Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Pgm3'

250779

Institutional Source

Beutler Lab

Gene Symbol

Pgm3

Ensembl Gene

ENSMUSG00000056131

Gene Name

phosphoglucomutase 3

Synonyms

Pgm-3, GlcNAc-P mutase, 2810473H05Rik

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86554377-86571842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86569321 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 93 (C93W)

Ref Sequence

ENSEMBL: ENSMUSP00000072390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034988] [ENSMUST00000070064] [ENSMUST00000072585] [ENSMUST00000179212] [ENSMUST00000185566]

Predicted Effect

probably benign
Transcript: ENSMUST00000034988

SMART Domains

Protein: ENSMUSP00000034988
Gene: ENSMUSG00000032417

Domain	Start	End	E-Value	Type
RWD	14	134	1.22e-25	SMART
Pfam:DUF1115	160	283	7.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070064
AA Change: C93W

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

SMART Domains

Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: C93W

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	44	102	6.5e-9	PFAM
Pfam:PGM_PMM_I	96	174	4.3e-9	PFAM
Pfam:PGM_PMM_IV	443	528	8.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072585
AA Change: C93W

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: C93W

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	44	102	2.5e-10	PFAM
Pfam:PGM_PMM_I	95	175	3.6e-11	PFAM
Pfam:PGM_PMM_II	181	291	9.4e-14	PFAM
SCOP:d3pmga3	298	374	1e-8	SMART
Pfam:PGM_PMM_IV	383	487	8.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179212

SMART Domains

Protein: ENSMUSP00000137392
Gene: ENSMUSG00000032417

Domain	Start	End	E-Value	Type
RWD	14	134	1.22e-25	SMART
Pfam:DUF1115	158	282	1.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185566

SMART Domains

Protein: ENSMUSP00000139930
Gene: ENSMUSG00000032417

Domain	Start	End	E-Value	Type
RWD	14	134	1.22e-25	SMART
Pfam:DUF1115	160	283	7.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187251

Meta Mutation Damage Score

0.1407

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility, anemia, leukopenia, thrombocytopenia, abnormal pancreatic and salivary gland morphology, and splenomegaly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	Het

Other mutations in Pgm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Pgm3	APN	9	86561879	missense	probably damaging	0.96
IGL01865:Pgm3	APN	9	86555318	missense	possibly damaging	0.85
IGL02800:Pgm3	APN	9	86555378	missense	possibly damaging	0.94
R6592_Pgm3_648	UTSW	9	86559443	missense	possibly damaging	0.87
R0038:Pgm3	UTSW	9	86564673	splice site	probably benign
R0038:Pgm3	UTSW	9	86564673	splice site	probably benign
R0266:Pgm3	UTSW	9	86567533	missense	probably benign	0.00
R0536:Pgm3	UTSW	9	86567536	missense	possibly damaging	0.83
R0617:Pgm3	UTSW	9	86556190	critical splice donor site	probably null
R1499:Pgm3	UTSW	9	86570287	missense	probably benign	0.01
R1780:Pgm3	UTSW	9	86556204	missense	probably damaging	1.00
R1838:Pgm3	UTSW	9	86569233	missense	probably benign	0.03
R1882:Pgm3	UTSW	9	86565690	missense	possibly damaging	0.72
R1920:Pgm3	UTSW	9	86558478	missense	possibly damaging	0.47
R2095:Pgm3	UTSW	9	86556341	missense	probably damaging	0.99
R2378:Pgm3	UTSW	9	86562667	missense	probably damaging	0.97
R3021:Pgm3	UTSW	9	86567535	missense	possibly damaging	0.95
R3686:Pgm3	UTSW	9	86559510	missense	probably benign	0.37
R4490:Pgm3	UTSW	9	86561840	missense	probably damaging	1.00
R4651:Pgm3	UTSW	9	86558470	missense	probably benign	0.01
R4652:Pgm3	UTSW	9	86558470	missense	probably benign	0.01
R4718:Pgm3	UTSW	9	86570395	missense	probably benign	0.00
R4883:Pgm3	UTSW	9	86569325	missense	probably damaging	1.00
R4940:Pgm3	UTSW	9	86559476	missense	probably damaging	1.00
R4973:Pgm3	UTSW	9	86562679	missense	probably benign
R4990:Pgm3	UTSW	9	86558412	missense	probably damaging	0.97
R5357:Pgm3	UTSW	9	86556257	nonsense	probably null
R5870:Pgm3	UTSW	9	86570361	missense	probably damaging	0.99
R6592:Pgm3	UTSW	9	86559443	missense	possibly damaging	0.87
R6807:Pgm3	UTSW	9	86556502	splice site	probably null
R7152:Pgm3	UTSW	9	86567540	missense	probably benign	0.13
R7274:Pgm3	UTSW	9	86562597	missense	probably damaging	1.00
R8112:Pgm3	UTSW	9	86564775	missense	probably benign
R8195:Pgm3	UTSW	9	86570321	missense	probably damaging	1.00
X0028:Pgm3	UTSW	9	86569355	missense	probably damaging	1.00
Z1088:Pgm3	UTSW	9	86564707	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATGGGATGGCTCCTTCAAGG -3'
(R):5'- AACAGAGTGTCCTTCCAAGTTTG -3'

Sequencing Primer
(F):5'- GATGTTTACGCTTGCACAGACAGAC -3'
(R):5'- TGTTATCGTCACAAGGAACTGAAG -3'

Posted On

2014-12-04