Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Pgm5'

656179

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: 0.208) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24683016-24861855 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24815710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 331 (M331L)

Ref Sequence

ENSEMBL: ENSMUSP00000036025 (fasta)

Gene Model

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

AlphaFold

Q8BZF8

Predicted Effect

probably benign
Transcript: ENSMUST00000047666
AA Change: M331L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: M331L

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: 99.5%
20x: 98.6%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768	I212N	probably damaging	Het
Prom1	T	C	5: 44,007,099	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355	Y75F	possibly 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
R6821:Pgm5	UTSW	19	24861647	missense	possibly damaging	0.88
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
R8254:Pgm5	UTSW	19	24727725	missense	probably benign	0.18
R8405:Pgm5	UTSW	19	24727742	missense	probably benign	0.01
R8755:Pgm5	UTSW	19	24834848	missense	probably damaging	0.98
R9236:Pgm5	UTSW	19	24861639	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGACCACTTGAATTTCATGCTG -3'
(R):5'- GCTGTTTCAGTGGCAGGAAAG -3'

Sequencing Primer
(F):5'- GAATTTCATGCTGCTATATCACACC -3'
(R):5'- AGGCTTGTGTTAATGATGGAAAC -3'

Posted On

2020-10-20