Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Chrm2'

82865

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

039101-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36365019-36505349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36501401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 419 (N419K)

Ref Sequence

ENSEMBL: ENSMUSP00000130874 (fasta)

Gene Model

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

AlphaFold

Q9ERZ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172278
AA Change: N419K

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: N419K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	probably damaging	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
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
R6418:Chrm2	UTSW	6	36,500,674 (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'- AGAACTAGTGGGATCGTCAGGTCAG -3'
(R):5'- GCGCCTAAACGGACAGGGTTTATAC -3'

Sequencing Primer
(F):5'- GAACATTGTAGCCCGCAAAATTG -3'
(R):5'- AAACCCCTTAATTGCACGTTG -3'

Posted On

2013-11-08