Mutagenetix > Incidental Mutation

Incidental Mutation 'R2115:Phka1'

233093

Institutional Source

Beutler Lab

Gene Symbol

Phka1

Ensembl Gene

ENSMUSG00000034055

Gene Name

phosphorylase kinase alpha 1

Synonyms

Phka, 9830108K24Rik

MMRRC Submission

040119-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2115 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

101557581-101687852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101653807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 290 (R290H)

Ref Sequence

ENSEMBL: ENSMUSP00000042778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043596] [ENSMUST00000052012] [ENSMUST00000113611] [ENSMUST00000119229] [ENSMUST00000120270] [ENSMUST00000122022]

AlphaFold

P18826

Predicted Effect

probably damaging
Transcript: ENSMUST00000043596
AA Change: R290H

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

SMART Domains

Protein: ENSMUSP00000042778
Gene: ENSMUSG00000034055
AA Change: R290H

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	864	5.6e-196	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052012
AA Change: R290H

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061991
Gene: ENSMUSG00000034055
AA Change: R290H

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	923	6.8e-196	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113611
AA Change: R290H

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

SMART Domains

Protein: ENSMUSP00000109241
Gene: ENSMUSG00000034055
AA Change: R290H

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	923	6.5e-196	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119229
AA Change: R290H

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114066
Gene: ENSMUSG00000034055
AA Change: R290H

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	923	7e-196	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120270
AA Change: R290H

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113302
Gene: ENSMUSG00000034055
AA Change: R290H

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	923	7.3e-196	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122022
AA Change: R290H

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112529
Gene: ENSMUSG00000034055
AA Change: R290H

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	923	7.6e-196	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142534

Meta Mutation Damage Score

0.2178

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

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, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are 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 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
PHENOTYPE: PHK activity is nearly absent in I/Ln skeletal muscle and reduced in brain, heart and kidney. The I-allele sequence is known to have a single nucleotide insertion (frameshift). A different allele in strain V reduces PHK activity to 25% and is dominant tonormal and I-strain alleles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,900,562 (GRCm39)	T1195A	probably benign	Het
Abca12	A	T	1: 71,283,930 (GRCm39)	N2547K	probably benign	Het
Abca16	A	C	7: 120,139,868 (GRCm39)	E1510A	probably damaging	Het
Adam5	A	G	8: 25,234,161 (GRCm39)		probably benign	Het
Akna	G	A	4: 63,313,397 (GRCm39)	P242L	probably benign	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,767,361 (GRCm39)	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Ark2n	T	C	18: 77,762,168 (GRCm39)	D48G	possibly damaging	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Atxn1l	C	T	8: 110,459,240 (GRCm39)	A341T	probably benign	Het
Birc7	C	A	2: 180,572,642 (GRCm39)	Q138K	possibly damaging	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Chad	C	T	11: 94,459,052 (GRCm39)	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534 (GRCm39)		probably null	Het
Dnah17	C	T	11: 118,010,628 (GRCm39)	C230Y	probably benign	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Dusp11	T	C	6: 85,935,651 (GRCm39)	D74G	probably damaging	Het
Duxf4	T	C	10: 58,072,073 (GRCm39)	D47G	possibly damaging	Het
Eif3m	T	C	2: 104,837,141 (GRCm39)	T61A	probably damaging	Het
Esyt1	T	A	10: 128,357,973 (GRCm39)	D212V	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
F13a1	A	T	13: 37,172,831 (GRCm39)	I183N	probably damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,503,423 (GRCm39)	N68K	probably damaging	Het
Fut7	C	A	2: 25,315,343 (GRCm39)	Y153*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm1527	T	C	3: 28,972,098 (GRCm39)	L405P	probably benign	Het
Heatr6	T	A	11: 83,648,281 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,835,576 (GRCm39)		probably benign	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,194,120 (GRCm39)	R60Q	probably benign	Het
Katnal2	T	C	18: 77,067,787 (GRCm39)	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,480,701 (GRCm39)	L755F	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
Kifc3	A	G	8: 95,835,341 (GRCm39)	Y178H	probably damaging	Het
Krit1	A	T	5: 3,872,108 (GRCm39)	R378*	probably null	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lama3	C	A	18: 12,535,906 (GRCm39)	T204N	possibly damaging	Het
Lama5	A	G	2: 179,828,678 (GRCm39)	C2090R	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mipep	T	C	14: 61,024,829 (GRCm39)	V90A	probably damaging	Het
Myo3a	A	T	2: 22,250,342 (GRCm39)	I70F	probably damaging	Het
Napa	A	G	7: 15,848,134 (GRCm39)	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,451,489 (GRCm39)	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,409,288 (GRCm39)	V13E	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nptx2	G	C	5: 144,492,216 (GRCm39)	G331A	probably damaging	Het
Or2q1	A	G	6: 42,794,431 (GRCm39)	T9A	possibly damaging	Het
Or4c122	T	C	2: 89,079,874 (GRCm39)	I55V	probably damaging	Het
Or5h17	T	C	16: 58,820,783 (GRCm39)	L245P	possibly damaging	Het
Or7g34	T	C	9: 19,478,618 (GRCm39)	T18A	probably benign	Het
Parp14	T	C	16: 35,678,904 (GRCm39)	T355A	probably benign	Het
Pcdh12	T	C	18: 38,417,039 (GRCm39)	T29A	probably damaging	Het
Pced1b	T	A	15: 97,282,505 (GRCm39)	C181*	probably null	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,537,737 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,597,972 (GRCm39)	K178N	probably damaging	Het
Prkag1	T	C	15: 98,712,433 (GRCm39)	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,337,982 (GRCm39)	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rassf9	A	G	10: 102,380,806 (GRCm39)	T63A	probably benign	Het
Rdh11	G	T	12: 79,222,996 (GRCm39)	Q292K	probably benign	Het
Rere	C	A	4: 150,697,018 (GRCm39)		probably benign	Het
Rgs18	G	T	1: 144,629,629 (GRCm39)	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,318,839 (GRCm39)	N1099S	probably benign	Het
Ros1	T	C	10: 52,004,651 (GRCm39)	I969V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rrp12	C	T	19: 41,879,533 (GRCm39)	V174I	probably benign	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Sbk3	A	G	7: 4,970,415 (GRCm39)	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Sec23ip	G	A	7: 128,364,185 (GRCm39)	V488I	probably benign	Het
Serpine3	T	C	14: 62,910,459 (GRCm39)	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,331,896 (GRCm39)	T512A	possibly damaging	Het
Slc49a4	T	C	16: 35,518,309 (GRCm39)	D468G	probably benign	Het
Smpd4	T	C	16: 17,444,729 (GRCm39)	Y118H	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,241,534 (GRCm39)	V120I	probably benign	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Utp20	T	C	10: 88,621,865 (GRCm39)	D1136G	probably benign	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Yars1	T	G	4: 129,101,716 (GRCm39)		probably null	Het
Zfp472	A	G	17: 33,196,988 (GRCm39)	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het

Other mutations in Phka1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Phka1	APN	X	101,629,712 (GRCm39)	missense	probably damaging	0.99
IGL02561:Phka1	APN	X	101,641,895 (GRCm39)	splice site	probably benign
IGL03201:Phka1	APN	X	101,584,716 (GRCm39)	critical splice donor site	probably null
IGL03294:Phka1	APN	X	101,580,819 (GRCm39)	missense	probably damaging	1.00
R0626:Phka1	UTSW	X	101,564,437 (GRCm39)	missense	probably damaging	1.00
R0635:Phka1	UTSW	X	101,665,006 (GRCm39)	missense	probably damaging	1.00
R0709:Phka1	UTSW	X	101,629,710 (GRCm39)	missense	probably damaging	0.98
R1399:Phka1	UTSW	X	101,660,964 (GRCm39)	missense	probably damaging	1.00
R2114:Phka1	UTSW	X	101,653,807 (GRCm39)	missense	probably damaging	1.00
R2117:Phka1	UTSW	X	101,653,807 (GRCm39)	missense	probably damaging	1.00
R2267:Phka1	UTSW	X	101,584,716 (GRCm39)	critical splice donor site	probably benign
R2268:Phka1	UTSW	X	101,584,716 (GRCm39)	critical splice donor site	probably benign
R4463:Phka1	UTSW	X	101,588,990 (GRCm39)	missense	probably benign
X0022:Phka1	UTSW	X	101,664,951 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTTAGAACTTGGCAGCAAAGC -3'
(R):5'- GCAATGCTGCTTTGAAGAAGAAC -3'

Sequencing Primer
(F):5'- GCAGCAAAGCCCAACAAATACAG -3'
(R):5'- GCTGCTTTGAAGAAGAACCTATAAC -3'

Posted On

2014-09-18