Mutagenetix > Incidental Mutation

Incidental Mutation 'R7263:Pygm'

564782

Institutional Source

Beutler Lab

Gene Symbol

Pygm

Ensembl Gene

ENSMUSG00000032648

Gene Name

muscle glycogen phosphorylase

Synonyms

MMRRC Submission

045388-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6434438-6448494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6438357 bp (GRCm39)

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]

AlphaFold

Q9WUB3

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: 121,847,843 (GRCm39)	H55N	probably damaging	Het
Acan	G	T	7: 78,742,066 (GRCm39)	V488L	probably damaging	Het
Adam12	T	C	7: 133,521,240 (GRCm39)	E638G	possibly damaging	Het
Adamts20	T	A	15: 94,220,772 (GRCm39)	Q1387L	possibly damaging	Het
Adamts3	G	T	5: 89,825,601 (GRCm39)	D1079E	probably benign	Het
Barx1	G	T	13: 48,818,555 (GRCm39)	G93C	probably damaging	Het
Carmil2	C	T	8: 106,419,677 (GRCm39)	R828C	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc159	T	C	9: 21,843,007 (GRCm39)	M148T	probably benign	Het
Cdk5rap1	T	A	2: 154,202,652 (GRCm39)	N193Y	probably benign	Het
Csnk1g2	G	A	10: 80,470,332 (GRCm39)	G15D	probably damaging	Het
Dach1	T	C	14: 98,406,295 (GRCm39)	S151G	probably benign	Het
Elf5	C	A	2: 103,269,645 (GRCm39)	N75K	probably benign	Het
Elp3	T	C	14: 65,802,782 (GRCm39)	D272G	probably damaging	Het
Epb41l1	T	A	2: 156,337,043 (GRCm39)		probably null	Het
Epha6	A	G	16: 59,596,028 (GRCm39)	Y888H	probably damaging	Het
Fibcd1	T	C	2: 31,707,222 (GRCm39)	Y345C	probably damaging	Het
Gjd3	C	T	11: 102,690,963 (GRCm39)	E347K	possibly damaging	Het
Gse1	A	G	8: 121,300,910 (GRCm39)	D892G	unknown	Het
Gtpbp6	A	T	5: 110,251,915 (GRCm39)	I506N	probably benign	Het
Hivep1	T	A	13: 42,311,668 (GRCm39)	F1303I	possibly damaging	Het
Il21r	A	G	7: 125,232,077 (GRCm39)	T502A	probably benign	Het
Ints1	T	C	5: 139,749,834 (GRCm39)	T997A	possibly damaging	Het
Invs	C	A	4: 48,396,381 (GRCm39)	N351K	probably damaging	Het
Iqcm	A	G	8: 76,489,701 (GRCm39)	T390A	probably benign	Het
Iqcn	A	G	8: 71,163,425 (GRCm39)	N873D	possibly damaging	Het
Kcnh4	C	T	11: 100,632,643 (GRCm39)	G948D	probably benign	Het
Kcnh7	T	A	2: 62,566,314 (GRCm39)		probably null	Het
Lrrc72	A	G	12: 36,258,611 (GRCm39)	V82A	probably damaging	Het
Macf1	A	T	4: 123,271,943 (GRCm39)	L6535Q	probably damaging	Het
Ncor2	G	C	5: 125,109,196 (GRCm39)	L585V		Het
Nipal2	G	C	15: 34,578,904 (GRCm39)	Y298*	probably null	Het
Nipsnap1	C	T	11: 4,832,960 (GRCm39)		probably benign	Het
Or12e1	T	A	2: 87,022,476 (GRCm39)	C148*	probably null	Het
Or4x12-ps1	T	C	2: 89,916,332 (GRCm39)	I158V	not run	Het
Or51g1	A	T	7: 102,633,524 (GRCm39)	Y282*	probably null	Het
Pcdhga4	C	T	18: 37,819,873 (GRCm39)	T474I	probably benign	Het
Pdp1	G	T	4: 11,960,821 (GRCm39)	Q516K	possibly damaging	Het
Pik3c2b	C	T	1: 133,017,940 (GRCm39)	P934L	probably damaging	Het
Pp2d1	A	G	17: 53,822,358 (GRCm39)	I236T	probably benign	Het
Rb1	A	T	14: 73,520,363 (GRCm39)	C215*	probably null	Het
Rgs22	A	G	15: 36,015,789 (GRCm39)	S1156P	possibly damaging	Het
Rgs9bp	T	C	7: 35,284,126 (GRCm39)	T174A	probably damaging	Het
Rnf133	A	T	6: 23,649,667 (GRCm39)	Y130*	probably null	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Serpinb6e	A	T	13: 34,022,923 (GRCm39)	F153L	probably benign	Het
Slc22a1	A	T	17: 12,885,587 (GRCm39)	Y200N	probably damaging	Het
Slc22a22	C	A	15: 57,113,107 (GRCm39)	M377I	probably benign	Het
Slc36a4	A	G	9: 15,633,452 (GRCm39)		probably null	Het
Slc39a6	A	G	18: 24,734,260 (GRCm39)	V143A	probably benign	Het
Slf2	G	A	19: 44,926,863 (GRCm39)		probably null	Het
Sowaha	T	C	11: 53,370,485 (GRCm39)	K84E	probably benign	Het
Spef2	T	G	15: 9,653,098 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,399 (GRCm39)	F1117I	probably damaging	Het
Tas2r113	T	C	6: 132,870,539 (GRCm39)	I189T	possibly damaging	Het
Tescl	T	C	7: 24,033,247 (GRCm39)	E26G	possibly damaging	Het
Trpm6	A	T	19: 18,854,150 (GRCm39)	I1847F	probably damaging	Het
Uba1y	T	A	Y: 822,200 (GRCm39)	C178S	possibly damaging	Het
Ush2a	T	A	1: 188,175,526 (GRCm39)	V1208D	possibly damaging	Het
Usp13	G	C	3: 32,949,000 (GRCm39)	A446P	probably damaging	Het
Usp7	A	T	16: 8,514,588 (GRCm39)	C722S	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,535 (GRCm39)	S280G	probably benign	Het
Vmn2r84	T	C	10: 130,225,077 (GRCm39)	K478E	probably damaging	Het
Zfp112	C	A	7: 23,824,952 (GRCm39)	L311I	probably benign	Het
Zfp180	G	T	7: 23,805,125 (GRCm39)	E515*	probably null	Het
Zfp518b	A	G	5: 38,829,671 (GRCm39)	I778T	probably damaging	Het
Zfp800	A	T	6: 28,243,662 (GRCm39)	H434Q	probably benign	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
R4924:Pygm	UTSW	19	6,443,754 (GRCm39)	missense	probably damaging	1.00
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
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'- AACGTCGTCAACACCATGCG -3'
(R):5'- CAGGAAATGTCATATCCCAGCC -3'

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

Posted On

2019-06-26