Mutagenetix > Incidental Mutations

Incidental Mutation 'R6821:Pgm5'

537654

Institutional Source

Beutler Lab

Gene Symbol

Pgm5

Ensembl Gene

ENSMUSG00000041731

Gene Name

phosphoglucomutase 5

Synonyms

9530034F03Rik, aciculin

MMRRC Submission

Accession Numbers

Genbank: NM_175013

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R6821 (G1)

Quality Score

210.009

Status

Validated

Chromosome

Chromosomal Location

24683016-24861855 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24861647 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 48 (V48E)

Ref Sequence

ENSEMBL: ENSMUSP00000036025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047666]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047666
AA Change: V48E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: V48E

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	19	163	3.9e-31	PFAM
Pfam:PGM_PMM_II	198	306	1.8e-15	PFAM
Pfam:PGM_PMM_III	311	425	6.9e-31	PFAM
SCOP:d3pmga4	427	567	5e-74	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,288,836	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,048	K208T	probably benign	Het
Adamts8	T	A	9: 30,956,626	L582Q	probably benign	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Ano9	A	T	7: 141,107,256	F357I	possibly damaging	Het
Aox3	T	C	1: 58,150,388	V416A	probably benign	Het
Arhgap21	A	C	2: 20,848,848	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,948,173	F506I	probably damaging	Het
Atp9b	A	T	18: 80,847,248	L292H	probably damaging	Het
C2cd5	A	G	6: 143,017,986	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,803,335	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,035,045	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
D630003M21Rik	A	C	2: 158,204,774	L761R	probably damaging	Het
Draxin	G	T	4: 148,115,691	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,933,060	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,961,655	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epha4	T	C	1: 77,382,945	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,763,083	I96V	probably benign	Het
Gars	A	G	6: 55,079,338	E728G	probably benign	Het
Gldn	T	C	9: 54,338,770	M535T	probably benign	Het
Gm13089	A	T	4: 143,699,304	L23*	probably null	Het
Gm47985	A	G	1: 151,183,036	T143A	possibly damaging	Het
Gpr6	T	C	10: 41,071,008	T193A	probably benign	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,264,134	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,500,522	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,484,493	I2T	probably benign	Het
Ints9	A	G	14: 65,037,458	E621G	probably benign	Het
Itm2b	G	A	14: 73,366,467	P47S	probably benign	Het
Map10	A	G	8: 125,670,399	K177R	probably benign	Het
Mdh2	T	C	5: 135,789,671	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,170,407	T573A	probably benign	Het
Mycbp2	A	T	14: 103,139,409	I3812N	probably damaging	Het
Myo15	A	G	11: 60,524,475	N3403S	probably damaging	Het
Nvl	G	A	1: 181,126,970	Q343*	probably null	Het
Ocstamp	A	T	2: 165,397,922	S115T	probably benign	Het
Olfr632	A	T	7: 103,937,586	I69F	probably benign	Het
Otoa	G	A	7: 121,092,847		probably null	Het
Pcdhb20	A	T	18: 37,506,122	N567I	probably damaging	Het
Phlpp1	T	A	1: 106,386,444	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,650,606	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,639	K287E	possibly damaging	Het
Rad54b	A	G	4: 11,612,777	D803G	probably damaging	Het
Rbm26	G	A	14: 105,116,964		probably benign	Het
Rspry1	C	T	8: 94,635,431	Q113*	probably null	Het
Siah2	T	A	3: 58,691,770	S16C	probably benign	Het
Sirpa	C	A	2: 129,630,097	D481E	probably damaging	Het
Slc38a7	A	C	8: 95,844,920	D227E	probably benign	Het
Smc5	A	G	19: 23,242,787	V438A	probably benign	Het
Spast	A	G	17: 74,351,962	E108G	probably benign	Het
Speg	A	G	1: 75,417,903	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,886,490		probably null	Het
Tgfbi	T	C	13: 56,626,137	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,616,892	S522G	possibly damaging	Het
Trav14-3	A	G	14: 53,763,472	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,762,644	V109A	possibly damaging	Het
Ttl	G	A	2: 129,068,915	R73H	probably damaging	Het
Usp34	C	T	11: 23,367,491	T850I	possibly damaging	Het
Vdac3	T	C	8: 22,580,475	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,536,659	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,429,465	Y461N	probably damaging	Het
Wt1	T	A	2: 105,172,267	F493I	probably damaging	Het

Other mutations in Pgm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Pgm5	APN	19	24834766	missense	possibly damaging	0.65
IGL01318:Pgm5	APN	19	24816478	missense	probably damaging	1.00
IGL01372:Pgm5	APN	19	24733621	missense	probably damaging	1.00
IGL01541:Pgm5	APN	19	24816413	missense	probably damaging	1.00
IGL01648:Pgm5	APN	19	24824351	missense	probably damaging	0.99
IGL02049:Pgm5	APN	19	24824418	missense	probably benign	0.00
IGL02827:Pgm5	APN	19	24709295	missense	probably benign	0.16
IGL02975:Pgm5	APN	19	24834848	missense	probably benign	0.00
3-1:Pgm5	UTSW	19	24727788	missense	probably benign	0.02
P0047:Pgm5	UTSW	19	24816421	missense	probably damaging	1.00
PIT4466001:Pgm5	UTSW	19	24824329	missense	probably damaging	1.00
R0013:Pgm5	UTSW	19	24733540	critical splice donor site	probably null
R0047:Pgm5	UTSW	19	24684556	missense	probably damaging	0.98
R0180:Pgm5	UTSW	19	24815763	missense	probably damaging	1.00
R0317:Pgm5	UTSW	19	24824399	missense	possibly damaging	0.55
R0478:Pgm5	UTSW	19	24834869	missense	possibly damaging	0.45
R1587:Pgm5	UTSW	19	24815749	missense	probably damaging	1.00
R2017:Pgm5	UTSW	19	24824312	missense	probably benign	0.06
R2087:Pgm5	UTSW	19	24733563	missense	probably damaging	0.99
R2152:Pgm5	UTSW	19	24834815	missense	probably damaging	1.00
R2169:Pgm5	UTSW	19	24834815	missense	probably damaging	1.00
R3851:Pgm5	UTSW	19	24820203	missense	probably damaging	1.00
R4034:Pgm5	UTSW	19	24861657	missense	probably damaging	0.96
R4489:Pgm5	UTSW	19	24816445	missense	probably benign	0.12
R4630:Pgm5	UTSW	19	24834746	nonsense	probably null
R4736:Pgm5	UTSW	19	24834805	missense	probably damaging	1.00
R5186:Pgm5	UTSW	19	24820128	missense	probably damaging	1.00
R5414:Pgm5	UTSW	19	24709325	missense	probably damaging	0.99
R5558:Pgm5	UTSW	19	24824451	splice site	probably null
R5617:Pgm5	UTSW	19	24750401	nonsense	probably null
R6142:Pgm5	UTSW	19	24824408	missense	probably damaging	1.00
R6648:Pgm5	UTSW	19	24861632	missense	probably benign	0.02
R7360:Pgm5	UTSW	19	24834817	missense	probably damaging	1.00
R7421:Pgm5	UTSW	19	24709299	missense	probably benign	0.03
R7590:Pgm5	UTSW	19	24709265	missense	probably damaging	1.00
R7610:Pgm5	UTSW	19	24834756	missense	probably damaging	1.00
R7685:Pgm5	UTSW	19	24727851	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- AAGAGCAGCTCCTCTAAGGC -3'
(R):5'- GACAATCCGAGAGTAGCGAC -3'

Sequencing Primer
(F):5'- AGCTCCTCTAAGGCCAGTGTC -3'
(R):5'- TCCGAGAGTAGCGACGGGAG -3'

Posted On

2018-10-18