Mutagenetix > Incidental Mutations

Incidental Mutation 'R1686:Phkb'

189349

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

039719-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R1686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85840959-86061376 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86021649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 706 (I706V)

Ref Sequence

ENSEMBL: ENSMUSP00000050788 (fasta)

Gene Model

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

AlphaFold

Q7TSH2

Predicted Effect

probably benign
Transcript: ENSMUST00000053771
AA Change: I706V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: I706V

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

Predicted Effect

unknown
Transcript: ENSMUST00000160731
AA Change: I136V

SMART Domains

Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879
AA Change: I136V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (85/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	A	10: 100,612,860	V400I	probably damaging	Het
Abcb1b	A	G	5: 8,798,782	N14S	probably damaging	Het
Adamts14	A	G	10: 61,198,660	Y1150H	probably benign	Het
Adgrg3	A	G	8: 95,033,369	N72S	probably benign	Het
Akain1	T	A	17: 69,439,532	F3I	possibly damaging	Het
Akr1c21	T	C	13: 4,577,453	L182P	probably damaging	Het
Arhgap21	A	T	2: 20,881,848	Y12N	probably damaging	Het
Aup1	A	T	6: 83,055,245	H131L	probably damaging	Het
Bag6	A	G	17: 35,144,952	T812A	possibly damaging	Het
BC005561	T	A	5: 104,519,923	Y770*	probably null	Het
Bmp2k	A	G	5: 97,063,533	Y520C	unknown	Het
Calm4	T	G	13: 3,838,302	V136G	probably damaging	Het
Catsper2	A	G	2: 121,400,042		probably null	Het
Cc2d2a	A	G	5: 43,739,371	T1537A	possibly damaging	Het
Cntn2	A	T	1: 132,526,311	V319D	possibly damaging	Het
Cux1	G	A	5: 136,275,381	R1314*	probably null	Het
Cxcl12	A	G	6: 117,173,547	I79V	probably damaging	Het
Cyp2j6	T	C	4: 96,523,777	D418G	probably benign	Het
Ddx28	G	C	8: 106,010,558	D289E	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam135a	A	C	1: 24,029,806	S448A	probably benign	Het
Fbxo33	G	T	12: 59,204,840	N30K	possibly damaging	Het
Fgf12	A	C	16: 28,398,341	Y21D	probably damaging	Het
Galntl5	C	T	5: 25,210,434	S288L	probably benign	Het
Gart	G	T	16: 91,625,349	A760D	probably damaging	Het
Gba2	A	T	4: 43,573,869		probably benign	Het
Gm10518	C	A	1: 179,803,792	S139*	probably null	Het
Gm4781	A	T	10: 100,396,975		noncoding transcript	Het
Gm9790	A	G	3: 85,915,849		noncoding transcript	Het
Gmps	G	A	3: 63,985,654	G127R	probably damaging	Het
Golim4	A	T	3: 75,895,136	V283E	probably benign	Het
Gprc5a	A	T	6: 135,078,920	I122F	possibly damaging	Het
Gzmc	T	C	14: 56,233,884	K67E	probably benign	Het
Hapln3	C	A	7: 79,121,890	V84L	probably benign	Het
Hif3a	T	A	7: 17,044,864	N377Y	possibly damaging	Het
Ifi211	G	A	1: 173,899,403	H392Y	probably damaging	Het
Iqgap3	T	A	3: 88,108,356		probably benign	Het
Itga10	T	A	3: 96,651,825	F410Y	probably damaging	Het
Jup	T	C	11: 100,372,434	Y705C	probably damaging	Het
Khsrp	C	T	17: 57,025,597	A228T	probably benign	Het
Lmntd2	C	T	7: 141,211,085	G445D	probably damaging	Het
Lyst	T	C	13: 13,634,705	V320A	possibly damaging	Het
Magel2	T	A	7: 62,378,240	H297Q	possibly damaging	Het
Mbd6	T	C	10: 127,287,417	E33G	probably damaging	Het
Mob3b	A	G	4: 34,985,910		probably benign	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mroh2a	T	C	1: 88,234,612		probably null	Het
Mymk	A	T	2: 27,062,334	W174R	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Nipal3	T	C	4: 135,447,288	Y384C	possibly damaging	Het
Nt5c3b	A	G	11: 100,440,094		probably benign	Het
Obox6	T	A	7: 15,833,825	L232F	probably damaging	Het
Obscn	A	C	11: 59,106,287		probably benign	Het
Olfr834	T	C	9: 18,988,543	L185P	probably damaging	Het
Plcb2	A	G	2: 118,715,687		probably benign	Het
Plek2	T	C	12: 78,894,410	D216G	probably damaging	Het
Plxnb2	T	C	15: 89,162,462	Y855C	probably damaging	Het
Prkcz	T	C	4: 155,271,256	T227A	probably damaging	Het
Psma7	A	T	2: 180,037,422	D184E	probably benign	Het
Rai14	T	A	15: 10,592,196	L204F	probably damaging	Het
Ralgapa2	A	G	2: 146,358,000	V1208A	probably benign	Het
Rapgef6	A	G	11: 54,691,632	R67G	possibly damaging	Het
Ryr2	C	T	13: 11,603,779		probably benign	Het
Satb1	T	C	17: 51,739,999	S763G	probably benign	Het
Sdk1	A	T	5: 142,034,537	H690L	probably benign	Het
Sfrp5	A	C	19: 42,201,704	V103G	possibly damaging	Het
Six6	A	G	12: 72,941,677	E208G	probably benign	Het
Sspo	A	T	6: 48,460,400	H1364L	probably benign	Het
Stard9	A	T	2: 120,699,492	T2077S	probably benign	Het
Tacr3	T	C	3: 134,829,493	L74P	probably damaging	Het
Tep1	T	C	14: 50,836,788	E1880G	probably benign	Het
Tgfb3	A	T	12: 86,069,743		probably benign	Het
Thap7	G	A	16: 17,528,712	P136S	probably damaging	Het
Tmc2	T	C	2: 130,256,116	V717A	possibly damaging	Het
Usp43	T	A	11: 67,887,767	S446C	probably damaging	Het
Vwa3a	C	T	7: 120,780,148	S492L	probably damaging	Het
Wdhd1	T	A	14: 47,256,215	N16I	probably damaging	Het
Wdr95	A	T	5: 149,593,101	D327V	probably damaging	Het
Zfp128	T	G	7: 12,890,636	Y310*	probably null	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
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
R8811:Phkb	UTSW	8	86018527	missense	possibly damaging	0.58
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
X0021:Phkb	UTSW	8	86029635	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGACTTTGACTCAATCCCCAGCAC -3'
(R):5'- TTCTCTCAGAGGACACGAAGGCAC -3'

Sequencing Primer
(F):5'- AGAGCAGCTTGACTTTCTACG -3'
(R):5'- GCACACAGCCTGACTGAGAG -3'

Posted On

2014-05-14