Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Pygl'

699484

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: 0.305) question?

Stock #

R9221 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70190811-70231488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70195627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 685 (N685S)

Ref Sequence

ENSEMBL: ENSMUSP00000071231 (fasta)

Gene Model

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

AlphaFold

Q9ET01

Predicted Effect

probably damaging
Transcript: ENSMUST00000071250
AA Change: N685S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: N685S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161083
AA Change: N594S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: N594S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528A11Rik	A	G	14: 37,107,395	S44P	probably damaging	Het
2810403A07Rik	T	C	3: 88,686,546	S81P	probably benign	Het
Abca4	A	G	3: 122,128,179	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,768,908	R116*	probably null	Het
Ahnak	T	A	19: 9,012,579	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,879,611	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,502,310	F1351L	probably damaging	Het
Atg7	C	T	6: 114,695,627	T267I	possibly damaging	Het
Bace2	A	G	16: 97,408,492	K202R	probably benign	Het
Bccip	G	T	7: 133,709,520	V55L	probably benign	Het
Bpifa1	T	A	2: 154,146,132	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,811,171	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,786,771	S480A	probably benign	Het
Cenpe	T	C	3: 135,230,078	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,634,907	M185R	probably damaging	Het
Chd5	G	T	4: 152,371,665	M930I	probably damaging	Het
Clstn2	G	T	9: 97,461,342	T684K	probably benign	Het
Col4a2	A	G	8: 11,441,943	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,902,925	H141R	probably benign	Het
Dcc	A	G	18: 71,420,362	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,680,369	C430*	probably null	Het
Dgki	G	A	6: 37,296,680	T12M	probably benign	Het
Dock6	T	C	9: 21,809,857	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,056,396	R9H	probably damaging	Het
Fstl5	A	G	3: 76,661,807	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,497,390	Y44F	probably benign	Het
Gm498	G	T	7: 143,881,165		probably null	Het
Gtf3c2	A	C	5: 31,169,057	I370R	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Hspg2	A	G	4: 137,560,415	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,030,159	C167*	probably null	Het
Kpna2	A	G	11: 106,989,332	S497P	probably damaging	Het
Krt77	T	A	15: 101,865,629	T197S	probably damaging	Het
Krtap6-5	T	C	16: 89,047,767	Y26C	unknown	Het
Lhfpl5	A	T	17: 28,580,159	D214V	possibly damaging	Het
Lrrtm1	A	G	6: 77,244,613	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,265,364	V867A	probably benign	Het
Mtcl1	T	A	17: 66,343,884	M1529L	probably benign	Het
Mthfr	A	T	4: 148,048,169	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,674,918	N360K	probably damaging	Het
Nbea	AC	A	3: 56,090,972		probably null	Het
Olfr1028	T	A	2: 85,951,841	Y259*	probably null	Het
Olfr1208	T	C	2: 88,896,911	S229G	probably benign	Het
Olfr1437	A	T	19: 12,321,972	M285K	probably damaging	Het
Olfr393	A	T	11: 73,847,282	V281E	probably damaging	Het
P2rx5	A	T	11: 73,171,829	T455S	probably damaging	Het
Palld	A	T	8: 61,516,557	F1244L	unknown	Het
Pbld1	A	G	10: 63,072,050	T125A		Het
Pde3b	G	A	7: 114,415,462		probably benign	Het
Pfkm	T	C	15: 98,121,307	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,269,972	R626S	possibly damaging	Het
Postn	A	G	3: 54,375,094	E492G	possibly damaging	Het
Prph2	A	G	17: 46,919,892	D237G	probably damaging	Het
Psmd4	T	C	3: 95,035,293	H105R	probably damaging	Het
Rp1	A	G	1: 4,245,043	F502S	unknown	Het
Sik1	T	C	17: 31,847,193	I607V	probably benign	Het
Slc26a3	T	A	12: 31,463,471	I464N	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,024,566		probably null	Het
Spink5	T	C	18: 43,986,300	L226P	probably damaging	Het
Tab1	G	A	15: 80,150,553	V180I	probably benign	Het
Tacc2	T	G	7: 130,624,328	S914R	probably damaging	Het
Tacc2	C	T	7: 130,624,479	R965C	probably benign	Het
Tlr9	A	G	9: 106,224,773	D421G	probably damaging	Het
Tmem181a	T	C	17: 6,256,990	L16P	probably damaging	Het
Trim58	A	T	11: 58,651,249	H345L	probably damaging	Het
Ttc13	G	A	8: 124,673,551	R688C	probably benign	Het
Ube2o	C	A	11: 116,542,838	V685L	probably damaging	Het
Uso1	A	G	5: 92,187,314	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,504,300	Y282*	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
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
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'- GTGCCTGCCTGAGGAATAATATCC -3'
(R):5'- TCCACTGAAGGTGTACCAGG -3'

Sequencing Primer
(F):5'- GCCTGAGGAATAATATCCCTTCCTGG -3'
(R):5'- GGTGTACCAGGATCTGCACATACTC -3'

Posted On

2022-02-07