Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Pygm'

428454

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6384399-6398459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6390382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 397 (N397K)

Ref Sequence

ENSEMBL: ENSMUSP00000109111 (fasta)

Gene Model

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

AlphaFold

Q9WUB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000035269
AA Change: N485K

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

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: N485K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113483
AA Change: N397K

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

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: N397K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142755

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	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
R2431:Pygm	UTSW	19	6393785	missense	probably damaging	1.00
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
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
R8967:Pygm	UTSW	19	6384714	missense	probably damaging	1.00
R9331:Pygm	UTSW	19	6398099	missense	probably damaging	1.00
R9656:Pygm	UTSW	19	6388157	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGATGACGCCCTCTTACAC -3'
(R):5'- TTGGGAACACAGTACAGGATTG -3'

Sequencing Primer
(F):5'- TGACGCCCTCTTACACACAGC -3'
(R):5'- ACACAGTACAGGATTGTAGTCC -3'

Posted On

2016-09-01