Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Chrm5'

38810

Institutional Source

Beutler Lab

Gene Symbol

Chrm5

Ensembl Gene

ENSMUSG00000074939

Gene Name

cholinergic receptor, muscarinic 5

Synonyms

M5R, muscarinic acetylcholine receptor 5

MMRRC Submission

038634-MU

Accession Numbers

Genbank: NM_205783; MGI: 109248

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112479171-112480769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112479655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 372 (K372M)

Ref Sequence

ENSEMBL: ENSMUSP00000097185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099589]

AlphaFold

Q920H4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099589
AA Change: K372M

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097185
Gene: ENSMUSG00000074939
AA Change: K372M

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	38	242	2.3e-8	PFAM
Pfam:7TM_GPCR_Srsx	41	253	7.5e-8	PFAM
Pfam:7tm_1	47	495	1.5e-79	PFAM
low complexity region	507	518	N/A	INTRINSIC

Meta Mutation Damage Score

0.0830

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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 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 clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit loss of acetylcholine-induced dilation of cerebral arteries, decreased pilocarpine-induced salivation, increased water-deprivation induced drinking, and attenuated morphine reinforcement and withdrawal. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(3)

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 35,895,816	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,736,919	C358S	probably damaging	Het
9330182L06Rik	G	T	5: 9,440,966	G659*	probably null	Het
Abca8b	C	A	11: 109,980,015	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,917,119		probably benign	Het
Ahctf1	A	C	1: 179,784,161	I548R	probably damaging	Het
Alox12b	G	T	11: 69,169,556	G646V	probably damaging	Het
Aoah	C	T	13: 20,911,198		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Atxn1l	A	G	8: 109,731,693	W646R	probably damaging	Het
Cabp2	T	C	19: 4,084,903	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,687,704	T719I	probably damaging	Het
Camk1d	A	T	2: 5,445,135	H70Q	probably damaging	Het
Car1	T	C	3: 14,770,176	T170A	probably benign	Het
Ccdc162	T	C	10: 41,541,860	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273	C18*	probably null	Het
Cdk17	A	T	10: 93,237,790		probably benign	Het
Chd9	T	A	8: 90,994,450		probably benign	Het
Clasp2	A	G	9: 113,909,419	T423A	probably benign	Het
Col11a1	A	G	3: 114,205,901		probably benign	Het
Col27a1	T	C	4: 63,225,611	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,484,935	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,857,950	K180*	probably null	Het
Dmxl2	T	C	9: 54,416,951	R876G	probably benign	Het
Dnmbp	A	T	19: 43,854,857	Y432*	probably null	Het
Eml2	C	T	7: 19,179,531	Q125*	probably null	Het
Faap100	A	C	11: 120,373,876		probably benign	Het
Foxp2	T	C	6: 15,254,279		probably benign	Het
Gda	A	G	19: 21,417,107	Y129H	probably damaging	Het
Gga3	G	A	11: 115,590,524	R207C	probably damaging	Het
Glg1	T	C	8: 111,182,569	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10322	A	T	10: 59,616,208	H49L	possibly damaging	Het
Golga5	G	T	12: 102,476,208	V269F	possibly damaging	Het
Gramd3	G	A	18: 56,474,069	C85Y	probably benign	Het
Grhl1	C	T	12: 24,582,919	P153L	probably benign	Het
Hdac9	T	C	12: 34,437,222	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,425,332	I414V	probably damaging	Het
Itpk1	C	T	12: 102,606,078		probably benign	Het
Itsn1	T	A	16: 91,815,520	Y266N	probably damaging	Het
Lipe	G	A	7: 25,398,488	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,257,067	E631G	probably damaging	Het
Lvrn	T	A	18: 46,905,299	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,135,597	H250Q	probably damaging	Het
Mup3	T	C	4: 62,085,282	T117A	probably benign	Het
Myo6	A	C	9: 80,273,974		probably benign	Het
Nbn	T	A	4: 15,983,951		probably benign	Het
Ncapg	T	A	5: 45,672,428	N157K	probably damaging	Het
Olfr1024	T	A	2: 85,904,157	N299I	probably damaging	Het
Olfr1137	G	A	2: 87,711,430	H159Y	probably benign	Het
Olfr1154	T	C	2: 87,902,960	T239A	probably damaging	Het
Olfr1178	C	T	2: 88,392,033	T262I	probably damaging	Het
Olfr1434	T	A	19: 12,283,903	M285K	probably damaging	Het
P4ha1	T	A	10: 59,348,257	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,499,535	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,854,400	I379F	probably damaging	Het
Psme3	T	A	11: 101,320,442	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,389,010		probably null	Het
Rabgap1l	A	C	1: 160,722,205	I277R	probably benign	Het
Rapgef1	C	T	2: 29,679,816	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,954,773	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,339,329	C38S	probably damaging	Het
Rptor	C	T	11: 119,780,553	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332	L208S	probably damaging	Het
Slc12a4	T	C	8: 105,959,488	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,653,419	V347F	probably benign	Het
Slit1	G	A	19: 41,743,293	T39I	probably damaging	Het
Sra1	T	C	18: 36,677,503	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,426,429	L215P	probably damaging	Het
Syne2	A	T	12: 75,949,064	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 50,866,823		probably benign	Het
Tgfbi	T	C	13: 56,632,191		probably benign	Het
Tmem232	T	C	17: 65,256,503	M632V	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,512,086	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,923,446		probably benign	Het
Tpsab1	A	G	17: 25,343,824		probably benign	Het
Usp34	T	A	11: 23,401,505	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,450,022	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,796,249	Y1052C	probably damaging	Het
Zan	A	T	5: 137,382,316		probably benign	Het
Zfp652	G	A	11: 95,763,739	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,212,659	T136A	possibly damaging	Het
Zfp82	C	T	7: 30,056,329	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,481,836	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,958,122	Y110C	probably benign	Het

Other mutations in Chrm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Chrm5	APN	2	112479232	missense	probably benign
IGL01611:Chrm5	APN	2	112480306	nonsense	probably null
IGL02152:Chrm5	APN	2	112480568	missense	probably damaging	1.00
IGL03002:Chrm5	APN	2	112480361	missense	probably damaging	1.00
C9142:Chrm5	UTSW	2	112480211	missense	probably damaging	1.00
R0200:Chrm5	UTSW	2	112480720	missense	probably benign
R1158:Chrm5	UTSW	2	112479869	missense	probably benign	0.00
R1611:Chrm5	UTSW	2	112479187	missense	possibly damaging	0.74
R1621:Chrm5	UTSW	2	112479837	missense	probably benign	0.00
R1693:Chrm5	UTSW	2	112479280	missense	probably damaging	1.00
R1988:Chrm5	UTSW	2	112480252	missense	probably damaging	0.99
R1989:Chrm5	UTSW	2	112480252	missense	probably damaging	0.99
R2071:Chrm5	UTSW	2	112479227	missense	probably null	0.93
R2890:Chrm5	UTSW	2	112479703	missense	probably benign	0.00
R4659:Chrm5	UTSW	2	112479757	missense	probably benign
R4785:Chrm5	UTSW	2	112479585	missense	probably benign	0.25
R5196:Chrm5	UTSW	2	112480384	missense	probably damaging	1.00
R5734:Chrm5	UTSW	2	112480100	missense	probably benign	0.28
R6343:Chrm5	UTSW	2	112479448	missense	probably damaging	1.00
R6499:Chrm5	UTSW	2	112480480	missense	probably benign
R6672:Chrm5	UTSW	2	112479796	missense	probably benign
R6905:Chrm5	UTSW	2	112479556	missense	probably benign	0.00
R7192:Chrm5	UTSW	2	112480327	missense	probably damaging	0.97
R7775:Chrm5	UTSW	2	112479956	missense	probably benign	0.07
R7778:Chrm5	UTSW	2	112479956	missense	probably benign	0.07
R8780:Chrm5	UTSW	2	112480108	missense	possibly damaging	0.64
R9287:Chrm5	UTSW	2	112479265	missense	probably damaging	1.00
R9436:Chrm5	UTSW	2	112479479	missense	possibly damaging	0.69
R9502:Chrm5	UTSW	2	112480695	missense	probably damaging	1.00
X0023:Chrm5	UTSW	2	112480481	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGACATAGCACAGCCAGTAACCC -3'
(R):5'- CCCTGTCTTTCAAGTGGTCTGCAAG -3'

Sequencing Primer
(F):5'- AATGGCGCTCAAGGTCTG -3'
(R):5'- CTTTCAAGTGGTCTGCAAGAATGAG -3'

Posted On

2013-05-23