Mutagenetix > Incidental Mutation

Incidental Mutation 'R5072:Pygb'

388849

Institutional Source

Beutler Lab

Gene Symbol

Pygb

Ensembl Gene

ENSMUSG00000033059

Gene Name

brain glycogen phosphorylase

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R5072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150628716-150673668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 150643498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 95 (T95M)

Ref Sequence

ENSEMBL: ENSMUSP00000035743 (fasta)

Gene Model

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

AlphaFold

Q8CI94

Predicted Effect

probably damaging
Transcript: ENSMUST00000045441
AA Change: T95M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: T95M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139938

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 90.9%

Validation Efficiency

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,414 (GRCm39)	H104Q	probably benign	Het
4933405L10Rik	A	G	8: 106,436,201 (GRCm39)	T158A	possibly damaging	Het
A1cf	T	C	19: 31,895,385 (GRCm39)	M156T	probably benign	Het
Abca15	A	G	7: 120,006,198 (GRCm39)	Y1620C	probably damaging	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Ablim1	A	G	19: 57,062,285 (GRCm39)		probably null	Het
Acox2	A	T	14: 8,241,374 (GRCm38)	Y579*	probably null	Het
Adnp	A	T	2: 168,024,921 (GRCm39)	S791R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Alx3	G	T	3: 107,512,109 (GRCm39)	S249I	possibly damaging	Het
Apob	A	G	12: 8,058,714 (GRCm39)	T2366A	probably benign	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Arid4a	T	C	12: 71,091,853 (GRCm39)	V213A	probably benign	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Bpifa5	A	T	2: 154,007,892 (GRCm39)	E178V	probably damaging	Het
Car4	G	A	11: 84,854,193 (GRCm39)	E47K	probably benign	Het
Catsper1	T	C	19: 5,390,074 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,259,118 (GRCm39)	Q260L	probably benign	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ces5a	C	T	8: 94,261,296 (GRCm39)	V44M	probably damaging	Het
Cltc	A	G	11: 86,608,794 (GRCm39)	I741T	possibly damaging	Het
Cnst	C	A	1: 179,450,451 (GRCm39)	D638E	possibly damaging	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Ddx20	A	G	3: 105,590,191 (GRCm39)		probably null	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Epha4	T	C	1: 77,421,639 (GRCm39)	Y281C	probably damaging	Het
Fbxo42	T	C	4: 140,926,256 (GRCm39)	W313R	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
Gtf2ird1	G	T	5: 134,419,787 (GRCm39)		probably null	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
H2ac20	C	T	3: 96,128,099 (GRCm39)		probably benign	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Homo
Hspg2	T	C	4: 137,267,541 (GRCm39)	S2050P	probably damaging	Het
Irgc	T	C	7: 24,132,196 (GRCm39)	D207G	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krtap1-4	C	G	11: 99,474,442 (GRCm39)		probably benign	Het
Lrrfip2	A	G	9: 111,028,872 (GRCm39)	E365G	probably damaging	Het
Ly75	A	G	2: 60,206,307 (GRCm39)	Y121H	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Mllt10	C	A	2: 18,114,685 (GRCm39)	H52N	possibly damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo3b	C	A	2: 69,925,593 (GRCm39)	T20K	possibly damaging	Het
Nipsnap2	A	T	5: 129,816,644 (GRCm39)	K62N	probably damaging	Het
Nr1i3	C	T	1: 171,044,382 (GRCm39)	T169I	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Oprm1	A	G	10: 6,782,550 (GRCm39)	S398G	probably benign	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51k1	T	A	7: 103,661,325 (GRCm39)	R195W	probably damaging	Het
Or6k2	A	T	1: 173,986,527 (GRCm39)	I63F	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Pitrm1	T	C	13: 6,603,226 (GRCm39)	F91S	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Rassf9	A	G	10: 102,381,766 (GRCm39)	K383E	probably damaging	Het
Rfk	T	A	19: 17,375,963 (GRCm39)	F86I	possibly damaging	Het
Rims2	T	C	15: 39,325,986 (GRCm39)	F773L	probably benign	Het
Sdcbp	A	G	4: 6,393,019 (GRCm39)	I218V	probably benign	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spen	A	T	4: 141,249,613 (GRCm39)	S58R	unknown	Het
St3gal2	T	C	8: 111,684,350 (GRCm39)	C3R	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Stat5b	T	C	11: 100,699,361 (GRCm39)		probably null	Het
Tmco3	G	T	8: 13,342,860 (GRCm39)	E199*	probably null	Het
Tmem26	A	G	10: 68,611,178 (GRCm39)	T216A	probably damaging	Het
Ttn	A	G	2: 76,550,822 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,602,709 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,576,746 (GRCm39)	V24716I	probably damaging	Het
Uba5	T	C	9: 103,931,626 (GRCm39)	E202G	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Utrn	A	T	10: 12,259,948 (GRCm39)		probably null	Het
Vmn2r111	C	A	17: 22,767,022 (GRCm39)	C825F	probably damaging	Het
Vmn2r113	T	A	17: 23,177,329 (GRCm39)	C704*	probably null	Het
Vmn2r56	A	G	7: 12,427,983 (GRCm39)	I761T	probably benign	Het
Vmn2r98	C	T	17: 19,286,306 (GRCm39)	T268I	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp473	T	A	7: 44,381,943 (GRCm39)	I797F	probably damaging	Het
Zfp68	A	T	5: 138,604,579 (GRCm39)	D543E	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
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
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'- ACTCAGCAGTAAGGTGTCAGG -3'
(R):5'- AAAACCTACCCCTGGACTGG -3'

Sequencing Primer
(F):5'- GATTGGGGTCCCATGAAAGTCCTAC -3'
(R):5'- GAAGGGAGTACATTTCTAGAAACTTC -3'

Posted On

2016-06-06