Mutagenetix > Incidental Mutation

Incidental Mutation 'R8143:Pgm2'

647917

Institutional Source

Beutler Lab

Gene Symbol

Pgm2

Ensembl Gene

ENSMUSG00000025791

Gene Name

phosphoglucomutase 2

Synonyms

2610020G18Rik, Pgm-2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

R8143 (G1)

Quality Score

167.009

Status

Validated

Chromosome

Chromosomal Location

99929414-99987294 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 99967218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058351] [ENSMUST00000102783]

AlphaFold

Q9D0F9

Predicted Effect

probably null
Transcript: ENSMUST00000058351

SMART Domains

Protein: ENSMUSP00000061227
Gene: ENSMUSG00000025791

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	14	158	1.7e-42	PFAM
Pfam:PGM_PMM_II	193	301	3.3e-20	PFAM
Pfam:PGM_PMM_III	306	420	1.1e-33	PFAM
Pfam:PGM_PMM_IV	436	543	1.1e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102783

SMART Domains

Protein: ENSMUSP00000099844
Gene: ENSMUSG00000025791

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	32	176	2.3e-37	PFAM
Pfam:PGM_PMM_II	211	319	1.2e-19	PFAM
Pfam:PGM_PMM_III	324	438	3.7e-33	PFAM
Pfam:PGM_PMM_IV	455	561	3.6e-8	PFAM

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.3%
20x: 85.9%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,375,872	C262F	probably damaging	Het
4932438A13Rik	T	G	3: 36,946,508		probably null	Het
Acss1	T	C	2: 150,667,881		probably null	Het
Adamtsl1	T	C	4: 86,342,255	V909A	possibly damaging	Het
Adprh	G	A	16: 38,450,332	T37M	probably benign	Het
Ak9	T	A	10: 41,337,592	Y264*	probably null	Het
Aox3	G	T	1: 58,158,915	A629S	probably benign	Het
Apcs	G	A	1: 172,894,333	P149S	probably damaging	Het
Arnt	T	A	3: 95,469,983		probably null	Het
Asb13	G	A	13: 3,642,065	G15D	probably damaging	Het
Cacnb1	T	G	11: 98,003,320	T459P	probably benign	Het
Chrnb2	T	C	3: 89,747,323	T718A	unknown	Het
Cttn	T	A	7: 144,461,262	K70*	probably null	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Cyp39a1	T	C	17: 43,725,626	V349A	probably benign	Het
Ebf2	C	A	14: 67,411,937	Y430*	probably null	Het
Eef2	T	C	10: 81,181,348	Y730H	probably damaging	Het
Eif2ak2	G	A	17: 78,858,532	T412I	probably benign	Het
Flnc	G	C	6: 29,441,485	R422P	probably benign	Het
Fryl	G	A	5: 73,050,339	A2496V	probably benign	Het
Galnt6	A	G	15: 100,716,207	L71P	probably damaging	Het
Gm7579	C	T	7: 142,212,426	Q190*	probably null	Het
H2-T3	T	A	17: 36,187,492	R220S	probably benign	Het
Hmcn1	A	G	1: 150,859,206	V185A	probably benign	Het
Ifi208	T	A	1: 173,682,676	D132E	possibly damaging	Het
Itgb4	G	A	11: 115,993,429	V981I	probably damaging	Het
Itsn2	A	G	12: 4,633,003	T310A	unknown	Het
Kat5	A	G	19: 5,607,549		probably null	Het
Kif22	A	T	7: 127,033,225	D304E	probably damaging	Het
Mapre3	A	T	5: 30,863,375	N147Y	possibly damaging	Het
Morc2a	T	C	11: 3,678,537	V330A	probably benign	Het
Mylk	G	A	16: 34,914,155	V709M	possibly damaging	Het
Myo3a	T	G	2: 22,282,665		probably null	Het
N4bp2l2	A	T	5: 150,662,205	D103E	probably benign	Het
Nckap1	T	C	2: 80,506,186	K1062R	possibly damaging	Het
Nol9	T	C	4: 152,041,102	V170A	possibly damaging	Het
Numa1	A	G	7: 101,999,684	Q874R	possibly damaging	Het
Olfr854	A	G	9: 19,567,291	V31A	probably benign	Het
Olig3	T	G	10: 19,356,984	V119G	probably damaging	Het
Osbpl9	A	G	4: 109,065,709	S485P	probably benign	Het
Otogl	A	G	10: 107,806,666	F1301S	probably damaging	Het
Pank3	A	G	11: 35,776,209	Y51C	probably damaging	Het
Pex5l	T	C	3: 33,082,509		probably benign	Het
Psmd9	T	G	5: 123,228,416	I37S	probably damaging	Het
Qtrt2	A	G	16: 43,871,754	S135P	probably damaging	Het
Rexo5	T	A	7: 119,834,261		probably null	Het
Rsrp1	T	A	4: 134,927,008	D286E	probably benign	Het
Scara3	C	T	14: 65,931,820	C116Y	probably damaging	Het
Serpina3b	A	T	12: 104,130,534	T25S	probably benign	Het
Sh3pxd2a	G	A	19: 47,268,699	P555S	probably damaging	Het
Slc1a2	T	A	2: 102,737,885	L89Q	probably damaging	Het
Tgm6	T	A	2: 130,141,843	N307K	probably damaging	Het
Tmem86b	G	T	7: 4,628,485	D189E	probably damaging	Het
Trim65	G	A	11: 116,126,461	R392C	probably benign	Het
Trpc7	T	C	13: 56,782,549	T769A	probably benign	Het
Trrap	T	A	5: 144,835,897		probably null	Het
Ttn	T	C	2: 76,863,333	E397G	possibly damaging	Het
Vcl	A	T	14: 20,987,044	M237L	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Vmn2r23	A	T	6: 123,741,353	D555V	probably damaging	Het
Wnk4	A	G	11: 101,262,799	N229S	probably damaging	Het
Zfp784	A	C	7: 5,035,911	V216G	possibly damaging	Het

Other mutations in Pgm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Pgm2	APN	4	99929606	missense	probably damaging	1.00
IGL01468:Pgm2	APN	4	99962170	missense	possibly damaging	0.82
IGL02013:Pgm2	APN	4	99983961	splice site	probably benign
IGL02237:Pgm2	APN	4	99963510	splice site	probably benign
IGL02945:Pgm2	APN	4	99961534	missense	probably benign
IGL03201:Pgm2	APN	4	99970039	missense	probably damaging	0.99
IGL03373:Pgm2	APN	4	99961544	missense	probably damaging	1.00
R0349:Pgm2	UTSW	4	99963617	missense	probably damaging	1.00
R0683:Pgm2	UTSW	4	99961543	missense	probably damaging	0.99
R1650:Pgm2	UTSW	4	99962070	missense	possibly damaging	0.70
R1650:Pgm2	UTSW	4	99962079	missense	probably benign	0.28
R1741:Pgm2	UTSW	4	99964865	splice site	probably null
R1759:Pgm2	UTSW	4	99967108	missense	probably damaging	1.00
R1843:Pgm2	UTSW	4	99961478	missense	probably damaging	1.00
R3111:Pgm2	UTSW	4	99956025	missense	probably benign
R4115:Pgm2	UTSW	4	99962151	nonsense	probably null
R4426:Pgm2	UTSW	4	99962140	missense	probably benign	0.04
R4748:Pgm2	UTSW	4	99981979	missense	probably benign	0.24
R4910:Pgm2	UTSW	4	99963527	missense	probably damaging	1.00
R4920:Pgm2	UTSW	4	99986733	missense	probably damaging	1.00
R5289:Pgm2	UTSW	4	99967069	missense	probably damaging	1.00
R5764:Pgm2	UTSW	4	99964846	missense	probably damaging	1.00
R6199:Pgm2	UTSW	4	99978954	missense	probably damaging	1.00
R6311:Pgm2	UTSW	4	99970040	missense	possibly damaging	0.93
R6600:Pgm2	UTSW	4	99967062	nonsense	probably null
R6818:Pgm2	UTSW	4	99963566	missense	probably damaging	1.00
R6892:Pgm2	UTSW	4	99929708	missense	probably benign
R6984:Pgm2	UTSW	4	99929654	missense	probably benign	0.04
R7429:Pgm2	UTSW	4	99955995	start codon destroyed	probably null
R7430:Pgm2	UTSW	4	99955995	start codon destroyed	probably null
R8017:Pgm2	UTSW	4	99986678	missense	probably benign	0.00
R8019:Pgm2	UTSW	4	99986678	missense	probably benign	0.00
R8724:Pgm2	UTSW	4	99929767	missense	probably benign	0.00
R8893:Pgm2	UTSW	4	99967100	missense	probably damaging	0.99
R9062:Pgm2	UTSW	4	99986757	missense	probably damaging	1.00
R9260:Pgm2	UTSW	4	99969989	missense	probably damaging	1.00
R9513:Pgm2	UTSW	4	99984045	missense	probably damaging	1.00
R9632:Pgm2	UTSW	4	99986721	missense	probably damaging	1.00
R9710:Pgm2	UTSW	4	99986721	missense	probably damaging	1.00
RF018:Pgm2	UTSW	4	99962303	splice site	probably null
Z1176:Pgm2	UTSW	4	99978997	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGAAATTTGGAAAACTCCACAG -3'
(R):5'- TGATCAGATAGGCTGGCAGAC -3'

Sequencing Primer
(F):5'- AAGTTCTTACATTGAATCTGCTTCC -3'
(R):5'- CACAGTGTGGCGAGTACCAG -3'

Posted On

2020-09-10