Mutagenetix > Incidental Mutations

Incidental Mutation 'R4833:Phkb'

372993

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

042449-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85840959-86061376 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85901911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 183 (V183E)

Ref Sequence

ENSEMBL: ENSMUSP00000124939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053771] [ENSMUST00000160611] [ENSMUST00000161850]

AlphaFold

Q7TSH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000053771
AA Change: V175E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: V175E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159882

Predicted Effect

probably benign
Transcript: ENSMUST00000160611

SMART Domains

Protein: ENSMUSP00000125690
Gene: ENSMUSG00000036879

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	39	164	3.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161850
AA Change: V183E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124939
Gene: ENSMUSG00000036879
AA Change: V183E

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	47	206	3.9e-40	PFAM

Meta Mutation Damage Score

0.4046

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,872	T153K	possibly damaging	Het
4932438A13Rik	A	G	3: 36,964,968	I2007V	probably damaging	Het
Abca5	A	C	11: 110,279,316	Y1318D	probably benign	Het
Adam18	A	G	8: 24,674,101	I22T	probably benign	Het
Adgrv1	T	A	13: 81,560,844	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,043,857		probably null	Het
Bdkrb2	T	C	12: 105,591,658	W53R	probably benign	Het
Blm	T	A	7: 80,466,826	I1111L	probably benign	Het
Bmp3	T	G	5: 98,855,207	L32R	probably damaging	Het
Cdh23	T	G	10: 60,385,038	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,752,258	T560M	probably benign	Het
Cmtm8	C	A	9: 114,796,165	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,529,602	V252E	unknown	Het
Col6a4	A	T	9: 106,071,979	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783	S372P	probably benign	Het
Daam2	A	T	17: 49,490,145	I204N	possibly damaging	Het
Dock6	T	C	9: 21,844,280	D216G	probably damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Erich2	T	C	2: 70,534,292	Y311H	possibly damaging	Het
Gm3985	A	G	8: 32,890,477		noncoding transcript	Het
Gnb1	A	G	4: 155,543,067	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,709,146	A204V	probably null	Het
Hnrnpu	T	C	1: 178,333,894		probably benign	Het
Htt	A	G	5: 34,852,225	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,957,139	D223V	probably damaging	Het
Kpna6	A	G	4: 129,657,779	S71P	possibly damaging	Het
Lama3	A	G	18: 12,441,131	D590G	probably benign	Het
Lipt1	T	G	1: 37,875,529	L222R	probably damaging	Het
Lrrc41	A	G	4: 116,093,177		probably benign	Het
Lrrc59	T	C	11: 94,634,672	V98A	probably benign	Het
Mast4	A	G	13: 102,774,184		probably null	Het
Mdc1	C	T	17: 35,850,394	S733F	probably benign	Het
Mknk1	C	T	4: 115,878,186		probably benign	Het
Mtmr7	A	G	8: 40,590,462	F141S	probably damaging	Het
Myo15b	A	G	11: 115,887,602	D1G	possibly damaging	Het
Odf3	T	C	7: 140,848,278	M1T	probably null	Het
Olfr1356	T	G	10: 78,847,575	L113F	probably damaging	Het
Pola2	T	C	19: 5,953,864	Y161C	probably damaging	Het
Psen1	G	A	12: 83,731,778	V412I	probably benign	Het
Psmc4	C	A	7: 28,047,512	G77V	probably damaging	Het
Psmd3	A	G	11: 98,687,760	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653	M84K	probably damaging	Het
Rab44	A	C	17: 29,136,337	Q19P	probably damaging	Het
Rbks	A	G	5: 31,624,515	Y314H	probably benign	Het
Rftn2	T	C	1: 55,214,240	D68G	possibly damaging	Het
Rims2	T	A	15: 39,535,914	S838R	probably damaging	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Slfn14	A	G	11: 83,279,156	L554P	probably damaging	Het
Spink2	G	T	5: 77,205,392	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Taar8b	A	T	10: 24,092,132	S55T	possibly damaging	Het
Tbca	A	G	13: 94,832,410	E35G	probably benign	Het
Tmc5	C	A	7: 118,628,829	H307Q	probably benign	Het
Tmem169	A	G	1: 72,298,152	D82G	probably benign	Het
Tmem72	T	C	6: 116,698,358	T58A	probably benign	Het
Ttc7	C	T	17: 87,334,321	P449S	probably damaging	Het
Ttf2	T	C	3: 100,961,406	E449G	probably benign	Het
Ubr4	C	A	4: 139,402,546	T659K	probably damaging	Het
Wdr1	A	G	5: 38,547,029	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,239,052	Y88H	probably benign	Het
Zfp384	A	T	6: 125,030,848	H247L	probably damaging	Het
Zfp526	C	T	7: 25,225,870	A518V	probably damaging	Het
Zfp788	T	A	7: 41,647,568	H47Q	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
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
X0021:Phkb	UTSW	8	86029635	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGCTTCCATTAGGTTCATT -3'
(R):5'- TGAAACCATTCATTTCATACACCAAA -3'

Sequencing Primer
(F):5'- CTGACACTATTGGAGAAAATG -3'
(R):5'- GGAAAAATCAGATATCTCTACATG -3'

Posted On

2016-03-01