Mutagenetix > Incidental Mutation

Incidental Mutation 'R4981:Phkg2'

384832

Institutional Source

Beutler Lab

Gene Symbol

Phkg2

Ensembl Gene

ENSMUSG00000030815

Gene Name

phosphorylase kinase, gamma 2 (testis)

Synonyms

1500017I02Rik

MMRRC Submission

042576-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R4981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127172512-127182479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127181551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 245 (I245V)

Ref Sequence

ENSEMBL: ENSMUSP00000113533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000146383] [ENSMUST00000205633] [ENSMUST00000154891]

AlphaFold

Q9DB30

Predicted Effect

probably damaging
Transcript: ENSMUST00000033086
AA Change: I245V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815
AA Change: I245V

Domain	Start	End	E-Value	Type
S_TKc	24	291	6.4e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072155

SMART Domains

Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176

Domain	Start	End	E-Value	Type
Pfam:CLAMP	130	228	3.1e-37	PFAM
low complexity region	243	274	N/A	INTRINSIC
coiled coil region	285	319	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121004
AA Change: I245V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815
AA Change: I245V

Domain	Start	End	E-Value	Type
S_TKc	24	291	6.4e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138158

Predicted Effect

probably benign
Transcript: ENSMUST00000146383

SMART Domains

Protein: ENSMUSP00000115593
Gene: ENSMUSG00000030815

Domain	Start	End	E-Value	Type
Pfam:Pkinase	24	85	8.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149853

Predicted Effect

probably benign
Transcript: ENSMUST00000205839

Predicted Effect

probably benign
Transcript: ENSMUST00000205633

Predicted Effect

probably benign
Transcript: ENSMUST00000206818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151908

Predicted Effect

probably benign
Transcript: ENSMUST00000154891

SMART Domains

Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815

Domain	Start	End	E-Value	Type
Pfam:Pkinase	24	78	4.5e-6	PFAM

Meta Mutation Damage Score

0.4777

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

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, encoded by two different genes. 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, and the hepatic isoform is encoded by this gene. 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 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,095,772 (GRCm39)		probably null	Het
Aatf	T	C	11: 84,402,323 (GRCm39)	D121G	probably benign	Het
Amer2	T	A	14: 60,617,176 (GRCm39)	L331H	probably damaging	Het
Ang4	T	G	14: 52,001,829 (GRCm39)	K40Q	probably benign	Het
Aspm	A	C	1: 139,398,498 (GRCm39)		probably null	Het
Cacna1c	A	T	6: 118,728,432 (GRCm39)	D337E	probably benign	Het
Ccdc124	T	C	8: 71,321,429 (GRCm39)	E134G	probably benign	Het
Ccdc7a	G	T	8: 129,711,464 (GRCm39)	A312E	probably benign	Het
Cd209g	A	G	8: 4,186,845 (GRCm39)	D130G	probably damaging	Het
Cd320	T	C	17: 34,066,549 (GRCm39)	S96P	probably benign	Het
Cenatac	A	T	9: 44,329,245 (GRCm39)	F14Y	probably damaging	Het
Clu	C	G	14: 66,210,815 (GRCm39)	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,110,777 (GRCm39)	H28L	probably benign	Het
Cntnap1	T	C	11: 101,067,159 (GRCm39)		probably null	Het
Col22a1	C	T	15: 71,732,915 (GRCm39)	C546Y	unknown	Het
Col6a3	C	T	1: 90,706,565 (GRCm39)	V2183I	unknown	Het
Cop1	A	G	1: 159,152,638 (GRCm39)		probably benign	Het
Cpne8	T	C	15: 90,563,438 (GRCm39)	I24V	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Dennd5b	G	A	6: 148,911,270 (GRCm39)	L978F	possibly damaging	Het
Depdc1a	G	T	3: 159,229,550 (GRCm39)	M627I	probably benign	Het
Dnah3	A	T	7: 119,555,424 (GRCm39)	N2721K	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg1b	A	G	18: 20,541,925 (GRCm39)	T811A	possibly damaging	Het
Emilin1	C	G	5: 31,076,695 (GRCm39)	Q847E	probably benign	Het
Epha3	A	T	16: 63,472,775 (GRCm39)	V370D	probably benign	Het
Epha5	T	A	5: 84,298,342 (GRCm39)	T406S	probably damaging	Het
Ephb1	A	T	9: 101,918,159 (GRCm39)	I450N	probably benign	Het
Ephb2	A	G	4: 136,423,321 (GRCm39)	M319T	probably benign	Het
Eps15l1	A	G	8: 73,132,833 (GRCm39)		probably null	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,966,281 (GRCm39)	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,596,174 (GRCm39)	F582L	probably damaging	Het
Frs3	T	C	17: 48,000,187 (GRCm39)		probably null	Het
Fscb	C	T	12: 64,520,393 (GRCm39)	V358I	possibly damaging	Het
Fus	G	T	7: 127,566,727 (GRCm39)		probably benign	Het
Fyb1	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,676,092 (GRCm39)		probably benign	Het
Glra3	A	T	8: 56,444,270 (GRCm39)	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,269,860 (GRCm39)		noncoding transcript	Het
Gng3	G	A	19: 8,815,625 (GRCm39)	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,812,191 (GRCm39)		probably benign	Het
Herpud1	A	G	8: 95,118,422 (GRCm39)	Y41C	probably damaging	Het
Igkv4-92	G	C	6: 68,732,028 (GRCm39)	S115R	possibly damaging	Het
Ikbip	T	A	10: 90,931,848 (GRCm39)	I164N	probably benign	Het
Kank1	A	G	19: 25,388,759 (GRCm39)	T783A	probably benign	Het
Kcnq3	A	T	15: 65,903,254 (GRCm39)	V152E	possibly damaging	Het
Kif23	C	T	9: 61,839,153 (GRCm39)	R314H	probably damaging	Het
Klc4	T	C	17: 46,955,287 (GRCm39)	H49R	probably benign	Het
Klhl20	A	T	1: 160,930,575 (GRCm39)	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,540,701 (GRCm39)	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,306,761 (GRCm39)	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,113,265 (GRCm39)	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,960,765 (GRCm39)	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,396,201 (GRCm39)	T109S	probably benign	Het
Megf6	T	C	4: 154,351,907 (GRCm39)	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 46,984,959 (GRCm39)	V240D	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,115,300 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,716,553 (GRCm39)	I172V	probably benign	Het
Nemp1	T	A	10: 127,529,399 (GRCm39)	L178Q	probably damaging	Het
Numa1	T	C	7: 101,641,881 (GRCm39)	S110P	probably damaging	Het
Or4a75	A	G	2: 89,447,769 (GRCm39)	Y256H	probably damaging	Het
Or4c117	T	C	2: 88,955,845 (GRCm39)	T77A	probably benign	Het
Or51k1	A	G	7: 103,661,312 (GRCm39)	I199T	probably damaging	Het
Or5ak25	A	G	2: 85,268,813 (GRCm39)	S230P	probably damaging	Het
Or8k30	T	C	2: 86,339,171 (GRCm39)	Y123H	probably damaging	Het
Or9q1	A	T	19: 13,805,458 (GRCm39)	F101I	probably damaging	Het
Pard3b	T	G	1: 62,383,219 (GRCm39)	M771R	probably damaging	Het
Pik3cg	A	T	12: 32,254,103 (GRCm39)	M628K	possibly damaging	Het
Poln	A	G	5: 34,264,429 (GRCm39)		probably null	Het
Ppip5k1	A	T	2: 121,142,871 (GRCm39)	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,847,446 (GRCm39)	H363L	probably damaging	Het
Prkdc	A	G	16: 15,496,173 (GRCm39)	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,520,116 (GRCm39)	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,756,728 (GRCm39)	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,041,919 (GRCm39)	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,801,686 (GRCm39)	V2366A	probably benign	Het
Stab2	T	A	10: 86,796,087 (GRCm39)	M387L	probably benign	Het
Syne2	T	G	12: 75,987,993 (GRCm39)	M1718R	probably damaging	Het
Synm	G	T	7: 67,384,235 (GRCm39)	F700L	probably benign	Het
Tmco4	T	C	4: 138,718,012 (GRCm39)	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,095,962 (GRCm39)	P168T	probably damaging	Het
Tril	G	T	6: 53,795,905 (GRCm39)	T439K	probably benign	Het
Trim2	A	G	3: 84,085,042 (GRCm39)	L559P	probably damaging	Het
Trim3	A	G	7: 105,268,335 (GRCm39)	V149A	probably damaging	Het
Triml2	A	G	8: 43,640,717 (GRCm39)	N191S	probably benign	Het
Usp4	A	G	9: 108,258,617 (GRCm39)	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,486,885 (GRCm39)	T670I	probably damaging	Het
Vmn2r97	G	T	17: 19,160,436 (GRCm39)	G524*	probably null	Het
Xpo5	C	A	17: 46,531,743 (GRCm39)	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,190 (GRCm39)	L84S	probably damaging	Het
Zranb2	T	G	3: 157,252,378 (GRCm39)		probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het

Other mutations in Phkg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01953:Phkg2	APN	7	127,181,512 (GRCm39)	missense	probably damaging	1.00
IGL02259:Phkg2	APN	7	127,181,458 (GRCm39)	intron	probably benign
IGL02699:Phkg2	APN	7	127,181,722 (GRCm39)	missense	probably benign
IGL03039:Phkg2	APN	7	127,178,866 (GRCm39)	nonsense	probably null
R0326:Phkg2	UTSW	7	127,173,075 (GRCm39)	missense	probably damaging	1.00
R2141:Phkg2	UTSW	7	127,181,386 (GRCm39)	critical splice donor site	probably null
R2142:Phkg2	UTSW	7	127,181,386 (GRCm39)	critical splice donor site	probably null
R2763:Phkg2	UTSW	7	127,179,005 (GRCm39)	missense	probably benign	0.00
R4614:Phkg2	UTSW	7	127,176,792 (GRCm39)	missense	probably damaging	1.00
R4615:Phkg2	UTSW	7	127,176,792 (GRCm39)	missense	probably damaging	1.00
R4616:Phkg2	UTSW	7	127,176,792 (GRCm39)	missense	probably damaging	1.00
R4666:Phkg2	UTSW	7	127,177,156 (GRCm39)	missense	possibly damaging	0.93
R4993:Phkg2	UTSW	7	127,173,113 (GRCm39)	missense	probably damaging	1.00
R5287:Phkg2	UTSW	7	127,181,929 (GRCm39)	frame shift	probably null
R5416:Phkg2	UTSW	7	127,182,107 (GRCm39)	missense	possibly damaging	0.46
R7276:Phkg2	UTSW	7	127,181,558 (GRCm39)	missense	possibly damaging	0.80
R7655:Phkg2	UTSW	7	127,182,074 (GRCm39)	missense	probably damaging	0.99
R7656:Phkg2	UTSW	7	127,182,074 (GRCm39)	missense	probably damaging	0.99
R8504:Phkg2	UTSW	7	127,181,528 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGGAAGTTGATCTGTAAGTCTCTG -3'
(R):5'- TCACAGCGCTCAAAGAAGGG -3'

Sequencing Primer
(F):5'- ATCTGTAAGTCTCTGTGATGCC -3'
(R):5'- TTGCTCAGCTGTCAGGC -3'

Posted On

2016-05-10