Mutagenetix > Incidental Mutation

Incidental Mutation 'R0423:Pygb'

38569

Institutional Source

Beutler Lab

Gene Symbol

Pygb

Ensembl Gene

ENSMUSG00000033059

Gene Name

brain glycogen phosphorylase

Synonyms

MMRRC Submission

038625-MU

Accession Numbers

Essential gene?

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

Stock #

R0423 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

150628716-150673668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150665904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 593 (K593E)

Ref Sequence

ENSEMBL: ENSMUSP00000035743 (fasta)

Gene Model

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

AlphaFold

Q8CI94

Predicted Effect

probably benign
Transcript: ENSMUST00000045441
AA Change: K593E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: K593E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135717

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.9%

Validation Efficiency

99% (84/85)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,261,825 (GRCm39)		noncoding transcript	Het
A630001G21Rik	A	G	1: 85,654,187 (GRCm39)	I50T	probably benign	Het
Abhd12	T	C	2: 150,680,312 (GRCm39)	T264A	possibly damaging	Het
Acsm3	T	C	7: 119,376,382 (GRCm39)	Y370H	probably damaging	Het
Ank2	G	T	3: 126,723,509 (GRCm39)	Y3789*	probably null	Het
Anxa4	C	T	6: 86,737,719 (GRCm39)	A1T	probably damaging	Het
Apba1	T	A	19: 23,922,362 (GRCm39)	V810D	probably damaging	Het
Bank1	A	G	3: 135,989,778 (GRCm39)	I104T	possibly damaging	Het
Birc6	T	C	17: 75,003,292 (GRCm39)	Y4721H	probably damaging	Het
Bmpr2	A	G	1: 59,907,669 (GRCm39)	T921A	probably benign	Het
Ccdc102a	A	C	8: 95,632,554 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,869,794 (GRCm39)	D904Y	probably damaging	Het
Ccdc96	A	G	5: 36,642,591 (GRCm39)	K199R	probably benign	Het
Cdh10	G	A	15: 18,986,965 (GRCm39)	V399I	probably benign	Het
Cenpk	A	G	13: 104,370,733 (GRCm39)	T85A	probably benign	Het
Col6a2	A	C	10: 76,450,751 (GRCm39)	V60G	possibly damaging	Het
Cops7b	A	G	1: 86,526,753 (GRCm39)	D119G	probably benign	Het
Cstf2t	A	G	19: 31,061,676 (GRCm39)	E404G	possibly damaging	Het
Ctnna2	A	T	6: 77,630,052 (GRCm39)	V134E	probably damaging	Het
Cwh43	A	C	5: 73,574,085 (GRCm39)	M250L	probably benign	Het
Daam2	T	A	17: 49,776,449 (GRCm39)	K813*	probably null	Het
Dhcr24	G	A	4: 106,443,733 (GRCm39)		probably benign	Het
Dnah8	G	T	17: 30,920,955 (GRCm39)	R1182L	probably benign	Het
Doc2a	C	T	7: 126,447,830 (GRCm39)	P25S	probably damaging	Het
Dst	A	G	1: 34,317,116 (GRCm39)	S6823G	possibly damaging	Het
Espl1	T	A	15: 102,212,421 (GRCm39)	L509*	probably null	Het
Fbxw19	C	T	9: 109,315,134 (GRCm39)	V143I	probably benign	Het
Fbxw5	A	G	2: 25,394,538 (GRCm39)	T171A	possibly damaging	Het
Gfra2	C	T	14: 71,133,521 (GRCm39)	T117M	probably damaging	Het
Gm454	T	A	5: 138,202,403 (GRCm39)		noncoding transcript	Het
Ilrun	A	C	17: 28,005,207 (GRCm39)	Y117D	probably damaging	Het
Kcnq4	A	G	4: 120,574,705 (GRCm39)	S120P	probably damaging	Het
Krt84	A	T	15: 101,437,155 (GRCm39)	L336Q	probably damaging	Het
Lilra6	T	A	7: 3,917,774 (GRCm39)		probably benign	Het
Mbnl2	G	A	14: 120,562,736 (GRCm39)	R29H	probably damaging	Het
Mcm3ap	G	A	10: 76,338,539 (GRCm39)	G1389D	probably benign	Het
Mettl13	A	T	1: 162,371,954 (GRCm39)	I305N	probably damaging	Het
Muc6	A	G	7: 141,238,548 (GRCm39)	S30P	probably benign	Het
Myh7	T	A	14: 55,216,646 (GRCm39)	Q1237L	probably benign	Het
Myo9a	T	G	9: 59,802,619 (GRCm39)	D2035E	probably damaging	Het
Nat10	A	G	2: 103,578,572 (GRCm39)	S211P	probably damaging	Het
Ntm	T	C	9: 29,090,395 (GRCm39)	Y108C	probably damaging	Het
Or14c39	T	C	7: 86,344,434 (GRCm39)	Y257H	possibly damaging	Het
Or7g25	A	T	9: 19,160,248 (GRCm39)	L149*	probably null	Het
Pcdhb16	A	G	18: 37,613,422 (GRCm39)	D794G	probably benign	Het
Phlpp1	A	G	1: 106,267,345 (GRCm39)	T753A	probably benign	Het
Pierce1	T	C	2: 28,356,036 (GRCm39)		probably benign	Het
Pnldc1	T	C	17: 13,108,963 (GRCm39)	Q511R	possibly damaging	Het
Ppip5k2	A	G	1: 97,689,152 (GRCm39)	S38P	possibly damaging	Het
Rangap1	A	T	15: 81,589,664 (GRCm39)	F564I	probably damaging	Het
Rictor	A	T	15: 6,803,381 (GRCm39)	I498F	possibly damaging	Het
Rnase12	A	T	14: 51,294,613 (GRCm39)	V22D	probably benign	Het
Rpl7l1	T	A	17: 47,091,324 (GRCm39)	M93L	probably benign	Het
Smg1	T	C	7: 117,776,103 (GRCm39)	R1396G	possibly damaging	Het
Snx19	C	A	9: 30,347,133 (GRCm39)	T692N	probably damaging	Het
Spag6	A	G	2: 18,715,404 (GRCm39)	D61G	probably benign	Het
Spen	T	A	4: 141,206,647 (GRCm39)	N660I	unknown	Het
Sptan1	T	G	2: 29,918,684 (GRCm39)	C2246G	probably null	Het
Svopl	A	G	6: 38,013,642 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,928,078 (GRCm39)	N108K	probably benign	Het
Thbs4	T	C	13: 92,893,079 (GRCm39)	D703G	probably damaging	Het
Tle6	G	T	10: 81,434,457 (GRCm39)	N47K	possibly damaging	Het
Usp48	G	T	4: 137,343,722 (GRCm39)	V452L	probably benign	Het
Ust	A	T	10: 8,173,912 (GRCm39)	S198T	probably damaging	Het
Wnk2	T	A	13: 49,248,894 (GRCm39)	M386L	possibly damaging	Het
Ywhaq	T	C	12: 21,441,382 (GRCm39)		probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp316	A	G	5: 143,238,993 (GRCm39)	S1009P	probably damaging	Het
Zfp963	A	G	8: 70,197,156 (GRCm39)	Y29H	probably damaging	Het
Zmym4	A	G	4: 126,776,112 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 128,019,607 (GRCm39)	I45T	probably damaging	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
R0545:Pygb	UTSW	2	150,657,626 (GRCm39)	missense	probably benign	0.00
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'- AGCCTGGTGTGCAAGTGCAAAG -3'
(R):5'- CTGAACAGTCACAGCCATGTCTCC -3'

Sequencing Primer
(F):5'- CAAAGCTAGGGAGACCCTGTTC -3'
(R):5'- CTGTACTATGAAATCCTGGAGGC -3'

Posted On

2013-05-23