Mutagenetix > Incidental Mutation

Incidental Mutation 'R4614:Pygl'

344969

Institutional Source

Beutler Lab

Gene Symbol

Pygl

Ensembl Gene

ENSMUSG00000021069

Gene Name

liver glycogen phosphorylase

Synonyms

MMRRC Submission

041825-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R4614 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

70190811-70231488 bp(-) (GRCm38)

Type of Mutation

splice site (48 bp from exon)

DNA Base Change (assembly)

T to C at 70210979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071250] [ENSMUST00000161083]

AlphaFold

Q9ET01

Predicted Effect

probably null
Transcript: ENSMUST00000071250

SMART Domains

Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069

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

Predicted Effect

probably null
Transcript: ENSMUST00000161083

SMART Domains

Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069

Domain	Start	End	E-Value	Type
Pfam:Phosphorylase	21	739	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222093

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,254,256		probably null	Het
4932414N04Rik	C	A	2: 68,745,460	T701K	probably benign	Het
6030419C18Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,499,432		probably benign	Het
Abcb11	A	T	2: 69,284,681	H640Q	possibly damaging	Het
Ago2	C	T	15: 73,130,967	V139M	probably damaging	Het
Apol11a	A	T	15: 77,516,572	K86N	probably benign	Het
Ass1	T	C	2: 31,514,783	Y359H	probably damaging	Het
Bpifa3	A	T	2: 154,136,280	N34I	probably damaging	Het
Brwd1	A	T	16: 96,047,359	L540H	probably damaging	Het
C3ar1	G	A	6: 122,850,721	S179F	probably benign	Het
Ccnb1ip1	T	C	14: 50,792,195	T137A	probably benign	Het
Cd5l	A	G	3: 87,368,619	T299A	probably benign	Het
Cdk12	T	A	11: 98,249,777		probably benign	Het
Cep290	T	C	10: 100,508,740	M480T	probably benign	Het
Cep290	G	A	10: 100,559,687	R2112K	possibly damaging	Het
Chn2	G	A	6: 54,290,403	M292I	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 25,291,670		probably null	Het
Cpeb1	A	T	7: 81,436,270	D41E	possibly damaging	Het
Csf2rb2	C	G	15: 78,291,702	C184S	probably damaging	Het
Ctsc	G	A	7: 88,278,375		probably null	Het
Cyp2c40	G	A	19: 39,803,856	S191L	probably damaging	Het
Dagla	T	C	19: 10,248,277	E841G	probably damaging	Het
Dld	A	T	12: 31,333,945	Y386*	probably null	Het
Dpp8	G	A	9: 65,066,396	S634N	probably benign	Het
Duox2	A	T	2: 122,289,557	V824E	probably damaging	Het
Dync2h1	A	C	9: 7,011,290	S3634R	probably benign	Het
Eef1d	T	C	15: 75,903,576	N78S	probably benign	Het
Fcrl5	T	A	3: 87,448,426	I482N	probably damaging	Het
Fezf1	A	T	6: 23,247,858	C73S	possibly damaging	Het
Fgfr1	A	G	8: 25,557,797	D53G	probably benign	Het
Fmn1	T	C	2: 113,365,149	L398S	unknown	Het
Gm17175	T	C	14: 51,571,585	Q108R	probably benign	Het
Gm28042	G	A	2: 120,041,158	G669D	probably damaging	Het
Gm6185	A	G	1: 161,223,099		noncoding transcript	Het
Gucy2g	A	T	19: 55,202,147	C1018*	probably null	Het
H2-Q10	A	T	17: 35,474,020		probably benign	Het
H2-T22	T	G	17: 36,040,537	Q267P	probably benign	Het
Hibadh	A	G	6: 52,546,930	Y328H	possibly damaging	Het
Hsd3b3	T	A	3: 98,742,080	Y309F	probably benign	Het
Ighv1-37	C	T	12: 114,896,243	A116T	probably benign	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Iqch	A	G	9: 63,482,581	M733T	probably benign	Het
Jakmip2	T	A	18: 43,562,592	D539V	probably damaging	Het
Lgi2	A	G	5: 52,538,433	S395P	probably damaging	Het
Lrrc40	A	T	3: 158,054,634	N344I	probably damaging	Het
Ltbp1	G	A	17: 75,289,994		probably benign	Het
Metap1d	C	T	2: 71,524,948	P332L	probably benign	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mis18bp1	T	A	12: 65,153,529		probably benign	Het
Mta2	T	C	19: 8,948,128		probably null	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Muc4	A	G	16: 32,757,058	K241E	probably benign	Het
Mup18	T	A	4: 61,671,917	I125F	possibly damaging	Het
Nfs1	A	G	2: 156,144,050	S31P	probably benign	Het
Olfr38	G	T	6: 42,762,418	R122L	probably benign	Het
Olfr419	A	G	1: 174,250,622	F102L	possibly damaging	Het
Olfr981	T	A	9: 40,022,959	C189S	probably damaging	Het
Otogl	A	T	10: 107,892,124	C245*	probably null	Het
Pcdhb16	G	A	18: 37,480,345	G786D	probably benign	Het
Pdcd5	C	T	7: 35,647,047		probably benign	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Piezo1	A	T	8: 122,486,411	I1871N	probably benign	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Plxnd1	T	C	6: 115,972,525	T767A	possibly damaging	Het
Polr3c	T	G	3: 96,716,471	I322L	probably benign	Het
Ppp1r26	C	A	2: 28,450,848	H163Q	probably benign	Het
Prox1	T	G	1: 190,162,008	Y80S	probably damaging	Het
Rab23	T	C	1: 33,739,385	V236A	probably benign	Het
Setd2	T	C	9: 110,569,813		probably null	Het
Slc5a7	A	G	17: 54,276,559	S568P	probably benign	Het
Smpd3	A	G	8: 106,259,739	L477P	probably damaging	Het
Spg21	A	G	9: 65,480,389		probably null	Het
Spta1	A	T	1: 174,192,977	I551F	probably damaging	Het
Supt5	A	T	7: 28,325,972	I135N	possibly damaging	Het
Tacstd2	A	G	6: 67,535,186	F174S	probably damaging	Het
Tas1r2	A	T	4: 139,659,787	T186S	probably damaging	Het
Tie1	A	G	4: 118,479,051	Y673H	probably damaging	Het
Tom1l1	A	T	11: 90,671,126	N190K	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Tox4	C	T	14: 52,287,467	T249I	probably damaging	Het
Trmt1l	C	T	1: 151,454,048	Q581*	probably null	Het
Vmn1r49	A	G	6: 90,072,552	V156A	probably benign	Het
Vmn2r13	A	T	5: 109,175,199	F75I	probably benign	Het
Washc2	T	A	6: 116,238,174	S502T	possibly damaging	Het
Wnk4	A	T	11: 101,274,111	E755D	probably benign	Het
Zfp207	T	A	11: 80,395,190		probably benign	Het
Zfp352	A	G	4: 90,225,081	K486R	probably benign	Het

Other mutations in Pygl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Pygl	APN	12	70191092	missense	probably damaging	1.00
IGL00903:Pygl	APN	12	70207742	missense	probably damaging	1.00
IGL01965:Pygl	APN	12	70191114	missense	probably benign	0.00
IGL02347:Pygl	APN	12	70201892	missense	probably benign	0.14
IGL02403:Pygl	APN	12	70194258	missense	probably benign
IGL02501:Pygl	APN	12	70191134	missense	probably benign	0.05
IGL02727:Pygl	APN	12	70207668	splice site	probably null
IGL03125:Pygl	APN	12	70197482	missense	probably damaging	1.00
IGL03158:Pygl	APN	12	70195675	missense	probably damaging	1.00
IGL03202:Pygl	APN	12	70199646	missense	probably benign
IGL03368:Pygl	APN	12	70191152	missense	probably benign
R0096:Pygl	UTSW	12	70191166	splice site	probably benign
R0096:Pygl	UTSW	12	70191166	splice site	probably benign
R0524:Pygl	UTSW	12	70207724	missense	probably damaging	1.00
R0883:Pygl	UTSW	12	70206404	missense	probably damaging	0.97
R0894:Pygl	UTSW	12	70194374	splice site	probably benign
R0905:Pygl	UTSW	12	70211017	splice site	probably benign
R1494:Pygl	UTSW	12	70199730	missense	probably damaging	0.98
R1621:Pygl	UTSW	12	70191092	missense	probably damaging	1.00
R1647:Pygl	UTSW	12	70197010	missense	possibly damaging	0.60
R3082:Pygl	UTSW	12	70197529	missense	probably damaging	1.00
R3845:Pygl	UTSW	12	70198443	missense	probably benign	0.12
R3876:Pygl	UTSW	12	70201339	missense	probably damaging	1.00
R4358:Pygl	UTSW	12	70195690	missense	probably damaging	1.00
R4707:Pygl	UTSW	12	70207758	missense	possibly damaging	0.69
R4908:Pygl	UTSW	12	70197033	missense	probably null
R4940:Pygl	UTSW	12	70206381	missense	probably damaging	1.00
R5077:Pygl	UTSW	12	70201892	missense	probably benign	0.14
R5186:Pygl	UTSW	12	70201344	missense	probably damaging	1.00
R5726:Pygl	UTSW	12	70191142	nonsense	probably null
R5953:Pygl	UTSW	12	70219627	missense	probably damaging	1.00
R5957:Pygl	UTSW	12	70199720	missense	probably damaging	0.99
R6020:Pygl	UTSW	12	70216654	missense	probably damaging	1.00
R6024:Pygl	UTSW	12	70197067	missense	probably benign	0.09
R7050:Pygl	UTSW	12	70219622	missense	probably damaging	1.00
R7159:Pygl	UTSW	12	70197406	missense	probably benign	0.41
R7194:Pygl	UTSW	12	70194320	missense	probably benign
R7283:Pygl	UTSW	12	70216568	missense	possibly damaging	0.92
R7360:Pygl	UTSW	12	70227532	missense	probably benign	0.11
R7446:Pygl	UTSW	12	70197010	missense	probably benign
R7637:Pygl	UTSW	12	70197795	splice site	probably null
R7886:Pygl	UTSW	12	70206356	splice site	probably null
R8054:Pygl	UTSW	12	70227339	critical splice donor site	probably null
R8693:Pygl	UTSW	12	70197406	missense	probably benign	0.41
R8753:Pygl	UTSW	12	70195626	missense	probably damaging	1.00
R8803:Pygl	UTSW	12	70195616	missense	probably damaging	1.00
R8842:Pygl	UTSW	12	70227594	intron	probably benign
R9192:Pygl	UTSW	12	70197048	missense	probably damaging	0.99
R9221:Pygl	UTSW	12	70195627	missense	probably damaging	1.00
R9437:Pygl	UTSW	12	70200151	missense	probably damaging	1.00
R9750:Pygl	UTSW	12	70198529	missense	possibly damaging	0.68
Z1176:Pygl	UTSW	12	70222874	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGAGGACAAGCAGGCTCATC -3'
(R):5'- TCCATTTTCAGGTAGAAGAGGC -3'

Sequencing Primer
(F):5'- AGAGTTTCTCTACATAACCCGGG -3'
(R):5'- GCAGATGACTGGCTCAGG -3'

Posted On

2015-09-25