Mutagenetix > Incidental Mutations

Incidental Mutation 'R0317:Pgm5'

25502

Institutional Source

Beutler Lab

Gene Symbol

Pgm5

Ensembl Gene

ENSMUSG00000041731

Gene Name

phosphoglucomutase 5

Synonyms

9530034F03Rik, aciculin

MMRRC Submission

038527-MU

Accession Numbers

Genbank: NM_175013

Is this an essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24683016-24861855 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24824399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 155 (I155T)

Ref Sequence

ENSEMBL: ENSMUSP00000036025 (fasta)

Gene Model

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

AlphaFold

Q8BZF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047666
AA Change: I155T

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: I155T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150339

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

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
Abca13	T	C	11: 9,293,459	V1774A	probably damaging	Het
Adam34	G	A	8: 43,652,251	P119L	probably benign	Het
Ap3b2	T	C	7: 81,463,681		probably null	Het
Arfip2	G	A	7: 105,637,223	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,423,544	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,172,697		probably null	Het
Cab39	A	G	1: 85,849,160	E322G	probably damaging	Het
Cad	C	A	5: 31,072,321	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,706,901		probably null	Het
Cela2a	A	T	4: 141,821,700		probably null	Het
Ces1e	A	C	8: 93,224,039	I38S	probably benign	Het
Ces1f	A	T	8: 93,263,391	F364I	probably benign	Het
Chgb	A	G	2: 132,793,811	T558A	probably benign	Het
Cnpy4	C	T	5: 138,192,812	Q217*	probably null	Het
Col4a3bp	C	T	13: 96,634,121	R487*	probably null	Het
Crlf1	A	G	8: 70,498,599	T43A	probably benign	Het
Dnah7b	T	A	1: 46,134,656	M707K	probably damaging	Het
Ets2	G	A	16: 95,712,149	S123N	probably damaging	Het
Fam196b	C	A	11: 34,402,826	D289E	possibly damaging	Het
Fry	T	C	5: 150,471,468	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,116	R120H	probably benign	Het
Gbf1	A	G	19: 46,254,020	T96A	probably benign	Het
Ggn	T	A	7: 29,171,090	M1K	probably null	Het
Gm5239	A	G	18: 35,536,916	T112A	probably benign	Het
Kif1bp	A	T	10: 62,578,082		probably null	Het
Lrrc15	A	T	16: 30,273,743	H259Q	probably benign	Het
Lysmd4	A	G	7: 67,226,297	Y236C	probably damaging	Het
Med29	T	C	7: 28,386,859	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,357,799	D68Y	probably damaging	Het
Myh1	T	C	11: 67,217,512	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,551,931		probably null	Het
Olfr948	A	G	9: 39,319,461	I51T	probably benign	Het
Pdhx	A	G	2: 103,028,280	V393A	probably benign	Het
Pgr	A	T	9: 8,965,022	I889F	probably benign	Het
Phactr4	T	A	4: 132,386,930	K51I	probably damaging	Het
Pum2	T	A	12: 8,728,754	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,725,553	S24P	probably damaging	Het
Rasef	T	C	4: 73,748,562	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,087,144	D339G	probably benign	Het
Recql5	A	G	11: 115,894,673	S666P	probably benign	Het
Rfc1	A	T	5: 65,296,052		probably null	Het
Scarb1	A	G	5: 125,289,692	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,946,356	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,358,625	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,504,426	Y104D	probably damaging	Het
Suz12	T	A	11: 79,999,078	D13E	probably damaging	Het
Tlr1	G	T	5: 64,925,967	C422*	probably null	Het
Tmco1	T	C	1: 167,325,893	V114A	probably damaging	Het
Trpa1	T	C	1: 14,881,632	T948A	probably benign	Het
Tub	A	T	7: 109,020,927	N93Y	probably damaging	Het
Ufsp2	G	A	8: 45,992,233		probably null	Het
Veph1	T	C	3: 66,171,975	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,620,960	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 64,081,819	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,851,583	S480G	probably benign	Het
Wnk4	T	C	11: 101,268,804	S612P	probably benign	Het
Zfp503	T	C	14: 21,986,459	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602	C628Y	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
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
R8516:Pgm5	UTSW	19	24815710	missense	probably benign
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'- ACAGCGCCACTCTTCAGATGAC -3'
(R):5'- ACAGGCCGGGCTGATCAAATATCC -3'

Sequencing Primer
(F):5'- GCCACTCTTCAGATGACTAATTCAG -3'
(R):5'- GGGCTGATCAAATATCCTCTCCATAG -3'

Posted On

2013-04-16