Mutagenetix > Incidental Mutation

Incidental Mutation 'R3707:Chrng'

258732

Institutional Source

Beutler Lab

Gene Symbol

Chrng

Ensembl Gene

ENSMUSG00000026253

Gene Name

cholinergic receptor, nicotinic, gamma polypeptide

Synonyms

Acrg, Achr-3

MMRRC Submission

040700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87133533-87139365 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 87138333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 375 (Q375*)

Ref Sequence

ENSEMBL: ENSMUSP00000027470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027470] [ENSMUST00000050876] [ENSMUST00000076362] [ENSMUST00000113230] [ENSMUST00000113231] [ENSMUST00000113232] [ENSMUST00000113233] [ENSMUST00000113235] [ENSMUST00000188796] [ENSMUST00000123735] [ENSMUST00000186038] [ENSMUST00000185763]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027470
AA Change: Q375*

SMART Domains

Protein: ENSMUSP00000027470
Gene: ENSMUSG00000026253
AA Change: Q375*

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	26	241	7.9e-72	PFAM
Pfam:Neur_chan_memb	248	494	9.6e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050876

SMART Domains

Protein: ENSMUSP00000053403
Gene: ENSMUSG00000026254

Domain	Start	End	E-Value	Type
Pfam:IF4E	55	217	2.4e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076362

SMART Domains

Protein: ENSMUSP00000075699
Gene: ENSMUSG00000026254

Domain	Start	End	E-Value	Type
Pfam:IF4E	55	217	4.1e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113230

SMART Domains

Protein: ENSMUSP00000108856
Gene: ENSMUSG00000026254

Domain	Start	End	E-Value	Type
Pfam:IF4E	50	212	1.7e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113231

SMART Domains

Protein: ENSMUSP00000108857
Gene: ENSMUSG00000026254

Domain	Start	End	E-Value	Type
Pfam:IF4E	50	212	4.4e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113232

SMART Domains

Protein: ENSMUSP00000108858
Gene: ENSMUSG00000026254

Domain	Start	End	E-Value	Type
Pfam:IF4E	55	217	4e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113233

SMART Domains

Protein: ENSMUSP00000108859
Gene: ENSMUSG00000026254

Domain	Start	End	E-Value	Type
Pfam:IF4E	55	217	8.6e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189392

Predicted Effect

probably benign
Transcript: ENSMUST00000113235

SMART Domains

Protein: ENSMUSP00000108861
Gene: ENSMUSG00000026254

Domain	Start	End	E-Value	Type
Pfam:IF4E	55	217	1.8e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188796

SMART Domains

Protein: ENSMUSP00000140796
Gene: ENSMUSG00000026253

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	26	142	1.3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123735

SMART Domains

Protein: ENSMUSP00000137771
Gene: ENSMUSG00000026254

Domain	Start	End	E-Value	Type
Pfam:IF4E	50	128	1.8e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186038

SMART Domains

Protein: ENSMUSP00000141001
Gene: ENSMUSG00000026253

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
Pfam:Neur_chan_LBD	48	220	1e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185763

SMART Domains

Protein: ENSMUSP00000139600
Gene: ENSMUSG00000026253

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	20	72	1.4e-6	PFAM
Pfam:Neur_chan_LBD	117	255	1e-47	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

97% (37/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display perinatal and postnatal lethality, paradoxical breathing, abnormal skeletal muscle morphology, abnormal neuromuscular junction morphology and physiology, and are unable to suckle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Avpr1a	T	A	10: 122,285,014 (GRCm39)	F102Y	probably damaging	Het
Bcs1l	A	G	1: 74,629,264 (GRCm39)		probably benign	Het
Cplane1	T	C	15: 8,289,300 (GRCm39)	S2917P	unknown	Het
Cyp2d10	A	G	15: 82,287,217 (GRCm39)	F469L	possibly damaging	Het
Dennd6a	T	C	14: 26,313,546 (GRCm39)		probably benign	Het
Eef2k	C	A	7: 120,483,935 (GRCm39)	L224I	probably damaging	Het
Gm10033	G	C	8: 69,825,068 (GRCm39)		noncoding transcript	Het
Gm11545	T	C	11: 94,648,385 (GRCm39)		noncoding transcript	Het
Herpud1	T	A	8: 95,118,867 (GRCm39)	V207D	probably damaging	Het
Hmbox1	T	C	14: 65,134,285 (GRCm39)	Y105C	probably benign	Het
Ighv1-85	A	T	12: 115,963,836 (GRCm39)	W55R	probably damaging	Het
Lgr4	T	C	2: 109,801,099 (GRCm39)	L83P	probably damaging	Het
Lrch1	C	T	14: 75,095,437 (GRCm39)	M134I	probably damaging	Het
Macrod2	C	A	2: 141,652,549 (GRCm39)	T204K	probably damaging	Het
Mtg1	A	T	7: 139,729,717 (GRCm39)	K269M	probably damaging	Het
Nkain3	A	T	4: 20,484,920 (GRCm39)	F52L	possibly damaging	Het
Nr4a3	A	T	4: 48,056,699 (GRCm39)	Y417F	probably damaging	Het
Or12e10	T	C	2: 87,640,520 (GRCm39)	C119R	probably damaging	Het
Or6c8	T	A	10: 128,915,254 (GRCm39)	I193F	probably benign	Het
Pappa2	A	T	1: 158,662,488 (GRCm39)	Y1162*	probably null	Het
Pdhb	T	C	14: 8,170,409 (GRCm38)	N114S	probably damaging	Het
Pigc	T	A	1: 161,798,663 (GRCm39)	M215K	probably benign	Het
Pimreg	G	A	11: 71,937,158 (GRCm39)		probably benign	Het
Ppfia4	T	C	1: 134,237,398 (GRCm39)	E967G	probably damaging	Het
Resf1	C	T	6: 149,230,611 (GRCm39)	S1219L	probably damaging	Het
Rif1	T	A	2: 51,983,592 (GRCm39)	D578E	probably damaging	Het
Rrbp1	G	T	2: 143,795,197 (GRCm39)	A1269E	probably benign	Het
Rufy3	G	A	5: 88,790,891 (GRCm39)	A531T	probably benign	Het
Slc22a22	C	A	15: 57,114,369 (GRCm39)	L319F	probably damaging	Het
Tapbpl	A	G	6: 125,201,658 (GRCm39)		probably null	Het
Tdrd1	T	C	19: 56,854,425 (GRCm39)	S1124P	possibly damaging	Het
Top2a	T	C	11: 98,887,651 (GRCm39)	K1286E	probably benign	Het
Top2b	T	C	14: 16,388,447 (GRCm38)	V188A	probably damaging	Het
Vmn2r4	A	T	3: 64,296,895 (GRCm39)	I630N	probably damaging	Het
Vmn2r53	T	C	7: 12,315,981 (GRCm39)	T613A	possibly damaging	Het
Zbtb40	A	G	4: 136,726,879 (GRCm39)	Y486H	probably damaging	Het
Zfp715	T	C	7: 42,960,553 (GRCm39)	T13A	probably benign	Het
Zfx	A	G	X: 93,142,413 (GRCm39)	V36A	possibly damaging	Het

Other mutations in Chrng

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Chrng	APN	1	87,134,469 (GRCm39)	missense	probably damaging	0.99
IGL02947:Chrng	APN	1	87,137,606 (GRCm39)	splice site	probably null
IGL03014:Chrng	UTSW	1	87,138,759 (GRCm39)	critical splice donor site	probably null
R1051:Chrng	UTSW	1	87,136,785 (GRCm39)	missense	possibly damaging	0.70
R1346:Chrng	UTSW	1	87,135,985 (GRCm39)	missense	probably benign	0.09
R1368:Chrng	UTSW	1	87,133,575 (GRCm39)	missense	probably damaging	1.00
R1588:Chrng	UTSW	1	87,135,229 (GRCm39)	missense	probably damaging	1.00
R1703:Chrng	UTSW	1	87,138,628 (GRCm39)	missense	possibly damaging	0.63
R2852:Chrng	UTSW	1	87,134,428 (GRCm39)	missense	probably benign	0.01
R4780:Chrng	UTSW	1	87,135,246 (GRCm39)	missense	probably damaging	1.00
R5818:Chrng	UTSW	1	87,137,523 (GRCm39)	missense	probably benign	0.45
R5871:Chrng	UTSW	1	87,134,451 (GRCm39)	missense	possibly damaging	0.95
R6058:Chrng	UTSW	1	87,139,074 (GRCm39)	missense	probably damaging	1.00
R6136:Chrng	UTSW	1	87,137,523 (GRCm39)	missense	probably benign	0.45
R7086:Chrng	UTSW	1	87,138,735 (GRCm39)	missense	probably benign	0.06
R7229:Chrng	UTSW	1	87,137,166 (GRCm39)	missense	probably benign	0.27
R7261:Chrng	UTSW	1	87,134,962 (GRCm39)	splice site	probably null
R7572:Chrng	UTSW	1	87,136,836 (GRCm39)	missense	probably damaging	1.00
R7666:Chrng	UTSW	1	87,137,175 (GRCm39)	missense	probably benign	0.05
R8132:Chrng	UTSW	1	87,133,718 (GRCm39)	missense	unknown
R8865:Chrng	UTSW	1	87,135,219 (GRCm39)	missense	probably damaging	1.00
R8902:Chrng	UTSW	1	87,138,397 (GRCm39)	missense	possibly damaging	0.84
R9535:Chrng	UTSW	1	87,139,202 (GRCm39)	missense	probably benign	0.00
T0975:Chrng	UTSW	1	87,138,348 (GRCm39)	missense	probably benign	0.00
X0063:Chrng	UTSW	1	87,134,428 (GRCm39)	missense	probably benign	0.01
Z1177:Chrng	UTSW	1	87,134,020 (GRCm39)	missense	probably benign	0.10
Z1177:Chrng	UTSW	1	87,133,717 (GRCm39)	missense	unknown
Z1177:Chrng	UTSW	1	87,136,025 (GRCm39)	missense	probably damaging	0.99
Z1177:Chrng	UTSW	1	87,135,985 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACCTAGTCGCTTCCCCTAAAG -3'
(R):5'- TCCAACTTGAACAGTCTCCC -3'

Sequencing Primer
(F):5'- AAAGCACTGTCTTTGTCCCC -3'
(R):5'- TTGAACAGTCTCCCAGCACGTAG -3'

Posted On

2015-01-23