Mutagenetix > Incidental Mutation

Incidental Mutation 'R6957:Phka2'

541560

Institutional Source

Beutler Lab

Gene Symbol

Phka2

Ensembl Gene

ENSMUSG00000031295

Gene Name

phosphorylase kinase alpha 2

Synonyms

k, 6330505C01Rik, Phk

MMRRC Submission

045068-MU

Accession Numbers

Essential gene?

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

Stock #

R6957 (G1)

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

159285162-159381874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 159316044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 230 (V230I)

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: V230I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295
AA Change: V230I

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: V230I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107995
Gene: ENSMUSG00000031295
AA Change: V230I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112377
AA Change: V230I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295
AA Change: V230I

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: V230I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295
AA Change: V230I

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

Meta Mutation Damage Score

0.2173

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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, 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	G	1: 138,779,857 (GRCm39)	S132P	probably damaging	Het
Abcb5	A	G	12: 118,871,270 (GRCm39)	F710L	probably damaging	Het
Acsm4	T	G	7: 119,310,622 (GRCm39)	V503G	probably damaging	Het
Adam26a	T	A	8: 44,021,940 (GRCm39)	M517L	probably benign	Het
Adcy10	C	A	1: 165,391,854 (GRCm39)	L1345I	probably damaging	Het
Adgrv1	T	C	13: 81,715,609 (GRCm39)	I860V	probably benign	Het
Alcam	T	C	16: 52,097,257 (GRCm39)	D333G	probably damaging	Het
Amt	C	A	9: 108,177,032 (GRCm39)	F213L	possibly damaging	Het
Ascc3	A	G	10: 50,604,278 (GRCm39)	T1333A	probably damaging	Het
Asxl3	C	A	18: 22,655,148 (GRCm39)	L1053I	probably damaging	Het
Atxn10	T	C	15: 85,220,699 (GRCm39)	S12P	probably damaging	Het
AU021092	T	C	16: 5,030,017 (GRCm39)	I333V	probably benign	Het
Birc6	A	G	17: 74,886,486 (GRCm39)	I577V	probably benign	Het
Cadm2	A	T	16: 66,609,726 (GRCm39)	F132I	probably benign	Het
Casp3	T	A	8: 47,087,308 (GRCm39)	V85D	probably damaging	Het
Ccdc168	C	T	1: 44,096,367 (GRCm39)	C1577Y	probably benign	Het
Ccdc85a	A	T	11: 28,342,944 (GRCm39)		probably benign	Het
Cd22	T	C	7: 30,566,999 (GRCm39)	R760G	possibly damaging	Het
Cela3a	A	T	4: 137,135,441 (GRCm39)	W41R	probably damaging	Het
Cep164	A	G	9: 45,683,578 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Ddx20	C	A	3: 105,591,626 (GRCm39)	K181N	probably benign	Het
Dnah14	G	C	1: 181,612,740 (GRCm39)	A3846P	possibly damaging	Het
Ern1	A	C	11: 106,294,365 (GRCm39)	I813S	probably damaging	Het
Fam181a	G	A	12: 103,282,773 (GRCm39)	G226D	probably damaging	Het
Fam186a	T	A	15: 99,844,357 (GRCm39)	D629V	unknown	Het
Gipr	T	A	7: 18,898,529 (GRCm39)	T26S	probably benign	Het
Gm3159	A	G	14: 4,398,530 (GRCm38)	R74G	possibly damaging	Het
Greb1l	G	A	18: 10,558,786 (GRCm39)	V1814I	probably benign	Het
Hacd1	A	T	2: 14,049,664 (GRCm39)	V98E	probably damaging	Het
Iars1	T	G	13: 49,875,637 (GRCm39)	F775V	probably damaging	Het
Il12rb2	G	A	6: 67,269,636 (GRCm39)	L726F	possibly damaging	Het
Itih4	T	C	14: 30,614,560 (GRCm39)	V474A	probably damaging	Het
Kmt2a	A	C	9: 44,731,319 (GRCm39)		probably benign	Het
Ktn1	T	A	14: 47,904,810 (GRCm39)	L196*	probably null	Het
Lipo4	A	G	19: 33,476,767 (GRCm39)	V327A	probably benign	Het
Lratd2	T	C	15: 60,694,934 (GRCm39)	T271A	probably benign	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp4	C	A	2: 91,317,387 (GRCm39)	T837K	probably damaging	Het
Mad1l1	G	T	5: 140,051,572 (GRCm39)	F664L	probably damaging	Het
Mecr	A	G	4: 131,589,172 (GRCm39)	T247A	probably benign	Het
Msi1	G	A	5: 115,583,483 (GRCm39)	A228T	probably benign	Het
Mup5	T	A	4: 61,751,273 (GRCm39)	N125I	probably damaging	Het
Mybl2	C	T	2: 162,914,728 (GRCm39)	S282F	possibly damaging	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nalcn	T	C	14: 123,744,966 (GRCm39)	D354G	probably damaging	Het
Nckap1l	T	C	15: 103,399,938 (GRCm39)	V1040A	possibly damaging	Het
Nlrp12	T	A	7: 3,271,160 (GRCm39)	D1051V	probably damaging	Het
Nudt7	A	G	8: 114,860,385 (GRCm39)	K16R	probably benign	Het
Or4b1	G	T	2: 89,979,494 (GRCm39)	Y285*	probably null	Het
Or8g29-ps1	A	G	9: 39,200,577 (GRCm39)	V203A	unknown	Het
Paqr3	A	T	5: 97,256,110 (GRCm39)	I88K	possibly damaging	Het
Parp9	A	G	16: 35,768,716 (GRCm39)	M299V	probably benign	Het
Pde4dip	A	T	3: 97,731,649 (GRCm39)		probably null	Het
Pex13	T	G	11: 23,605,628 (GRCm39)	M201L	probably benign	Het
Pfas	C	A	11: 68,884,709 (GRCm39)	V498L	probably benign	Het
Plec	T	A	15: 76,070,414 (GRCm39)	D932V	probably damaging	Het
Qng1	C	A	13: 58,529,775 (GRCm39)	C279F	probably damaging	Het
Qsox2	C	T	2: 26,107,654 (GRCm39)	A445T	probably benign	Het
Rapgef1	C	A	2: 29,623,710 (GRCm39)	Q820K	possibly damaging	Het
Samd13	A	G	3: 146,368,424 (GRCm39)		probably null	Het
Samm50	G	T	15: 84,082,850 (GRCm39)	D104Y	probably damaging	Het
Sbk3	A	T	7: 4,970,522 (GRCm39)	F282L	probably benign	Het
Sfmbt1	C	T	14: 30,509,546 (GRCm39)	H342Y	probably benign	Het
Sgo2b	CCATCATCATCATCATCATCAT	CCATCATCATCATCATCAT	8: 64,384,489 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,043,344 (GRCm39)	L596*	probably null	Het
Spata31h1	A	T	10: 82,129,620 (GRCm39)	I1130K	probably benign	Het
St8sia3	T	C	18: 64,404,853 (GRCm39)	S377P	probably benign	Het
Stmnd1	T	G	13: 46,427,375 (GRCm39)	S28A	probably benign	Het
Syne3	A	T	12: 104,920,561 (GRCm39)	L458Q	probably damaging	Het
Synm	C	T	7: 67,385,848 (GRCm39)	V163I	probably benign	Het
Tbc1d23	A	G	16: 57,028,686 (GRCm39)	C161R	probably damaging	Het
Tnfrsf4	G	A	4: 156,100,625 (GRCm39)	V215I	probably benign	Het
Vars2	T	G	17: 35,977,967 (GRCm39)	K67Q	probably benign	Het
Vmn2r13	A	T	5: 109,304,753 (GRCm39)	Y559*	probably null	Het
Wdpcp	T	C	11: 21,671,154 (GRCm39)	I465T	possibly damaging	Het
Zwilch	A	C	9: 64,069,844 (GRCm39)		probably null	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
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
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'- GACATTCTTCATTGCCATTAGGAG -3'
(R):5'- GCTTTGGCTGTTAGCTCCAC -3'

Sequencing Primer
(F):5'- CTTCATTGCCATTAGGAGAAACATG -3'
(R):5'- GACGAGTTGCCCAGGTTCATTTAC -3'

Posted On

2018-11-28