Mutagenetix > Incidental Mutation

Incidental Mutation 'R0894:Phkb'

83668

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

039057-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R0894 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86567588-86788005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86744070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 573 (D573V)

Ref Sequence

ENSEMBL: ENSMUSP00000050788 (fasta)

Gene Model

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

AlphaFold

Q7TSH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000053771
AA Change: D573V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: D573V

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

Predicted Effect

unknown
Transcript: ENSMUST00000160731
AA Change: D3V

SMART Domains

Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879
AA Change: D3V

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

Meta Mutation Damage Score

0.9443

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

97% (102/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,726 (GRCm39)	S1044G	probably benign	Het
Aanat	A	G	11: 116,487,730 (GRCm39)	H143R	probably benign	Het
Abca8a	A	G	11: 109,941,792 (GRCm39)	I1159T	probably benign	Het
Abcb1a	G	T	5: 8,724,856 (GRCm39)		probably benign	Het
Abcc1	T	C	16: 14,283,001 (GRCm39)	V1159A	possibly damaging	Het
Akr1e1	T	A	13: 4,645,071 (GRCm39)	Q204L	probably damaging	Het
Alk	T	C	17: 72,202,930 (GRCm39)	Y1135C	probably damaging	Het
Atad2b	C	T	12: 5,015,915 (GRCm39)	T547I	probably damaging	Het
Brd10	T	C	19: 29,697,974 (GRCm39)		probably benign	Het
C030005K15Rik	A	T	10: 97,561,648 (GRCm39)	S28T	unknown	Het
Cdk5rap3	A	G	11: 96,799,654 (GRCm39)	L387P	probably damaging	Het
Cfap95	T	C	19: 23,630,062 (GRCm39)	E10G	unknown	Het
Cfap96	A	G	8: 46,409,497 (GRCm39)	F274S	probably damaging	Het
Clec4f	T	A	6: 83,629,979 (GRCm39)	N193I	probably damaging	Het
Col4a4	A	T	1: 82,507,377 (GRCm39)		probably null	Het
Cplx4	T	G	18: 66,090,116 (GRCm39)	D101A	possibly damaging	Het
Cpne8	A	T	15: 90,533,474 (GRCm39)	D50E	probably damaging	Het
Csmd3	G	T	15: 47,721,316 (GRCm39)	D1542E	possibly damaging	Het
Ctdp1	A	G	18: 80,512,736 (GRCm39)	V9A	probably benign	Het
Ctnnd2	A	T	15: 30,332,301 (GRCm39)		probably benign	Het
Cyp7b1	C	T	3: 18,151,674 (GRCm39)	A180T	probably benign	Het
Dcun1d5	C	T	9: 7,203,379 (GRCm39)		probably benign	Het
Dgat1	G	T	15: 76,387,199 (GRCm39)	L363I	possibly damaging	Het
Dipk2b	T	A	X: 18,289,791 (GRCm39)	I224F	possibly damaging	Het
Dlg1	T	A	16: 31,561,965 (GRCm39)	H120Q	probably benign	Het
Dnah6	T	C	6: 73,101,740 (GRCm39)	N1928S	probably benign	Het
Dnai4	T	C	4: 102,906,583 (GRCm39)		probably benign	Het
Dync2h1	A	T	9: 7,041,734 (GRCm39)		probably benign	Het
Ednra	T	G	8: 78,446,649 (GRCm39)		probably benign	Het
Efcab6	A	T	15: 83,802,493 (GRCm39)	C845S	probably benign	Het
Egln1	A	T	8: 125,642,435 (GRCm39)	C303S	probably damaging	Het
Eomes	T	C	9: 118,311,368 (GRCm39)		probably null	Het
Epha1	A	G	6: 42,340,756 (GRCm39)	V568A	probably benign	Het
Ercc6	T	A	14: 32,238,985 (GRCm39)	N24K	probably benign	Het
Esco2	T	C	14: 66,064,726 (GRCm39)	Q338R	probably benign	Het
Fbxo46	T	C	7: 18,869,654 (GRCm39)	V91A	probably damaging	Het
Fryl	A	T	5: 73,198,675 (GRCm39)		probably benign	Het
Gab3	A	C	X: 74,077,024 (GRCm39)	D43E	probably damaging	Het
Gltpd2	T	A	11: 70,410,535 (GRCm39)		probably benign	Het
Gm17333	G	T	16: 77,649,711 (GRCm39)		noncoding transcript	Het
Gm7353	T	C	7: 3,160,570 (GRCm39)		noncoding transcript	Het
Grik4	T	C	9: 42,599,405 (GRCm39)		probably benign	Het
Gtpbp2	G	T	17: 46,476,895 (GRCm39)	A358S	possibly damaging	Het
Hyls1	C	T	9: 35,472,528 (GRCm39)	C296Y	probably damaging	Het
Igf2r	C	T	17: 12,910,988 (GRCm39)	M1943I	probably benign	Het
Iqca1l	T	C	5: 24,755,731 (GRCm39)		probably null	Het
Ireb2	T	A	9: 54,803,861 (GRCm39)	N517K	probably damaging	Het
Itga10	A	G	3: 96,560,976 (GRCm39)	S614G	possibly damaging	Het
Kdm2b	A	G	5: 123,122,523 (GRCm39)		probably null	Het
Kif17	T	C	4: 138,025,542 (GRCm39)	M948T	possibly damaging	Het
Klhl33	A	T	14: 51,129,583 (GRCm39)	N347K	probably damaging	Het
Llph	T	A	10: 120,064,086 (GRCm39)	C67*	probably null	Het
Lrrn3	T	C	12: 41,504,033 (GRCm39)	T95A	probably damaging	Het
Map3k12	C	A	15: 102,410,613 (GRCm39)	A455S	probably damaging	Het
Mex3d	T	C	10: 80,217,376 (GRCm39)	T149A	probably benign	Het
Myo7b	A	G	18: 32,133,123 (GRCm39)	W409R	probably damaging	Het
Nbea	A	G	3: 55,916,761 (GRCm39)	M833T	possibly damaging	Het
Ncapg	A	G	5: 45,837,236 (GRCm39)	T436A	probably null	Het
Nkx1-2	C	A	7: 132,201,042 (GRCm39)	D72Y	probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2d3b	T	A	7: 106,514,317 (GRCm39)	I304K	probably benign	Het
Or6c217	T	A	10: 129,737,751 (GRCm39)	N276I	probably damaging	Het
Pcdh15	A	G	10: 74,460,087 (GRCm39)	Y1308C	probably damaging	Het
Pcnx2	A	G	8: 126,613,665 (GRCm39)		probably benign	Het
Pcsk1	G	A	13: 75,246,096 (GRCm39)	G158D	probably damaging	Het
Pik3r4	A	G	9: 105,544,970 (GRCm39)	K150E	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Ppp4r4	C	T	12: 103,566,754 (GRCm39)	A67V	probably damaging	Het
Prex2	A	G	1: 11,252,122 (GRCm39)	T1056A	probably benign	Het
Prkca	A	T	11: 107,903,518 (GRCm39)	Y285N	possibly damaging	Het
Psd	T	C	19: 46,301,880 (GRCm39)	E903G	probably damaging	Het
Psg19	T	C	7: 18,527,987 (GRCm39)	E252G	probably benign	Het
Psg20	T	A	7: 18,414,969 (GRCm39)	K306*	probably null	Het
Pygl	T	G	12: 70,241,148 (GRCm39)		probably benign	Het
Rasgrf2	A	G	13: 92,130,890 (GRCm39)	S724P	probably damaging	Het
Reck	C	A	4: 43,922,967 (GRCm39)	A414D	probably damaging	Het
Scn10a	C	A	9: 119,459,213 (GRCm39)	V1150L	probably damaging	Het
Shc2	A	T	10: 79,465,751 (GRCm39)	I187N	probably damaging	Het
Sipa1l3	T	A	7: 29,086,716 (GRCm39)	K625*	probably null	Het
Slc44a4	T	C	17: 35,147,466 (GRCm39)	L583P	possibly damaging	Het
Slc5a11	G	C	7: 122,857,643 (GRCm39)	R244P	possibly damaging	Het
Slfn8	T	A	11: 82,894,407 (GRCm39)	Q744L	probably benign	Het
Snx2	G	T	18: 53,309,488 (GRCm39)	V13L	probably benign	Het
Spmip5	A	T	19: 58,776,015 (GRCm39)	L138Q	probably damaging	Het
Spsb1	C	T	4: 149,990,872 (GRCm39)		probably null	Het
Stfa2l1	A	T	16: 35,977,228 (GRCm39)	I8L	probably benign	Het
Svil	G	T	18: 5,097,494 (GRCm39)	R1659L	probably damaging	Het
Tbccd1	A	T	16: 22,640,995 (GRCm39)	L461M	probably benign	Het
Tmem9	A	T	1: 135,961,926 (GRCm39)	T174S	possibly damaging	Het
Tnks2	T	C	19: 36,867,450 (GRCm39)		probably null	Het
Tnrc18	C	A	5: 142,800,869 (GRCm39)	V30L	probably benign	Het
Tomm7	A	G	5: 24,049,025 (GRCm39)	F16S	probably damaging	Het
Ttf2	A	G	3: 100,876,865 (GRCm39)		probably benign	Het
Ubr7	C	A	12: 102,735,450 (GRCm39)	T303N	probably damaging	Het
Ushbp1	A	T	8: 71,842,868 (GRCm39)		probably null	Het
Vmn1r177	C	A	7: 23,565,475 (GRCm39)	V134F	probably benign	Het
Vmn2r12	A	G	5: 109,235,716 (GRCm39)		probably null	Het
Vmn2r53	T	G	7: 12,335,141 (GRCm39)	H173P	probably benign	Het
Yars1	A	T	4: 129,090,948 (GRCm39)	M119L	probably damaging	Het
Zcrb1	A	T	15: 93,295,038 (GRCm39)		probably benign	Het
Zfp267	T	A	3: 36,218,935 (GRCm39)	Y319*	probably null	Het
Zfp319	C	A	8: 96,056,250 (GRCm39)		probably benign	Het
Zfp783	C	G	6: 47,920,320 (GRCm39)		noncoding transcript	Het
Zfyve26	A	G	12: 79,320,372 (GRCm39)	I1024T	possibly damaging	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
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
R4159:Phkb	UTSW	8	86,748,162 (GRCm39)	splice site	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'- TGCCTTGGTACATCAAAGGTGAGTG -3'
(R):5'- GTGTAACCTAGCATCATGGACACCC -3'

Sequencing Primer
(F):5'- CATGCAGAATCATGCTTGGC -3'
(R):5'- TGGACACCCAGGAATCCTC -3'

Posted On

2013-11-08