Mutagenetix > Incidental Mutations

Incidental Mutation 'R4609:Pygm'

344558

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

MMRRC Submission

041820-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4609 (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 6391409 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 566 (V566D)

Ref Sequence

ENSEMBL: ENSMUSP00000047564 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035269
AA Change: V566D

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: V566D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113483
AA Change: V478D

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: V478D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142755

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,494,169	D91G	unknown	Het
Adam10	T	C	9: 70,740,143	Y42H	probably damaging	Het
Baiap3	A	T	17: 25,250,261	C183S	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Bmp1	C	T	14: 70,477,966	V910M	probably benign	Het
Brdt	G	A	5: 107,359,936	A677T	probably benign	Het
Cadps2	A	T	6: 23,587,579	M304K	probably damaging	Het
Car9	A	T	4: 43,507,267	D71V	possibly damaging	Het
Chml	A	T	1: 175,687,157	Y399*	probably null	Het
Clasp1	A	G	1: 118,503,035		probably benign	Het
Cntnap5b	G	A	1: 99,772,847		probably null	Het
Cpvl	A	T	6: 53,974,620		probably null	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
Cxcl16	T	C	11: 70,455,429	Y226C	probably damaging	Het
Dio3	G	T	12: 110,280,010	R260L	probably damaging	Het
Dmxl2	A	G	9: 54,446,512	L724P	probably damaging	Het
Dnah7a	A	C	1: 53,456,657	F3214V	possibly damaging	Het
Dpy19l4	A	T	4: 11,295,999	Y223*	probably null	Het
Dpysl4	T	C	7: 139,098,621	V499A	probably damaging	Het
Ets2	A	T	16: 95,711,774	K101N	probably benign	Het
Fam160a2	A	G	7: 105,388,224	I384T	probably damaging	Het
Fbn2	A	T	18: 58,190,269	Y200*	probably null	Het
Fem1c	A	T	18: 46,505,948	I329N	probably damaging	Het
Gm8919	T	C	3: 11,659,470		noncoding transcript	Het
H2-Q5	A	T	17: 35,397,080	H206L	probably benign	Het
Hexa	T	C	9: 59,557,319	F164S	probably benign	Het
Hk1	G	T	10: 62,358,415		probably benign	Het
Ick	T	A	9: 78,167,789		probably benign	Het
Itih4	G	A	14: 30,901,669	G915R	probably damaging	Het
Kcnq5	A	T	1: 21,405,068		probably null	Het
Krtap10-4	A	T	10: 77,826,796		probably benign	Het
Maml3	G	T	3: 51,855,592	H650Q	probably damaging	Het
Mief1	C	A	15: 80,248,253	P112Q	probably benign	Het
Morc3	A	G	16: 93,864,968	E472G	probably benign	Het
Nap1l1	T	A	10: 111,492,880	Y223*	probably null	Het
Nfix	A	T	8: 84,726,490	W312R	probably damaging	Het
Nfkbie	A	T	17: 45,558,584	N155I	probably damaging	Het
Nlgn2	A	T	11: 69,834,086	M118K	probably damaging	Het
Nlrp5	A	T	7: 23,417,748	Y299F	probably benign	Het
Nnt	T	C	13: 119,357,536	I556V	possibly damaging	Het
Oasl2	A	T	5: 114,899,796	I85F	possibly damaging	Het
Ogg1	A	C	6: 113,328,432	T69P	probably damaging	Het
Olfml2a	G	T	2: 38,957,721	V431L	probably damaging	Het
Olfr507	A	T	7: 108,622,504	M231L	probably benign	Het
Olfr984	T	C	9: 40,100,806	H228R	possibly damaging	Het
Palb2	G	T	7: 122,124,723	A601E	probably benign	Het
Pcdhb20	G	A	18: 37,505,796	M458I	probably benign	Het
Pde11a	T	C	2: 76,291,241	D332G	possibly damaging	Het
Pkd1l1	C	T	11: 8,958,964	E347K	unknown	Het
Pou2af1	G	A	9: 51,238,225	V206I	possibly damaging	Het
Prr16	A	G	18: 51,118,067	D46G	possibly damaging	Het
Pus1	A	G	5: 110,780,318	M1T	probably null	Het
Rb1	T	A	14: 73,262,514		probably benign	Het
Rhoj	A	T	12: 75,400,206	K200*	probably null	Het
Rnf213	A	G	11: 119,437,695	I1985V	possibly damaging	Het
Sept11	G	T	5: 93,162,254	M305I	possibly damaging	Het
Setdb2	T	C	14: 59,415,704	Y383C	probably damaging	Het
Sfpq	G	C	4: 127,021,611	Q65H	unknown	Het
Stard3nl	G	T	13: 19,370,264	A180E	probably damaging	Het
Tanc2	A	G	11: 105,910,240	N1094S	probably benign	Het
Trf	C	T	9: 103,211,985	A554T	possibly damaging	Het
Trmt13	T	C	3: 116,594,827		probably benign	Het
Tubb3	A	G	8: 123,420,919	D197G	probably damaging	Het
Ube2e3	A	G	2: 78,918,712	H135R	probably damaging	Het
Ugt1a10	A	T	1: 88,055,482	M1L	possibly damaging	Het
Vmn1r233	A	T	17: 20,994,415	I91N	possibly damaging	Het
Vmn2r88	A	T	14: 51,418,074	D580V	probably damaging	Het
Vps33b	A	G	7: 80,291,118	Y593C	probably benign	Het
Wdr19	A	G	5: 65,228,542	T622A	possibly damaging	Het
Wdr3	C	T	3: 100,140,200	R853Q	probably damaging	Het
Wdr61	A	G	9: 54,728,179	V46A	probably benign	Het
Xirp1	T	C	9: 120,016,506	T1104A	probably benign	Het
Yipf1	G	A	4: 107,344,683		probably null	Het
Zbtb17	A	G	4: 141,466,498	D651G	probably damaging	Het
Zbtb42	C	T	12: 112,680,542	R384W	probably damaging	Het
Zbtb43	A	T	2: 33,454,043	M390K	probably benign	Het
Zfp462	C	T	4: 55,011,889	T1285M	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ATGGTTAATAATGTCAGCCTTGGTG -3'
(R):5'- ACATCTTCTAAGGGTGGTCAC -3'

Sequencing Primer
(F):5'- GAAGCCGTTCATAGCATCTGC -3'
(R):5'- GTCACCAGCCCCCAGAAGATG -3'

Posted On

2015-09-25