Mutagenetix > Incidental Mutation

Incidental Mutation 'R2054:Phka2'

226556

Institutional Source

Beutler Lab

Gene Symbol

Phka2

Ensembl Gene

ENSMUSG00000031295

Gene Name

phosphorylase kinase alpha 2

Synonyms

k, 6330505C01Rik, Phk

MMRRC Submission

040059-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2054 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

159285162-159381874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 159337323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 424 (D424E)

Ref Sequence

ENSEMBL: ENSMUSP00000107996 (fasta)

Gene Model

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

AlphaFold

Q8BWJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000033652
AA Change: D424E

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

SMART Domains

Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295
AA Change: D424E

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 damaging
Transcript: ENSMUST00000112376
AA Change: D424E

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

SMART Domains

Protein: ENSMUSP00000107995
Gene: ENSMUSG00000031295
AA Change: D424E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112377
AA Change: D424E

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

SMART Domains

Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295
AA Change: D424E

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 damaging
Transcript: ENSMUST00000112380
AA Change: D424E

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

SMART Domains

Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295
AA Change: D424E

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: ENSMUST00000139496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153907

Meta Mutation Damage Score

0.9063

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,562 (GRCm39)	C94S	possibly damaging	Het
A930011G23Rik	T	C	5: 99,375,914 (GRCm39)	Y432C	probably benign	Het
Abtb2	A	G	2: 103,535,462 (GRCm39)	D543G	probably benign	Het
Adam9	A	T	8: 25,481,310 (GRCm39)	V318E	probably damaging	Het
Aim2	T	C	1: 173,291,548 (GRCm39)	F318L	probably damaging	Het
Apob	A	T	12: 8,063,134 (GRCm39)	D3872V	probably damaging	Het
Atat1	T	A	17: 36,212,261 (GRCm39)	R323W	probably null	Het
Atp2b4	T	C	1: 133,642,907 (GRCm39)	D1066G	probably benign	Het
Bltp1	A	G	3: 37,002,002 (GRCm39)	T1316A	probably benign	Het
Caskin2	T	C	11: 115,697,127 (GRCm39)		probably benign	Het
Cblif	G	A	19: 11,736,370 (GRCm39)	V314I	probably benign	Het
Ccdc54	T	A	16: 50,410,987 (GRCm39)	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,491,128 (GRCm39)	D159E	possibly damaging	Het
Cnot1	A	C	8: 96,466,469 (GRCm39)	S1589R	possibly damaging	Het
Copa	T	A	1: 171,946,524 (GRCm39)	Y980*	probably null	Het
Defb19	A	G	2: 152,418,090 (GRCm39)	I82T	possibly damaging	Het
Elapor2	C	A	5: 9,513,030 (GRCm39)	T1008K	possibly damaging	Het
Fiz1	G	A	7: 5,011,235 (GRCm39)	R428C	probably damaging	Het
Fnip2	A	T	3: 79,479,772 (GRCm39)		probably benign	Het
Gabrb3	G	A	7: 57,474,241 (GRCm39)	G408S	probably benign	Het
Hao1	C	T	2: 134,340,178 (GRCm39)		silent	Het
Hecw1	T	A	13: 14,471,998 (GRCm39)	M557L	probably damaging	Het
Itch	A	T	2: 155,052,496 (GRCm39)	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,734,671 (GRCm39)		probably benign	Het
Leng8	T	G	7: 4,147,289 (GRCm39)	Y562*	probably null	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1b	A	T	2: 40,587,494 (GRCm39)	N151K	unknown	Het
Lrrc71	T	C	3: 87,649,980 (GRCm39)	E316G	probably damaging	Het
Mgat5	A	G	1: 127,325,344 (GRCm39)	N404D	probably damaging	Het
Mrps26	C	A	2: 130,406,087 (GRCm39)	T100K	probably benign	Het
Mtor	A	G	4: 148,547,309 (GRCm39)	T431A	probably benign	Het
Mtor	T	A	4: 148,550,482 (GRCm39)	C713S	probably benign	Het
Mug2	A	G	6: 122,054,451 (GRCm39)	K1077E	probably damaging	Het
Nbas	A	G	12: 13,524,207 (GRCm39)	T1688A	probably benign	Het
Nek2	T	C	1: 191,553,764 (GRCm39)	S3P	possibly damaging	Het
Nell2	T	C	15: 95,332,990 (GRCm39)	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560 (GRCm39)	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846 (GRCm39)	I453K	probably damaging	Het
Pcnx1	A	G	12: 81,980,448 (GRCm39)	H865R	probably benign	Het
Pex1	T	C	5: 3,653,341 (GRCm39)	V80A	possibly damaging	Het
Pkd1	C	T	17: 24,793,770 (GRCm39)	T1819I	probably benign	Het
Poglut1	T	C	16: 38,355,169 (GRCm39)	D219G	probably damaging	Het
Ppargc1a	T	C	5: 51,631,130 (GRCm39)	I500V	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pygm	C	G	19: 6,438,185 (GRCm39)	N163K	probably benign	Het
Qrich1	T	A	9: 108,436,469 (GRCm39)	N722K	possibly damaging	Het
Reep6	T	A	10: 80,166,156 (GRCm39)	C104*	probably null	Het
Rfx8	A	G	1: 39,724,719 (GRCm39)	V214A	possibly damaging	Het
Sis	G	A	3: 72,820,570 (GRCm39)	T1398I	probably benign	Het
Skint5	A	G	4: 113,676,360 (GRCm39)		probably null	Het
Slc7a14	A	G	3: 31,291,511 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,948 (GRCm39)	M646K	probably benign	Het
Snx29	A	G	16: 11,449,356 (GRCm39)	N165S	probably damaging	Het
Supt6	T	A	11: 78,115,187 (GRCm39)		probably benign	Het
Tead4	G	T	6: 128,247,925 (GRCm39)	S37R	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tex56	T	A	13: 35,108,574 (GRCm39)	Y19N	probably damaging	Het
Tff2	T	C	17: 31,362,199 (GRCm39)	K40E	probably benign	Het
Traip	C	T	9: 107,840,118 (GRCm39)	T265M	probably benign	Het
Trim47	T	C	11: 115,999,109 (GRCm39)	T256A	probably benign	Het
Trpm1	A	G	7: 63,890,303 (GRCm39)	M853V	possibly damaging	Het
Tti1	G	T	2: 157,849,365 (GRCm39)	Q625K	possibly damaging	Het
Ube2n	A	G	10: 95,377,128 (GRCm39)	N31S	probably damaging	Het
Vmn2r17	T	C	5: 109,600,352 (GRCm39)	M550T	probably damaging	Het
Zfp512	T	A	5: 31,622,793 (GRCm39)	N31K	probably benign	Het
Zfp64	A	G	2: 168,767,728 (GRCm39)	V628A	probably damaging	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
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
R3623: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'- AGAAGCCCTCAGAGCTAAGC -3'
(R):5'- CACTGCTAGAACCTGGCTAAATAC -3'

Sequencing Primer
(F):5'- CAGTAGCATTCTGAGTAGCATATTG -3'
(R):5'- GCTAGAACCTGGCTAAATACACTTTG -3'

Posted On

2014-09-17