Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Phka2'

268766

Institutional Source

Beutler Lab

Gene Symbol

Phka2

Ensembl Gene

ENSMUSG00000031295

Gene Name

phosphorylase kinase alpha 2

Synonyms

k, 6330505C01Rik, Phk

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R3623 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

159285162-159381874 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 159327291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 334 (Y334*)

Ref Sequence

ENSEMBL: ENSMUSP00000107999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033652] [ENSMUST00000112376] [ENSMUST00000112377] [ENSMUST00000112380]

AlphaFold

Q8BWJ3

Predicted Effect

probably null
Transcript: ENSMUST00000033652
AA Change: Y334*

SMART Domains

Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295
AA Change: Y334*

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	919	9.2e-200	PFAM
low complexity region	1039	1055	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112376
AA Change: Y334*

SMART Domains

Protein: ENSMUSP00000107995
Gene: ENSMUSG00000031295
AA Change: Y334*

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	521	1.5e-158	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112377
AA Change: Y334*

SMART Domains

Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295
AA Change: Y334*

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	919	9.2e-200	PFAM
low complexity region	1039	1055	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112380
AA Change: Y334*

SMART Domains

Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295
AA Change: Y334*

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	8	919	4.5e-197	PFAM
low complexity region	1039	1055	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154142

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

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 hepatic 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Becn2	T	C	1: 175,748,197 (GRCm39)	C88R	possibly damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Camk2g	G	A	14: 20,805,775 (GRCm39)		probably benign	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cep135	G	A	5: 76,772,586 (GRCm39)	G657D	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,817,498 (GRCm39)	I391T	probably benign	Het
Fcgbp	A	G	7: 27,800,701 (GRCm39)	Y1249C	probably damaging	Het
Gm5592	T	C	7: 40,807,052 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,629 (GRCm39)	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380 (GRCm39)	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,245,857 (GRCm39)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,620,103 (GRCm39)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,072,583 (GRCm39)	H324R	probably damaging	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,086,269 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Or14a259	A	G	7: 86,013,308 (GRCm39)	F79S	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcnt	T	A	10: 76,269,584 (GRCm39)	E228V	probably benign	Het
Pkhd1l1	A	T	15: 44,390,265 (GRCm39)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Thbd	A	G	2: 148,248,893 (GRCm39)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 29,981,333 (GRCm39)	C29*	probably null	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Usp35	T	C	7: 96,961,827 (GRCm39)	H533R	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Zap70	C	T	1: 36,818,216 (GRCm39)	T301I	probably benign	Het
Zfp341	A	G	2: 154,466,801 (GRCm39)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zfp786	T	C	6: 47,798,357 (GRCm39)	N194D	probably benign	Het

Other mutations in Phka2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:Phka2	APN	X	159,347,209 (GRCm39)	missense	possibly damaging	0.68
IGL02179:Phka2	APN	X	159,337,376 (GRCm39)	critical splice donor site	probably null
IGL03034:Phka2	APN	X	159,360,546 (GRCm39)	nonsense	probably null
R1996:Phka2	UTSW	X	159,324,411 (GRCm39)	missense	probably benign	0.27
R2054:Phka2	UTSW	X	159,337,323 (GRCm39)	missense	probably damaging	1.00
R2237:Phka2	UTSW	X	159,324,408 (GRCm39)	missense	probably damaging	1.00
R2238:Phka2	UTSW	X	159,324,408 (GRCm39)	missense	probably damaging	1.00
R2239:Phka2	UTSW	X	159,324,408 (GRCm39)	missense	probably damaging	1.00
R3622:Phka2	UTSW	X	159,327,291 (GRCm39)	nonsense	probably null
R3701:Phka2	UTSW	X	159,316,045 (GRCm39)	missense	possibly damaging	0.95
R5735:Phka2	UTSW	X	159,342,862 (GRCm39)	frame shift	probably null
R5736:Phka2	UTSW	X	159,342,862 (GRCm39)	frame shift	probably null
R5737:Phka2	UTSW	X	159,342,862 (GRCm39)	frame shift	probably null
R5738:Phka2	UTSW	X	159,342,862 (GRCm39)	frame shift	probably null
R6812:Phka2	UTSW	X	159,316,044 (GRCm39)	missense	probably damaging	0.99
R6813:Phka2	UTSW	X	159,316,044 (GRCm39)	missense	probably damaging	0.99
R6957:Phka2	UTSW	X	159,316,044 (GRCm39)	missense	probably damaging	0.99
R6960:Phka2	UTSW	X	159,316,044 (GRCm39)	missense	probably damaging	0.99
X0066:Phka2	UTSW	X	159,332,268 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGTATTGACTGAGACAGGC -3'
(R):5'- GCATGAAGTCTAATCACTCAGAGATTC -3'

Sequencing Primer
(F):5'- ACTGAGACAGGCAAGGGAAACC -3'
(R):5'- AGATTCTACTGCTGTGAGAAGCCC -3'

Posted On

2015-02-19