Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Chrng'

586028

Institutional Source

Beutler Lab

Gene Symbol

Chrng

Ensembl Gene

ENSMUSG00000026253

Gene Name

cholinergic receptor, nicotinic, gamma polypeptide

Synonyms

Acrg, Achr-3

MMRRC Submission

045387-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7261 (G1)

Quality Score

122.008

Status

Validated

Chromosome

Chromosomal Location

87133533-87139365 bp(+) (GRCm39)

Type of Mutation

splice site (481 bp from exon)

DNA Base Change (assembly)

A to T at 87134962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027470] [ENSMUST00000185763] [ENSMUST00000186038] [ENSMUST00000188796]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027470

SMART Domains

Protein: ENSMUSP00000027470
Gene: ENSMUSG00000026253

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: 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 null
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: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,259,526 (GRCm39)	F1954L	probably damaging	Het
Acmsd	T	G	1: 127,687,561 (GRCm39)	I281R	probably damaging	Het
Adamts2	A	T	11: 50,677,424 (GRCm39)	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,978,326 (GRCm39)	T339I	probably benign	Het
Aff1	T	C	5: 103,976,245 (GRCm39)	S448P	probably damaging	Het
Agbl2	A	T	2: 90,619,288 (GRCm39)	S38C	possibly damaging	Het
Akap7	C	T	10: 25,147,416 (GRCm39)	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,885,177 (GRCm39)	F677L	probably benign	Het
Atf6b	G	T	17: 34,869,792 (GRCm39)	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,588,123 (GRCm39)	Y114C	probably damaging	Het
Casp7	T	A	19: 56,424,765 (GRCm39)	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cfap74	C	A	4: 155,549,831 (GRCm39)	P155T	unknown	Het
Champ1	A	G	8: 13,928,517 (GRCm39)	D225G	possibly damaging	Het
Cnksr1	T	C	4: 133,963,084 (GRCm39)		probably null	Het
Col15a1	G	A	4: 47,269,088 (GRCm39)	G582D	probably benign	Het
Cwc25	A	G	11: 97,648,585 (GRCm39)	V81A	possibly damaging	Het
Ddhd1	A	G	14: 45,894,688 (GRCm39)	Y261H	probably damaging	Het
Defa29	A	G	8: 21,816,818 (GRCm39)		probably null	Het
Diaph3	A	C	14: 87,202,893 (GRCm39)	C666G	probably benign	Het
Dlx2	A	G	2: 71,375,019 (GRCm39)	Y282H	probably damaging	Het
Dsc3	A	T	18: 20,113,814 (GRCm39)	Y369*	probably null	Het
Dtwd1	A	G	2: 126,000,424 (GRCm39)	N120S	probably benign	Het
Dysf	G	A	6: 84,169,992 (GRCm39)	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,444,416 (GRCm39)	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418 (GRCm39)	I12N	probably benign	Het
Fam171a2	T	A	11: 102,328,900 (GRCm39)	N620Y	probably damaging	Het
Garin4	T	C	1: 190,896,308 (GRCm39)	S112G	unknown	Het
Gfpt2	A	T	11: 49,714,078 (GRCm39)	E278D	possibly damaging	Het
Gm3285	A	G	10: 77,698,244 (GRCm39)	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,410,619 (GRCm39)	C23G	probably damaging	Het
Gtpbp4	A	T	13: 9,037,954 (GRCm39)	H228Q	probably benign	Het
Hdac7	A	G	15: 97,704,415 (GRCm39)	V500A	probably benign	Het
Hykk	T	G	9: 54,828,010 (GRCm39)	M83R	possibly damaging	Het
Idi1	A	G	13: 8,936,931 (GRCm39)	I101V	probably benign	Het
Irs2	A	T	8: 11,057,018 (GRCm39)	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Jak2	A	G	19: 29,288,385 (GRCm39)	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,282,255 (GRCm39)	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,423,370 (GRCm39)	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,838,175 (GRCm39)	S29*	probably null	Het
Lpcat3	T	A	6: 124,675,050 (GRCm39)	F57I	probably benign	Het
Manf	T	C	9: 106,769,088 (GRCm39)	T4A	probably benign	Het
Map2k3	G	A	11: 60,836,393 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,273,761 (GRCm39)	Q1329*	probably null	Het
Myocd	T	C	11: 65,078,422 (GRCm39)	S458G	probably damaging	Het
Ncor2	T	C	5: 125,187,143 (GRCm39)		probably null	Het
Ndufs8	A	T	19: 3,961,606 (GRCm39)	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,812,006 (GRCm39)	K32R	unknown	Het
Nlrp3	T	G	11: 59,439,272 (GRCm39)	V283G	possibly damaging	Het
Nme3	A	G	17: 25,116,037 (GRCm39)		probably null	Het
Or1o3	A	G	17: 37,574,076 (GRCm39)	F160L	probably benign	Het
Or8g23	C	T	9: 38,971,504 (GRCm39)	V153M	possibly damaging	Het
Parvg	T	C	15: 84,215,297 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,756,591 (GRCm39)	M389K	unknown	Het
Phf23	G	T	11: 69,890,091 (GRCm39)	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,611,860 (GRCm39)	Y929H	probably damaging	Het
Prss39	A	G	1: 34,539,369 (GRCm39)	D203G	probably damaging	Het
Prss54	G	T	8: 96,286,367 (GRCm39)	D235E	probably benign	Het
Prtg	T	A	9: 72,815,117 (GRCm39)	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,838,799 (GRCm39)	I160T	probably damaging	Het
Rxylt1	A	T	10: 121,924,822 (GRCm39)	D293E	probably benign	Het
Scn10a	C	A	9: 119,438,790 (GRCm39)	C1692F	probably damaging	Het
Scn11a	C	T	9: 119,648,899 (GRCm39)	D55N	probably damaging	Het
Secisbp2	G	T	13: 51,836,498 (GRCm39)	V768F	probably damaging	Het
Skic3	A	G	13: 76,261,698 (GRCm39)	T138A	probably benign	Het
Spag16	T	C	1: 70,338,780 (GRCm39)	I426T	possibly damaging	Het
Sspo	G	A	6: 48,427,011 (GRCm39)	V250M	possibly damaging	Het
Strbp	A	T	2: 37,531,149 (GRCm39)		probably null	Het
Sv2c	C	T	13: 96,224,809 (GRCm39)	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,577,794 (GRCm39)	S330L	not run	Het
Tigd2	T	A	6: 59,188,052 (GRCm39)	D306E	probably benign	Het
Trrap	C	T	5: 144,782,287 (GRCm39)	P3278S	possibly damaging	Het
Vdac1	A	T	11: 52,265,761 (GRCm39)	K28N	probably damaging	Het
Vmn1r84	A	T	7: 12,096,069 (GRCm39)	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,460,518 (GRCm39)	K615*	probably null	Het
Vps11	A	G	9: 44,265,800 (GRCm39)	L493P	probably damaging	Het
Zbtb21	T	C	16: 97,754,179 (GRCm39)	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,326,667 (GRCm39)	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,627,470 (GRCm39)	D1576E	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
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
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	87,135,985 (GRCm39)	missense	probably benign	0.09
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

Predicted Primers

PCR Primer
(F):5'- ATTCAGGGTCAGTCACTCCG -3'
(R):5'- AGTAGATACAACCGTCGGGG -3'

Sequencing Primer
(F):5'- CCGAAAGAGCTTAATAATGTTAGCC -3'
(R):5'- ATTGCAGTAGAGAGCCACCTCG -3'

Posted On

2019-10-21