Mutagenetix > Incidental Mutation

Incidental Mutation 'R9781:Phkg1'

734041

Institutional Source

Beutler Lab

Gene Symbol

Phkg1

Ensembl Gene

ENSMUSG00000025537

Gene Name

phosphorylase kinase gamma 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129892272-129907953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129895807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 148 (H148L)

Ref Sequence

ENSEMBL: ENSMUSP00000026617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026617] [ENSMUST00000137357] [ENSMUST00000140667] [ENSMUST00000154932] [ENSMUST00000171300]

AlphaFold

P07934

Predicted Effect

probably damaging
Transcript: ENSMUST00000026617
AA Change: H148L

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

SMART Domains

Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: H148L

Domain	Start	End	E-Value	Type
S_TKc	20	288	3.79e-106	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137357

SMART Domains

Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:FGE-sulfatase	25	136	6.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140667

SMART Domains

Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	20	143	4.1e-9	PFAM
Pfam:Pkinase	20	144	3.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154932
AA Change: H42L

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

SMART Domains

Protein: ENSMUSP00000122040
Gene: ENSMUSG00000025537
AA Change: H42L

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	95	3.6e-13	PFAM
Pfam:Pkinase	1	100	7.3e-32	PFAM
Pfam:Kdo	3	77	8.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171300

SMART Domains

Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:FGE-sulfatase	34	299	3.9e-88	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,519,860 (GRCm39)	F1386L	probably benign	Het
Aoc1l2	G	A	6: 48,907,660 (GRCm39)	S220N	possibly damaging	Het
Ap3d1	A	C	10: 80,545,609 (GRCm39)	L1040R	possibly damaging	Het
Bag4	T	A	8: 26,259,564 (GRCm39)	N212Y	probably damaging	Het
Bop1	A	T	15: 76,338,041 (GRCm39)	S610T	probably damaging	Het
Car12	T	G	9: 66,624,844 (GRCm39)	S30A	probably benign	Het
Ccdc14	A	T	16: 34,543,984 (GRCm39)	T829S	possibly damaging	Het
Ccn6	T	A	10: 39,027,167 (GRCm39)	*355L	probably null	Het
Cdc14a	A	T	3: 116,122,274 (GRCm39)	I231N	probably benign	Het
Ceacam14	A	T	7: 17,549,082 (GRCm39)	I158F	possibly damaging	Het
Clca4a	G	T	3: 144,667,713 (GRCm39)	S419R	probably benign	Het
Clec2g	A	G	6: 128,960,012 (GRCm39)	N258D	probably benign	Het
Cntn5	A	C	9: 10,048,686 (GRCm39)		probably null	Het
Col5a3	T	A	9: 20,721,272 (GRCm39)	S72C	unknown	Het
Dmbt1	G	C	7: 130,639,599 (GRCm39)	V46L	probably benign	Het
Dnah7b	A	G	1: 46,376,754 (GRCm39)		probably null	Het
Dnase1	T	C	16: 3,857,054 (GRCm39)	S204P	probably benign	Het
Dnhd1	A	G	7: 105,352,917 (GRCm39)	E2690G	probably benign	Het
Dst	T	C	1: 34,218,075 (GRCm39)	L1505P	probably benign	Het
Dzip1	G	A	14: 119,148,834 (GRCm39)	L282F	probably benign	Het
E330034G19Rik	A	G	14: 24,359,528 (GRCm39)	E313G	unknown	Het
Epc1	A	T	18: 6,455,187 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,280,004 (GRCm39)	M304T	probably benign	Het
Herc2	A	T	7: 55,750,096 (GRCm39)	I594F	possibly damaging	Het
Hivep2	T	A	10: 14,005,828 (GRCm39)	S809T	probably benign	Het
Hnrnph3	A	T	10: 62,853,861 (GRCm39)	M132K	unknown	Het
Hrnr	A	T	3: 93,239,696 (GRCm39)	R3311S	unknown	Het
Jph3	T	C	8: 122,457,380 (GRCm39)	F7L	probably damaging	Het
Med13l	C	T	5: 118,868,032 (GRCm39)	T732M	possibly damaging	Het
Mocos	A	T	18: 24,828,939 (GRCm39)	H748L	probably benign	Het
Mrc1	A	G	2: 14,249,100 (GRCm39)	H212R	probably benign	Het
Mrc1	A	T	2: 14,310,175 (GRCm39)	Y812F	possibly damaging	Het
Mthfr	T	C	4: 148,132,710 (GRCm39)	I296T	probably damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Nefh	G	A	11: 4,895,271 (GRCm39)	T306I	probably damaging	Het
Nme7	C	A	1: 164,155,890 (GRCm39)	A30E	possibly damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Pappa	T	A	4: 65,043,104 (GRCm39)	L109Q	possibly damaging	Het
Pcdha2	A	G	18: 37,074,102 (GRCm39)	S578G	probably benign	Het
Pcf11	A	T	7: 92,297,228 (GRCm39)	D1361E	possibly damaging	Het
Pcm1	T	C	8: 41,720,398 (GRCm39)	S320P	probably damaging	Het
Pex19	T	A	1: 171,956,855 (GRCm39)	F105Y	probably damaging	Het
Pgap4	C	T	4: 49,586,890 (GRCm39)	V93I	probably benign	Het
Pggt1b	A	T	18: 46,392,779 (GRCm39)	M124K	probably damaging	Het
Phlpp2	G	T	8: 110,662,178 (GRCm39)	R855L	possibly damaging	Het
Pkhd1	T	A	1: 20,187,665 (GRCm39)	I3548L	possibly damaging	Het
Plce1	T	G	19: 38,513,654 (GRCm39)	S318A	probably damaging	Het
Plcxd2	A	G	16: 45,830,117 (GRCm39)	W35R	probably benign	Het
Prl2b1	T	A	13: 27,569,129 (GRCm39)	E156D	possibly damaging	Het
Ptpn21	A	G	12: 98,655,170 (GRCm39)	V599A	probably damaging	Het
Raly	T	C	2: 154,699,265 (GRCm39)	V23A	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rhbdl1	A	G	17: 26,055,443 (GRCm39)	V48A	probably benign	Het
Rhpn1	C	T	15: 75,582,543 (GRCm39)	Q212*	probably null	Het
Sec24b	G	T	3: 129,789,742 (GRCm39)	P760T	probably damaging	Het
Septin8	C	A	11: 53,422,889 (GRCm39)	Q33K	probably damaging	Het
Serpinb6a	T	C	13: 34,109,346 (GRCm39)	T150A	probably benign	Het
Shmt1	A	T	11: 60,692,329 (GRCm39)	H142Q	probably damaging	Het
Slc27a3	G	A	3: 90,296,591 (GRCm39)	S127L		Het
Slc4a5	G	A	6: 83,239,466 (GRCm39)	A242T	probably benign	Het
Sphkap	G	A	1: 83,255,772 (GRCm39)	T659I	possibly damaging	Het
Ssbp3	T	C	4: 106,905,224 (GRCm39)	S381P	probably damaging	Het
Stxbp5l	C	T	16: 37,165,485 (GRCm39)	D78N	probably benign	Het
Suv39h2	G	T	2: 3,463,631 (GRCm39)	Q362K	probably benign	Het
Tcerg1	G	A	18: 42,701,030 (GRCm39)	R828Q	probably damaging	Het
Tgm2	T	G	2: 157,971,321 (GRCm39)	D306A	probably damaging	Het
Tmem79	A	G	3: 88,239,931 (GRCm39)	C260R	possibly damaging	Het
Ubn2	C	A	6: 38,466,190 (GRCm39)	A508E	probably benign	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Wnt16	T	C	6: 22,291,114 (GRCm39)	F181L	probably damaging	Het
Zfp326	T	C	5: 106,062,825 (GRCm39)	F565L	unknown	Het
Zfp62	T	A	11: 49,106,297 (GRCm39)	C129*	probably null	Het

Other mutations in Phkg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Phkg1	APN	5	129,893,914 (GRCm39)	nonsense	probably null
IGL01116:Phkg1	APN	5	129,893,813 (GRCm39)	splice site	probably null
IGL01713:Phkg1	APN	5	129,895,714 (GRCm39)	missense	probably benign	0.01
IGL02246:Phkg1	APN	5	129,893,479 (GRCm39)	missense	probably damaging	0.97
IGL02803:Phkg1	APN	5	129,894,895 (GRCm39)	missense	possibly damaging	0.95
IGL02954:Phkg1	APN	5	129,894,910 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Phkg1	UTSW	5	129,894,772 (GRCm39)	missense	probably benign	0.02
R0041:Phkg1	UTSW	5	129,903,103 (GRCm39)	missense	probably benign
R0140:Phkg1	UTSW	5	129,893,449 (GRCm39)	missense	probably benign	0.01
R0321:Phkg1	UTSW	5	129,898,365 (GRCm39)	start codon destroyed	probably null	1.00
R0646:Phkg1	UTSW	5	129,893,394 (GRCm39)	splice site	probably null
R1142:Phkg1	UTSW	5	129,902,073 (GRCm39)	missense	possibly damaging	0.92
R1446:Phkg1	UTSW	5	129,902,055 (GRCm39)	critical splice donor site	probably null
R2350:Phkg1	UTSW	5	129,893,373 (GRCm39)	missense	probably damaging	1.00
R2896:Phkg1	UTSW	5	129,893,471 (GRCm39)	missense	possibly damaging	0.46
R4773:Phkg1	UTSW	5	129,902,114 (GRCm39)	splice site	probably null
R7236:Phkg1	UTSW	5	129,895,802 (GRCm39)	missense	probably damaging	1.00
R7499:Phkg1	UTSW	5	129,902,109 (GRCm39)	nonsense	probably null
R7658:Phkg1	UTSW	5	129,894,764 (GRCm39)	missense	probably damaging	1.00
R7719:Phkg1	UTSW	5	129,902,699 (GRCm39)	start gained	probably benign
R8686:Phkg1	UTSW	5	129,895,056 (GRCm39)	missense	probably damaging	1.00
R8827:Phkg1	UTSW	5	129,893,894 (GRCm39)	missense	probably benign
R9090:Phkg1	UTSW	5	129,893,863 (GRCm39)	missense	probably benign	0.04
R9271:Phkg1	UTSW	5	129,893,863 (GRCm39)	missense	probably benign	0.04
R9627:Phkg1	UTSW	5	129,893,376 (GRCm39)	nonsense	probably null
Z1177:Phkg1	UTSW	5	129,895,096 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGGGAGAAAATCATGCAATC -3'
(R):5'- TAATGCCCGCTTCTGGTGTG -3'

Sequencing Primer
(F):5'- AATCATGCAATCTCTACCCTTGAGG -3'
(R):5'- TCCAGAAAGATCATGCGG -3'

Posted On

2022-11-14