Mutagenetix > Incidental Mutation

Incidental Mutation 'R6418:Chrm2'

518066

Institutional Source

Beutler Lab

Gene Symbol

Chrm2

Ensembl Gene

ENSMUSG00000045613

Gene Name

cholinergic receptor, muscarinic 2, cardiac

Synonyms

muscarinic acetylcholine receptor 2, M2, AChR M2, Chrm-2

MMRRC Submission

044560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36365019-36505349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 36500674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 177 (Y177S)

Ref Sequence

ENSEMBL: ENSMUSP00000130874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172278]

AlphaFold

Q9ERZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000172278
AA Change: Y177S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: Y177S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	40	440	2.5e-75	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930507D05Rik	C	T	10: 62,285,441 (GRCm39)	A55V	unknown	Het
Adra1b	T	G	11: 43,667,028 (GRCm39)	D403A	probably benign	Het
Ankdd1b	A	T	13: 96,597,405 (GRCm39)	L9Q	probably damaging	Het
Ankrd17	A	T	5: 90,426,204 (GRCm39)	S789R	possibly damaging	Het
B3galnt1	A	G	3: 69,482,326 (GRCm39)	S312P	probably damaging	Het
C4bp	C	T	1: 130,583,750 (GRCm39)	V73M	probably damaging	Het
Ccdc121rt2	T	C	5: 112,598,019 (GRCm39)	S189P	probably benign	Het
Cenpe	T	A	3: 134,957,305 (GRCm39)	N1854K	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Csad	A	G	15: 102,087,958 (GRCm39)	S322P	probably damaging	Het
Depdc1b	T	G	13: 108,493,956 (GRCm39)	Y115D	probably damaging	Het
Dnah17	T	C	11: 118,020,023 (GRCm39)	Y8C	probably damaging	Het
Dsg3	T	C	18: 20,656,817 (GRCm39)		probably null	Het
Elf5	A	G	2: 103,269,697 (GRCm39)	T93A	possibly damaging	Het
Eogt	C	T	6: 97,122,353 (GRCm39)	D27N	possibly damaging	Het
Fam118b	T	C	9: 35,146,633 (GRCm39)	D78G	probably damaging	Het
Fhip2a	T	A	19: 57,370,166 (GRCm39)	M470K	probably benign	Het
Frem3	A	G	8: 81,337,781 (GRCm39)	T25A	probably benign	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Golm1	T	C	13: 59,813,375 (GRCm39)	Y32C	probably damaging	Het
Has1	A	T	17: 18,070,207 (GRCm39)	V238E	probably damaging	Het
Hkdc1	T	C	10: 62,219,583 (GRCm39)	R907G	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Krtap24-1	C	T	16: 88,408,761 (GRCm39)	V122I	probably damaging	Het
Lrrc10	T	G	10: 116,881,616 (GRCm39)	L97V	probably damaging	Het
Map3k20	T	A	2: 72,232,457 (GRCm39)	M371K	probably benign	Het
Mis18bp1	A	T	12: 65,205,317 (GRCm39)	M2K	possibly damaging	Het
Mob3b	T	A	4: 34,954,049 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,570,607 (GRCm39)	T556A	possibly damaging	Het
Muc6	A	C	7: 141,224,032 (GRCm39)		probably benign	Het
Ncapg	A	T	5: 45,839,158 (GRCm39)	L519F	probably damaging	Het
Nfix	A	G	8: 85,453,778 (GRCm39)	S265P	probably benign	Het
Or13p10	T	A	4: 118,522,808 (GRCm39)	F31L	possibly damaging	Het
Or4c121	T	C	2: 89,023,823 (GRCm39)	K185R	probably damaging	Het
Or4k49	T	C	2: 111,494,817 (GRCm39)	V82A	probably benign	Het
Or52e5	T	C	7: 104,719,514 (GRCm39)	L280P	probably damaging	Het
Or8g35	C	A	9: 39,381,112 (GRCm39)	K303N	probably benign	Het
Osgin2	T	C	4: 16,006,410 (GRCm39)	T95A	probably benign	Het
Parp4	T	C	14: 56,858,108 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,879,046 (GRCm39)	G867D	probably damaging	Het
Pcdhb22	T	C	18: 37,652,959 (GRCm39)	S476P	possibly damaging	Het
Phldb1	A	G	9: 44,623,197 (GRCm39)	I619T	probably damaging	Het
Ppp1r13l	C	T	7: 19,105,256 (GRCm39)	R343C	probably damaging	Het
Rab2b	T	A	14: 52,506,164 (GRCm39)		probably benign	Het
Rims2	A	T	15: 39,373,092 (GRCm39)	E972V	probably damaging	Het
Slc26a9	G	T	1: 131,686,228 (GRCm39)	C337F	probably benign	Het
Spty2d1	A	G	7: 46,647,751 (GRCm39)	S393P	probably damaging	Het
Stkld1	A	T	2: 26,831,093 (GRCm39)	N90I	possibly damaging	Het
Svep1	T	A	4: 58,053,126 (GRCm39)	R3406S	probably benign	Het
Svil	A	T	18: 5,040,171 (GRCm39)	D48V	probably benign	Het
Thsd7a	T	A	6: 12,555,081 (GRCm39)	K268*	probably null	Het
Tmc6	A	G	11: 117,661,326 (GRCm39)	L618P	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Ube2q2l	C	A	6: 136,378,099 (GRCm39)	D244Y	probably damaging	Het
Ubn1	A	G	16: 4,899,791 (GRCm39)	H1101R	probably benign	Het
Upf2	G	A	2: 6,032,150 (GRCm39)	V899I	unknown	Het
Ush2a	A	T	1: 188,360,763 (GRCm39)	N2161I	probably damaging	Het
Usp25	A	T	16: 76,859,330 (GRCm39)	D276V	probably damaging	Het
Vmn2r68	T	A	7: 84,882,915 (GRCm39)	H279L	probably benign	Het
Vps13d	G	A	4: 144,818,850 (GRCm39)	R3019W	probably damaging	Het
Vsig10	A	T	5: 117,486,361 (GRCm39)	E423D	probably benign	Het
Wdfy2	T	A	14: 63,162,582 (GRCm39)	F95I	probably benign	Het
Xrn1	A	G	9: 95,915,763 (GRCm39)		probably null	Het
Zdhhc13	A	G	7: 48,461,149 (GRCm39)	T362A	possibly damaging	Het
Zfp984	C	T	4: 147,845,703 (GRCm39)	S2N	probably benign	Het

Other mutations in Chrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Chrm2	APN	6	36,500,326 (GRCm39)	missense	probably damaging	1.00
IGL00495:Chrm2	APN	6	36,500,355 (GRCm39)	missense	possibly damaging	0.61
IGL01011:Chrm2	APN	6	36,501,373 (GRCm39)	missense	probably benign	0.41
IGL01482:Chrm2	APN	6	36,500,692 (GRCm39)	missense	possibly damaging	0.95
R0101:Chrm2	UTSW	6	36,501,430 (GRCm39)	missense	probably damaging	1.00
R0390:Chrm2	UTSW	6	36,501,046 (GRCm39)	missense	probably benign	0.06
R0539:Chrm2	UTSW	6	36,500,641 (GRCm39)	missense	possibly damaging	0.69
R0972:Chrm2	UTSW	6	36,501,401 (GRCm39)	missense	possibly damaging	0.56
R2106:Chrm2	UTSW	6	36,500,382 (GRCm39)	missense	probably damaging	1.00
R3552:Chrm2	UTSW	6	36,500,745 (GRCm39)	missense	probably damaging	1.00
R4431:Chrm2	UTSW	6	36,501,097 (GRCm39)	missense	probably benign
R4910:Chrm2	UTSW	6	36,501,168 (GRCm39)	missense	probably benign	0.19
R5358:Chrm2	UTSW	6	36,500,290 (GRCm39)	missense	probably damaging	1.00
R5846:Chrm2	UTSW	6	36,500,385 (GRCm39)	missense	probably damaging	0.98
R6108:Chrm2	UTSW	6	36,500,230 (GRCm39)	missense	probably damaging	1.00
R6628:Chrm2	UTSW	6	36,500,292 (GRCm39)	missense	probably damaging	1.00
R6677:Chrm2	UTSW	6	36,501,027 (GRCm39)	missense	probably damaging	0.99
R6716:Chrm2	UTSW	6	36,501,370 (GRCm39)	missense	probably damaging	1.00
R7658:Chrm2	UTSW	6	36,500,184 (GRCm39)	missense	probably benign	0.00
R8004:Chrm2	UTSW	6	36,500,221 (GRCm39)	missense	probably damaging	1.00
R8185:Chrm2	UTSW	6	36,500,824 (GRCm39)	missense	probably benign	0.00
R8277:Chrm2	UTSW	6	36,500,211 (GRCm39)	missense	probably benign	0.31
R8557:Chrm2	UTSW	6	36,501,010 (GRCm39)	missense	probably benign
R9395:Chrm2	UTSW	6	36,501,196 (GRCm39)	missense	possibly damaging	0.50
R9441:Chrm2	UTSW	6	36,500,955 (GRCm39)	missense	probably benign	0.04
Z1177:Chrm2	UTSW	6	36,501,542 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCAATGCCTCCGTTATG -3'
(R):5'- CTTCCTTGCACTAGACTCGG -3'

Sequencing Primer
(F):5'- AGCAATGCCTCCGTTATGAATCTTC -3'
(R):5'- TTGCACTAGACTCGGAGACAC -3'

Posted On

2018-05-24