Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Phkb'

212847

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86567588-86788005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86648790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 202 (E202G)

Ref Sequence

ENSEMBL: ENSMUSP00000050788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053771] [ENSMUST00000160611] [ENSMUST00000161850]

AlphaFold

Q7TSH2

Predicted Effect

probably benign
Transcript: ENSMUST00000053771
AA Change: E202G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: E202G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159882

Predicted Effect

probably benign
Transcript: ENSMUST00000160611

SMART Domains

Protein: ENSMUSP00000125690
Gene: ENSMUSG00000036879

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	39	164	3.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161850

SMART Domains

Protein: ENSMUSP00000124939
Gene: ENSMUSG00000036879

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	47	206	3.9e-40	PFAM

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,031 (GRCm39)	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 35,817,414 (GRCm39)	V105F	possibly damaging	Het
Actr10	A	G	12: 70,989,104 (GRCm39)	I74M	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Afm	A	T	5: 90,672,779 (GRCm39)	K205*	probably null	Het
Ankrd27	T	A	7: 35,332,410 (GRCm39)	S846T	probably benign	Het
Ano3	A	G	2: 110,715,352 (GRCm39)	S29P	probably benign	Het
Apaf1	C	T	10: 90,913,476 (GRCm39)	W138*	probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgef4	A	G	1: 34,850,221 (GRCm39)	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,337,541 (GRCm39)	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,092,340 (GRCm39)	T70I	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bltp1	A	G	3: 37,061,132 (GRCm39)		probably null	Het
Bspry	T	A	4: 62,413,034 (GRCm39)	C256S	probably damaging	Het
C3	C	A	17: 57,527,135 (GRCm39)	W771C	probably damaging	Het
Camkv	A	G	9: 107,824,287 (GRCm39)	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,942,548 (GRCm39)	V109E	probably damaging	Het
Cd101	A	G	3: 100,926,233 (GRCm39)	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,283,603 (GRCm39)	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,516,457 (GRCm39)	Q380E	probably benign	Het
Col6a3	T	C	1: 90,750,081 (GRCm39)	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,918,594 (GRCm39)	V82A	possibly damaging	Het
Cux1	G	A	5: 136,392,173 (GRCm39)	Q194*	probably null	Het
Daam2	T	C	17: 49,792,485 (GRCm39)	E361G	probably benign	Het
Dcaf17	A	T	2: 70,908,516 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,570,020 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993 (GRCm39)	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969 (GRCm39)	M988T	possibly damaging	Het
Fancm	T	C	12: 65,152,294 (GRCm39)	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gm3604	G	T	13: 62,517,756 (GRCm39)	H201N	probably benign	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpatch8	A	G	11: 102,398,968 (GRCm39)		probably null	Het
H2-M3	T	C	17: 37,582,080 (GRCm39)	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,781,385 (GRCm39)	S62R	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hrg	A	T	16: 22,773,207 (GRCm39)	Q113H	probably damaging	Het
Kcnj16	T	C	11: 110,915,779 (GRCm39)	V147A	possibly damaging	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,731,642 (GRCm39)		probably benign	Het
Krt90	A	T	15: 101,465,665 (GRCm39)	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,476,671 (GRCm39)	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,618,741 (GRCm39)	T225K	probably benign	Het
Map1a	C	T	2: 121,137,493 (GRCm39)	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,119,600 (GRCm39)	D193G	probably benign	Het
Mpped2	T	A	2: 106,697,377 (GRCm39)	I284N	probably damaging	Het
Msh6	A	G	17: 88,292,553 (GRCm39)	H436R	probably benign	Het
Mterf3	A	T	13: 67,078,126 (GRCm39)	S48T	probably damaging	Het
Muc5b	T	C	7: 141,399,768 (GRCm39)	F414L	unknown	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Nherf4	T	C	9: 44,161,600 (GRCm39)	D93G	possibly damaging	Het
Nploc4	A	G	11: 120,295,055 (GRCm39)	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578 (GRCm39)	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,404,452 (GRCm39)	T397A	probably benign	Het
Ntsr2	A	T	12: 16,704,111 (GRCm39)	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,963,523 (GRCm39)	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,843,618 (GRCm39)	V105A	possibly damaging	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Parp3	T	A	9: 106,352,316 (GRCm39)	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,861,474 (GRCm39)	S936P	probably damaging	Het
Pink1	T	C	4: 138,041,331 (GRCm39)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm39)	D338G	probably damaging	Het
Prss8	G	T	7: 127,529,030 (GRCm39)	L9I	probably benign	Het
Ptpn22	G	A	3: 103,784,054 (GRCm39)		probably null	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Rasef	A	G	4: 73,662,351 (GRCm39)	S200P	possibly damaging	Het
Rb1	T	A	14: 73,450,430 (GRCm39)	K645*	probably null	Het
Robo2	C	T	16: 73,696,042 (GRCm39)	G1367D	probably benign	Het
Rp1	A	G	1: 4,422,894 (GRCm39)	V52A	probably damaging	Het
Samd13	T	C	3: 146,368,467 (GRCm39)	T23A	probably benign	Het
Scn7a	T	C	2: 66,530,317 (GRCm39)	H676R	probably damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Slc2a8	T	C	2: 32,870,091 (GRCm39)	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,937,196 (GRCm39)	R88L	probably damaging	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Slit2	C	A	5: 48,348,358 (GRCm39)		probably benign	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Sptlc3	A	G	2: 139,408,595 (GRCm39)	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,465,353 (GRCm39)	T334I	probably damaging	Het
Syt5	G	T	7: 4,543,278 (GRCm39)	T327N	probably damaging	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tnks	A	T	8: 35,342,386 (GRCm39)	V388D	probably damaging	Het
Ugt2b1	T	C	5: 87,073,859 (GRCm39)	T167A	probably benign	Het
Usp40	G	A	1: 87,923,564 (GRCm39)	R236C	possibly damaging	Het
Utrn	T	C	10: 12,331,224 (GRCm39)	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,689,969 (GRCm39)	S282P	possibly damaging	Het
Vps45	T	C	3: 95,953,752 (GRCm39)	E200G	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	probably 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
IGL02693:Phkb	APN	8	86,668,863 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGAGGACTCATCGTAATG -3'
(R):5'- AGCTGTACTAGAATCAACAGAGAC -3'

Sequencing Primer
(F):5'- GACCAGAAGTTCAAGGTCATCTTTGG -3'
(R):5'- TGTACTAGAATCAACAGAGACAACAG -3'

Posted On

2014-07-14