Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02693:Phkb'

303824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

IGL02693

Quality Score

Status

Chromosome

Chromosomal Location

86567588-86788005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86668863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 297 (F297V)

Ref Sequence

ENSEMBL: ENSMUSP00000050788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053771]

AlphaFold

Q7TSH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000053771
AA Change: F297V

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

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: F297V

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	39	870	1.5e-111	PFAM

Coding Region Coverage

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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,666,506 (GRCm39)	D271G	probably damaging	Het
Agl	A	T	3: 116,540,077 (GRCm39)	V1478E	possibly damaging	Het
Ckap5	C	T	2: 91,400,556 (GRCm39)	P636L	probably damaging	Het
Cnot1	A	G	8: 96,500,113 (GRCm39)	V127A	probably damaging	Het
Cs	A	G	10: 128,185,678 (GRCm39)		probably benign	Het
Fbln1	G	A	15: 85,113,775 (GRCm39)	E170K	probably benign	Het
Gm5866	A	T	5: 52,740,558 (GRCm39)		noncoding transcript	Het
Lpin3	T	C	2: 160,746,975 (GRCm39)	V794A	probably damaging	Het
Ly86	T	G	13: 37,559,005 (GRCm39)	I68S	probably damaging	Het
Mrps34	A	G	17: 25,114,172 (GRCm39)	I11V	probably benign	Het
Nsmce4a	A	G	7: 130,144,538 (GRCm39)	S122P	probably damaging	Het
Olfm1	A	G	2: 28,102,662 (GRCm39)	E112G	probably damaging	Het
Or5w20	T	G	2: 87,726,877 (GRCm39)	C111W	probably damaging	Het
Parp9	A	G	16: 35,777,340 (GRCm39)	E428G	probably benign	Het
Pianp	T	G	6: 124,978,598 (GRCm39)	F268V	possibly damaging	Het
Polr1a	T	C	6: 71,940,830 (GRCm39)		probably benign	Het
Prune2	G	A	19: 17,101,855 (GRCm39)	G2453E	probably benign	Het
Ptpn4	T	C	1: 119,643,699 (GRCm39)	N350D	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rfc4	A	G	16: 22,932,960 (GRCm39)	S326P	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc35f1	A	T	10: 52,809,224 (GRCm39)	L70F	probably damaging	Het
Slc5a7	T	C	17: 54,583,947 (GRCm39)	T448A	probably benign	Het
Spata31h1	T	C	10: 82,121,092 (GRCm39)	I3973V	probably benign	Het
Spmip9	C	A	6: 70,890,488 (GRCm39)	R101S	possibly damaging	Het
Stoml1	T	A	9: 58,164,359 (GRCm39)	I149N	probably damaging	Het
Sytl1	A	T	4: 132,985,057 (GRCm39)	C180S	probably benign	Het
Traf6	T	C	2: 101,518,850 (GRCm39)	L113P	possibly damaging	Het
Trappc9	A	G	15: 72,835,542 (GRCm39)		probably benign	Het
Tubg2	T	C	11: 101,051,725 (GRCm39)	Y317H	probably damaging	Het
Zfp334	T	C	2: 165,222,433 (GRCm39)	T537A	possibly damaging	Het

Other mutations in Phkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Phkb	APN	8	86,684,216 (GRCm39)	missense	probably benign	0.42
IGL01126:Phkb	APN	8	86,672,730 (GRCm39)	missense	probably benign	0.12
IGL01700:Phkb	APN	8	86,744,094 (GRCm39)	missense	probably benign	0.06
IGL01761:Phkb	APN	8	86,745,693 (GRCm39)	missense	probably benign	0.01
IGL02404:Phkb	APN	8	86,604,744 (GRCm39)	missense	possibly damaging	0.94
IGL02672:Phkb	APN	8	86,668,987 (GRCm39)	missense	probably benign
IGL02682:Phkb	APN	8	86,602,275 (GRCm39)	makesense	probably null
IGL02798:Phkb	APN	8	86,770,406 (GRCm39)	missense	probably benign
IGL02888:Phkb	APN	8	86,662,101 (GRCm39)	critical splice donor site	probably null
IGL03106:Phkb	APN	8	86,745,095 (GRCm39)	splice site	probably benign
PIT4544001:Phkb	UTSW	8	86,738,266 (GRCm39)	missense	probably benign	0.42
R0088:Phkb	UTSW	8	86,669,020 (GRCm39)	critical splice donor site	probably null
R0107:Phkb	UTSW	8	86,743,560 (GRCm39)	missense	probably benign	0.01
R0504:Phkb	UTSW	8	86,783,153 (GRCm39)	missense	probably benign
R0569:Phkb	UTSW	8	86,744,031 (GRCm39)	missense	probably damaging	1.00
R0671:Phkb	UTSW	8	86,602,322 (GRCm39)	missense	probably damaging	0.97
R0894:Phkb	UTSW	8	86,744,070 (GRCm39)	missense	probably damaging	1.00
R1491:Phkb	UTSW	8	86,602,286 (GRCm39)	missense	possibly damaging	0.90
R1502:Phkb	UTSW	8	86,785,968 (GRCm39)	missense	possibly damaging	0.69
R1595:Phkb	UTSW	8	86,753,182 (GRCm39)	splice site	probably benign
R1686:Phkb	UTSW	8	86,748,278 (GRCm39)	missense	probably benign
R1913:Phkb	UTSW	8	86,628,549 (GRCm39)	missense	possibly damaging	0.95
R1919:Phkb	UTSW	8	86,648,790 (GRCm39)	missense	probably benign	0.17
R1968:Phkb	UTSW	8	86,697,580 (GRCm39)	missense	probably benign	0.07
R2008:Phkb	UTSW	8	86,783,096 (GRCm39)	missense	probably damaging	1.00
R2051:Phkb	UTSW	8	86,776,450 (GRCm39)	critical splice donor site	probably null
R2148:Phkb	UTSW	8	86,744,115 (GRCm39)	missense	probably damaging	0.96
R2305:Phkb	UTSW	8	86,770,431 (GRCm39)	missense	possibly damaging	0.80
R3801:Phkb	UTSW	8	86,648,858 (GRCm39)	nonsense	probably null
R3804:Phkb	UTSW	8	86,648,858 (GRCm39)	nonsense	probably null
R4159:Phkb	UTSW	8	86,748,162 (GRCm39)	splice site	probably null
R4624:Phkb	UTSW	8	86,575,341 (GRCm39)	intron	probably benign
R4833:Phkb	UTSW	8	86,628,540 (GRCm39)	missense	probably damaging	1.00
R5017:Phkb	UTSW	8	86,776,438 (GRCm39)	missense	probably benign
R5169:Phkb	UTSW	8	86,623,120 (GRCm39)	missense	probably benign	0.01
R5337:Phkb	UTSW	8	86,604,874 (GRCm39)	missense	probably damaging	1.00
R5391:Phkb	UTSW	8	86,744,097 (GRCm39)	missense	probably damaging	1.00
R5395:Phkb	UTSW	8	86,744,097 (GRCm39)	missense	probably damaging	1.00
R5480:Phkb	UTSW	8	86,648,811 (GRCm39)	missense	probably damaging	1.00
R5538:Phkb	UTSW	8	86,648,756 (GRCm39)	missense	possibly damaging	0.80
R5623:Phkb	UTSW	8	86,569,677 (GRCm39)	unclassified	probably benign
R5753:Phkb	UTSW	8	86,604,859 (GRCm39)	missense	probably damaging	1.00
R5909:Phkb	UTSW	8	86,748,076 (GRCm39)	critical splice donor site	probably null
R5929:Phkb	UTSW	8	86,697,543 (GRCm39)	missense	probably benign	0.01
R6093:Phkb	UTSW	8	86,668,958 (GRCm39)	missense	probably damaging	1.00
R6320:Phkb	UTSW	8	86,602,327 (GRCm39)	missense	probably benign	0.00
R6324:Phkb	UTSW	8	86,745,171 (GRCm39)	missense	probably benign	0.00
R6626:Phkb	UTSW	8	86,648,780 (GRCm39)	missense	probably damaging	0.96
R6687:Phkb	UTSW	8	86,756,175 (GRCm39)	missense	probably damaging	1.00
R6848:Phkb	UTSW	8	86,756,246 (GRCm39)	missense	probably damaging	0.99
R7228:Phkb	UTSW	8	86,569,636 (GRCm39)	unclassified	probably benign
R7260:Phkb	UTSW	8	86,604,759 (GRCm39)	missense	probably benign	0.07
R7271:Phkb	UTSW	8	86,770,418 (GRCm39)	missense	probably damaging	1.00
R7314:Phkb	UTSW	8	86,669,021 (GRCm39)	splice site	probably null
R7586:Phkb	UTSW	8	86,756,226 (GRCm39)	missense	probably damaging	1.00
R7654:Phkb	UTSW	8	86,667,516 (GRCm39)	missense	possibly damaging	0.91
R7958:Phkb	UTSW	8	86,748,292 (GRCm39)	missense	probably benign	0.00
R8269:Phkb	UTSW	8	86,756,211 (GRCm39)	missense	probably benign	0.42
R8811:Phkb	UTSW	8	86,745,156 (GRCm39)	missense	possibly damaging	0.58
R8967:Phkb	UTSW	8	86,756,063 (GRCm39)	intron	probably benign
R9176:Phkb	UTSW	8	86,697,623 (GRCm39)	missense	probably damaging	0.96
R9350:Phkb	UTSW	8	86,743,493 (GRCm39)	nonsense	probably null
R9465:Phkb	UTSW	8	86,623,059 (GRCm39)	missense	probably damaging	1.00
R9480:Phkb	UTSW	8	86,684,216 (GRCm39)	missense	probably benign	0.42
R9490:Phkb	UTSW	8	86,628,525 (GRCm39)	missense	probably damaging	0.97
R9700:Phkb	UTSW	8	86,567,696 (GRCm39)	missense	probably benign	0.01
R9708:Phkb	UTSW	8	86,783,119 (GRCm39)	missense	probably benign	0.02
R9716:Phkb	UTSW	8	86,604,798 (GRCm39)	missense	probably null	0.00
X0021:Phkb	UTSW	8	86,756,264 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16