Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Pygb'

444314

Institutional Source

Beutler Lab

Gene Symbol

Pygb

Ensembl Gene

ENSMUSG00000033059

Gene Name

brain glycogen phosphorylase

Synonyms

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150786735-150831758 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 150820888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035743 (fasta)

Gene Model

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

AlphaFold

Q8CI94

Predicted Effect

probably null
Transcript: ENSMUST00000045441

SMART Domains

Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154366

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294	E492*	probably null	Het
Acp7	T	A	7: 28,616,543	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931		probably null	Het
Capn7	T	C	14: 31,369,802	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181		probably null	Het
Myrip	A	G	9: 120,461,433	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544		probably null	Het
Olfr1113	T	A	2: 87,213,728	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769		probably null	Het
Pkhd1	T	A	1: 20,588,531	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081		probably null	Het
Rnf114	T	C	2: 167,510,934	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217		probably null	Het
Uso1	A	T	5: 92,198,337	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513	D151G	probably null	Het

Other mutations in Pygb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Pygb	APN	2	150819913	missense	probably benign	0.00
IGL01395:Pygb	APN	2	150801583	missense	probably benign	0.04
IGL01571:Pygb	APN	2	150830473	missense	probably benign	0.00
IGL01960:Pygb	APN	2	150813483	missense	probably benign	0.00
IGL03118:Pygb	APN	2	150820811	missense	probably benign	0.01
R0106:Pygb	UTSW	2	150806203	missense	probably benign	0.02
R0106:Pygb	UTSW	2	150806203	missense	probably benign	0.02
R0423:Pygb	UTSW	2	150823984	missense	probably benign
R0545:Pygb	UTSW	2	150815706	missense	probably benign	0.00
R0674:Pygb	UTSW	2	150815134	splice site	probably null
R1052:Pygb	UTSW	2	150786938	missense	probably benign	0.00
R1590:Pygb	UTSW	2	150817663	missense	possibly damaging	0.94
R1706:Pygb	UTSW	2	150827147	missense	probably damaging	1.00
R1786:Pygb	UTSW	2	150816772	missense	probably damaging	0.98
R2405:Pygb	UTSW	2	150820775	missense	probably benign	0.04
R3522:Pygb	UTSW	2	150828553	missense	probably benign	0.07
R4082:Pygb	UTSW	2	150826471	critical splice donor site	probably null
R4319:Pygb	UTSW	2	150815614	splice site	probably benign
R4662:Pygb	UTSW	2	150815116	missense	probably benign
R5072:Pygb	UTSW	2	150801578	missense	probably damaging	1.00
R5874:Pygb	UTSW	2	150786878	missense	probably benign	0.11
R5910:Pygb	UTSW	2	150815700	missense	probably benign	0.00
R6610:Pygb	UTSW	2	150823966	splice site	probably null
R6820:Pygb	UTSW	2	150816754	missense	possibly damaging	0.88
R7348:Pygb	UTSW	2	150786983	missense	probably benign	0.10
R7920:Pygb	UTSW	2	150787002	missense	possibly damaging	0.92
R7936:Pygb	UTSW	2	150815669	missense	probably benign	0.28
R9226:Pygb	UTSW	2	150820861	missense	possibly damaging	0.58
R9308:Pygb	UTSW	2	150826377	missense	probably benign	0.15
R9618:Pygb	UTSW	2	150815088	missense

Predicted Primers

PCR Primer
(F):5'- TCCTGTGTCGGTATAGCCAC -3'
(R):5'- TCCCATGTTCCAGGGATCGTAG -3'

Sequencing Primer
(F):5'- ACCGTCTTCCATTTCTCAGGAAAAC -3'
(R):5'- AGGGATCGTAGGTTCTCCAAC -3'

Posted On

2016-11-09