Mutagenetix > Incidental Mutation

Incidental Mutation 'R9535:Chrng'

719635

Institutional Source

Beutler Lab

Gene Symbol

Chrng

Ensembl Gene

ENSMUSG00000026253

Gene Name

cholinergic receptor, nicotinic, gamma polypeptide

Synonyms

Acrg, Achr-3

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9535 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87133533-87139365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87139202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 518 (P518S)

Ref Sequence

ENSEMBL: ENSMUSP00000027470 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027470
AA Change: P518S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000027470
Gene: ENSMUSG00000026253
AA Change: P518S

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

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: 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: 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

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: ENSMUST00000188796

SMART Domains

Protein: ENSMUSP00000140796
Gene: ENSMUSG00000026253

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	A	17: 65,141,326 (GRCm39)	R65S	unknown	Het
Abcc6	A	G	7: 45,626,687 (GRCm39)	S1457P	probably damaging	Het
Alad	T	C	4: 62,428,777 (GRCm39)	D259G	probably damaging	Het
Atmin	A	G	8: 117,683,327 (GRCm39)	D329G	probably damaging	Het
Ccdc121	A	G	5: 31,644,954 (GRCm39)	I236V	probably benign	Het
Cdkal1	A	G	13: 30,034,007 (GRCm39)	F29L	probably benign	Het
Cpa1	G	T	6: 30,641,847 (GRCm39)	D224Y	probably damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dennd5b	T	C	6: 148,895,365 (GRCm39)	I1222V	probably benign	Het
Dnm1	A	T	2: 32,202,344 (GRCm39)	S773T	probably benign	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Il18rap	T	A	1: 40,586,990 (GRCm39)	V424E	probably benign	Het
Kdm6b	C	A	11: 69,297,276 (GRCm39)	G359*	probably null	Het
Krt84	A	G	15: 101,438,016 (GRCm39)		probably null	Het
Lig4	C	A	8: 10,022,325 (GRCm39)	C485F	probably damaging	Het
Mpo	T	A	11: 87,690,794 (GRCm39)	W411R	probably damaging	Het
Mpv17l	A	G	16: 13,759,149 (GRCm39)	E8G	probably benign	Het
Mrps34	T	C	17: 25,114,451 (GRCm39)	Y104H	probably benign	Het
Muc15	T	A	2: 110,562,007 (GRCm39)	W148R	probably damaging	Het
Nrg1	T	C	8: 32,439,995 (GRCm39)	D134G	probably benign	Het
Prdm1	T	C	10: 44,317,608 (GRCm39)	Y405C	probably damaging	Het
Ptprb	T	C	10: 116,158,431 (GRCm39)	S501P	possibly damaging	Het
Pwp1	C	A	10: 85,723,958 (GRCm39)	S486R	possibly damaging	Het
Rtl1	T	C	12: 109,557,171 (GRCm39)	E1556G	probably damaging	Het
Rtl1	T	C	12: 109,561,698 (GRCm39)	Q47R	unknown	Het
Siglece	A	G	7: 43,307,055 (GRCm39)	F311L	probably benign	Het
Slc27a3	A	G	3: 90,293,618 (GRCm39)	L589P	probably damaging	Het
Spata31e2	A	C	1: 26,721,232 (GRCm39)	L1316*	probably null	Het
Synrg	T	A	11: 83,881,660 (GRCm39)	M332K	probably benign	Het
Tasor2	T	A	13: 3,623,559 (GRCm39)	R2130S	possibly damaging	Het
Tecta	T	A	9: 42,270,759 (GRCm39)	N1183I	probably damaging	Het
Tmed11	A	G	5: 108,926,915 (GRCm39)	I119T	possibly damaging	Het
Ttll3	C	T	6: 113,389,834 (GRCm39)	R740W	probably damaging	Het
Usp40	T	C	1: 87,935,161 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,418 (GRCm39)	H179Y	probably benign	Het
Wwtr1	T	C	3: 57,384,825 (GRCm39)	M298V	possibly damaging	Het
Xrcc4	T	A	13: 90,089,118 (GRCm39)	M280L	probably benign	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
R3707:Chrng	UTSW	1	87,138,333 (GRCm39)	nonsense	probably null
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
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'- CCCTGCCACACAATGTGTTG -3'
(R):5'- GAACTGCTCAAAGTCATGTGAC -3'

Sequencing Primer
(F):5'- ACACAATGTGTTGTTGCCCTCAG -3'
(R):5'- TGCTCAAAGTCATGTGACCATAC -3'

Posted On

2022-07-18