T	probably benign	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,652 (GRCm39)	V118E	probably benign	Het
Nynrin	G	A	14: 56,108,873 (GRCm39)	V1327I	probably benign	Het
Oas1c	C	A	5: 120,943,484 (GRCm39)	K218N	probably damaging	Het
Or11g24	A	G	14: 50,662,507 (GRCm39)	D177G	probably damaging	Het
Or13a18	A	G	7: 140,190,961 (GRCm39)	N286S	probably damaging	Het
Or1e23	A	T	11: 73,407,674 (GRCm39)	V117D	possibly damaging	Het
Or4a80	T	A	2: 89,582,285 (GRCm39)	M296L	probably benign	Het
Or5g26	T	A	2: 85,493,912 (GRCm39)	I289F	probably damaging	Het
Or5h17	T	A	16: 58,820,353 (GRCm39)	F102I	probably damaging	Het
Otoa	A	T	7: 120,731,633 (GRCm39)	M618L	probably benign	Het
P3r3urf	G	A	4: 116,030,664 (GRCm39)	G23R	probably benign	Het
Plcg2	A	T	8: 118,231,028 (GRCm39)	T37S	probably benign	Het
Plekhg4	T	C	8: 106,107,499 (GRCm39)	L1010P	probably damaging	Het
Plxnb1	T	C	9: 108,943,675 (GRCm39)	F1921L	probably damaging	Het
Prss47	T	A	13: 65,197,303 (GRCm39)	K144N	probably damaging	Het
Rapgef2	T	C	3: 78,988,531 (GRCm39)	K953E	probably damaging	Het
Rasip1	T	A	7: 45,288,148 (GRCm39)	I909N	probably damaging	Het
Rps5	A	G	7: 12,656,922 (GRCm39)	T8A	probably benign	Het
Rsbn1l	T	C	5: 21,132,621 (GRCm39)	K213E	possibly damaging	Het
Serpinb5	T	C	1: 106,809,700 (GRCm39)	F369L	probably benign	Het
Slc4a5	T	C	6: 83,241,297 (GRCm39)	V306A	probably benign	Het
Sox13	T	C	1: 133,312,369 (GRCm39)	Y465C	probably damaging	Het
Sox13	C	A	1: 133,312,311 (GRCm39)	K484N	probably damaging	Het
Stx3	A	G	19: 11,769,208 (GRCm39)	I39T	possibly damaging	Het
Tbc1d5	T	C	17: 51,273,763 (GRCm39)	Y116C	probably damaging	Het
Tcp11l1	T	A	2: 104,514,480 (GRCm39)	Q429L	probably benign	Het
Tns3	G	A	11: 8,401,442 (GRCm39)	T952I	probably benign	Het
Trib3	T	C	2: 152,181,692 (GRCm39)	H176R	possibly damaging	Het
Trim12a	A	G	7: 103,950,049 (GRCm39)	Y297H	probably damaging	Het
Unc13a	A	G	8: 72,083,603 (GRCm39)	V1577A	probably damaging	Het
Vezf1	C	A	11: 87,965,489 (GRCm39)	P244T	probably damaging	Het
Vmn1r121	T	A	7: 20,831,945 (GRCm39)	D165V	probably damaging	Het
Vmn2r117	T	A	17: 23,679,107 (GRCm39)	I706F	probably benign	Het
Vmn2r117	C	T	17: 23,679,319 (GRCm39)	C635Y	probably damaging	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r87	A	T	10: 130,308,588 (GRCm39)	M550K	probably damaging	Het
Wdr6	A	G	9: 108,451,489 (GRCm39)	L798P	probably damaging	Het
Wtap	C	T	17: 13,199,821 (GRCm39)	G54D	probably benign	Het
Zfp827	A	G	8: 79,917,047 (GRCm39)	S541G		Het
Zkscan3	A	T	13: 21,572,608 (GRCm39)	Y341*	probably null	Het

Other mutations in Chrne

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Chrne	APN	11	70,506,588 (GRCm39)	missense	probably benign	0.00
IGL00950:Chrne	APN	11	70,509,983 (GRCm39)	unclassified	probably benign
IGL01875:Chrne	APN	11	70,509,498 (GRCm39)	splice site	probably null
IGL03201:Chrne	APN	11	70,509,338 (GRCm39)	missense	probably benign	0.02
IGL03303:Chrne	APN	11	70,505,926 (GRCm39)	missense	possibly damaging	0.77
pip-squeak	UTSW	11	70,505,956 (GRCm39)	critical splice acceptor site	probably null
R0419:Chrne	UTSW	11	70,506,549 (GRCm39)	missense	probably benign
R0848:Chrne	UTSW	11	70,506,239 (GRCm39)	missense	probably benign	0.02
R1378:Chrne	UTSW	11	70,505,956 (GRCm39)	critical splice acceptor site	probably null
R1623:Chrne	UTSW	11	70,509,254 (GRCm39)	missense	possibly damaging	0.86
R2170:Chrne	UTSW	11	70,509,323 (GRCm39)	missense	probably damaging	1.00
R2437:Chrne	UTSW	11	70,506,086 (GRCm39)	missense	possibly damaging	0.92
R3945:Chrne	UTSW	11	70,507,869 (GRCm39)	missense	possibly damaging	0.95
R4612:Chrne	UTSW	11	70,507,848 (GRCm39)	missense	probably damaging	0.99
R4923:Chrne	UTSW	11	70,506,101 (GRCm39)	missense	possibly damaging	0.62
R5172:Chrne	UTSW	11	70,506,352 (GRCm39)	missense	probably benign	0.00
R5288:Chrne	UTSW	11	70,505,913 (GRCm39)	missense	possibly damaging	0.63
R5384:Chrne	UTSW	11	70,505,913 (GRCm39)	missense	possibly damaging	0.63
R5614:Chrne	UTSW	11	70,505,879 (GRCm39)	missense	possibly damaging	0.56
R8733:Chrne	UTSW	11	70,507,856 (GRCm39)	missense	probably damaging	1.00
R9668:Chrne	UTSW	11	70,507,779 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTATCCCTCCTTAGCAGG -3'
(R):5'- CGATTTTGCAGGTGTAGGAATCC -3'

Sequencing Primer
(F):5'- TTAGCAGGCCCTGTCCC -3'
(R):5'- TCAGAACATGTATGGCTGCC -3'

Posted On

2019-10-07