Mutagenetix > Incidental Mutation

Incidental Mutation 'R8054:Pygl'

619280

Institutional Source

Beutler Lab

Gene Symbol

Pygl

Ensembl Gene

ENSMUSG00000021069

Gene Name

liver glycogen phosphorylase

Synonyms

MMRRC Submission

067491-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R8054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70237589-70274457 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 70274113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071231 (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 benign
Transcript: ENSMUST00000161083

SMART Domains

Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,874,272 (GRCm39)	N399S	probably benign	Het
Akap9	T	C	5: 4,088,707 (GRCm39)		probably null	Het
Ankrd17	A	G	5: 90,438,914 (GRCm39)	I483T	probably benign	Het
Arl13b	T	C	16: 62,626,960 (GRCm39)	D247G	probably benign	Het
Brca2	A	G	5: 150,459,969 (GRCm39)	I415V	probably benign	Het
Brpf3	C	A	17: 29,055,571 (GRCm39)	S1173R	probably damaging	Het
Cby2	A	G	14: 75,821,339 (GRCm39)	Y129H	probably benign	Het
Ccar1	A	G	10: 62,583,215 (GRCm39)	L966P	unknown	Het
Cfap61	A	G	2: 145,815,438 (GRCm39)	N249S	probably damaging	Het
Clip4	T	A	17: 72,141,268 (GRCm39)	Y541N	possibly damaging	Het
Csn2	C	T	5: 87,845,886 (GRCm39)		probably null	Het
Cyp2c23	T	G	19: 43,995,555 (GRCm39)	E404A	probably damaging	Het
Cyp2e1	A	G	7: 140,350,871 (GRCm39)	E281G	possibly damaging	Het
Cyp2r1	T	A	7: 114,151,319 (GRCm39)		probably null	Het
D430041D05Rik	T	A	2: 103,985,390 (GRCm39)	I1226F	possibly damaging	Het
Dbx1	A	T	7: 49,282,498 (GRCm39)	W236R	probably damaging	Het
Dcp2	T	G	18: 44,538,774 (GRCm39)	N251K	probably benign	Het
Disp1	A	T	1: 182,869,812 (GRCm39)	Y869*	probably null	Het
Dnajc8	T	A	4: 132,272,068 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,621,226 (GRCm39)	N822D	probably benign	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Eml3	A	T	19: 8,916,414 (GRCm39)	T670S	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	A	T	2: 125,187,938 (GRCm39)	D1530E	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hsd3b3	A	T	3: 98,649,331 (GRCm39)	Y331N	probably damaging	Het
Ino80d	T	C	1: 63,097,837 (GRCm39)	R791G	possibly damaging	Het
Itprid1	A	T	6: 55,953,424 (GRCm39)	K913N	probably damaging	Het
Jade2	T	C	11: 51,709,441 (GRCm39)	R523G	probably benign	Het
Kmt2d	A	T	15: 98,741,806 (GRCm39)	D4451E	unknown	Het
Lax1	T	C	1: 133,611,345 (GRCm39)	T76A	probably benign	Het
Map4k1	A	G	7: 28,689,181 (GRCm39)		probably benign	Het
Mcu	G	A	10: 59,290,817 (GRCm39)	T121M	probably damaging	Het
Mepce	T	A	5: 137,783,004 (GRCm39)	K441*	probably null	Het
Mettl21e	C	A	1: 44,245,815 (GRCm39)	V144F	probably damaging	Het
Muc6	T	A	7: 141,231,748 (GRCm39)	S1049C	probably damaging	Het
Myh14	C	T	7: 44,274,551 (GRCm39)	V1246M	probably damaging	Het
Myo3a	A	T	2: 22,464,329 (GRCm39)	Q1128L	probably benign	Het
Nat8f2	T	C	6: 85,844,754 (GRCm39)	S203G	probably benign	Het
Npas2	A	G	1: 39,326,652 (GRCm39)	T46A	possibly damaging	Het
Nup133	T	C	8: 124,675,956 (GRCm39)		probably benign	Het
Oplah	C	T	15: 76,190,457 (GRCm39)	R102H	probably benign	Het
Or1x6	T	A	11: 50,939,090 (GRCm39)	I52N	probably benign	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or5g29	A	T	2: 85,421,184 (GRCm39)	Q100L	probably damaging	Het
Or6d13	A	G	6: 116,517,960 (GRCm39)	H182R	probably damaging	Het
Or8g20	C	A	9: 39,396,033 (GRCm39)	C172F	probably damaging	Het
Osgep	C	T	14: 51,162,128 (GRCm39)		probably benign	Het
Pam	A	T	1: 97,768,114 (GRCm39)	D705E	probably damaging	Het
Pkd1l3	C	G	8: 110,373,008 (GRCm39)	N1284K	probably damaging	Het
Plekhg2	A	G	7: 28,064,741 (GRCm39)	F407S	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rhobtb1	A	G	10: 69,084,720 (GRCm39)	N37S	probably damaging	Het
Sema6a	T	A	18: 47,424,972 (GRCm39)	D213V	probably damaging	Het
Skint11	A	T	4: 114,101,806 (GRCm39)	Q273L	possibly damaging	Het
Skint7	A	T	4: 111,839,426 (GRCm39)	H240L	probably benign	Het
Slc12a2	C	T	18: 58,054,944 (GRCm39)	Q862*	probably null	Het
Smox	A	G	2: 131,364,100 (GRCm39)	S468G	probably benign	Het
Spc25	A	G	2: 69,035,257 (GRCm39)	S50P	probably damaging	Het
Srrm1	A	T	4: 135,052,326 (GRCm39)	S683T	unknown	Het
Syne1	T	C	10: 5,220,970 (GRCm39)	E3103G	probably benign	Het
Tenm4	C	A	7: 96,378,553 (GRCm39)		probably benign	Het
Tent4b	T	A	8: 88,974,186 (GRCm39)	I294N	probably damaging	Het
Tmem123	T	C	9: 7,791,064 (GRCm39)	S122P	possibly damaging	Het
Trav18	A	T	14: 54,068,572 (GRCm39)	K4I	probably benign	Het
Triml1	T	C	8: 43,583,420 (GRCm39)	S394G	probably damaging	Het
Ubr4	A	T	4: 139,195,413 (GRCm39)	S1212C	unknown	Het
Usp34	G	A	11: 23,311,295 (GRCm39)	R442Q		Het
Usp43	G	A	11: 67,782,284 (GRCm39)	P378L	probably damaging	Het
Vmn1r212	A	G	13: 23,067,935 (GRCm39)	F133L	probably benign	Het
Vmn1r213	A	G	13: 23,195,910 (GRCm39)	I164M	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,998 (GRCm39)	P347S	probably damaging	Het
Zfp106	A	T	2: 120,355,000 (GRCm39)	V1280E	possibly damaging	Het
Zfp317	T	C	9: 19,553,265 (GRCm39)	S13P	probably benign	Het
Zfp608	C	A	18: 55,032,618 (GRCm39)	A441S	probably benign	Het
Zup1	T	C	10: 33,816,248 (GRCm39)	D232G	probably damaging	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
R4614:Pygl	UTSW	12	70,257,753 (GRCm39)	splice site	probably null
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
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'- TTGCTTAGTTCGCCAGAGAG -3'
(R):5'- AGATCAGCATCCGAGGCATC -3'

Sequencing Primer
(F):5'- CTTAGTTCGCCAGAGAGGGAAGC -3'
(R):5'- CATCGTGGGCGTAGAGAATGTG -3'

Posted On

2020-01-23