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 essential (E-score: 0.586) question?

Stock #

R4614 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

70237589-70274457 bp(-) (GRCm39)

Type of Mutation

splice site (48 bp from exon)

DNA Base Change (assembly)

T to C at 70257753 bp (GRCm39)

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: 77,402,375 (GRCm39)		probably null	Het
4932414N04Rik	C	A	2: 68,575,804 (GRCm39)	T701K	probably benign	Het
Abcb11	A	T	2: 69,115,025 (GRCm39)	H640Q	possibly damaging	Het
Ago2	C	T	15: 73,002,816 (GRCm39)	V139M	probably damaging	Het
Apol11a	A	T	15: 77,400,772 (GRCm39)	K86N	probably benign	Het
Ass1	T	C	2: 31,404,795 (GRCm39)	Y359H	probably damaging	Het
Bpifa3	A	T	2: 153,978,200 (GRCm39)	N34I	probably damaging	Het
Brwd1	A	T	16: 95,848,559 (GRCm39)	L540H	probably damaging	Het
C3ar1	G	A	6: 122,827,680 (GRCm39)	S179F	probably benign	Het
Ccnb1ip1	T	C	14: 51,029,652 (GRCm39)	T137A	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cdk12	T	A	11: 98,140,603 (GRCm39)		probably benign	Het
Cep290	T	C	10: 100,344,602 (GRCm39)	M480T	probably benign	Het
Cep290	G	A	10: 100,395,549 (GRCm39)	R2112K	possibly damaging	Het
Chn2	G	A	6: 54,267,388 (GRCm39)	M292I	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cpeb1	A	T	7: 81,086,018 (GRCm39)	D41E	possibly damaging	Het
Csf2rb2	C	G	15: 78,175,902 (GRCm39)	C184S	probably damaging	Het
Ctsc	G	A	7: 87,927,583 (GRCm39)		probably null	Het
Cyp2c40	G	A	19: 39,792,300 (GRCm39)	S191L	probably damaging	Het
Dagla	T	C	19: 10,225,641 (GRCm39)	E841G	probably damaging	Het
Dld	A	T	12: 31,383,944 (GRCm39)	Y386*	probably null	Het
Dpp8	G	A	9: 64,973,678 (GRCm39)	S634N	probably benign	Het
Duox2	A	T	2: 122,120,038 (GRCm39)	V824E	probably damaging	Het
Dync2h1	A	C	9: 7,011,290 (GRCm39)	S3634R	probably benign	Het
Eef1d	T	C	15: 75,775,425 (GRCm39)	N78S	probably benign	Het
Fcrl5	T	A	3: 87,355,733 (GRCm39)	I482N	probably damaging	Het
Fezf1	A	T	6: 23,247,857 (GRCm39)	C73S	possibly damaging	Het
Fgfr1	A	G	8: 26,047,813 (GRCm39)	D53G	probably benign	Het
Fmn1	T	C	2: 113,195,494 (GRCm39)	L398S	unknown	Het
Gm17175	T	C	14: 51,809,042 (GRCm39)	Q108R	probably benign	Het
Gm28042	G	A	2: 119,871,639 (GRCm39)	G669D	probably damaging	Het
Gm6185	A	G	1: 161,050,669 (GRCm39)		noncoding transcript	Het
Gucy2g	A	T	19: 55,190,579 (GRCm39)	C1018*	probably null	Het
H2-Q10	A	T	17: 35,784,917 (GRCm39)		probably benign	Het
H2-T22	T	G	17: 36,351,429 (GRCm39)	Q267P	probably benign	Het
Hibadh	A	G	6: 52,523,915 (GRCm39)	Y328H	possibly damaging	Het
Hsd3b3	T	A	3: 98,649,396 (GRCm39)	Y309F	probably benign	Het
Ighv1-37	C	T	12: 114,859,863 (GRCm39)	A116T	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Igkv8-21	A	T	6: 70,292,141 (GRCm39)	S34T	probably benign	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Iqch	A	G	9: 63,389,863 (GRCm39)	M733T	probably benign	Het
Jakmip2	T	A	18: 43,695,657 (GRCm39)	D539V	probably damaging	Het
Lgi2	A	G	5: 52,695,775 (GRCm39)	S395P	probably damaging	Het
Lrrc40	A	T	3: 157,760,271 (GRCm39)	N344I	probably damaging	Het
Ltbp1	G	A	17: 75,596,989 (GRCm39)		probably benign	Het
Metap1d	C	T	2: 71,355,292 (GRCm39)	P332L	probably benign	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mis18bp1	T	A	12: 65,200,303 (GRCm39)		probably benign	Het
Mta2	T	C	19: 8,925,492 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Muc4	A	G	16: 32,577,432 (GRCm39)	K241E	probably benign	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Nfs1	A	G	2: 155,985,970 (GRCm39)	S31P	probably benign	Het
Or10g6	T	A	9: 39,934,255 (GRCm39)	C189S	probably damaging	Het
Or10z1	A	G	1: 174,078,188 (GRCm39)	F102L	possibly damaging	Het
Or2f1b	G	T	6: 42,739,352 (GRCm39)	R122L	probably benign	Het
Otogl	A	T	10: 107,727,985 (GRCm39)	C245*	probably null	Het
Pcdhb16	G	A	18: 37,613,398 (GRCm39)	G786D	probably benign	Het
Pdcd5	C	T	7: 35,346,472 (GRCm39)		probably benign	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Piezo1	A	T	8: 123,213,150 (GRCm39)	I1871N	probably benign	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Plxnd1	T	C	6: 115,949,486 (GRCm39)	T767A	possibly damaging	Het
Polr3c	T	G	3: 96,623,787 (GRCm39)	I322L	probably benign	Het
Ppp1r26	C	A	2: 28,340,860 (GRCm39)	H163Q	probably benign	Het
Prox1	T	G	1: 189,894,205 (GRCm39)	Y80S	probably damaging	Het
Rab23	T	C	1: 33,778,466 (GRCm39)	V236A	probably benign	Het
Setd2	T	C	9: 110,398,881 (GRCm39)		probably null	Het
Slc5a7	A	G	17: 54,583,587 (GRCm39)	S568P	probably benign	Het
Smpd3	A	G	8: 106,986,371 (GRCm39)	L477P	probably damaging	Het
Spg21	A	G	9: 65,387,671 (GRCm39)		probably null	Het
Spta1	A	T	1: 174,020,543 (GRCm39)	I551F	probably damaging	Het
Supt5	A	T	7: 28,025,397 (GRCm39)	I135N	possibly damaging	Het
Tacstd2	A	G	6: 67,512,170 (GRCm39)	F174S	probably damaging	Het
Tas1r2	A	T	4: 139,387,098 (GRCm39)	T186S	probably damaging	Het
Tie1	A	G	4: 118,336,248 (GRCm39)	Y673H	probably damaging	Het
Tom1l1	A	T	11: 90,561,952 (GRCm39)	N190K	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tox4	C	T	14: 52,524,924 (GRCm39)	T249I	probably damaging	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Vmn2r13	A	T	5: 109,323,065 (GRCm39)	F75I	probably benign	Het
Washc2	T	A	6: 116,215,135 (GRCm39)	S502T	possibly damaging	Het
Wnk4	A	T	11: 101,164,937 (GRCm39)	E755D	probably benign	Het
Zfp207	T	A	11: 80,286,016 (GRCm39)		probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het

Other mutations in Pygl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Pygl	APN	12	70,237,866 (GRCm39)	missense	probably damaging	1.00
IGL00903:Pygl	APN	12	70,254,516 (GRCm39)	missense	probably damaging	1.00
IGL01965:Pygl	APN	12	70,237,888 (GRCm39)	missense	probably benign	0.00
IGL02347:Pygl	APN	12	70,248,666 (GRCm39)	missense	probably benign	0.14
IGL02403:Pygl	APN	12	70,241,032 (GRCm39)	missense	probably benign
IGL02501:Pygl	APN	12	70,237,908 (GRCm39)	missense	probably benign	0.05
IGL02727:Pygl	APN	12	70,254,442 (GRCm39)	splice site	probably null
IGL03125:Pygl	APN	12	70,244,256 (GRCm39)	missense	probably damaging	1.00
IGL03158:Pygl	APN	12	70,242,449 (GRCm39)	missense	probably damaging	1.00
IGL03202:Pygl	APN	12	70,246,420 (GRCm39)	missense	probably benign
IGL03368:Pygl	APN	12	70,237,926 (GRCm39)	missense	probably benign
R0096:Pygl	UTSW	12	70,237,940 (GRCm39)	splice site	probably benign
R0096:Pygl	UTSW	12	70,237,940 (GRCm39)	splice site	probably benign
R0524:Pygl	UTSW	12	70,254,498 (GRCm39)	missense	probably damaging	1.00
R0883:Pygl	UTSW	12	70,253,178 (GRCm39)	missense	probably damaging	0.97
R0894:Pygl	UTSW	12	70,241,148 (GRCm39)	splice site	probably benign
R0905:Pygl	UTSW	12	70,257,791 (GRCm39)	splice site	probably benign
R1494:Pygl	UTSW	12	70,246,504 (GRCm39)	missense	probably damaging	0.98
R1621:Pygl	UTSW	12	70,237,866 (GRCm39)	missense	probably damaging	1.00
R1647:Pygl	UTSW	12	70,243,784 (GRCm39)	missense	possibly damaging	0.60
R3082:Pygl	UTSW	12	70,244,303 (GRCm39)	missense	probably damaging	1.00
R3845:Pygl	UTSW	12	70,245,217 (GRCm39)	missense	probably benign	0.12
R3876:Pygl	UTSW	12	70,248,113 (GRCm39)	missense	probably damaging	1.00
R4358:Pygl	UTSW	12	70,242,464 (GRCm39)	missense	probably damaging	1.00
R4707:Pygl	UTSW	12	70,254,532 (GRCm39)	missense	possibly damaging	0.69
R4908:Pygl	UTSW	12	70,243,807 (GRCm39)	missense	probably null
R4940:Pygl	UTSW	12	70,253,155 (GRCm39)	missense	probably damaging	1.00
R5077:Pygl	UTSW	12	70,248,666 (GRCm39)	missense	probably benign	0.14
R5186:Pygl	UTSW	12	70,248,118 (GRCm39)	missense	probably damaging	1.00
R5726:Pygl	UTSW	12	70,237,916 (GRCm39)	nonsense	probably null
R5953:Pygl	UTSW	12	70,266,401 (GRCm39)	missense	probably damaging	1.00
R5957:Pygl	UTSW	12	70,246,494 (GRCm39)	missense	probably damaging	0.99
R6020:Pygl	UTSW	12	70,263,428 (GRCm39)	missense	probably damaging	1.00
R6024:Pygl	UTSW	12	70,243,841 (GRCm39)	missense	probably benign	0.09
R7050:Pygl	UTSW	12	70,266,396 (GRCm39)	missense	probably damaging	1.00
R7159:Pygl	UTSW	12	70,244,180 (GRCm39)	missense	probably benign	0.41
R7194:Pygl	UTSW	12	70,241,094 (GRCm39)	missense	probably benign
R7283:Pygl	UTSW	12	70,263,342 (GRCm39)	missense	possibly damaging	0.92
R7360:Pygl	UTSW	12	70,274,306 (GRCm39)	missense	probably benign	0.11
R7446:Pygl	UTSW	12	70,243,784 (GRCm39)	missense	probably benign
R7637:Pygl	UTSW	12	70,244,569 (GRCm39)	splice site	probably null
R7886:Pygl	UTSW	12	70,253,130 (GRCm39)	splice site	probably null
R8054:Pygl	UTSW	12	70,274,113 (GRCm39)	critical splice donor site	probably null
R8693:Pygl	UTSW	12	70,244,180 (GRCm39)	missense	probably benign	0.41
R8753:Pygl	UTSW	12	70,242,400 (GRCm39)	missense	probably damaging	1.00
R8803:Pygl	UTSW	12	70,242,390 (GRCm39)	missense	probably damaging	1.00
R8842:Pygl	UTSW	12	70,274,368 (GRCm39)	intron	probably benign
R9192:Pygl	UTSW	12	70,243,822 (GRCm39)	missense	probably damaging	0.99
R9221:Pygl	UTSW	12	70,242,401 (GRCm39)	missense	probably damaging	1.00
R9437:Pygl	UTSW	12	70,246,925 (GRCm39)	missense	probably damaging	1.00
R9750:Pygl	UTSW	12	70,245,303 (GRCm39)	missense	possibly damaging	0.68
Z1176:Pygl	UTSW	12	70,269,648 (GRCm39)	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