Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Chrne'

344861

Institutional Source

Beutler Lab

Gene Symbol

Chrne

Ensembl Gene

ENSMUSG00000014609

Gene Name

cholinergic receptor, nicotinic, epsilon polypeptide

Synonyms

AChrepsilon, Acre

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70505709-70510042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70507848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 284 (T284A)

Ref Sequence

ENSEMBL: ENSMUSP00000099616 (fasta)

Gene Model

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

AlphaFold

P20782

Predicted Effect

probably damaging
Transcript: ENSMUST00000014753
AA Change: T284A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609
AA Change: T284A

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 damaging
Transcript: ENSMUST00000102556
AA Change: T284A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609
AA Change: T284A

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

noncoding transcript
Transcript: ENSMUST00000135920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134836

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Ak7	T	G	12: 105,727,772 (GRCm39)	L468R	probably damaging	Het
Akap12	A	G	10: 4,304,456 (GRCm39)	D422G	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gria2	T	C	3: 80,639,358 (GRCm39)	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,266,886 (GRCm39)	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,370,099 (GRCm39)	I844M	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Lyar	T	A	5: 38,382,053 (GRCm39)	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,265,359 (GRCm39)	Q530K	probably damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,656,445 (GRCm39)	E120K	possibly damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	probably damaging	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
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
R7443:Chrne	UTSW	11	70,509,092 (GRCm39)	missense	probably benign	0.29
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'- GATAATCCATCACTGTCCCAGTCC -3'
(R):5'- TAACATCATTGTGCCTTGCGTG -3'

Sequencing Primer
(F):5'- CCCTGTGTCCAAATAAAAGTCCAG -3'
(R):5'- GCCTTGCGTGCTCATTTCTGG -3'

Posted On

2015-09-25