Mutagenetix > Incidental Mutation

Incidental Mutation 'R9236:Pgm5'

700517

Institutional Source

Beutler Lab

Gene Symbol

Pgm5

Ensembl Gene

ENSMUSG00000041731

Gene Name

phosphoglucomutase 5

Synonyms

9530034F03Rik, aciculin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R9236 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24660380-24839219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24839003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 51 (S51T)

Ref Sequence

ENSEMBL: ENSMUSP00000036025 (fasta)

Gene Model

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

AlphaFold

Q8BZF8

Predicted Effect

probably benign
Transcript: ENSMUST00000047666
AA Change: S51T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: S51T

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: 99.7%
20x: 99.2%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,626,712 (GRCm39)	T1514A	probably benign	Het
Abcb1b	G	A	5: 8,874,893 (GRCm39)		probably null	Het
Adam12	A	C	7: 133,614,022 (GRCm39)	L109R	probably benign	Het
Adgre1	T	A	17: 57,709,782 (GRCm39)	Y146*	probably null	Het
Ap5m1	G	T	14: 49,311,064 (GRCm39)	V45L	probably benign	Het
Bpifa5	A	T	2: 154,006,150 (GRCm39)	I113F	probably damaging	Het
Cacna1h	A	T	17: 25,600,424 (GRCm39)	M1639K	probably damaging	Het
Celsr1	T	C	15: 85,915,051 (GRCm39)	E974G	probably damaging	Het
Cfap251	T	C	5: 123,428,125 (GRCm39)	C980R	probably damaging	Het
Cggbp1	C	T	16: 64,676,318 (GRCm39)	A128V	probably benign	Het
Col7a1	G	T	9: 108,789,684 (GRCm39)	R898L	unknown	Het
Cycs	C	T	6: 50,543,507 (GRCm39)		probably benign	Het
Cyp2c54	A	T	19: 40,060,938 (GRCm39)	Y68*	probably null	Het
Dock9	T	C	14: 121,876,970 (GRCm39)	D467G	probably damaging	Het
Eif2s1	A	T	12: 78,921,343 (GRCm39)	I83L	probably benign	Het
Eppk1	T	A	15: 75,990,510 (GRCm39)	R2124*	probably null	Het
Fkbp15	G	C	4: 62,254,664 (GRCm39)	L279V	probably damaging	Het
Fndc1	A	G	17: 7,992,460 (GRCm39)	V412A	unknown	Het
Gfap	A	G	11: 102,786,327 (GRCm39)	I194T	probably damaging	Het
Gpatch2	C	A	1: 186,965,977 (GRCm39)	T350K	probably benign	Het
Hecw1	C	T	13: 14,490,643 (GRCm39)	G783D	possibly damaging	Het
Hipk1	A	T	3: 103,671,789 (GRCm39)	W437R	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hr	C	T	14: 70,809,396 (GRCm39)	P1136S	probably damaging	Het
Il1rl2	T	A	1: 40,368,221 (GRCm39)	N130K	probably damaging	Het
Kif13b	A	G	14: 64,982,383 (GRCm39)	I532V	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lrba	T	A	3: 86,261,066 (GRCm39)	I1474K	probably benign	Het
Luc7l3	T	C	11: 94,186,772 (GRCm39)	E371G	unknown	Het
Myo5b	T	A	18: 74,853,934 (GRCm39)	D1184E	probably benign	Het
N4bp2l2	T	C	5: 150,585,734 (GRCm39)	H82R	probably benign	Het
N4bp2l2	A	G	5: 150,585,479 (GRCm39)	M167T	probably benign	Het
Ndufaf1	T	C	2: 119,490,712 (GRCm39)	E118G	possibly damaging	Het
Nedd9	A	T	13: 41,492,153 (GRCm39)	V119E	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Ntmt1	T	A	2: 30,712,407 (GRCm39)	L150Q	probably damaging	Het
Or5b99	G	T	19: 12,976,763 (GRCm39)	V138F	probably damaging	Het
Or7g21	A	G	9: 19,033,206 (GRCm39)	*315W	probably null	Het
Or8b40	A	T	9: 38,027,496 (GRCm39)	M140L	possibly damaging	Het
Or8h7	C	T	2: 86,720,622 (GRCm39)	S299N	probably benign	Het
Osbpl8	A	G	10: 111,106,496 (GRCm39)	N301S	probably benign	Het
Pitx2	A	G	3: 129,009,345 (GRCm39)	K88R	probably damaging	Het
Pnma8b	A	T	7: 16,679,964 (GRCm39)	D316V	unknown	Het
Pop1	C	A	15: 34,499,558 (GRCm39)	P41Q	probably damaging	Het
Rcor1	A	C	12: 111,070,080 (GRCm39)	K292N		Het
Rps6kc1	C	T	1: 190,532,200 (GRCm39)	D601N	probably damaging	Het
Sema7a	A	T	9: 57,862,408 (GRCm39)	I204F	probably damaging	Het
Slc29a4	T	C	5: 142,698,702 (GRCm39)	L121P	probably damaging	Het
Slc4a2	A	G	5: 24,644,308 (GRCm39)	T983A	probably benign	Het
Slc4a4	C	T	5: 89,194,158 (GRCm39)	R213*	probably null	Het
Tbc1d2	G	A	4: 46,609,029 (GRCm39)	T736I	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Trip12	A	C	1: 84,703,550 (GRCm39)	L1895R	probably damaging	Het
Ttc41	A	T	10: 86,612,594 (GRCm39)	Y1289F	probably damaging	Het
Vmn1r70	G	A	7: 10,368,016 (GRCm39)	C168Y	probably damaging	Het
Vtcn1	C	A	3: 100,795,533 (GRCm39)	R167S	probably benign	Het
Zfp369	G	A	13: 65,445,010 (GRCm39)	V718I	probably benign	Het
Zfp608	T	C	18: 55,032,354 (GRCm39)	T529A	probably benign	Het
Zfp936	A	G	7: 42,836,922 (GRCm39)	N46D	probably benign	Het
Zfp974	A	G	7: 27,610,342 (GRCm39)	V461A	possibly damaging	Het
Zgrf1	A	G	3: 127,378,312 (GRCm39)	N1024S	probably benign	Het

Other mutations in Pgm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Pgm5	APN	19	24,812,130 (GRCm39)	missense	possibly damaging	0.65
IGL01318:Pgm5	APN	19	24,793,842 (GRCm39)	missense	probably damaging	1.00
IGL01372:Pgm5	APN	19	24,710,985 (GRCm39)	missense	probably damaging	1.00
IGL01541:Pgm5	APN	19	24,793,777 (GRCm39)	missense	probably damaging	1.00
IGL01648:Pgm5	APN	19	24,801,715 (GRCm39)	missense	probably damaging	0.99
IGL02049:Pgm5	APN	19	24,801,782 (GRCm39)	missense	probably benign	0.00
IGL02827:Pgm5	APN	19	24,686,659 (GRCm39)	missense	probably benign	0.16
IGL02975:Pgm5	APN	19	24,812,212 (GRCm39)	missense	probably benign	0.00
3-1:Pgm5	UTSW	19	24,705,152 (GRCm39)	missense	probably benign	0.02
P0047:Pgm5	UTSW	19	24,793,785 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Pgm5	UTSW	19	24,801,693 (GRCm39)	missense	probably damaging	1.00
R0013:Pgm5	UTSW	19	24,710,904 (GRCm39)	critical splice donor site	probably null
R0047:Pgm5	UTSW	19	24,661,920 (GRCm39)	missense	probably damaging	0.98
R0180:Pgm5	UTSW	19	24,793,127 (GRCm39)	missense	probably damaging	1.00
R0317:Pgm5	UTSW	19	24,801,763 (GRCm39)	missense	possibly damaging	0.55
R0478:Pgm5	UTSW	19	24,812,233 (GRCm39)	missense	possibly damaging	0.45
R1587:Pgm5	UTSW	19	24,793,113 (GRCm39)	missense	probably damaging	1.00
R2017:Pgm5	UTSW	19	24,801,676 (GRCm39)	missense	probably benign	0.06
R2087:Pgm5	UTSW	19	24,710,927 (GRCm39)	missense	probably damaging	0.99
R2152:Pgm5	UTSW	19	24,812,179 (GRCm39)	missense	probably damaging	1.00
R2169:Pgm5	UTSW	19	24,812,179 (GRCm39)	missense	probably damaging	1.00
R3851:Pgm5	UTSW	19	24,797,567 (GRCm39)	missense	probably damaging	1.00
R4034:Pgm5	UTSW	19	24,839,021 (GRCm39)	missense	probably damaging	0.96
R4489:Pgm5	UTSW	19	24,793,809 (GRCm39)	missense	probably benign	0.12
R4630:Pgm5	UTSW	19	24,812,110 (GRCm39)	nonsense	probably null
R4736:Pgm5	UTSW	19	24,812,169 (GRCm39)	missense	probably damaging	1.00
R5186:Pgm5	UTSW	19	24,797,492 (GRCm39)	missense	probably damaging	1.00
R5414:Pgm5	UTSW	19	24,686,689 (GRCm39)	missense	probably damaging	0.99
R5558:Pgm5	UTSW	19	24,801,815 (GRCm39)	splice site	probably null
R5617:Pgm5	UTSW	19	24,727,765 (GRCm39)	nonsense	probably null
R6142:Pgm5	UTSW	19	24,801,772 (GRCm39)	missense	probably damaging	1.00
R6648:Pgm5	UTSW	19	24,838,996 (GRCm39)	missense	probably benign	0.02
R6821:Pgm5	UTSW	19	24,839,011 (GRCm39)	missense	possibly damaging	0.88
R7360:Pgm5	UTSW	19	24,812,181 (GRCm39)	missense	probably damaging	1.00
R7421:Pgm5	UTSW	19	24,686,663 (GRCm39)	missense	probably benign	0.03
R7590:Pgm5	UTSW	19	24,686,629 (GRCm39)	missense	probably damaging	1.00
R7610:Pgm5	UTSW	19	24,812,120 (GRCm39)	missense	probably damaging	1.00
R7685:Pgm5	UTSW	19	24,705,215 (GRCm39)	missense	probably benign	0.45
R8254:Pgm5	UTSW	19	24,705,089 (GRCm39)	missense	probably benign	0.18
R8405:Pgm5	UTSW	19	24,705,106 (GRCm39)	missense	probably benign	0.01
R8516:Pgm5	UTSW	19	24,793,074 (GRCm39)	missense	probably benign
R8755:Pgm5	UTSW	19	24,812,212 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGAAGAGCAGCTCCTCTAAGGC -3'
(R):5'- ACAATCCGAGAGTAGCGACG -3'

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

Posted On

2022-02-07