Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:Phkb'

216153

Institutional Source

Beutler Lab

Gene Symbol

Phkb

Ensembl Gene

ENSMUSG00000036879

Gene Name

phosphorylase kinase beta

Synonyms

MMRRC Submission

038856-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R0671 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

86567588-86788005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86602322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 38 (W38R)

Ref Sequence

ENSEMBL: ENSMUSP00000125197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053771] [ENSMUST00000160611] [ENSMUST00000161850] [ENSMUST00000162464] [ENSMUST00000162981]

AlphaFold

Q7TSH2

Predicted Effect

probably benign
Transcript: ENSMUST00000053771
AA Change: W38R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: W38R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159882

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160611
AA Change: W38R

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125690
Gene: ENSMUSG00000036879
AA Change: W38R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161850
AA Change: W46R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124939
Gene: ENSMUSG00000036879
AA Change: W46R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162464
AA Change: W38R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125197
Gene: ENSMUSG00000036879
AA Change: W38R

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_15	39	163	7.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162981

Meta Mutation Damage Score

0.7258

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,729,637 (GRCm39)		probably benign	Het
A530064D06Rik	G	A	17: 48,473,824 (GRCm39)	T31I	probably benign	Het
Abca17	A	G	17: 24,500,223 (GRCm39)	F1323L	probably benign	Het
Abcf3	T	A	16: 20,369,237 (GRCm39)	N206K	probably damaging	Het
Adam10	A	G	9: 70,673,223 (GRCm39)		probably benign	Het
Adamtsl3	A	T	7: 82,172,390 (GRCm39)	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,708,752 (GRCm39)	I413N	probably benign	Het
Asb18	G	T	1: 89,920,893 (GRCm39)	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,059,743 (GRCm39)	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672 (GRCm39)	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,178,146 (GRCm39)	E2235G	probably damaging	Het
Blnk	G	T	19: 40,926,111 (GRCm39)	S330*	probably null	Het
Bpnt1	T	G	1: 185,088,808 (GRCm39)	N319K	probably benign	Het
Brip1	G	A	11: 86,043,493 (GRCm39)	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,725,104 (GRCm39)	D288E	probably benign	Het
Calcoco2	A	G	11: 95,998,354 (GRCm39)	V23A	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,386,259 (GRCm39)		probably benign	Het
Cdk12	T	C	11: 98,120,935 (GRCm39)		probably benign	Het
Clec4a3	A	G	6: 122,930,993 (GRCm39)		probably null	Het
Cpne2	T	A	8: 95,274,970 (GRCm39)		probably benign	Het
Cyfip1	T	C	7: 55,573,710 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,675,009 (GRCm39)	H110R	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Defb43	T	A	14: 63,249,287 (GRCm39)	V10D	probably damaging	Het
Dhx36	G	A	3: 62,401,162 (GRCm39)	S368L	possibly damaging	Het
Dock6	G	A	9: 21,715,923 (GRCm39)		probably benign	Het
Elp2	T	C	18: 24,745,499 (GRCm39)		probably benign	Het
Emilin3	A	G	2: 160,750,249 (GRCm39)	L453P	probably damaging	Het
Eml6	A	T	11: 29,755,065 (GRCm39)	D903E	probably benign	Het
Ep300	T	C	15: 81,500,335 (GRCm39)		probably benign	Het
Ep400	G	A	5: 110,836,062 (GRCm39)	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Fbxo42	G	A	4: 140,922,550 (GRCm39)	V239M	probably damaging	Het
Fermt2	T	C	14: 45,706,776 (GRCm39)	D340G	probably benign	Het
Filip1	A	T	9: 79,726,672 (GRCm39)	V649E	probably damaging	Het
Fut8	G	A	12: 77,521,791 (GRCm39)	E477K	probably damaging	Het
Gbp3	G	A	3: 142,271,151 (GRCm39)	G185D	probably benign	Het
Gclc	G	T	9: 77,694,080 (GRCm39)	D345Y	probably damaging	Het
Gfus	A	G	15: 75,800,807 (GRCm39)	V27A	possibly damaging	Het
Gkn2	A	G	6: 87,352,800 (GRCm39)	D43G	possibly damaging	Het
Gnptab	A	G	10: 88,279,166 (GRCm39)		probably benign	Het
Greb1l	C	T	18: 10,474,303 (GRCm39)	T206I	probably damaging	Het
Grk4	A	G	5: 34,905,611 (GRCm39)	N452S	probably benign	Het
Hcn2	G	C	10: 79,570,066 (GRCm39)		probably null	Het
Hpn	T	C	7: 30,808,585 (GRCm39)	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,280,591 (GRCm39)	D3268G	probably damaging	Het
Immt	A	T	6: 71,848,541 (GRCm39)	Q467L	possibly damaging	Het
Kalrn	T	C	16: 33,936,778 (GRCm39)	S1636G	probably benign	Het
Kcnh8	T	A	17: 53,285,141 (GRCm39)	L1037*	probably null	Het
Klhl33	T	C	14: 51,129,851 (GRCm39)	T548A	probably damaging	Het
Klri2	T	C	6: 129,717,171 (GRCm39)	I71V	probably benign	Het
Kmt2c	A	T	5: 25,609,363 (GRCm39)	C254S	probably damaging	Het
Lama3	T	C	18: 12,610,647 (GRCm39)	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,172,350 (GRCm39)	Q1702R	probably damaging	Het
Mga	A	T	2: 119,750,391 (GRCm39)		probably null	Het
Mis18a	A	T	16: 90,517,561 (GRCm39)	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,335,254 (GRCm39)	D83G	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,531,282 (GRCm39)		probably benign	Het
Mrrf	C	T	2: 36,043,710 (GRCm39)	A149V	probably benign	Het
Mycbp2	A	T	14: 103,432,024 (GRCm39)	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,840,632 (GRCm39)	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,964,780 (GRCm39)	I943T	probably damaging	Het
Ncapd3	T	A	9: 26,998,773 (GRCm39)	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,299,758 (GRCm39)		probably null	Het
Ncor2	C	T	5: 125,126,451 (GRCm39)	A136T	probably benign	Het
Opa1	T	C	16: 29,421,025 (GRCm39)		probably benign	Het
Or13a25	A	G	7: 140,247,590 (GRCm39)	D123G	probably damaging	Het
Or5p59	C	A	7: 107,703,363 (GRCm39)	Y282*	probably null	Het
Or8b39	T	A	9: 37,996,423 (GRCm39)	M97K	possibly damaging	Het
Or9e1	T	A	11: 58,732,681 (GRCm39)	I247N	possibly damaging	Het
Pcdhb4	T	C	18: 37,440,795 (GRCm39)	M35T	probably benign	Het
Per3	T	C	4: 151,113,288 (GRCm39)	I347V	probably benign	Het
Pex13	G	A	11: 23,615,831 (GRCm39)	P5L	possibly damaging	Het
Plekhf1	A	T	7: 37,920,826 (GRCm39)	D247E	probably benign	Het
Plxnb2	A	G	15: 89,042,184 (GRCm39)	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,635,194 (GRCm39)	H1344L	possibly damaging	Het
Potefam1	A	C	2: 111,034,482 (GRCm39)	V350G	possibly damaging	Het
Ptk7	T	G	17: 46,901,238 (GRCm39)	N196H	possibly damaging	Het
Rab27a	G	T	9: 72,982,715 (GRCm39)	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505 (GRCm39)	C82*	probably null	Het
Rccd1	A	T	7: 79,969,965 (GRCm39)		probably benign	Het
Riiad1	T	C	3: 94,379,546 (GRCm39)	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,342,507 (GRCm39)	E77G	probably damaging	Het
Rnf126	A	T	10: 79,597,441 (GRCm39)	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,391,925 (GRCm39)	R623G	probably benign	Het
Rpusd1	T	G	17: 25,947,498 (GRCm39)	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,570,600 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,459,411 (GRCm39)	Q324L	probably benign	Het
Skint3	G	T	4: 112,112,974 (GRCm39)	E195*	probably null	Het
Slc7a10	A	T	7: 34,896,758 (GRCm39)	T165S	probably benign	Het
Smagp	A	G	15: 100,519,733 (GRCm39)	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,367,340 (GRCm39)	H172R	probably damaging	Het
Spast	A	G	17: 74,646,446 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,467,325 (GRCm39)		probably benign	Het
Ston2	C	T	12: 91,707,240 (GRCm39)		probably null	Het
Tas2r103	T	G	6: 133,013,313 (GRCm39)	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,104,558 (GRCm39)		probably benign	Het
Telo2	G	A	17: 25,332,139 (GRCm39)	P143L	probably benign	Het
Tgfbi	A	T	13: 56,786,539 (GRCm39)	Y674F	probably null	Het
Tha1	T	A	11: 117,763,983 (GRCm39)		probably benign	Het
Timp4	T	A	6: 115,226,814 (GRCm39)	S110C	probably damaging	Het
Tlr6	T	C	5: 65,111,935 (GRCm39)	K324R	probably benign	Het
Tnip3	A	G	6: 65,574,347 (GRCm39)	E137G	probably damaging	Het
Top6bl	A	G	19: 4,676,216 (GRCm39)	S639P	probably damaging	Het
Trak1	T	C	9: 121,278,021 (GRCm39)		probably null	Het
Trim47	A	G	11: 115,999,178 (GRCm39)	S233P	probably benign	Het
Tspoap1	A	T	11: 87,653,635 (GRCm39)	E155V	probably damaging	Het
Uggt1	A	T	1: 36,194,209 (GRCm39)	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,642,452 (GRCm39)	S117P	probably benign	Het
Vmn1r124	A	T	7: 20,994,436 (GRCm39)	V36D	probably damaging	Het
Wdr27	T	C	17: 15,148,658 (GRCm39)	T112A	probably benign	Het
Wdr90	T	C	17: 26,065,367 (GRCm39)	T1630A	probably benign	Het
Zfp352	A	G	4: 90,112,156 (GRCm39)	T99A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTTGGTGGGTGGAAGACAGCAT -3'
(R):5'- ATGGGCCAGGTATGACCTGTGGAT -3'

Sequencing Primer
(F):5'- CCAGGAATCAATAGGGTCATTCAG -3'
(R):5'- GTGGATTCCCTTTAACAGTCCAG -3'

Posted On

2014-07-25