Mutagenetix > Incidental Mutations

Incidental Mutation 'R7159:Pygl'

557523

Institutional Source

Beutler Lab

Gene Symbol

Pygl

Ensembl Gene

ENSMUSG00000021069

Gene Name

liver glycogen phosphorylase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70190811-70231488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70197406 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 587 (M587K)

Ref Sequence

ENSEMBL: ENSMUSP00000071231 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071250
AA Change: M587K

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: M587K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161083
AA Change: M496K

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: M496K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,730,579	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,439,462	S401P	probably benign	Het
Arfgef2	T	A	2: 166,826,928	D41E	probably benign	Het
Arid1a	T	C	4: 133,753,568	N15S	unknown	Het
Arsa	A	T	15: 89,474,718		probably null	Het
B3gnt9	C	A	8: 105,254,432	C108F	probably damaging	Het
Bbc3	C	A	7: 16,313,808	Y152*	probably null	Het
Btbd1	T	C	7: 81,818,209	M188V	probably benign	Het
Caln1	C	T	5: 130,822,997	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763	P266S	possibly damaging	Het
Ccm2l	A	T	2: 153,070,867	I109F	probably damaging	Het
Chst15	A	C	7: 132,270,258	L98R	probably damaging	Het
Ctsq	A	G	13: 61,038,923	M89T	probably benign	Het
Ddx39b	T	C	17: 35,247,010	V169A	probably benign	Het
Ddx58	A	G	4: 40,213,804	V618A	probably benign	Het
Fam57b	T	C	7: 126,827,495	F80S	probably damaging	Het
Fhad1	T	C	4: 141,951,616	H583R	probably benign	Het
Fndc1	T	A	17: 7,800,931	I139F	probably damaging	Het
Gm5724	T	A	6: 141,773,778	M1L	probably damaging	Het
Gm7145	C	G	1: 117,985,831	H148D	probably benign	Het
Gpr62	C	A	9: 106,465,442	A96S	probably damaging	Het
Gsap	T	A	5: 21,270,620		probably null	Het
Hdhd5	T	A	6: 120,523,471	T89S	probably damaging	Het
Kcna5	T	A	6: 126,533,629	Y512F	probably damaging	Het
Krt84	C	A	15: 101,529,609	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lrp6	C	A	6: 134,507,551	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,599,318	G167D	probably damaging	Het
Man2b1	C	T	8: 85,087,280	T291M	probably benign	Het
Mapkbp1	A	G	2: 120,025,132	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,276,017	T1947A	probably benign	Het
Myh15	A	T	16: 49,061,574	T60S	probably damaging	Het
Myo5a	A	T	9: 75,171,563	I868F	probably benign	Het
Myom3	A	T	4: 135,808,851	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677		probably null	Het
Ncam2	G	T	16: 81,490,374	S392I	probably damaging	Het
Nrg3	A	C	14: 38,370,735	L647*	probably null	Het
Olfr1062	T	A	2: 86,423,612		probably null	Het
Olfr1393	A	T	11: 49,280,358	D70V	probably damaging	Het
Olfr1406	A	T	1: 173,184,323	L37Q	possibly damaging	Het
Olfr721-ps1	T	C	14: 14,407,251	S8P	possibly damaging	Het
Pcdhb9	A	G	18: 37,401,492	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,686,919	N507S	probably damaging	Het
Pdilt	A	G	7: 119,487,951	V492A	probably benign	Het
Phf12	A	G	11: 78,023,540	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,097,585	I174F	probably benign	Het
Polq	A	T	16: 37,062,853	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 77,555,764	F97L	probably benign	Het
Prpsap1	T	C	11: 116,494,044	E13G	probably benign	Het
Ptpru	A	G	4: 131,819,540	L280P	probably damaging	Het
Rc3h2	T	C	2: 37,409,647	S124G	probably benign	Het
Rdh5	A	G	10: 128,918,315	I83T	possibly damaging	Het
Ryr2	T	G	13: 11,810,908	R561S	probably damaging	Het
Scara3	A	G	14: 65,920,780	L593P	probably damaging	Het
Scfd2	T	C	5: 74,531,343	I93V	probably benign	Het
Sema4f	C	A	6: 82,917,883	V444L	possibly damaging	Het
Spata33	T	C	8: 123,214,395	L61P	unknown	Het
Stard10	A	T	7: 101,343,136		probably null	Het
Stub1	T	C	17: 25,832,064	I115V	probably benign	Het
Tmem247	C	T	17: 86,918,282	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,887,022	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,013,874	Y245C	probably benign	Het
Trip13	T	C	13: 73,920,011	I284V	probably benign	Het
Trpm4	T	C	7: 45,327,268		probably null	Het
Ttn	A	G	2: 76,730,574	L29161S	probably damaging	Het
Ttn	C	A	2: 76,909,748	L3528F	unknown	Het
Ube2v2	G	A	16: 15,581,084	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,575,422	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,637,602	F526Y	probably damaging	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
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
Z1176:Pygl	UTSW	12	70222874	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ATTATGACTGTCCTTGGCACG -3'
(R):5'- ACCCTGGAGTGGAGGATTTG -3'

Sequencing Primer
(F):5'- GACTGTCCTTGGCACGAAGAATTTC -3'
(R):5'- ATTTGGGCTCCAGCAGACAC -3'

Posted On

2019-06-26