Mutagenetix > Incidental Mutation

Incidental Mutation 'R3907:Chrm4'

310231

Institutional Source

Beutler Lab

Gene Symbol

Chrm4

Ensembl Gene

ENSMUSG00000040495

Gene Name

cholinergic receptor, muscarinic 4

Synonyms

Chrm-4, muscarinic acetylcholine receptor 4

MMRRC Submission

040908-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91757594-91759033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91758084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 164 (A164V)

Ref Sequence

ENSEMBL: ENSMUSP00000040808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028672] [ENSMUST00000045537] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000111309]

AlphaFold

P32211

Predicted Effect

probably benign
Transcript: ENSMUST00000028672

SMART Domains

Protein: ENSMUSP00000028672
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045537
AA Change: A164V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040808
Gene: ENSMUSG00000040495
AA Change: A164V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	42	248	5.7e-7	PFAM
Pfam:7tm_1	48	453	5.5e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069423

SMART Domains

Protein: ENSMUSP00000068413
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090602

SMART Domains

Protein: ENSMUSP00000088090
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111309

SMART Domains

Protein: ENSMUSP00000106941
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Meta Mutation Damage Score

0.1847

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

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, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show decreased body weight, hyperactivity, abnormalities in carbamylcholine-induced bradycardia and gallbladder contractility, and altered CNS synaptic transmission. Mice homozygous for a different null allele show loss of the anti-cataleptic effect of scopolamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ampd3	A	G	7: 110,392,877 (GRCm39)	D215G	possibly damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Apba1	T	C	19: 23,914,870 (GRCm39)	I690T	probably damaging	Het
Arid1a	T	C	4: 133,420,223 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asns	C	T	6: 7,682,270 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Asph	T	C	4: 9,474,934 (GRCm39)	K680R	probably benign	Het
Atp2b4	A	T	1: 133,666,324 (GRCm39)	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Car4	G	A	11: 84,855,183 (GRCm39)	V141M	probably damaging	Het
Cct4	A	G	11: 22,951,560 (GRCm39)	I376V	probably benign	Het
Csf3r	A	T	4: 125,928,240 (GRCm39)	D291V	probably benign	Het
Dcaf6	A	T	1: 165,251,949 (GRCm39)	C58*	probably null	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Defb4	A	T	8: 19,251,277 (GRCm39)	Q48L	possibly damaging	Het
Dnaaf9	C	T	2: 130,578,496 (GRCm39)	A663T	probably damaging	Het
Duox2	C	T	2: 122,113,541 (GRCm39)		probably null	Het
E130308A19Rik	C	T	4: 59,752,393 (GRCm39)	T502I	probably benign	Het
Ephb1	A	G	9: 101,878,925 (GRCm39)	C522R	probably benign	Het
Fam76a	T	C	4: 132,643,432 (GRCm39)	K101E	probably damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Gm10110	T	C	14: 90,135,583 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,540,716 (GRCm39)		probably benign	Het
Hars1	A	T	18: 36,915,769 (GRCm39)	D48E	probably benign	Het
Hmgcll1	G	A	9: 75,979,943 (GRCm39)	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,217,538 (GRCm39)	S18P	probably damaging	Het
Iws1	G	A	18: 32,212,973 (GRCm39)	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Krt16	A	G	11: 100,137,989 (GRCm39)	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,496,464 (GRCm39)	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 130,984,651 (GRCm39)	S234T	probably damaging	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,133,071 (GRCm39)	D905E	possibly damaging	Het
Or4c117	A	C	2: 88,955,927 (GRCm39)	Y49*	probably null	Het
Or6z7	A	T	7: 6,483,678 (GRCm39)	V159D	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,282,431 (GRCm39)	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,410 (GRCm39)	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,173 (GRCm39)	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,702,239 (GRCm39)	D347G	possibly damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Rcan1	A	G	16: 92,262,917 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,002,557 (GRCm39)	L2004F	probably benign	Het
Rnf185	A	G	11: 3,376,681 (GRCm39)		probably benign	Het
Shank2	C	T	7: 143,963,313 (GRCm39)	P307L	probably damaging	Het
Slc19a3	G	A	1: 82,992,534 (GRCm39)	R396C	possibly damaging	Het
Stn1	T	C	19: 47,496,262 (GRCm39)	D321G	probably damaging	Het
Taar7a	T	C	10: 23,868,457 (GRCm39)	Y308C	probably benign	Het
Tespa1	T	C	10: 130,192,666 (GRCm39)		probably benign	Het
Tmcc2	T	C	1: 132,288,376 (GRCm39)	D359G	probably damaging	Het
Trhde	C	T	10: 114,636,601 (GRCm39)	G202E	possibly damaging	Het
Trip12	T	C	1: 84,709,827 (GRCm39)	T469A	possibly damaging	Het
Trip4	A	G	9: 65,740,708 (GRCm39)	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,653,983 (GRCm39)	I154T	probably damaging	Het
Ttn	C	A	2: 76,733,686 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Usp54	A	T	14: 20,636,181 (GRCm39)	S288T	probably damaging	Het
Utrn	C	T	10: 12,585,926 (GRCm39)		probably benign	Het

Other mutations in Chrm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:Chrm4	APN	2	91,758,176 (GRCm39)	missense	probably damaging	1.00
R0437:Chrm4	UTSW	2	91,758,788 (GRCm39)	missense	possibly damaging	0.89
R0755:Chrm4	UTSW	2	91,758,747 (GRCm39)	missense	probably benign	0.02
R1972:Chrm4	UTSW	2	91,757,838 (GRCm39)	missense	probably benign	0.00
R2233:Chrm4	UTSW	2	91,758,875 (GRCm39)	missense	probably benign	0.01
R2235:Chrm4	UTSW	2	91,758,875 (GRCm39)	missense	probably benign	0.01
R2902:Chrm4	UTSW	2	91,758,302 (GRCm39)	missense	probably benign	0.00
R3115:Chrm4	UTSW	2	91,757,705 (GRCm39)	missense	probably benign	0.06
R4839:Chrm4	UTSW	2	91,757,952 (GRCm39)	missense	probably damaging	1.00
R7033:Chrm4	UTSW	2	91,758,692 (GRCm39)	missense	probably benign	0.01
R7242:Chrm4	UTSW	2	91,757,595 (GRCm39)	start codon destroyed	probably null	0.86
R7707:Chrm4	UTSW	2	91,757,699 (GRCm39)	missense	probably benign	0.01
R8066:Chrm4	UTSW	2	91,758,042 (GRCm39)	missense	probably damaging	1.00
R8076:Chrm4	UTSW	2	91,758,204 (GRCm39)	missense	probably damaging	1.00
R8293:Chrm4	UTSW	2	91,758,563 (GRCm39)	missense	probably benign	0.00
R8784:Chrm4	UTSW	2	91,758,033 (GRCm39)	missense	probably benign	0.16
R9007:Chrm4	UTSW	2	91,758,075 (GRCm39)	missense	possibly damaging	0.68
R9113:Chrm4	UTSW	2	91,758,075 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TACATCATCAAGGGCTACTGGC -3'
(R):5'- GATGCTTGTGAACACGGCTG -3'

Sequencing Primer
(F):5'- CTGTGACCTGTGGCTGGC -3'
(R):5'- GGCCAGCGAGATATGAATA -3'

Posted On

2015-04-17