Mutagenetix > Incidental Mutation

Incidental Mutation 'R4159:Phkb'

315660

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

041002-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R4159 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86567588-86788005 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 86748162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q7TSH2

Predicted Effect

probably null
Transcript: ENSMUST00000053771

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879

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

Predicted Effect

probably null
Transcript: ENSMUST00000053771

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879

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

Predicted Effect

probably null
Transcript: ENSMUST00000160731

SMART Domains

Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879

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

Predicted Effect

probably null
Transcript: ENSMUST00000160731

SMART Domains

Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

96% (45/47)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,466,806 (GRCm39)	D605A	probably damaging	Het
Adcy1	A	G	11: 7,013,889 (GRCm39)	H97R	probably damaging	Het
Amdhd1	A	G	10: 93,370,512 (GRCm39)	Y109H	probably damaging	Het
Ankhd1	A	G	18: 36,722,593 (GRCm39)	N372S	possibly damaging	Het
Aoc2	G	A	11: 101,216,122 (GRCm39)	M68I	probably damaging	Het
Aspscr1	G	A	11: 120,599,502 (GRCm39)	A377T	probably damaging	Het
Bltp1	T	A	3: 36,985,232 (GRCm39)	M854K	probably benign	Het
Bltp3a	A	G	17: 28,103,061 (GRCm39)	Y365C	probably damaging	Het
Cacnb1	G	C	11: 97,903,100 (GRCm39)	C154W	probably damaging	Het
Ccdc186	G	A	19: 56,781,924 (GRCm39)	R27*	probably null	Het
Clnk	C	A	5: 38,899,138 (GRCm39)		probably benign	Het
Dse	A	G	10: 34,029,330 (GRCm39)	F587L	probably damaging	Het
Fut8	T	C	12: 77,440,523 (GRCm39)	L170P	probably damaging	Het
G3bp2	T	C	5: 92,212,260 (GRCm39)	H217R	probably benign	Het
Gm19345	G	A	7: 19,588,886 (GRCm39)		probably benign	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Kcne4	A	G	1: 78,795,819 (GRCm39)	N156D	probably benign	Het
Met	G	T	6: 17,562,271 (GRCm39)		probably null	Het
Mfsd3	T	C	15: 76,585,945 (GRCm39)	L26P	probably damaging	Het
Oasl1	A	G	5: 115,075,073 (GRCm39)	K378E	possibly damaging	Het
Pde8a	A	G	7: 80,970,407 (GRCm39)	I510V	probably benign	Het
Pds5a	T	C	5: 65,821,839 (GRCm39)	T120A	possibly damaging	Het
Phf8-ps	G	A	17: 33,285,023 (GRCm39)	T593I	probably benign	Het
Ptprz1	A	T	6: 23,001,683 (GRCm39)	K1258*	probably null	Het
Senp7	C	A	16: 55,973,832 (GRCm39)	P351Q	possibly damaging	Het
Slc15a5	G	T	6: 138,049,938 (GRCm39)	T159K	possibly damaging	Het
Slc39a6	A	G	18: 24,730,885 (GRCm39)	V362A	possibly damaging	Het
Spef2	A	T	15: 9,676,407 (GRCm39)	D721E	probably damaging	Het
Sting1	A	T	18: 35,872,272 (GRCm39)	Y77N	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tnxb	A	G	17: 34,930,491 (GRCm39)	T2059A	probably damaging	Het
Ttll8	T	C	15: 88,801,444 (GRCm39)	N415D	probably benign	Het
Ube2d2a	A	T	18: 35,903,577 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,036,512 (GRCm39)		probably benign	Het
Ush2a	G	A	1: 188,460,907 (GRCm39)	V2723M	probably damaging	Het
Vmn2r102	T	A	17: 19,898,088 (GRCm39)	C368S	probably damaging	Het
Vmn2r3	G	A	3: 64,194,850 (GRCm39)	Q23*	probably null	Het

Other mutations in Phkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Phkb	APN	8	86,684,216 (GRCm39)	missense	probably benign	0.42
IGL01126:Phkb	APN	8	86,672,730 (GRCm39)	missense	probably benign	0.12
IGL01700:Phkb	APN	8	86,744,094 (GRCm39)	missense	probably benign	0.06
IGL01761:Phkb	APN	8	86,745,693 (GRCm39)	missense	probably benign	0.01
IGL02404:Phkb	APN	8	86,604,744 (GRCm39)	missense	possibly damaging	0.94
IGL02672:Phkb	APN	8	86,668,987 (GRCm39)	missense	probably benign
IGL02682:Phkb	APN	8	86,602,275 (GRCm39)	makesense	probably null
IGL02693:Phkb	APN	8	86,668,863 (GRCm39)	missense	probably damaging	1.00
IGL02798:Phkb	APN	8	86,770,406 (GRCm39)	missense	probably benign
IGL02888:Phkb	APN	8	86,662,101 (GRCm39)	critical splice donor site	probably null
IGL03106:Phkb	APN	8	86,745,095 (GRCm39)	splice site	probably benign
PIT4544001:Phkb	UTSW	8	86,738,266 (GRCm39)	missense	probably benign	0.42
R0088:Phkb	UTSW	8	86,669,020 (GRCm39)	critical splice donor site	probably null
R0107:Phkb	UTSW	8	86,743,560 (GRCm39)	missense	probably benign	0.01
R0504:Phkb	UTSW	8	86,783,153 (GRCm39)	missense	probably benign
R0569:Phkb	UTSW	8	86,744,031 (GRCm39)	missense	probably damaging	1.00
R0671:Phkb	UTSW	8	86,602,322 (GRCm39)	missense	probably damaging	0.97
R0894:Phkb	UTSW	8	86,744,070 (GRCm39)	missense	probably damaging	1.00
R1491:Phkb	UTSW	8	86,602,286 (GRCm39)	missense	possibly damaging	0.90
R1502:Phkb	UTSW	8	86,785,968 (GRCm39)	missense	possibly damaging	0.69
R1595:Phkb	UTSW	8	86,753,182 (GRCm39)	splice site	probably benign
R1686:Phkb	UTSW	8	86,748,278 (GRCm39)	missense	probably benign
R1913:Phkb	UTSW	8	86,628,549 (GRCm39)	missense	possibly damaging	0.95
R1919:Phkb	UTSW	8	86,648,790 (GRCm39)	missense	probably benign	0.17
R1968:Phkb	UTSW	8	86,697,580 (GRCm39)	missense	probably benign	0.07
R2008:Phkb	UTSW	8	86,783,096 (GRCm39)	missense	probably damaging	1.00
R2051:Phkb	UTSW	8	86,776,450 (GRCm39)	critical splice donor site	probably null
R2148:Phkb	UTSW	8	86,744,115 (GRCm39)	missense	probably damaging	0.96
R2305:Phkb	UTSW	8	86,770,431 (GRCm39)	missense	possibly damaging	0.80
R3801:Phkb	UTSW	8	86,648,858 (GRCm39)	nonsense	probably null
R3804:Phkb	UTSW	8	86,648,858 (GRCm39)	nonsense	probably null
R4624:Phkb	UTSW	8	86,575,341 (GRCm39)	intron	probably benign
R4833:Phkb	UTSW	8	86,628,540 (GRCm39)	missense	probably damaging	1.00
R5017:Phkb	UTSW	8	86,776,438 (GRCm39)	missense	probably benign
R5169:Phkb	UTSW	8	86,623,120 (GRCm39)	missense	probably benign	0.01
R5337:Phkb	UTSW	8	86,604,874 (GRCm39)	missense	probably damaging	1.00
R5391:Phkb	UTSW	8	86,744,097 (GRCm39)	missense	probably damaging	1.00
R5395:Phkb	UTSW	8	86,744,097 (GRCm39)	missense	probably damaging	1.00
R5480:Phkb	UTSW	8	86,648,811 (GRCm39)	missense	probably damaging	1.00
R5538:Phkb	UTSW	8	86,648,756 (GRCm39)	missense	possibly damaging	0.80
R5623:Phkb	UTSW	8	86,569,677 (GRCm39)	unclassified	probably benign
R5753:Phkb	UTSW	8	86,604,859 (GRCm39)	missense	probably damaging	1.00
R5909:Phkb	UTSW	8	86,748,076 (GRCm39)	critical splice donor site	probably null
R5929:Phkb	UTSW	8	86,697,543 (GRCm39)	missense	probably benign	0.01
R6093:Phkb	UTSW	8	86,668,958 (GRCm39)	missense	probably damaging	1.00
R6320:Phkb	UTSW	8	86,602,327 (GRCm39)	missense	probably benign	0.00
R6324:Phkb	UTSW	8	86,745,171 (GRCm39)	missense	probably benign	0.00
R6626:Phkb	UTSW	8	86,648,780 (GRCm39)	missense	probably damaging	0.96
R6687:Phkb	UTSW	8	86,756,175 (GRCm39)	missense	probably damaging	1.00
R6848:Phkb	UTSW	8	86,756,246 (GRCm39)	missense	probably damaging	0.99
R7228:Phkb	UTSW	8	86,569,636 (GRCm39)	unclassified	probably benign
R7260:Phkb	UTSW	8	86,604,759 (GRCm39)	missense	probably benign	0.07
R7271:Phkb	UTSW	8	86,770,418 (GRCm39)	missense	probably damaging	1.00
R7314:Phkb	UTSW	8	86,669,021 (GRCm39)	splice site	probably null
R7586:Phkb	UTSW	8	86,756,226 (GRCm39)	missense	probably damaging	1.00
R7654:Phkb	UTSW	8	86,667,516 (GRCm39)	missense	possibly damaging	0.91
R7958:Phkb	UTSW	8	86,748,292 (GRCm39)	missense	probably benign	0.00
R8269:Phkb	UTSW	8	86,756,211 (GRCm39)	missense	probably benign	0.42
R8811:Phkb	UTSW	8	86,745,156 (GRCm39)	missense	possibly damaging	0.58
R8967:Phkb	UTSW	8	86,756,063 (GRCm39)	intron	probably benign
R9176:Phkb	UTSW	8	86,697,623 (GRCm39)	missense	probably damaging	0.96
R9350:Phkb	UTSW	8	86,743,493 (GRCm39)	nonsense	probably null
R9465:Phkb	UTSW	8	86,623,059 (GRCm39)	missense	probably damaging	1.00
R9480:Phkb	UTSW	8	86,684,216 (GRCm39)	missense	probably benign	0.42
R9490:Phkb	UTSW	8	86,628,525 (GRCm39)	missense	probably damaging	0.97
R9700:Phkb	UTSW	8	86,567,696 (GRCm39)	missense	probably benign	0.01
R9708:Phkb	UTSW	8	86,783,119 (GRCm39)	missense	probably benign	0.02
R9716:Phkb	UTSW	8	86,604,798 (GRCm39)	missense	probably null	0.00
X0021:Phkb	UTSW	8	86,756,264 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGAGCAGAGAGTTTAGCTTGAC -3'
(R):5'- AGGTGTGATCATCTCTTGCTTAC -3'

Sequencing Primer
(F):5'- GAGAGTTTAGCTTGACAGATGTAAAC -3'
(R):5'- GTGATCATCTCTTGCTTACATTCAG -3'

Posted On

2015-05-14