Mutagenetix > Incidental Mutation

Incidental Mutation 'R8811:Phkb'

672411

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

068646-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R8811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85840959-86061376 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86018527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 611 (V611A)

Ref Sequence

ENSEMBL: ENSMUSP00000050788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053771]

AlphaFold

Q7TSH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053771
AA Change: V611A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: V611A

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	39	870	1.5e-111	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879
AA Change: V41A

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	26	301	2.2e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	G	17: 24,317,238	K485T	probably benign	Het
Abcc12	G	T	8: 86,553,394	L337M	probably damaging	Het
Adcy4	T	C	14: 55,772,764	D687G	probably benign	Het
Aldoc	T	A	11: 78,324,784	I98N	probably damaging	Het
Aoah	T	A	13: 20,999,951	V395D	probably damaging	Het
Arap1	C	T	7: 101,387,196	R397W	probably damaging	Het
Arl16	A	T	11: 120,466,700	M63K	probably damaging	Het
Atf7	T	C	15: 102,593,709	D4G	probably damaging	Het
Atp6v0d2	A	T	4: 19,922,397	V34D	probably benign	Het
Camk1g	C	G	1: 193,362,100	G2A	probably damaging	Het
Cenpe	A	G	3: 135,223,240	T302A	probably damaging	Het
Cps1	T	C	1: 67,214,087	V1246A	probably benign	Het
Csmd3	T	C	15: 47,696,743	D1397G		Het
Ddx39b	T	A	17: 35,244,459	S115T	probably benign	Het
Dnaja3	C	A	16: 4,696,519	T305K	probably benign	Het
Dusp7	C	G	9: 106,371,042	H290D	probably benign	Het
Emilin2	T	A	17: 71,275,287	D148V	possibly damaging	Het
Erbin	C	T	13: 103,886,316	R5Q	probably damaging	Het
Fam26d	T	A	10: 34,041,665	K263N	probably benign	Het
Fam3b	T	C	16: 97,512,515		probably benign	Het
Foxn3	T	C	12: 99,196,692	S317G	probably benign	Het
Gipc1	T	A	8: 83,662,290	M177K	possibly damaging	Het
Grpel2	A	C	18: 61,718,752		probably benign	Het
Htr1a	G	C	13: 105,444,593	A114P	probably damaging	Het
Iqch	A	T	9: 63,544,913	M210K	possibly damaging	Het
Kdelr3	T	C	15: 79,525,851	I179T	possibly damaging	Het
Lat2	C	T	5: 134,606,699		probably benign	Het
Mcrip1	A	G	11: 120,544,779	V10A	probably damaging	Het
Mib1	C	T	18: 10,755,643	L350F	probably benign	Het
Nhlrc2	T	A	19: 56,594,912	V605E	probably benign	Het
Nup133	AAGAGA	AAGA	8: 123,911,888	900	probably null	Het
Nutm2	A	T	13: 50,469,953	I229F	probably benign	Het
Olfr308	G	A	7: 86,321,781	T57M	probably damaging	Het
Polg2	A	T	11: 106,779,382	Y21N	probably benign	Het
Prss28	T	A	17: 25,309,653	I23N	probably benign	Het
Ptprz1	G	A	6: 23,030,662	V1856I	probably benign	Het
Slc22a22	A	T	15: 57,244,841	I526N	probably damaging	Het
Slc24a4	T	C	12: 102,213,874	F68S	probably damaging	Het
Slc37a3	A	G	6: 39,345,340	S377P	probably damaging	Het
Smoc2	T	C	17: 14,325,634	S62P	probably damaging	Het
Sox4	A	G	13: 28,952,928	S32P	probably damaging	Het
Stxbp2	A	T	8: 3,639,541	Q426L		Het
Synrg	T	G	11: 84,019,584	S937A	probably benign	Het
Tbr1	C	A	2: 61,811,852	T487K	possibly damaging	Het
Tll2	T	C	19: 41,206,573	T25A	probably benign	Het
Trim31	T	C	17: 36,899,983	F169S	probably benign	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Tspear	T	C	10: 77,829,629	F83S	probably benign	Het
Ubr5	C	A	15: 38,040,879	A254S		Het
Ubtfl1	A	G	9: 18,410,163	E329G	probably benign	Het
Vmn2r45	A	G	7: 8,471,882	W716R	probably damaging	Het
Vmn2r67	T	C	7: 85,150,687	M448V	probably damaging	Het
Wwc2	T	G	8: 47,883,544	I228L	possibly damaging	Het
Zbtb20	T	C	16: 43,610,494	V383A	probably benign	Het

Other mutations in Phkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Phkb	APN	8	85957587	missense	probably benign	0.42
IGL01126:Phkb	APN	8	85946101	missense	probably benign	0.12
IGL01700:Phkb	APN	8	86017465	missense	probably benign	0.06
IGL01761:Phkb	APN	8	86019064	missense	probably benign	0.01
IGL02404:Phkb	APN	8	85878115	missense	possibly damaging	0.94
IGL02672:Phkb	APN	8	85942358	missense	probably benign
IGL02682:Phkb	APN	8	85875646	makesense	probably null
IGL02693:Phkb	APN	8	85942234	missense	probably damaging	1.00
IGL02798:Phkb	APN	8	86043777	missense	probably benign
IGL02888:Phkb	APN	8	85935472	critical splice donor site	probably null
IGL03106:Phkb	APN	8	86018466	splice site	probably benign
PIT4544001:Phkb	UTSW	8	86011637	missense	probably benign	0.42
R0088:Phkb	UTSW	8	85942391	critical splice donor site	probably null
R0107:Phkb	UTSW	8	86016931	missense	probably benign	0.01
R0504:Phkb	UTSW	8	86056524	missense	probably benign
R0569:Phkb	UTSW	8	86017402	missense	probably damaging	1.00
R0671:Phkb	UTSW	8	85875693	missense	probably damaging	0.97
R0894:Phkb	UTSW	8	86017441	missense	probably damaging	1.00
R1491:Phkb	UTSW	8	85875657	missense	possibly damaging	0.90
R1502:Phkb	UTSW	8	86059339	missense	possibly damaging	0.69
R1595:Phkb	UTSW	8	86026553	splice site	probably benign
R1686:Phkb	UTSW	8	86021649	missense	probably benign
R1913:Phkb	UTSW	8	85901920	missense	possibly damaging	0.95
R1919:Phkb	UTSW	8	85922161	missense	probably benign	0.17
R1968:Phkb	UTSW	8	85970951	missense	probably benign	0.07
R2008:Phkb	UTSW	8	86056467	missense	probably damaging	1.00
R2051:Phkb	UTSW	8	86049821	critical splice donor site	probably null
R2148:Phkb	UTSW	8	86017486	missense	probably damaging	0.96
R2305:Phkb	UTSW	8	86043802	missense	possibly damaging	0.80
R3801:Phkb	UTSW	8	85922229	nonsense	probably null
R3804:Phkb	UTSW	8	85922229	nonsense	probably null
R4159:Phkb	UTSW	8	86021533	splice site	probably null
R4624:Phkb	UTSW	8	85848712	intron	probably benign
R4833:Phkb	UTSW	8	85901911	missense	probably damaging	1.00
R5017:Phkb	UTSW	8	86049809	missense	probably benign
R5169:Phkb	UTSW	8	85896491	missense	probably benign	0.01
R5337:Phkb	UTSW	8	85878245	missense	probably damaging	1.00
R5391:Phkb	UTSW	8	86017468	missense	probably damaging	1.00
R5395:Phkb	UTSW	8	86017468	missense	probably damaging	1.00
R5480:Phkb	UTSW	8	85922182	missense	probably damaging	1.00
R5538:Phkb	UTSW	8	85922127	missense	possibly damaging	0.80
R5623:Phkb	UTSW	8	85843048	unclassified	probably benign
R5753:Phkb	UTSW	8	85878230	missense	probably damaging	1.00
R5909:Phkb	UTSW	8	86021447	critical splice donor site	probably null
R5929:Phkb	UTSW	8	85970914	missense	probably benign	0.01
R6093:Phkb	UTSW	8	85942329	missense	probably damaging	1.00
R6320:Phkb	UTSW	8	85875698	missense	probably benign	0.00
R6324:Phkb	UTSW	8	86018542	missense	probably benign	0.00
R6626:Phkb	UTSW	8	85922151	missense	probably damaging	0.96
R6687:Phkb	UTSW	8	86029546	missense	probably damaging	1.00
R6848:Phkb	UTSW	8	86029617	missense	probably damaging	0.99
R7228:Phkb	UTSW	8	85843007	unclassified	probably benign
R7260:Phkb	UTSW	8	85878130	missense	probably benign	0.07
R7271:Phkb	UTSW	8	86043789	missense	probably damaging	1.00
R7314:Phkb	UTSW	8	85942392	splice site	probably null
R7586:Phkb	UTSW	8	86029597	missense	probably damaging	1.00
R7654:Phkb	UTSW	8	85940887	missense	possibly damaging	0.91
R7958:Phkb	UTSW	8	86021663	missense	probably benign	0.00
R8269:Phkb	UTSW	8	86029582	missense	probably benign	0.42
R8967:Phkb	UTSW	8	86029434	intron	probably benign
R9176:Phkb	UTSW	8	85970994	missense	probably damaging	0.96
R9350:Phkb	UTSW	8	86016864	nonsense	probably null
R9465:Phkb	UTSW	8	85896430	missense	probably damaging	1.00
R9480:Phkb	UTSW	8	85957587	missense	probably benign	0.42
R9490:Phkb	UTSW	8	85901896	missense	probably damaging	0.97
R9700:Phkb	UTSW	8	85841067	missense	probably benign	0.01
R9708:Phkb	UTSW	8	86056490	missense	probably benign	0.02
R9716:Phkb	UTSW	8	85878169	missense	probably null	0.00
X0021:Phkb	UTSW	8	86029635	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGCCTAAATTACCCAGAGTTTG -3'
(R):5'- GGCTCAGCCTTCAAGTTTTCTG -3'

Sequencing Primer
(F):5'- CCTCTCAGTTAAGGATCCCA -3'
(R):5'- TCCATAGGTGAGCATGGGATCC -3'

Posted On

2021-04-30