Mutagenetix > Incidental Mutations

Incidental Mutation 'R1913:Phkb'

214573

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

039931-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R1913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85840959-86061376 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85901920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 186 (I186N)

Ref Sequence

ENSEMBL: ENSMUSP00000124939 (fasta)

Gene Model

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

AlphaFold

Q7TSH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053771
AA Change: I178N

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: I178N

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

possibly damaging
Transcript: ENSMUST00000161850
AA Change: I186N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124939
Gene: ENSMUSG00000036879
AA Change: I186N

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: 95.6%
20x: 93.4%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	G	5: 9,266,275	L2R	probably damaging	Het
Abca16	A	T	7: 120,541,240	I1588F	probably benign	Het
Abcc2	A	T	19: 43,807,244	T480S	probably benign	Het
Acnat1	A	G	4: 49,447,498	I361T	probably damaging	Het
Adamts10	A	T	17: 33,549,555	H869L	probably benign	Het
AF366264	T	A	8: 13,837,143	Q316L	probably benign	Het
Agpat5	T	C	8: 18,879,613	C253R	probably benign	Het
Agtrap	T	A	4: 148,083,977	H15L	probably damaging	Het
Ahnak	T	A	19: 9,007,922	V2190E	probably damaging	Het
Alx4	A	G	2: 93,675,387	E278G	probably damaging	Het
Amz2	T	C	11: 109,428,871	S28P	probably damaging	Het
Atr	T	A	9: 95,866,733	Y444N	probably benign	Het
Brdt	T	C	5: 107,348,613	I197T	probably benign	Het
Ccser1	G	T	6: 62,379,894	S772I	probably damaging	Het
Cdh16	T	C	8: 104,616,468	H657R	probably benign	Het
Ceacam5	A	T	7: 17,759,577	K842*	probably null	Het
Cep120	G	A	18: 53,723,286	T353I	probably benign	Het
Chrnb1	T	C	11: 69,793,584	N164S	possibly damaging	Het
Cse1l	T	C	2: 166,922,191	F123L	probably damaging	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Dcx	G	C	X: 143,923,103	L231V	probably damaging	Het
Dnah12	T	C	14: 26,792,264		probably null	Het
Dnah2	A	T	11: 69,464,930	M2227K	probably damaging	Het
Dnajc30	G	A	5: 135,064,332	A28T	probably benign	Het
Dnm1l	T	C	16: 16,329,966	T306A	probably benign	Het
Enpp3	C	A	10: 24,776,771	E763*	probably null	Het
Esyt3	T	C	9: 99,320,311	S516G	probably benign	Het
Exoc3	T	C	13: 74,182,316	Q498R	probably damaging	Het
Fbn2	T	A	18: 58,061,742	N1449I	probably damaging	Het
Fgb	T	C	3: 83,044,980	D194G	probably benign	Het
Fgd3	T	C	13: 49,263,848	D713G	possibly damaging	Het
Foxb1	T	A	9: 69,760,101	Y49F	possibly damaging	Het
Fpr3	A	G	17: 17,971,408	I314V	probably damaging	Het
Gfod1	A	T	13: 43,303,445	I18N	probably damaging	Het
Gm11492	T	C	11: 87,567,012	S71P	probably benign	Het
Gm5407	T	C	16: 49,296,920		noncoding transcript	Het
Gm7534	A	G	4: 134,192,675		probably null	Het
Gpr89	A	G	3: 96,875,633	F334L	possibly damaging	Het
Gucy2d	G	T	7: 98,443,847	V144F	probably benign	Het
H2-Bl	T	A	17: 36,081,016	K237M	probably damaging	Het
H2-M10.5	C	A	17: 36,774,768	P273H	probably damaging	Het
Hcn2	A	G	10: 79,730,943	M485V	probably benign	Het
Helz2	G	T	2: 181,233,750	S1650R	probably damaging	Het
Ifnar2	T	C	16: 91,404,170	V433A	probably benign	Het
Igsf21	T	A	4: 140,107,312	Y83F	probably benign	Het
Kcnk18	A	G	19: 59,235,058	I212V	possibly damaging	Het
Kcns2	T	C	15: 34,839,709	I406T	probably damaging	Het
Krt42	C	T	11: 100,267,249	V166M	possibly damaging	Het
Lama3	T	C	18: 12,495,279	M1476T	probably benign	Het
Lcor	A	G	19: 41,558,474	R166G	probably benign	Het
Mapt	C	T	11: 104,328,075	P354L	probably damaging	Het
Mep1b	A	T	18: 21,093,229	I383F	probably benign	Het
Mpzl1	C	A	1: 165,601,805	C222F	probably benign	Het
Mug2	T	C	6: 122,070,870	L780P	probably damaging	Het
Naip2	C	T	13: 100,152,157		probably null	Het
Ndufab1	T	C	7: 122,096,691	D41G	probably benign	Het
Ntn1	A	G	11: 68,213,185	C546R	probably damaging	Het
Olfr448	T	A	6: 42,896,753	F101I	probably damaging	Het
Pakap	A	G	4: 57,892,963	E880G	probably damaging	Het
Pde6b	A	G	5: 108,427,190	E639G	probably benign	Het
Phf10	T	C	17: 14,956,809	T83A	probably benign	Het
Pkhd1	A	G	1: 20,566,756		probably null	Het
Plxnd1	C	A	6: 115,978,017	A595S	possibly damaging	Het
Ppara	T	A	15: 85,801,099	H416Q	probably damaging	Het
Prodh	T	A	16: 18,081,027	D188V	probably damaging	Het
Psmd14	A	T	2: 61,785,456	K223M	possibly damaging	Het
Ptpn5	A	G	7: 47,078,868	M528T	possibly damaging	Het
Rassf9	G	A	10: 102,544,939	E59K	probably benign	Het
Rnf2	A	T	1: 151,476,185	L140H	probably damaging	Het
Scai	A	G	2: 39,080,081	F557S	probably damaging	Het
Sdk2	A	G	11: 113,856,726	S653P	possibly damaging	Het
Sec24c	A	G	14: 20,689,111	D534G	probably benign	Het
Serinc1	A	G	10: 57,519,465	V375A	probably benign	Het
Serpinb9f	C	T	13: 33,325,846	A7V	probably damaging	Het
Smco1	T	C	16: 32,273,882	S124P	probably damaging	Het
Smim23	C	A	11: 32,824,441	C26F	possibly damaging	Het
Sppl2c	T	A	11: 104,187,889	M505K	probably benign	Het
Sprr1b	C	A	3: 92,437,468	V34F	possibly damaging	Het
Sun1	G	A	5: 139,235,732		probably null	Het
Supt16	A	G	14: 52,178,135	L381P	possibly damaging	Het
Syne2	A	G	12: 75,899,246	D364G	possibly damaging	Het
Tax1bp1	G	T	6: 52,765,952	V775F	probably damaging	Het
Tial1	T	A	7: 128,444,659	I231F	probably damaging	Het
Tiam1	C	A	16: 89,798,694	V1300L	probably damaging	Het
Tmem132e	A	G	11: 82,443,417	T585A	probably damaging	Het
Tnni3k	C	T	3: 154,979,199	A165T	probably benign	Het
Tomm40	A	T	7: 19,710,961	I165N	probably damaging	Het
Tomt	T	C	7: 101,901,247	E104G	probably damaging	Het
Topaz1	T	C	9: 122,767,013	S950P	possibly damaging	Het
Traf3ip2	C	G	10: 39,625,940	P28R	probably benign	Het
Trim24	C	T	6: 37,957,815	P822S	probably damaging	Het
Upf3a	T	G	8: 13,792,108	Y175D	probably damaging	Het
Vars2	G	A	17: 35,666,922	P69S	probably benign	Het
Veph1	T	C	3: 66,244,555	Y151C	probably damaging	Het
Vmn2r11	T	A	5: 109,054,788	D141V	probably benign	Het
Vwa5b1	G	A	4: 138,592,020	Q442*	probably null	Het
Wdr17	T	A	8: 54,687,726	D197V	probably damaging	Het
Wdr70	G	T	15: 7,884,410	T586N	possibly damaging	Het
Wfdc18	G	A	11: 83,709,928	G52R	probably benign	Het
Zc3h6	T	C	2: 129,016,620	I857T	probably damaging	Het
Zfp318	GAAGAA	GAAGAACAAGAA	17: 46,412,524		probably benign	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514		probably benign	Het
Zfp647	C	T	15: 76,911,951	V170I	probably benign	Het
Zfp871	T	C	17: 32,775,917	N76D	possibly damaging	Het
Zwilch	A	G	9: 64,160,952	Y194H	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
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'- TGCTGGCTTCCATTAGGTTCATTT -3'
(R):5'- TGAAACCATTCATTTCATACACCAAA -3'

Sequencing Primer
(F):5'- CTGACACTATTGGAGAAAATGA -3'
(R):5'- CATTCATCTTTTATCAAACT -3'

Posted On

2014-07-14