Mutagenetix > Incidental Mutation

Incidental Mutation 'R2239:Phka2'

240589

Institutional Source

Beutler Lab

Gene Symbol

Phka2

Ensembl Gene

ENSMUSG00000031295

Gene Name

phosphorylase kinase alpha 2

Synonyms

k, 6330505C01Rik, Phk

MMRRC Submission

040239-MU

Accession Numbers

Essential gene?

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

Stock #

R2239 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

159285162-159381874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 159324408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 254 (E254G)

Ref Sequence

ENSEMBL: ENSMUSP00000107999 (fasta)

Gene Model

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

AlphaFold

Q8BWJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000033652
AA Change: E254G

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

SMART Domains

Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295
AA Change: E254G

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: E254G

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

SMART Domains

Protein: ENSMUSP00000107995
Gene: ENSMUSG00000031295
AA Change: E254G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112377
AA Change: E254G

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

SMART Domains

Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295
AA Change: E254G

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: E254G

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

SMART Domains

Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295
AA Change: E254G

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

0.8477

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

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
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	T	A	1: 139,384,584 (GRCm39)	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,366,822 (GRCm39)	C259R	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,092,960 (GRCm39)	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Cnnm4	T	A	1: 36,544,759 (GRCm39)	S673T	probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Dars2	T	C	1: 160,890,852 (GRCm39)	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,240,344 (GRCm39)		probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Exoc1	T	C	5: 76,707,557 (GRCm39)		probably benign	Het
Fam186a	C	T	15: 99,852,745 (GRCm39)	V158M	unknown	Het
Fryl	A	G	5: 73,265,890 (GRCm39)	L477P	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ift88	A	G	14: 57,692,961 (GRCm39)	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Map3k1	A	C	13: 111,885,478 (GRCm39)	S1480A	probably benign	Het
Map7	A	T	10: 20,154,028 (GRCm39)	N715Y	unknown	Het
Morn4	A	G	19: 42,066,471 (GRCm39)	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,314,607 (GRCm39)	D105E	probably damaging	Het
Nfasc	T	C	1: 132,510,760 (GRCm39)		probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or2aa1	A	G	11: 59,480,097 (GRCm39)	S273P	possibly damaging	Het
Or5ac23	T	A	16: 59,149,738 (GRCm39)	I45F	probably damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
P4hb	A	G	11: 120,454,108 (GRCm39)	Y329H	probably damaging	Het
Papolg	A	G	11: 23,826,378 (GRCm39)	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Pde4a	G	A	9: 21,122,564 (GRCm39)	C820Y	probably damaging	Het
Phrf1	A	G	7: 140,817,605 (GRCm39)	E138G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc16a8	T	C	15: 79,137,147 (GRCm39)	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tet1	T	C	10: 62,715,513 (GRCm39)	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,308,411 (GRCm39)	T2020K	probably benign	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	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
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'- GGCCAGCAGATGTCATGTTG -3'
(R):5'- GACTCTCTTTGGAAACACTCTGTGAG -3'

Sequencing Primer
(F):5'- CCAGCAGATGTCATGTTGTTAAGACC -3'
(R):5'- GGAAACACTCTGTGAGTCATTC -3'

Posted On

2014-10-15