Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Pygb'

44736

Institutional Source

Beutler Lab

Gene Symbol

Pygb

Ensembl Gene

ENSMUSG00000033059

Gene Name

brain glycogen phosphorylase

Synonyms

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150628716-150673668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150657626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 363 (D363V)

Ref Sequence

ENSEMBL: ENSMUSP00000035743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045441]

AlphaFold

Q8CI94

Predicted Effect

probably benign
Transcript: ENSMUST00000045441
AA Change: D363V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: D363V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154366

Meta Mutation Damage Score

0.2716

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,547,187 (GRCm39)	R76H	probably damaging	Het
Adnp2	T	C	18: 80,172,616 (GRCm39)	I598V	probably benign	Het
Ago3	T	C	4: 126,311,025 (GRCm39)	N63D	probably damaging	Het
Alkbh7	C	T	17: 57,306,012 (GRCm39)	R138*	probably null	Het
Atp6ap1l	T	C	13: 91,031,782 (GRCm39)	H300R	probably benign	Het
BC051076	C	T	5: 88,111,349 (GRCm39)		noncoding transcript	Het
Bltp1	G	A	3: 37,041,839 (GRCm39)		probably benign	Het
Bpifb9a	T	A	2: 154,103,870 (GRCm39)	C104*	probably null	Het
Cacna2d2	T	C	9: 107,402,422 (GRCm39)	L826P	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,913,447 (GRCm39)	D526G	probably damaging	Het
Cdh23	T	A	10: 60,167,070 (GRCm39)	T1861S	probably benign	Het
Ces2f	A	C	8: 105,676,668 (GRCm39)	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,929,536 (GRCm39)		probably benign	Het
Chpf2	T	C	5: 24,795,322 (GRCm39)	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Cma2	A	T	14: 56,210,570 (GRCm39)	M86L	probably benign	Het
Cog6	A	T	3: 52,903,496 (GRCm39)	M134K	probably damaging	Het
Col1a1	A	G	11: 94,842,420 (GRCm39)	D1446G	unknown	Het
Cpne8	T	A	15: 90,381,278 (GRCm39)	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,582,165 (GRCm39)	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,875,105 (GRCm39)	L16R	probably damaging	Het
Dysf	T	C	6: 84,076,443 (GRCm39)	S603P	probably damaging	Het
Epha5	A	G	5: 84,215,217 (GRCm39)		probably null	Het
Ercc3	T	C	18: 32,378,955 (GRCm39)	S270P	probably damaging	Het
F10	T	A	8: 13,098,249 (GRCm39)	C151S	probably damaging	Het
Gpr180	T	G	14: 118,397,458 (GRCm39)	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,091,633 (GRCm39)	E32G	possibly damaging	Het
Ikzf5	T	C	7: 130,994,229 (GRCm39)	T133A	possibly damaging	Het
Itch	G	T	2: 155,024,218 (GRCm39)	G274*	probably null	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Lama3	T	A	18: 12,694,758 (GRCm39)	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,719,987 (GRCm39)	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,077,328 (GRCm39)	D197G	probably benign	Het
Mfap2	A	G	4: 140,741,496 (GRCm39)		probably benign	Het
Mfhas1	A	G	8: 36,056,202 (GRCm39)	K226E	probably damaging	Het
Morc1	A	G	16: 48,386,020 (GRCm39)	R548G	probably benign	Het
Mrgprb5	T	C	7: 47,818,633 (GRCm39)	N34S	probably benign	Het
Mroh4	T	C	15: 74,497,276 (GRCm39)	T182A	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,074,319 (GRCm39)	F743L	possibly damaging	Het
Notch4	A	C	17: 34,802,407 (GRCm39)	D1276A	probably damaging	Het
Or1e34	A	T	11: 73,778,843 (GRCm39)	Y118*	probably null	Het
Or3a10	A	G	11: 73,935,873 (GRCm39)	C76R	possibly damaging	Het
Or6c209	T	A	10: 129,483,218 (GRCm39)	C74S	probably damaging	Het
Or6d15	T	A	6: 116,559,617 (GRCm39)	I97L	probably benign	Het
Plin4	T	A	17: 56,413,567 (GRCm39)	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357 (GRCm39)	T827A	probably benign	Het
Prlr	C	T	15: 10,317,652 (GRCm39)	T40I	probably damaging	Het
Psme3	T	C	11: 101,210,730 (GRCm39)		probably benign	Het
Rsph6a	C	T	7: 18,788,871 (GRCm39)	Q68*	probably null	Het
Serpini2	A	G	3: 75,165,445 (GRCm39)	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,759,195 (GRCm39)		probably benign	Het
Skint7	A	C	4: 111,837,395 (GRCm39)	M58L	probably benign	Het
Slco3a1	G	T	7: 73,970,301 (GRCm39)	Y435*	probably null	Het
Stk17b	T	C	1: 53,801,742 (GRCm39)		probably benign	Het
Tinag	T	A	9: 76,938,992 (GRCm39)	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,787,865 (GRCm39)	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,594,961 (GRCm39)	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,273,875 (GRCm39)	V41F	probably benign	Het
Washc5	C	T	15: 59,213,942 (GRCm39)	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,990,796 (GRCm39)	T352A	probably damaging	Het
Zan	A	C	5: 137,394,439 (GRCm39)	C4467G	unknown	Het
Zc3h7a	T	C	16: 10,970,197 (GRCm39)		probably benign	Het
Zfp729a	C	A	13: 67,768,345 (GRCm39)	C628F	probably benign	Het

Other mutations in Pygb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Pygb	APN	2	150,661,833 (GRCm39)	missense	probably benign	0.00
IGL01395:Pygb	APN	2	150,643,503 (GRCm39)	missense	probably benign	0.04
IGL01571:Pygb	APN	2	150,672,393 (GRCm39)	missense	probably benign	0.00
IGL01960:Pygb	APN	2	150,655,403 (GRCm39)	missense	probably benign	0.00
IGL03118:Pygb	APN	2	150,662,731 (GRCm39)	missense	probably benign	0.01
R0106:Pygb	UTSW	2	150,648,123 (GRCm39)	missense	probably benign	0.02
R0106:Pygb	UTSW	2	150,648,123 (GRCm39)	missense	probably benign	0.02
R0423:Pygb	UTSW	2	150,665,904 (GRCm39)	missense	probably benign
R0674:Pygb	UTSW	2	150,657,054 (GRCm39)	splice site	probably null
R1052:Pygb	UTSW	2	150,628,858 (GRCm39)	missense	probably benign	0.00
R1590:Pygb	UTSW	2	150,659,583 (GRCm39)	missense	possibly damaging	0.94
R1706:Pygb	UTSW	2	150,669,067 (GRCm39)	missense	probably damaging	1.00
R1786:Pygb	UTSW	2	150,658,692 (GRCm39)	missense	probably damaging	0.98
R2405:Pygb	UTSW	2	150,662,695 (GRCm39)	missense	probably benign	0.04
R3522:Pygb	UTSW	2	150,670,473 (GRCm39)	missense	probably benign	0.07
R4082:Pygb	UTSW	2	150,668,391 (GRCm39)	critical splice donor site	probably null
R4319:Pygb	UTSW	2	150,657,534 (GRCm39)	splice site	probably benign
R4662:Pygb	UTSW	2	150,657,036 (GRCm39)	missense	probably benign
R5072:Pygb	UTSW	2	150,643,498 (GRCm39)	missense	probably damaging	1.00
R5665:Pygb	UTSW	2	150,662,808 (GRCm39)	splice site	probably null
R5874:Pygb	UTSW	2	150,628,798 (GRCm39)	missense	probably benign	0.11
R5910:Pygb	UTSW	2	150,657,620 (GRCm39)	missense	probably benign	0.00
R6610:Pygb	UTSW	2	150,665,886 (GRCm39)	splice site	probably null
R6820:Pygb	UTSW	2	150,658,674 (GRCm39)	missense	possibly damaging	0.88
R7348:Pygb	UTSW	2	150,628,903 (GRCm39)	missense	probably benign	0.10
R7920:Pygb	UTSW	2	150,628,922 (GRCm39)	missense	possibly damaging	0.92
R7936:Pygb	UTSW	2	150,657,589 (GRCm39)	missense	probably benign	0.28
R9226:Pygb	UTSW	2	150,662,781 (GRCm39)	missense	possibly damaging	0.58
R9308:Pygb	UTSW	2	150,668,297 (GRCm39)	missense	probably benign	0.15
R9618:Pygb	UTSW	2	150,657,008 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCTCCTTCAAACCCTGAGTCATCAC -3'
(R):5'- CTTGCCCTCACTGAGCCTGTAAAC -3'

Sequencing Primer
(F):5'- AAACCCTGAGTCATCACTTTGG -3'
(R):5'- tccagggtggcctcgac -3'

Posted On

2013-06-11