Mutagenetix > Incidental Mutation

Incidental Mutation 'R4924:Pygm'

378918

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

MMRRC Submission

042526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4924 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

6434438-6448494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6443754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 572 (A572T)

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: A660T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: A660T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113483
AA Change: A572T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: A572T

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: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,902,351 (GRCm39)	H625Y	probably damaging	Het
Adamts4	C	T	1: 171,086,643 (GRCm39)	R812W	probably damaging	Het
Ajuba	A	C	14: 54,809,056 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,344,503 (GRCm39)	V532D	probably damaging	Het
Arpc1b	G	A	5: 145,063,625 (GRCm39)	S295N	probably benign	Het
Baiap2	A	G	11: 119,887,850 (GRCm39)	S335G	probably damaging	Het
Brap	T	G	5: 121,803,318 (GRCm39)	N155K	probably damaging	Het
Btn1a1	A	G	13: 23,648,396 (GRCm39)		probably benign	Het
Ccl12	G	A	11: 81,993,475 (GRCm39)	V38I	probably benign	Het
Cemip	T	C	7: 83,602,146 (GRCm39)	Y881C	probably damaging	Het
Cep128	T	C	12: 90,989,174 (GRCm39)		silent	Het
Chd5	A	C	4: 152,450,886 (GRCm39)	D670A	possibly damaging	Het
Cmip	T	C	8: 117,983,994 (GRCm39)	Y52H	probably benign	Het
Dmtn	A	G	14: 70,855,399 (GRCm39)	I30T	probably benign	Het
Dscaml1	T	A	9: 45,656,487 (GRCm39)	M1609K	probably damaging	Het
Edar	C	A	10: 58,465,197 (GRCm39)	E55D	probably damaging	Het
Ehmt1	A	T	2: 24,729,734 (GRCm39)	I601N	probably damaging	Het
Fam120a	A	T	13: 49,055,572 (GRCm39)	N705K	probably benign	Het
Gm21718	G	T	14: 51,550,292 (GRCm39)		noncoding transcript	Het
Gnaz	A	G	10: 74,827,545 (GRCm39)	D99G	probably benign	Het
Helz	G	A	11: 107,493,165 (GRCm39)	G196D	probably damaging	Het
Hif1a	T	C	12: 73,986,331 (GRCm39)	S341P	probably damaging	Het
Hivep1	G	T	13: 42,311,792 (GRCm39)	S1344I	probably benign	Het
Hspa1l	T	A	17: 35,196,832 (GRCm39)	Y290*	probably null	Het
Ift81	A	G	5: 122,732,679 (GRCm39)	L285S	possibly damaging	Het
Inpp4b	T	A	8: 82,849,253 (GRCm39)	N891K	probably damaging	Het
Irx6	C	T	8: 93,404,981 (GRCm39)	T283M	probably benign	Het
Kdm5b	A	G	1: 134,559,089 (GRCm39)	K1538E	probably benign	Het
Kif13a	A	G	13: 47,083,075 (GRCm39)	V8A	probably damaging	Het
Krtap15-1	T	A	16: 88,626,036 (GRCm39)	N34K	probably damaging	Het
Lama2	T	G	10: 27,245,137 (GRCm39)	I215L	probably damaging	Het
Ldlrad3	C	T	2: 101,900,328 (GRCm39)	R58H	possibly damaging	Het
Lvrn	C	T	18: 47,027,792 (GRCm39)	P869L	probably damaging	Het
Myo1d	A	G	11: 80,565,504 (GRCm39)	F411S	probably damaging	Het
Myo5b	T	A	18: 74,828,455 (GRCm39)	H702Q	probably benign	Het
Nat8f4	G	T	6: 85,878,401 (GRCm39)	Q41K	probably benign	Het
Nckap5	C	A	1: 125,954,765 (GRCm39)	E596*	probably null	Het
Nek10	T	A	14: 14,846,594 (GRCm38)		probably null	Het
Notch3	T	C	17: 32,363,705 (GRCm39)	Y1145C	probably damaging	Het
Nr4a2	A	T	2: 57,002,035 (GRCm39)	H76Q	probably benign	Het
Nup98	T	C	7: 101,784,185 (GRCm39)	Q1049R	probably damaging	Het
Or4k48	A	T	2: 111,476,121 (GRCm39)	S74T	possibly damaging	Het
Or5k1b	T	A	16: 58,580,982 (GRCm39)	R186*	probably null	Het
Or8k33	A	T	2: 86,383,853 (GRCm39)	F205Y	probably damaging	Het
Pepd	T	C	7: 34,720,409 (GRCm39)	Y231H	probably benign	Het
Plagl1	G	T	10: 13,003,301 (GRCm39)	A190S	possibly damaging	Het
Plat	T	A	8: 23,268,269 (GRCm39)	I345N	probably damaging	Het
Pnmt	A	G	11: 98,278,286 (GRCm39)	E120G	probably damaging	Het
Prkrip1	C	A	5: 136,227,797 (GRCm39)		probably null	Het
Rbm4b	T	C	19: 4,807,400 (GRCm39)	F39L	probably damaging	Het
Rpe65	A	G	3: 159,328,268 (GRCm39)	H388R	probably benign	Het
Scn4a	G	T	11: 106,210,914 (GRCm39)	A1701E	possibly damaging	Het
Sdk2	C	A	11: 113,748,584 (GRCm39)	W616L	probably damaging	Het
Serpina3m	T	A	12: 104,357,729 (GRCm39)	S218T	probably benign	Het
Siglece	C	T	7: 43,309,297 (GRCm39)	R87H	probably damaging	Het
Sim1	C	A	10: 50,785,998 (GRCm39)	L284M	probably damaging	Het
Smok3c	G	T	5: 138,063,844 (GRCm39)	E444*	probably null	Het
Snx4	T	C	16: 33,115,100 (GRCm39)	V427A	probably benign	Het
Srp68	A	T	11: 116,151,684 (GRCm39)	V304E	probably damaging	Het
Stag1	A	T	9: 100,678,808 (GRCm39)	H243L	possibly damaging	Het
Stx6	T	C	1: 155,049,737 (GRCm39)	V14A	probably damaging	Het
Sv2b	T	A	7: 74,786,169 (GRCm39)	Y417F	probably benign	Het
Tas2r103	A	G	6: 133,013,161 (GRCm39)	Y302H	probably benign	Het
Thop1	T	C	10: 80,916,028 (GRCm39)	S404P	probably benign	Het
Trp53bp1	G	T	2: 121,051,701 (GRCm39)	C988*	probably null	Het
Tsbp1	C	T	17: 34,678,951 (GRCm39)	P221L	probably damaging	Het
Ube3c	A	G	5: 29,836,269 (GRCm39)	E630G	possibly damaging	Het
Usf3	T	C	16: 44,037,718 (GRCm39)	S733P	probably benign	Het
Vmn1r195	A	G	13: 22,463,189 (GRCm39)	T220A	probably benign	Het
Vmn1r201	A	T	13: 22,658,882 (GRCm39)	H32L	probably benign	Het
Wnt2	A	G	6: 18,023,239 (GRCm39)	C137R	probably damaging	Het
Ythdc2	T	C	18: 44,980,871 (GRCm39)	S489P	probably damaging	Het
Zfp248	A	G	6: 118,406,033 (GRCm39)	C418R	probably damaging	Het
Zfp946	T	G	17: 22,674,502 (GRCm39)	F419V	probably damaging	Het
Zfp994	C	T	17: 22,419,738 (GRCm39)	E404K	probably damaging	Het
Zfpm1	T	C	8: 123,061,347 (GRCm39)	V304A	possibly damaging	Het

Other mutations in Pygm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Pygm	APN	19	6,441,424 (GRCm39)	missense	probably benign
IGL01743:Pygm	APN	19	6,443,024 (GRCm39)	splice site	probably null
IGL01827:Pygm	APN	19	6,440,407 (GRCm39)	missense	probably damaging	1.00
IGL02032:Pygm	APN	19	6,438,117 (GRCm39)	missense	probably benign	0.23
IGL02261:Pygm	APN	19	6,438,301 (GRCm39)	missense	probably damaging	1.00
IGL02431:Pygm	APN	19	6,438,148 (GRCm39)	missense	probably damaging	1.00
IGL02511:Pygm	APN	19	6,435,718 (GRCm39)	missense	probably benign	0.22
IGL02967:Pygm	APN	19	6,443,868 (GRCm39)	missense	probably damaging	1.00
IGL03081:Pygm	APN	19	6,438,851 (GRCm39)	missense	possibly damaging	0.53
R0336:Pygm	UTSW	19	6,438,788 (GRCm39)	missense	probably damaging	1.00
R0415:Pygm	UTSW	19	6,441,396 (GRCm39)	missense	probably benign	0.06
R0799:Pygm	UTSW	19	6,436,048 (GRCm39)	intron	probably benign
R1445:Pygm	UTSW	19	6,439,917 (GRCm39)	missense	probably benign	0.20
R1752:Pygm	UTSW	19	6,441,064 (GRCm39)	missense	probably damaging	0.99
R1828:Pygm	UTSW	19	6,447,637 (GRCm39)	missense	possibly damaging	0.72
R2054:Pygm	UTSW	19	6,438,185 (GRCm39)	missense	probably benign	0.02
R2086:Pygm	UTSW	19	6,441,511 (GRCm39)	critical splice donor site	probably null
R2116:Pygm	UTSW	19	6,436,438 (GRCm39)	missense	probably damaging	0.98
R2431:Pygm	UTSW	19	6,443,815 (GRCm39)	missense	probably damaging	1.00
R2516:Pygm	UTSW	19	6,447,631 (GRCm39)	missense	probably benign	0.20
R3938:Pygm	UTSW	19	6,442,980 (GRCm39)	missense	probably benign	0.42
R4609:Pygm	UTSW	19	6,441,439 (GRCm39)	missense	possibly damaging	0.92
R4995:Pygm	UTSW	19	6,448,169 (GRCm39)	missense	probably damaging	1.00
R5225:Pygm	UTSW	19	6,439,494 (GRCm39)	missense	probably benign	0.01
R5296:Pygm	UTSW	19	6,434,609 (GRCm39)	missense	probably damaging	1.00
R5437:Pygm	UTSW	19	6,440,412 (GRCm39)	missense	probably damaging	1.00
R5994:Pygm	UTSW	19	6,448,073 (GRCm39)	critical splice acceptor site	probably null
R6030:Pygm	UTSW	19	6,438,842 (GRCm39)	missense	possibly damaging	0.78
R6030:Pygm	UTSW	19	6,438,842 (GRCm39)	missense	possibly damaging	0.78
R6188:Pygm	UTSW	19	6,447,967 (GRCm39)	splice site	probably null
R6266:Pygm	UTSW	19	6,448,169 (GRCm39)	missense	probably damaging	1.00
R6799:Pygm	UTSW	19	6,448,157 (GRCm39)	missense	probably damaging	1.00
R6855:Pygm	UTSW	19	6,443,787 (GRCm39)	missense	probably damaging	1.00
R6856:Pygm	UTSW	19	6,443,787 (GRCm39)	missense	probably damaging	1.00
R6857:Pygm	UTSW	19	6,443,787 (GRCm39)	missense	probably damaging	1.00
R7223:Pygm	UTSW	19	6,438,893 (GRCm39)	missense	probably benign
R7256:Pygm	UTSW	19	6,435,926 (GRCm39)	missense	probably benign	0.01
R7263:Pygm	UTSW	19	6,438,357 (GRCm39)	missense	probably damaging	1.00
R7398:Pygm	UTSW	19	6,435,966 (GRCm39)	missense	probably damaging	1.00
R8093:Pygm	UTSW	19	6,436,072 (GRCm39)	missense	probably damaging	1.00
R8351:Pygm	UTSW	19	6,438,117 (GRCm39)	missense	possibly damaging	0.83
R8499:Pygm	UTSW	19	6,440,392 (GRCm39)	missense	probably damaging	0.99
R8967:Pygm	UTSW	19	6,434,744 (GRCm39)	missense	probably damaging	1.00
R9331:Pygm	UTSW	19	6,448,129 (GRCm39)	missense	probably damaging	1.00
R9656:Pygm	UTSW	19	6,438,187 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACACCATGCATGTACAAGG -3'
(R):5'- GCCTCTTGACTGTGAGCCATTC -3'

Sequencing Primer
(F):5'- TCACACAGTGAGTTTAAGGCTAGCC -3'
(R):5'- GGTCCAGCCTTTCCACG -3'

Posted On

2016-04-15