Mutagenetix > Incidental Mutation

Incidental Mutation 'R7637:Pygl'

628290

Institutional Source

Beutler Lab

Gene Symbol

Pygl

Ensembl Gene

ENSMUSG00000021069

Gene Name

liver glycogen phosphorylase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7637 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70190811-70231488 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 70197795 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,218,952	Q651L	probably benign	Het
Adam8	C	T	7: 139,985,430	V624I	probably damaging	Het
Ccdc144b	T	A	3: 36,046,876	Q49L	probably damaging	Het
Cltc	T	C	11: 86,730,332	H287R	probably damaging	Het
Cmya5	T	C	13: 93,083,212	K3243R	possibly damaging	Het
Dock5	G	A	14: 67,786,340	T1124M	possibly damaging	Het
Fam8a1	A	T	13: 46,671,247	M237L	probably benign	Het
Fars2	G	T	13: 36,204,775	K82N	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm5767	C	T	16: 8,683,646	P59L	unknown	Het
Gnat3	A	G	5: 18,003,772	D158G		Het
Grhl2	A	C	15: 37,328,330	N400T	probably damaging	Het
Grin2c	A	T	11: 115,256,259		probably null	Het
Hipk4	A	G	7: 27,523,548	Y11C	probably damaging	Het
Hspa9	G	T	18: 34,938,687	A620E	not run	Het
Igkv12-89	A	G	6: 68,835,099	S29P	probably benign	Het
Itga8	A	T	2: 12,109,187	D1039E	probably damaging	Het
Itgae	A	T	11: 73,113,631	D248V	probably damaging	Het
Kmt2c	T	C	5: 25,315,095	K2006E	probably damaging	Het
Mdga1	C	T	17: 29,832,379	G934R	probably benign	Het
Mov10	T	C	3: 104,795,885	N896S	probably benign	Het
Ndufb6	A	T	4: 40,273,080		probably null	Het
Nlk	T	C	11: 78,591,005		probably null	Het
Notch2	T	A	3: 98,146,623	S2201T	probably damaging	Het
Olfr152	A	T	2: 87,783,434	D298V	probably damaging	Het
Pank1	A	C	19: 34,821,988		probably null	Het
Pdlim3	T	C	8: 45,909,065	F126S	probably damaging	Het
Pds5a	C	A	5: 65,638,604	G648C	probably benign	Het
Plekhh3	T	C	11: 101,164,327	I567V	unknown	Het
Ppfia2	T	C	10: 106,865,403		probably null	Het
Prl3d1	A	G	13: 27,100,069	D207G	probably damaging	Het
Prss23	T	A	7: 89,510,246	D205V	probably benign	Het
Qsox2	A	G	2: 26,221,020	F111S	probably damaging	Het
Sart3	T	C	5: 113,771,352	N95S	probably benign	Het
Scpep1	A	G	11: 88,929,220	F414S	probably damaging	Het
Selenbp1	C	A	3: 94,937,348	Y105*	probably null	Het
Sirpa	A	G	2: 129,616,445	D327G	probably benign	Het
Sowahc	G	A	10: 59,222,183	R47H	probably damaging	Het
Szt2	T	C	4: 118,393,828	Y361C	probably damaging	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tie1	T	C	4: 118,472,978	I1042M	probably damaging	Het
Tmem132e	T	A	11: 82,434,516	L114Q	probably damaging	Het
Tmx3	A	G	18: 90,537,109	T317A	probably damaging	Het
Tppp3	A	G	8: 105,468,292	V69A	probably benign	Het
Tpr	T	C	1: 150,423,516	Y1156H	probably damaging	Het
Trank1	A	C	9: 111,365,296	D796A	possibly damaging	Het
Tsc2	G	A	17: 24,607,492	P928S	probably benign	Het
Unc80	G	T	1: 66,672,684	V2722F	possibly damaging	Het
Vmn1r199	G	T	13: 22,382,675	L46F	probably benign	Het
Vps13a	A	T	19: 16,750,149	H196Q	probably benign	Het
Wnt10a	T	A	1: 74,793,474	C75*	probably null	Het
Zfp335	A	G	2: 164,892,539		probably null	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
R4614:Pygl	UTSW	12	70210979	splice site	probably null
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
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'- TCCTCACTTGGATGCCTTGG -3'
(R):5'- GACATCACAGAACCTGGGTC -3'

Sequencing Primer
(F):5'- TGTCTGCTGGAGCCCAAATC -3'
(R):5'- ATCACAGAACCTGGGTCCTTGG -3'

Posted On

2020-02-24