Mutagenetix > Incidental Mutation

Incidental Mutation 'R1913:Phkb'

214573

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

039931-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R1913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86567588-86788005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86628549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 186 (I186N)

Ref Sequence

ENSEMBL: ENSMUSP00000124939 (fasta)

Gene Model

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

AlphaFold

Q7TSH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053771
AA Change: I178N

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: I178N

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

possibly damaging
Transcript: ENSMUST00000161850
AA Change: I186N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124939
Gene: ENSMUSG00000036879
AA Change: I186N

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: 95.6%
20x: 93.4%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,463 (GRCm39)	I1588F	probably benign	Het
Abcc2	A	T	19: 43,795,683 (GRCm39)	T480S	probably benign	Het
Acnat1	A	G	4: 49,447,498 (GRCm39)	I361T	probably damaging	Het
Adamts10	A	T	17: 33,768,529 (GRCm39)	H869L	probably benign	Het
Agpat5	T	C	8: 18,929,629 (GRCm39)	C253R	probably benign	Het
Agtrap	T	A	4: 148,168,434 (GRCm39)	H15L	probably damaging	Het
Ahnak	T	A	19: 8,985,286 (GRCm39)	V2190E	probably damaging	Het
Alx4	A	G	2: 93,505,732 (GRCm39)	E278G	probably damaging	Het
Amz2	T	C	11: 109,319,697 (GRCm39)	S28P	probably damaging	Het
Atr	T	A	9: 95,748,786 (GRCm39)	Y444N	probably benign	Het
Brdt	T	C	5: 107,496,479 (GRCm39)	I197T	probably benign	Het
Ccser1	G	T	6: 62,356,878 (GRCm39)	S772I	probably damaging	Het
Cdh16	T	C	8: 105,343,100 (GRCm39)	H657R	probably benign	Het
Ceacam5	A	T	7: 17,493,502 (GRCm39)	K842*	probably null	Het
Cep120	G	A	18: 53,856,358 (GRCm39)	T353I	probably benign	Het
Chrnb1	T	C	11: 69,684,410 (GRCm39)	N164S	possibly damaging	Het
Cse1l	T	C	2: 166,764,111 (GRCm39)	F123L	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dcx	G	C	X: 142,706,099 (GRCm39)	L231V	probably damaging	Het
Dnah12	T	C	14: 26,514,221 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,355,756 (GRCm39)	M2227K	probably damaging	Het
Dnajc30	G	A	5: 135,093,186 (GRCm39)	A28T	probably benign	Het
Dnm1l	T	C	16: 16,147,830 (GRCm39)	T306A	probably benign	Het
Elapor2	T	G	5: 9,316,275 (GRCm39)	L2R	probably damaging	Het
Enpp3	C	A	10: 24,652,669 (GRCm39)	E763*	probably null	Het
Esyt3	T	C	9: 99,202,364 (GRCm39)	S516G	probably benign	Het
Exoc3	T	C	13: 74,330,435 (GRCm39)	Q498R	probably damaging	Het
Fbn2	T	A	18: 58,194,814 (GRCm39)	N1449I	probably damaging	Het
Fgb	T	C	3: 82,952,287 (GRCm39)	D194G	probably benign	Het
Fgd3	T	C	13: 49,417,324 (GRCm39)	D713G	possibly damaging	Het
Foxb1	T	A	9: 69,667,383 (GRCm39)	Y49F	possibly damaging	Het
Fpr3	A	G	17: 18,191,670 (GRCm39)	I314V	probably damaging	Het
Gfod1	A	T	13: 43,456,921 (GRCm39)	I18N	probably damaging	Het
Gm5407	T	C	16: 49,117,283 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,782,949 (GRCm39)	F334L	possibly damaging	Het
Gucy2d	G	T	7: 98,093,054 (GRCm39)	V144F	probably benign	Het
H2-M10.5	C	A	17: 37,085,660 (GRCm39)	P273H	probably damaging	Het
H2-T13	T	A	17: 36,391,908 (GRCm39)	K237M	probably damaging	Het
Hcn2	A	G	10: 79,566,777 (GRCm39)	M485V	probably benign	Het
Helz2	G	T	2: 180,875,543 (GRCm39)	S1650R	probably damaging	Het
Ifnar2	T	C	16: 91,201,058 (GRCm39)	V433A	probably benign	Het
Igsf21	T	A	4: 139,834,623 (GRCm39)	Y83F	probably benign	Het
Kcnk18	A	G	19: 59,223,490 (GRCm39)	I212V	possibly damaging	Het
Kcns2	T	C	15: 34,839,855 (GRCm39)	I406T	probably damaging	Het
Krt42	C	T	11: 100,158,075 (GRCm39)	V166M	possibly damaging	Het
Lama3	T	C	18: 12,628,336 (GRCm39)	M1476T	probably benign	Het
Lcor	A	G	19: 41,546,913 (GRCm39)	R166G	probably benign	Het
Mapt	C	T	11: 104,218,901 (GRCm39)	P354L	probably damaging	Het
Mep1b	A	T	18: 21,226,286 (GRCm39)	I383F	probably benign	Het
Mpzl1	C	A	1: 165,429,374 (GRCm39)	C222F	probably benign	Het
Mug2	T	C	6: 122,047,829 (GRCm39)	L780P	probably damaging	Het
Naip2	C	T	13: 100,288,665 (GRCm39)		probably null	Het
Ndufab1	T	C	7: 121,695,914 (GRCm39)	D41G	probably benign	Het
Ntn1	A	G	11: 68,104,011 (GRCm39)	C546R	probably damaging	Het
Or2a5	T	A	6: 42,873,687 (GRCm39)	F101I	probably damaging	Het
Pakap	A	G	4: 57,892,963 (GRCm39)	E880G	probably damaging	Het
Pde6b	A	G	5: 108,575,056 (GRCm39)	E639G	probably benign	Het
Phf10	T	C	17: 15,177,071 (GRCm39)	T83A	probably benign	Het
Pkhd1	A	G	1: 20,636,980 (GRCm39)		probably null	Het
Plxnd1	C	A	6: 115,954,978 (GRCm39)	A595S	possibly damaging	Het
Ppara	T	A	15: 85,685,300 (GRCm39)	H416Q	probably damaging	Het
Prodh	T	A	16: 17,898,891 (GRCm39)	D188V	probably damaging	Het
Psmd14	A	T	2: 61,615,800 (GRCm39)	K223M	possibly damaging	Het
Ptpn5	A	G	7: 46,728,616 (GRCm39)	M528T	possibly damaging	Het
Rassf9	G	A	10: 102,380,800 (GRCm39)	E59K	probably benign	Het
Rnf2	A	T	1: 151,351,936 (GRCm39)	L140H	probably damaging	Het
Scai	A	G	2: 38,970,093 (GRCm39)	F557S	probably damaging	Het
Sdk2	A	G	11: 113,747,552 (GRCm39)	S653P	possibly damaging	Het
Sec24c	A	G	14: 20,739,179 (GRCm39)	D534G	probably benign	Het
Semp2l2a	T	A	8: 13,887,143 (GRCm39)	Q316L	probably benign	Het
Septin4	T	C	11: 87,457,838 (GRCm39)	S71P	probably benign	Het
Serinc1	A	G	10: 57,395,561 (GRCm39)	V375A	probably benign	Het
Serpinb9f	C	T	13: 33,509,829 (GRCm39)	A7V	probably damaging	Het
Smco1	T	C	16: 32,092,700 (GRCm39)	S124P	probably damaging	Het
Smim23	C	A	11: 32,774,441 (GRCm39)	C26F	possibly damaging	Het
Sppl2c	T	A	11: 104,078,715 (GRCm39)	M505K	probably benign	Het
Sprr1b	C	A	3: 92,344,775 (GRCm39)	V34F	possibly damaging	Het
Sun1	G	A	5: 139,221,487 (GRCm39)		probably null	Het
Supt16	A	G	14: 52,415,592 (GRCm39)	L381P	possibly damaging	Het
Syne2	A	G	12: 75,946,020 (GRCm39)	D364G	possibly damaging	Het
Tax1bp1	G	T	6: 52,742,937 (GRCm39)	V775F	probably damaging	Het
Tial1	T	A	7: 128,046,383 (GRCm39)	I231F	probably damaging	Het
Tiam1	C	A	16: 89,595,582 (GRCm39)	V1300L	probably damaging	Het
Tmem132e	A	G	11: 82,334,243 (GRCm39)	T585A	probably damaging	Het
Tnni3k	C	T	3: 154,684,836 (GRCm39)	A165T	probably benign	Het
Tomm40	A	T	7: 19,444,886 (GRCm39)	I165N	probably damaging	Het
Tomt	T	C	7: 101,550,454 (GRCm39)	E104G	probably damaging	Het
Topaz1	T	C	9: 122,596,078 (GRCm39)	S950P	possibly damaging	Het
Traf3ip2	C	G	10: 39,501,936 (GRCm39)	P28R	probably benign	Het
Trim24	C	T	6: 37,934,750 (GRCm39)	P822S	probably damaging	Het
Upf3a	T	G	8: 13,842,108 (GRCm39)	Y175D	probably damaging	Het
Vars2	G	A	17: 35,977,814 (GRCm39)	P69S	probably benign	Het
Veph1	T	C	3: 66,151,976 (GRCm39)	Y151C	probably damaging	Het
Vmn2r11	T	A	5: 109,202,654 (GRCm39)	D141V	probably benign	Het
Vwa5b1	G	A	4: 138,319,331 (GRCm39)	Q442*	probably null	Het
Wdr17	T	A	8: 55,140,761 (GRCm39)	D197V	probably damaging	Het
Wdr70	G	T	15: 7,913,891 (GRCm39)	T586N	possibly damaging	Het
Wfdc18	G	A	11: 83,600,754 (GRCm39)	G52R	probably benign	Het
Zc3h6	T	C	2: 128,858,540 (GRCm39)	I857T	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp318	GAAGAA	GAAGAACAAGAA	17: 46,723,450 (GRCm39)		probably benign	Het
Zfp647	C	T	15: 76,796,151 (GRCm39)	V170I	probably benign	Het
Zfp871	T	C	17: 32,994,891 (GRCm39)	N76D	possibly damaging	Het
Zpld2	A	G	4: 133,919,986 (GRCm39)		probably null	Het
Zwilch	A	G	9: 64,068,234 (GRCm39)	Y194H	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGGCTTCCATTAGGTTCATTT -3'
(R):5'- TGAAACCATTCATTTCATACACCAAA -3'

Sequencing Primer
(F):5'- CTGACACTATTGGAGAAAATGA -3'
(R):5'- CATTCATCTTTTATCAAACT -3'

Posted On

2014-07-14