Mutagenetix > Incidental Mutations

Incidental Mutation 'R7263:Pygm'

564782

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6384399-6398459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6388327 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 278 (R278H)

Ref Sequence

ENSEMBL: ENSMUSP00000047564 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035269
AA Change: R278H

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

SMART Domains

Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: R278H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113483
AA Change: R190H

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

SMART Domains

Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: R190H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

96% (67/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 122,054,194	H55N	probably damaging	Het
Acan	G	T	7: 79,092,318	V488L	probably damaging	Het
Adam12	T	C	7: 133,919,511	E638G	possibly damaging	Het
Adamts20	T	A	15: 94,322,891	Q1387L	possibly damaging	Het
Adamts3	G	T	5: 89,677,742	D1079E	probably benign	Het
Barx1	G	T	13: 48,665,079	G93C	probably damaging	Het
Carmil2	C	T	8: 105,693,045	R828C	probably damaging	Het
Catsper4	TTCTC	TTC	4: 134,227,112		probably null	Het
Ccdc159	T	C	9: 21,931,711	M148T	probably benign	Het
Cdk5rap1	T	A	2: 154,360,732	N193Y	probably benign	Het
Csnk1g2	G	A	10: 80,634,498	G15D	probably damaging	Het
Dach1	T	C	14: 98,168,859	S151G	probably benign	Het
Elf5	C	A	2: 103,439,300	N75K	probably benign	Het
Elp3	T	C	14: 65,565,333	D272G	probably damaging	Het
Epb41l1	T	A	2: 156,495,123		probably null	Het
Epha6	A	G	16: 59,775,665	Y888H	probably damaging	Het
Fibcd1	T	C	2: 31,817,210	Y345C	probably damaging	Het
Gjc1	C	T	11: 102,800,137	E347K	possibly damaging	Het
Gm16486	A	G	8: 70,710,776	N873D	possibly damaging	Het
Gse1	A	G	8: 120,574,171	D892G	unknown	Het
Gtpbp6	A	T	5: 110,104,049	I506N	probably benign	Het
Hivep1	T	A	13: 42,158,192	F1303I	possibly damaging	Het
Il21r	A	G	7: 125,632,905	T502A	probably benign	Het
Ints1	T	C	5: 139,764,079	T997A	possibly damaging	Het
Invs	C	A	4: 48,396,381	N351K	probably damaging	Het
Iqcm	A	G	8: 75,763,073	T390A	probably benign	Het
Kcnh4	C	T	11: 100,741,817	G948D	probably benign	Het
Kcnh7	T	A	2: 62,735,970		probably null	Het
Lrrc72	A	G	12: 36,208,612	V82A	probably damaging	Het
Macf1	A	T	4: 123,378,150	L6535Q	probably damaging	Het
Ncor2	G	C	5: 125,032,132	L585V		Het
Nipal2	G	C	15: 34,578,758	Y298*	probably null	Het
Nipsnap1	C	T	11: 4,882,960		probably benign	Het
Olfr1112	T	A	2: 87,192,132	C148*	probably null	Het
Olfr1267-ps1	T	C	2: 90,085,988	I158V	not run	Het
Olfr578	A	T	7: 102,984,317	Y282*	probably null	Het
Pcdhga4	C	T	18: 37,686,820	T474I	probably benign	Het
Pdp1	G	T	4: 11,960,821	Q516K	possibly damaging	Het
Pik3c2b	C	T	1: 133,090,202	P934L	probably damaging	Het
Pp2d1	A	G	17: 53,515,330	I236T	probably benign	Het
Rb1	A	T	14: 73,282,923	C215*	probably null	Het
Rgs22	A	G	15: 36,015,643	S1156P	possibly damaging	Het
Rgs9bp	T	C	7: 35,584,701	T174A	probably damaging	Het
Rnf133	A	T	6: 23,649,668	Y130*	probably null	Het
Sctr	G	A	1: 120,022,225	R48Q	probably benign	Het
Serpinb6e	A	T	13: 33,838,940	F153L	probably benign	Het
Slc22a1	A	T	17: 12,666,700	Y200N	probably damaging	Het
Slc22a22	C	A	15: 57,249,711	M377I	probably benign	Het
Slc36a4	A	G	9: 15,722,156		probably null	Het
Slc39a6	A	G	18: 24,601,203	V143A	probably benign	Het
Slf2	G	A	19: 44,938,424		probably null	Het
Sowaha	T	C	11: 53,479,658	K84E	probably benign	Het
Spef2	T	G	15: 9,653,012		probably null	Het
Sphkap	A	T	1: 83,276,678	F1117I	probably damaging	Het
Tas2r113	T	C	6: 132,893,576	I189T	possibly damaging	Het
Tescl	T	C	7: 24,333,822	E26G	possibly damaging	Het
Trpm6	A	T	19: 18,876,786	I1847F	probably damaging	Het
Uba1y	T	A	Y: 822,200	C178S	possibly damaging	Het
Ush2a	T	A	1: 188,443,329	V1208D	possibly damaging	Het
Usp13	G	C	3: 32,894,851	A446P	probably damaging	Het
Usp7	A	T	16: 8,696,724	C722S	possibly damaging	Het
Vmn1r52	A	G	6: 90,179,553	S280G	probably benign	Het
Vmn2r84	T	C	10: 130,389,208	K478E	probably damaging	Het
Zfp112	C	A	7: 24,125,527	L311I	probably benign	Het
Zfp180	G	T	7: 24,105,700	E515*	probably null	Het
Zfp518b	A	G	5: 38,672,328	I778T	probably damaging	Het
Zfp800	A	T	6: 28,243,663	H434Q	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
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
R7398:Pygm	UTSW	19	6385936	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGTCGTCAACACCATGCG -3'
(R):5'- CAGGAAATGTCATATCCCAGCC -3'

Sequencing Primer
(F):5'- GTCAACACCATGCGCCTCTG -3'
(R):5'- GAAATGTCATATCCCAGCCCCTCC -3'

Posted On

2019-06-26