Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Pygb'

267513

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: 0.186) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150786735-150831758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 150828553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 763 (V763F)

Ref Sequence

ENSEMBL: ENSMUSP00000035743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045441] [ENSMUST00000056149] [ENSMUST00000141899]

AlphaFold

Q8CI94

Predicted Effect

probably benign
Transcript: ENSMUST00000045441
AA Change: V763F

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: V763F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056149

SMART Domains

Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046

Domain	Start	End	E-Value	Type
low complexity region	15	36	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Hydrolase_4	165	297	1.2e-16	PFAM
Pfam:Abhydrolase_1	169	302	1.6e-13	PFAM
Pfam:Abhydrolase_5	170	359	2.5e-22	PFAM
Pfam:Abhydrolase_6	171	363	1.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135717

Predicted Effect

probably benign
Transcript: ENSMUST00000141899

SMART Domains

Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046

Domain	Start	End	E-Value	Type
low complexity region	15	36	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Abhydrolase_5	170	295	1.9e-16	PFAM
Pfam:Abhydrolase_6	171	293	3.8e-15	PFAM
Pfam:Abhydrolase_3	171	295	1.1e-6	PFAM
Pfam:Abhydrolase_1	198	271	1.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156641

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,549,626		probably null	Het
Ankrd35	A	G	3: 96,685,062	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143	G154V	probably benign	Het
Ccdc73	A	T	2: 104,991,485	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,250,410	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,871,193		probably null	Het
Dnah7a	A	C	1: 53,618,116	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253	V212D	probably damaging	Het
Hipk1	A	G	3: 103,744,114	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,576,285	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685	S147R	probably benign	Het
Iqgap3	C	T	3: 88,090,782	A282V	probably null	Het
Jmy	T	C	13: 93,454,050	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,719,768	V222M	probably damaging	Het
Mst1	T	C	9: 108,081,503		probably benign	Het
Myo7b	C	A	18: 32,010,079	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678		probably benign	Het
Olfr768	A	G	10: 129,093,842	I44T	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,785	T18A	probably damaging	Het
Olfr921	A	T	9: 38,775,720	D155V	possibly damaging	Het
Olfr988	A	T	2: 85,353,003	C308S	probably benign	Het
Phf3	A	G	1: 30,805,603	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353		probably null	Het
Ptgfrn	T	C	3: 101,043,402	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854		probably benign	Het
Ros1	A	C	10: 52,090,995	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,893,216	F5L	probably benign	Het
Skint5	A	G	4: 113,756,905		probably null	Het
Sntg2	A	G	12: 30,312,567	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,920,322	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,446,544	M1R	probably null	Het
Sult1c1	T	C	17: 53,972,015	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075		probably null	Het
Vmn1r184	T	A	7: 26,267,583	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493		probably benign	Het
Vwa5b2	A	G	16: 20,601,608	S756G	probably damaging	Het
Wdr36	T	A	18: 32,861,485		probably null	Het
Wdr86	A	G	5: 24,718,307	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743	L47S	probably benign	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
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
R5665:Pygb	UTSW	2	150820888	splice site	probably null
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'- TCCCACAGCCTGTCTTTGAG -3'
(R):5'- GAGGTATCACTAGAAGCCACTGC -3'

Sequencing Primer
(F):5'- CCTGTCTTTGAGGCTGCTTGTC -3'
(R):5'- TATCACTAGAAGCCACTGCAGATGTG -3'

Posted On

2015-02-18