Mutagenetix > Incidental Mutations

Incidental Mutation 'R1919:Phkb'

212847

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

039937-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85840959-86061376 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85922161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 202 (E202G)

Ref Sequence

ENSEMBL: ENSMUSP00000050788 (fasta)

Gene Model

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

AlphaFold

Q7TSH2

Predicted Effect

probably benign
Transcript: ENSMUST00000053771
AA Change: E202G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: E202G

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 benign
Transcript: ENSMUST00000161850

SMART Domains

Protein: ENSMUSP00000124939
Gene: ENSMUSG00000036879

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,270	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 36,095,457	V105F	possibly damaging	Het
4932438A13Rik	A	G	3: 37,006,983		probably null	Het
Actr10	A	G	12: 70,942,330	I74M	probably benign	Het
Aen	T	C	7: 78,905,912	Y108H	probably damaging	Het
Afm	A	T	5: 90,524,920	K205*	probably null	Het
Ankrd27	T	A	7: 35,632,985	S846T	probably benign	Het
Ano3	A	G	2: 110,885,007	S29P	probably benign	Het
Apaf1	C	T	10: 91,077,614	W138*	probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgef4	A	G	1: 34,811,140	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,509,971	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,493,168	T70I	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bspry	T	A	4: 62,494,797	C256S	probably damaging	Het
C3	C	A	17: 57,220,135	W771C	probably damaging	Het
Camkv	A	G	9: 107,947,088	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,635,548	V109E	probably damaging	Het
Cd101	A	G	3: 101,018,917	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,392,777	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,810,696	Q380E	probably benign	Het
Col6a3	T	C	1: 90,822,359	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,011,278	V82A	possibly damaging	Het
Cux1	G	A	5: 136,363,319	Q194*	probably null	Het
Daam2	T	C	17: 49,485,457	E361G	probably benign	Het
Dcaf17	A	T	2: 71,078,172		probably null	Het
Dnaic1	T	C	4: 41,570,020		probably null	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969	M988T	possibly damaging	Het
Fancm	T	C	12: 65,105,520	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gm3604	G	T	13: 62,369,942	H201N	probably benign	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gpatch8	A	G	11: 102,508,142		probably null	Het
H2-M3	T	C	17: 37,271,189	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,470,488	S62R	probably damaging	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Hrg	A	T	16: 22,954,457	Q113H	probably damaging	Het
Kcnj16	T	C	11: 111,024,953	V147A	possibly damaging	Het
Kif1a	T	C	1: 93,019,031	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,820,345		probably benign	Het
Krt90	A	T	15: 101,557,230	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,499,271	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,728,729	T225K	probably benign	Het
Map1a	C	T	2: 121,307,012	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,397,643	D193G	probably benign	Het
Mpped2	T	A	2: 106,867,032	I284N	probably damaging	Het
Msh6	A	G	17: 87,985,125	H436R	probably benign	Het
Mterf3	A	T	13: 66,930,062	S48T	probably damaging	Het
Muc5b	T	C	7: 141,846,031	F414L	unknown	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Nploc4	A	G	11: 120,404,229	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,375,598	T397A	probably benign	Het
Ntsr2	A	T	12: 16,654,110	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,806,180	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,710,547	V105A	possibly damaging	Het
Olfr791	T	A	10: 129,527,049	V274D	probably damaging	Het
Parp3	T	A	9: 106,475,117	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,624,017	S936P	probably damaging	Het
Pdzd3	T	C	9: 44,250,303	D93G	possibly damaging	Het
Pink1	T	C	4: 138,314,020	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119	D338G	probably damaging	Het
Prss8	G	T	7: 127,929,858	L9I	probably benign	Het
Ptpn22	G	A	3: 103,876,738		probably null	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114	S200P	possibly damaging	Het
Rb1	T	A	14: 73,212,990	K645*	probably null	Het
Robo2	C	T	16: 73,899,154	G1367D	probably benign	Het
Rp1	A	G	1: 4,352,671	V52A	probably damaging	Het
Samd13	T	C	3: 146,662,712	T23A	probably benign	Het
Scn7a	T	C	2: 66,699,973	H676R	probably damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Slc2a8	T	C	2: 32,980,079	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,210,564	R88L	probably damaging	Het
Slc8a2	A	G	7: 16,152,920	I657V	probably benign	Het
Slit2	C	A	5: 48,191,016		probably benign	Het
Spire2	A	G	8: 123,363,071	D447G	probably benign	Het
Sptlc3	A	G	2: 139,566,675	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,217	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,464,316	T334I	probably damaging	Het
Syt5	G	T	7: 4,540,279	T327N	probably damaging	Het
Tcof1	T	C	18: 60,816,084	D1253G	possibly damaging	Het
Tnks	A	T	8: 34,875,232	V388D	probably damaging	Het
Ugt2b1	T	C	5: 86,926,000	T167A	probably benign	Het
Usp40	G	A	1: 87,995,842	R236C	possibly damaging	Het
Utrn	T	C	10: 12,455,480	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,713,010	S282P	possibly damaging	Het
Vps45	T	C	3: 96,046,440	E200G	probably benign	Het
Wnt7b	T	A	15: 85,559,080	I41F	probably damaging	Het
Zmym6	T	A	4: 127,103,414	N275K	probably damaging	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
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
X0021:Phkb	UTSW	8	86029635	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGAGGACTCATCGTAATG -3'
(R):5'- AGCTGTACTAGAATCAACAGAGAC -3'

Sequencing Primer
(F):5'- GACCAGAAGTTCAAGGTCATCTTTGG -3'
(R):5'- TGTACTAGAATCAACAGAGACAACAG -3'

Posted On

2014-07-14