Mutagenetix > Incidental Mutation

Incidental Mutation 'R1499:Pgm3'

168701

Institutional Source

Beutler Lab

Gene Symbol

Pgm3

Ensembl Gene

ENSMUSG00000056131

Gene Name

phosphoglucomutase 3

Synonyms

Pgm-3, 2810473H05Rik, GlcNAc-P mutase

MMRRC Submission

039550-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86436430-86453895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86452340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 40 (F40Y)

Ref Sequence

ENSEMBL: ENSMUSP00000070871 (fasta)

Gene Model

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

AlphaFold

Q9CYR6

PDB Structure

Solution structure of the C-terminal domain of mouse phosphoacetylglucosamine mutase (PAGM) [SOLUTION NMR]

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: F40Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: F40Y

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: F40Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: F40Y

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

0.0646

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,458 (GRCm39)	Y763F	probably benign	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Actl11	A	G	9: 107,808,682 (GRCm39)	T1002A	probably damaging	Het
Ampd1	T	A	3: 102,998,980 (GRCm39)	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,587 (GRCm39)		probably benign	Het
Arhgap6	C	A	X: 167,579,499 (GRCm39)	P95T	possibly damaging	Het
Atg14	T	C	14: 47,798,102 (GRCm39)	N87S	probably benign	Het
Atp9b	C	T	18: 80,805,353 (GRCm39)	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,822,122 (GRCm39)	T110S	probably benign	Het
Birc6	T	G	17: 74,919,314 (GRCm39)	L221R	probably damaging	Het
Ces1c	A	G	8: 93,854,233 (GRCm39)	F101L	probably benign	Het
Cfap91	A	G	16: 38,141,762 (GRCm39)	V390A	probably damaging	Het
Chsy1	T	C	7: 65,821,750 (GRCm39)	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,557,900 (GRCm39)	F176I	probably benign	Het
Col5a2	A	G	1: 45,450,626 (GRCm39)	S374P	probably benign	Het
Col6a2	A	T	10: 76,439,544 (GRCm39)	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336 (GRCm39)	I401K	probably damaging	Het
Cspp1	T	A	1: 10,159,191 (GRCm39)		probably null	Het
Ddn	G	A	15: 98,704,647 (GRCm39)	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799 (GRCm39)		probably benign	Het
Dync2li1	T	C	17: 84,954,667 (GRCm39)		probably benign	Het
Eif2a	T	A	3: 58,445,005 (GRCm39)	L50*	probably null	Het
Elavl3	G	A	9: 21,929,875 (GRCm39)	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,538,982 (GRCm39)		probably null	Het
Fgf8	C	A	19: 45,730,786 (GRCm39)	V80F	possibly damaging	Het
Fras1	A	T	5: 96,891,046 (GRCm39)	E2858D	probably benign	Het
Fshr	A	T	17: 89,293,529 (GRCm39)	L383Q	probably damaging	Het
Glb1	A	G	9: 114,246,171 (GRCm39)	K74R	probably benign	Het
Gmeb2	T	G	2: 180,897,019 (GRCm39)	M290L	probably benign	Het
Gnptg	A	G	17: 25,454,828 (GRCm39)		probably null	Het
Grik2	A	C	10: 49,008,871 (GRCm39)	S739A	probably damaging	Het
Grk2	T	A	19: 4,337,222 (GRCm39)	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,491,473 (GRCm39)	V210A	probably damaging	Het
Hyal1	C	T	9: 107,455,091 (GRCm39)	L134F	probably damaging	Het
Itgb2	A	T	10: 77,381,987 (GRCm39)	K18N	possibly damaging	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,137,796 (GRCm39)	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,309,203 (GRCm39)	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,707,025 (GRCm39)	Y981C	probably damaging	Het
Klk1b26	C	A	7: 43,665,810 (GRCm39)	D207E	probably benign	Het
Kmt2a	G	T	9: 44,759,563 (GRCm39)	T762N	probably benign	Het
Kmt2d	A	G	15: 98,742,819 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,964,876 (GRCm39)	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,626,276 (GRCm39)	C127S	unknown	Het
Map7d1	A	G	4: 126,128,558 (GRCm39)		probably null	Het
Ninl	T	C	2: 150,822,096 (GRCm39)	D2G	possibly damaging	Het
Or2w1b	T	A	13: 21,300,303 (GRCm39)	M147K	probably benign	Het
Or5k3	A	G	16: 58,969,287 (GRCm39)	T25A	probably benign	Het
Or5m11b	C	T	2: 85,806,372 (GRCm39)	P262S	possibly damaging	Het
Or6n1	T	A	1: 173,916,813 (GRCm39)	L69*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pax8	A	G	2: 24,319,608 (GRCm39)	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,314,408 (GRCm39)	I63V	possibly damaging	Het
Phrf1	G	T	7: 140,836,564 (GRCm39)	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,890,538 (GRCm39)		probably benign	Het
Prss59	A	T	6: 40,898,652 (GRCm39)	S199T	probably benign	Het
Pum1	T	C	4: 130,446,567 (GRCm39)	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,689,337 (GRCm39)	F220L	probably benign	Het
Rgs9	A	G	11: 109,159,747 (GRCm39)		probably null	Het
Rin3	A	G	12: 102,335,018 (GRCm39)	T230A	unknown	Het
Ros1	A	T	10: 51,974,773 (GRCm39)	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528 (GRCm38)	M151V	probably benign	Het
Sacs	T	A	14: 61,451,153 (GRCm39)	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,361,437 (GRCm39)	V148I	probably benign	Het
Slc13a5	A	G	11: 72,141,557 (GRCm39)	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,453,733 (GRCm39)		probably null	Het
Smarcc2	T	A	10: 128,299,741 (GRCm39)	N135K	probably damaging	Het
Snx15	G	C	19: 6,172,094 (GRCm39)	S116R	probably damaging	Het
Stag1	A	G	9: 100,737,885 (GRCm39)	E414G	possibly damaging	Het
Stag1	A	T	9: 100,769,426 (GRCm39)		probably benign	Het
Tmem106a	T	A	11: 101,481,263 (GRCm39)	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,882,991 (GRCm39)	D1968N	probably benign	Het
Trim42	A	G	9: 97,248,138 (GRCm39)	L186P	possibly damaging	Het
Tshb	T	A	3: 102,685,624 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,584,484 (GRCm39)	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,239,506 (GRCm39)	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228 (GRCm39)	T113I	probably damaging	Het
Vps13c	A	G	9: 67,864,787 (GRCm39)	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,493,729 (GRCm39)		probably benign	Het
Zc3h7a	G	A	16: 10,980,520 (GRCm39)	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046 (GRCm39)	S1191P	probably damaging	Het

Other mutations in Pgm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Pgm3	APN	9	86,443,932 (GRCm39)	missense	probably damaging	0.96
IGL01865:Pgm3	APN	9	86,437,371 (GRCm39)	missense	possibly damaging	0.85
IGL02800:Pgm3	APN	9	86,437,431 (GRCm39)	missense	possibly damaging	0.94
R6592_Pgm3_648	UTSW	9	86,441,496 (GRCm39)	missense	possibly damaging	0.87
R7274_Pgm3_459	UTSW	9	86,444,650 (GRCm39)	missense	probably damaging	1.00
R0038:Pgm3	UTSW	9	86,446,726 (GRCm39)	splice site	probably benign
R0038:Pgm3	UTSW	9	86,446,726 (GRCm39)	splice site	probably benign
R0266:Pgm3	UTSW	9	86,449,586 (GRCm39)	missense	probably benign	0.00
R0536:Pgm3	UTSW	9	86,449,589 (GRCm39)	missense	possibly damaging	0.83
R0617:Pgm3	UTSW	9	86,438,243 (GRCm39)	critical splice donor site	probably null
R1780:Pgm3	UTSW	9	86,438,257 (GRCm39)	missense	probably damaging	1.00
R1838:Pgm3	UTSW	9	86,451,286 (GRCm39)	missense	probably benign	0.03
R1882:Pgm3	UTSW	9	86,447,743 (GRCm39)	missense	possibly damaging	0.72
R1920:Pgm3	UTSW	9	86,440,531 (GRCm39)	missense	possibly damaging	0.47
R2095:Pgm3	UTSW	9	86,438,394 (GRCm39)	missense	probably damaging	0.99
R2378:Pgm3	UTSW	9	86,444,720 (GRCm39)	missense	probably damaging	0.97
R2679:Pgm3	UTSW	9	86,451,374 (GRCm39)	missense	probably benign	0.32
R3021:Pgm3	UTSW	9	86,449,588 (GRCm39)	missense	possibly damaging	0.95
R3686:Pgm3	UTSW	9	86,441,563 (GRCm39)	missense	probably benign	0.37
R4490:Pgm3	UTSW	9	86,443,893 (GRCm39)	missense	probably damaging	1.00
R4651:Pgm3	UTSW	9	86,440,523 (GRCm39)	missense	probably benign	0.01
R4652:Pgm3	UTSW	9	86,440,523 (GRCm39)	missense	probably benign	0.01
R4718:Pgm3	UTSW	9	86,452,448 (GRCm39)	missense	probably benign	0.00
R4883:Pgm3	UTSW	9	86,451,378 (GRCm39)	missense	probably damaging	1.00
R4940:Pgm3	UTSW	9	86,441,529 (GRCm39)	missense	probably damaging	1.00
R4973:Pgm3	UTSW	9	86,444,732 (GRCm39)	missense	probably benign
R4990:Pgm3	UTSW	9	86,440,465 (GRCm39)	missense	probably damaging	0.97
R5357:Pgm3	UTSW	9	86,438,310 (GRCm39)	nonsense	probably null
R5870:Pgm3	UTSW	9	86,452,414 (GRCm39)	missense	probably damaging	0.99
R6592:Pgm3	UTSW	9	86,441,496 (GRCm39)	missense	possibly damaging	0.87
R6807:Pgm3	UTSW	9	86,438,555 (GRCm39)	splice site	probably null
R7152:Pgm3	UTSW	9	86,449,593 (GRCm39)	missense	probably benign	0.13
R7274:Pgm3	UTSW	9	86,444,650 (GRCm39)	missense	probably damaging	1.00
R8112:Pgm3	UTSW	9	86,446,828 (GRCm39)	missense	probably benign
R8195:Pgm3	UTSW	9	86,452,374 (GRCm39)	missense	probably damaging	1.00
R9115:Pgm3	UTSW	9	86,447,662 (GRCm39)	missense	probably damaging	0.98
R9224:Pgm3	UTSW	9	86,438,415 (GRCm39)	missense	probably benign	0.15
R9336:Pgm3	UTSW	9	86,437,413 (GRCm39)	missense	probably benign
R9422:Pgm3	UTSW	9	86,443,938 (GRCm39)	missense	probably damaging	0.97
R9705:Pgm3	UTSW	9	86,437,414 (GRCm39)	missense	probably benign
X0028:Pgm3	UTSW	9	86,451,408 (GRCm39)	missense	probably damaging	1.00
Z1088:Pgm3	UTSW	9	86,446,760 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGCAGACTCCCAGCATTGAAATGTG -3'
(R):5'- GCAGTTTACCAAGCAGTACTTGAAAGC -3'

Sequencing Primer
(F):5'- ggaagggaggggaggag -3'
(R):5'- TCTTGTAGGCATGGATCTGGAG -3'

Posted On

2014-04-13