Mutagenetix > Incidental Mutation

Incidental Mutation 'R4082:Pygb'

316920

Institutional Source

Beutler Lab

Gene Symbol

Pygb

Ensembl Gene

ENSMUSG00000033059

Gene Name

brain glycogen phosphorylase

Synonyms

MMRRC Submission

041624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R4082 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150628716-150673668 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 150668391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045441]

AlphaFold

Q8CI94

Predicted Effect

probably null
Transcript: ENSMUST00000045441

SMART Domains

Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135717

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	G	19: 24,043,366 (GRCm39)		noncoding transcript	Het
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Abca12	G	T	1: 71,306,622 (GRCm39)	T2028K	possibly damaging	Het
Abt1	T	C	13: 23,606,316 (GRCm39)	T213A	probably benign	Het
Adcy1	A	C	11: 7,014,117 (GRCm39)	Y173S	probably damaging	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Akr1d1	G	A	6: 37,534,424 (GRCm39)	V193M	probably damaging	Het
Cars1	C	T	7: 143,123,234 (GRCm39)	E461K	probably damaging	Het
Ccdc80	T	C	16: 44,943,290 (GRCm39)	L800P	probably damaging	Het
Ccl22	A	G	8: 95,473,536 (GRCm39)	Y27C	probably damaging	Het
Cdc123	G	A	2: 5,815,566 (GRCm39)		probably benign	Het
Cldn11	A	T	3: 31,217,278 (GRCm39)	I149F	probably benign	Het
Col14a1	T	C	15: 55,300,429 (GRCm39)	Y986H	unknown	Het
Col6a3	G	A	1: 90,749,605 (GRCm39)	L410F	probably damaging	Het
Crocc	T	C	4: 140,761,282 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,433,374 (GRCm39)		probably benign	Het
Cwc25	G	T	11: 97,644,744 (GRCm39)	Q205K	probably benign	Het
Cyp2e1	T	C	7: 140,350,991 (GRCm39)	I321T	possibly damaging	Het
Eps8l1	T	A	7: 4,473,797 (GRCm39)		probably null	Het
Fasl	C	T	1: 161,609,420 (GRCm39)	V189M	probably damaging	Het
Fbxw5	T	C	2: 25,394,643 (GRCm39)		probably null	Het
Flg2	A	C	3: 93,110,828 (GRCm39)	E952A	unknown	Het
Gpd1l	A	T	9: 114,746,146 (GRCm39)	L90Q	probably damaging	Het
Grik4	G	T	9: 42,509,180 (GRCm39)	F414L	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl3	C	T	13: 58,166,611 (GRCm39)	G407S	probably null	Het
Lmbr1	T	C	5: 29,463,753 (GRCm39)	E157G	probably damaging	Het
Lrp2	T	A	2: 69,343,617 (GRCm39)	H914L	probably damaging	Het
Mrpl20	A	T	4: 155,892,970 (GRCm39)	D67V	probably damaging	Het
Myo15a	A	G	11: 60,378,022 (GRCm39)	T1346A	possibly damaging	Het
Naip5	A	T	13: 100,382,338 (GRCm39)	C124S	probably damaging	Het
Or10ag2	T	A	2: 87,248,801 (GRCm39)	Y134*	probably null	Het
Or13n4	T	C	7: 106,423,245 (GRCm39)	T163A	possibly damaging	Het
Or52u1	T	A	7: 104,237,830 (GRCm39)	V290D	probably damaging	Het
Osbp	A	G	19: 11,956,030 (GRCm39)	D385G	probably benign	Het
Paip1	G	A	13: 119,593,540 (GRCm39)	D460N	probably damaging	Het
Pde3b	T	C	7: 114,093,823 (GRCm39)	S356P	probably benign	Het
Pms2	A	G	5: 143,867,837 (GRCm39)	M814V	probably damaging	Het
Polg	C	A	7: 79,114,576 (GRCm39)	K128N	probably damaging	Het
Polk	G	T	13: 96,620,181 (GRCm39)	T694K	probably benign	Het
Pom121	T	C	5: 135,417,491 (GRCm39)	K342R	unknown	Het
Pou5f2	T	C	13: 78,174,024 (GRCm39)	L322P	probably damaging	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Ptpn6	T	C	6: 124,705,382 (GRCm39)	D183G	probably damaging	Het
Ralgds	C	T	2: 28,442,283 (GRCm39)		probably benign	Het
Ret	T	C	6: 118,130,927 (GRCm39)	T1079A	possibly damaging	Het
Rspo2	A	C	15: 42,885,933 (GRCm39)	V241G	probably benign	Het
Smg1	T	A	7: 117,759,469 (GRCm39)		probably benign	Het
Snph	T	C	2: 151,435,722 (GRCm39)	D402G	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sufu	A	G	19: 46,413,541 (GRCm39)	M141V	probably damaging	Het
Sytl2	T	A	7: 90,057,635 (GRCm39)	V831D	possibly damaging	Het
Tc2n	T	C	12: 101,617,414 (GRCm39)	E335G	possibly damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tmcc1	T	A	6: 116,020,441 (GRCm39)	H118L	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vmn1r209	A	C	13: 22,989,785 (GRCm39)	L302V	probably null	Het
Vmn2r117	C	T	17: 23,679,080 (GRCm39)	V715I	probably benign	Het
Vopp1	A	T	6: 57,766,964 (GRCm39)	Y37*	probably null	Het
Xrn1	A	G	9: 95,863,973 (GRCm39)	T528A	probably benign	Het
Zfhx2	T	C	14: 55,302,662 (GRCm39)	D1774G	probably benign	Het
Zfp955b	T	A	17: 33,521,129 (GRCm39)	D199E	probably benign	Het
Zp2	T	C	7: 119,734,475 (GRCm39)	S525G	probably benign	Het

Other mutations in Pygb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Pygb	APN	2	150,661,833 (GRCm39)	missense	probably benign	0.00
IGL01395:Pygb	APN	2	150,643,503 (GRCm39)	missense	probably benign	0.04
IGL01571:Pygb	APN	2	150,672,393 (GRCm39)	missense	probably benign	0.00
IGL01960:Pygb	APN	2	150,655,403 (GRCm39)	missense	probably benign	0.00
IGL03118:Pygb	APN	2	150,662,731 (GRCm39)	missense	probably benign	0.01
R0106:Pygb	UTSW	2	150,648,123 (GRCm39)	missense	probably benign	0.02
R0106:Pygb	UTSW	2	150,648,123 (GRCm39)	missense	probably benign	0.02
R0423:Pygb	UTSW	2	150,665,904 (GRCm39)	missense	probably benign
R0545:Pygb	UTSW	2	150,657,626 (GRCm39)	missense	probably benign	0.00
R0674:Pygb	UTSW	2	150,657,054 (GRCm39)	splice site	probably null
R1052:Pygb	UTSW	2	150,628,858 (GRCm39)	missense	probably benign	0.00
R1590:Pygb	UTSW	2	150,659,583 (GRCm39)	missense	possibly damaging	0.94
R1706:Pygb	UTSW	2	150,669,067 (GRCm39)	missense	probably damaging	1.00
R1786:Pygb	UTSW	2	150,658,692 (GRCm39)	missense	probably damaging	0.98
R2405:Pygb	UTSW	2	150,662,695 (GRCm39)	missense	probably benign	0.04
R3522:Pygb	UTSW	2	150,670,473 (GRCm39)	missense	probably benign	0.07
R4319:Pygb	UTSW	2	150,657,534 (GRCm39)	splice site	probably benign
R4662:Pygb	UTSW	2	150,657,036 (GRCm39)	missense	probably benign
R5072:Pygb	UTSW	2	150,643,498 (GRCm39)	missense	probably damaging	1.00
R5665:Pygb	UTSW	2	150,662,808 (GRCm39)	splice site	probably null
R5874:Pygb	UTSW	2	150,628,798 (GRCm39)	missense	probably benign	0.11
R5910:Pygb	UTSW	2	150,657,620 (GRCm39)	missense	probably benign	0.00
R6610:Pygb	UTSW	2	150,665,886 (GRCm39)	splice site	probably null
R6820:Pygb	UTSW	2	150,658,674 (GRCm39)	missense	possibly damaging	0.88
R7348:Pygb	UTSW	2	150,628,903 (GRCm39)	missense	probably benign	0.10
R7920:Pygb	UTSW	2	150,628,922 (GRCm39)	missense	possibly damaging	0.92
R7936:Pygb	UTSW	2	150,657,589 (GRCm39)	missense	probably benign	0.28
R9226:Pygb	UTSW	2	150,662,781 (GRCm39)	missense	possibly damaging	0.58
R9308:Pygb	UTSW	2	150,668,297 (GRCm39)	missense	probably benign	0.15
R9618:Pygb	UTSW	2	150,657,008 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AAGTGTCACTGAGTGCTCCC -3'
(R):5'- AAGAATGACGCTGGCTCTGC -3'

Sequencing Primer
(F):5'- GGACCCTTTTTGGAACCTGAAC -3'
(R):5'- TGCCTATCATGTGCAAAGGC -3'

Posted On

2015-05-15