Mutagenetix > Incidental Mutations

Incidental Mutation 'R2431:Pygm'

250422

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

MMRRC Submission

040392-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2431 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

6384399-6398459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6393785 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 592 (M592T)

Ref Sequence

ENSEMBL: ENSMUSP00000109111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000113483]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035269
AA Change: M680T

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

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: M680T

Domain	Start	End	E-Value	Type
Pfam:Phosphorylase	113	829	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113483
AA Change: M592T

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

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: M592T

Domain	Start	End	E-Value	Type
Pfam:Phosphorylase	62	742	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a glycolysis enzyme found in muscle. Highly similar enzymes encoded by different genes are found in liver and brain. The encoded protein is involved in regulating the breakdown of glycogen to glucose-1-phosphate, which is necessary for ATP generation. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	T	C	11: 97,452,404	V504A	probably benign	Het
Atr	T	G	9: 95,862,892	N87K	probably benign	Het
Auts2	A	T	5: 132,259,048	L32*	probably null	Het
Bptf	A	G	11: 107,047,240	V2675A	possibly damaging	Het
Brdt	C	T	5: 107,378,015		probably null	Het
Ccdc162	T	C	10: 41,569,845	K444E	probably benign	Het
Cnot1	T	C	8: 95,774,652	D96G	probably damaging	Het
Cpq	C	A	15: 33,594,119	Y425*	probably null	Het
Eri1	A	G	8: 35,476,478	Y221H	probably damaging	Het
Fbln2	A	G	6: 91,269,973	E1065G	probably damaging	Het
Focad	T	C	4: 88,331,027	V837A	unknown	Het
Ica1	G	A	6: 8,658,265	T284I	probably benign	Het
Isg15	C	T	4: 156,200,701		probably null	Het
Ltbp4	T	C	7: 27,319,676	T1073A	possibly damaging	Het
Mmp16	A	T	4: 18,054,491	R332S	probably benign	Het
Myg1	G	C	15: 102,337,736	G349R	probably damaging	Het
Olfr1444	T	C	19: 12,862,606	V277A	probably damaging	Het
Olfr447	T	C	6: 42,912,012	L163S	probably damaging	Het
Olfr703	T	C	7: 106,845,391	V260A	possibly damaging	Het
Olfr834	A	G	9: 18,988,003	N5S	probably damaging	Het
Piezo2	T	C	18: 63,245,624	H78R	possibly damaging	Het
Pkd1l1	T	C	11: 8,947,197	N121D	probably damaging	Het
Pkhd1	T	C	1: 20,201,165	T3055A	possibly damaging	Het
Ppp5c	C	T	7: 17,015,425	V160M	probably damaging	Het
Ptpn23	G	A	9: 110,386,279	R1438*	probably null	Het
Ptpro	G	A	6: 137,443,585	W183*	probably null	Het
Qdpr	A	G	5: 45,444,730	V68A	probably damaging	Het
Rfc5	A	C	5: 117,385,458	S92A	probably damaging	Het
Ripor3	T	C	2: 167,989,795	Q362R	probably benign	Het
Ror1	G	A	4: 100,441,155	C575Y	probably damaging	Het
Skint9	T	A	4: 112,389,267	D216V	probably damaging	Het
Sox6	T	C	7: 115,550,007		probably null	Het
Ugp2	A	T	11: 21,329,025	V387D	probably damaging	Het
Umodl1	T	C	17: 30,992,088	S747P	possibly damaging	Het
Vtcn1	A	T	3: 100,825,577	I7F	possibly damaging	Het
Zfp507	C	T	7: 35,795,402	R72H	probably benign	Het

Other mutations in Pygm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Pygm	APN	19	6391394	missense	probably benign
IGL01743:Pygm	APN	19	6392994	splice site	probably null
IGL01827:Pygm	APN	19	6390377	missense	probably damaging	1.00
IGL02032:Pygm	APN	19	6388087	missense	probably benign	0.23
IGL02261:Pygm	APN	19	6388271	missense	probably damaging	1.00
IGL02431:Pygm	APN	19	6388118	missense	probably damaging	1.00
IGL02511:Pygm	APN	19	6385688	missense	probably benign	0.22
IGL02967:Pygm	APN	19	6393838	missense	probably damaging	1.00
IGL03081:Pygm	APN	19	6388821	missense	possibly damaging	0.53
R0336:Pygm	UTSW	19	6388758	missense	probably damaging	1.00
R0415:Pygm	UTSW	19	6391366	missense	probably benign	0.06
R0799:Pygm	UTSW	19	6386018	intron	probably benign
R1445:Pygm	UTSW	19	6389887	missense	probably benign	0.20
R1752:Pygm	UTSW	19	6391034	missense	probably damaging	0.99
R1828:Pygm	UTSW	19	6397607	missense	possibly damaging	0.72
R2054:Pygm	UTSW	19	6388155	missense	probably benign	0.02
R2086:Pygm	UTSW	19	6391481	critical splice donor site	probably null
R2116:Pygm	UTSW	19	6386408	missense	probably damaging	0.98
R2516:Pygm	UTSW	19	6397601	missense	probably benign	0.20
R3938:Pygm	UTSW	19	6392950	missense	probably benign	0.42
R4609:Pygm	UTSW	19	6391409	missense	possibly damaging	0.92
R4924:Pygm	UTSW	19	6393724	missense	probably damaging	1.00
R4995:Pygm	UTSW	19	6398139	missense	probably damaging	1.00
R5225:Pygm	UTSW	19	6389464	missense	probably benign	0.01
R5296:Pygm	UTSW	19	6384579	missense	probably damaging	1.00
R5437:Pygm	UTSW	19	6390382	missense	probably damaging	1.00
R5994:Pygm	UTSW	19	6398043	critical splice acceptor site	probably null
R6030:Pygm	UTSW	19	6388812	missense	possibly damaging	0.78
R6030:Pygm	UTSW	19	6388812	missense	possibly damaging	0.78
R6188:Pygm	UTSW	19	6397937	splice site	probably null
R6266:Pygm	UTSW	19	6398139	missense	probably damaging	1.00
R6799:Pygm	UTSW	19	6398127	missense	probably damaging	1.00
R6855:Pygm	UTSW	19	6393757	missense	probably damaging	1.00
R6856:Pygm	UTSW	19	6393757	missense	probably damaging	1.00
R6857:Pygm	UTSW	19	6393757	missense	probably damaging	1.00
R7223:Pygm	UTSW	19	6388863	missense	probably benign
R7256:Pygm	UTSW	19	6385896	missense	probably benign	0.01
R7263:Pygm	UTSW	19	6388327	missense	probably damaging	1.00
R7398:Pygm	UTSW	19	6385936	missense	probably damaging	1.00
R8093:Pygm	UTSW	19	6386042	missense	probably damaging	1.00
R8351:Pygm	UTSW	19	6388087	missense	possibly damaging	0.83
R8499:Pygm	UTSW	19	6390362	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGGTTGGGATCTATGAAAGG -3'
(R):5'- TAAGATGTGACACAGGCCGG -3'

Sequencing Primer
(F):5'- TCTATGAAAGGCTGGGTTGAAG -3'
(R):5'- CAGCATGCCTCTTGACTGTGAG -3'

Posted On

2014-11-12