Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Pgm3'

197457

Institutional Source

Beutler Lab

Gene Symbol

Pgm3

Ensembl Gene

ENSMUSG00000056131

Gene Name

phosphoglucomutase 3

Synonyms

Pgm-3, 2810473H05Rik, GlcNAc-P mutase

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86436430-86453895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86438257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 509 (E509D)

Ref Sequence

ENSEMBL: ENSMUSP00000070871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034987] [ENSMUST00000070064] [ENSMUST00000072585] [ENSMUST00000185919] [ENSMUST00000189817] [ENSMUST00000190957]

AlphaFold

Q9CYR6

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034987

SMART Domains

Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	11	300	1e-117	PFAM
low complexity region	631	649	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	1073	1084	N/A	INTRINSIC
low complexity region	1105	1118	N/A	INTRINSIC
low complexity region	1268	1281	N/A	INTRINSIC
low complexity region	1296	1318	N/A	INTRINSIC
low complexity region	1335	1344	N/A	INTRINSIC
low complexity region	1362	1373	N/A	INTRINSIC
low complexity region	1575	1589	N/A	INTRINSIC
low complexity region	2217	2227	N/A	INTRINSIC
low complexity region	2351	2362	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070064
AA Change: E509D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: E509D

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 damaging
Transcript: ENSMUST00000072585
AA Change: E468D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: E468D

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: ENSMUST00000185919

SMART Domains

Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	10	306	1.9e-106	PFAM
low complexity region	629	647	N/A	INTRINSIC
low complexity region	959	971	N/A	INTRINSIC
low complexity region	1071	1082	N/A	INTRINSIC
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1266	1279	N/A	INTRINSIC
low complexity region	1294	1316	N/A	INTRINSIC
low complexity region	1333	1342	N/A	INTRINSIC
low complexity region	1360	1371	N/A	INTRINSIC
low complexity region	1573	1587	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189564

Predicted Effect

probably benign
Transcript: ENSMUST00000189817

Predicted Effect

probably benign
Transcript: ENSMUST00000190957

SMART Domains

Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	10	305	1.3e-108	PFAM
low complexity region	631	649	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	1073	1084	N/A	INTRINSIC
low complexity region	1105	1118	N/A	INTRINSIC
low complexity region	1268	1281	N/A	INTRINSIC
low complexity region	1296	1318	N/A	INTRINSIC
low complexity region	1335	1344	N/A	INTRINSIC
low complexity region	1362	1373	N/A	INTRINSIC
low complexity region	1575	1589	N/A	INTRINSIC
low complexity region	2217	2227	N/A	INTRINSIC
low complexity region	2351	2362	N/A	INTRINSIC

Meta Mutation Damage Score

0.8787

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,558,229 (GRCm39)	E493G	probably damaging	Het
Aff3	A	T	1: 38,574,783 (GRCm39)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,380,274 (GRCm39)	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,091,138 (GRCm39)	T156A	probably benign	Het
Arhgef4	T	A	1: 34,763,241 (GRCm39)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,738,674 (GRCm39)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,873,291 (GRCm39)	T25A	probably benign	Het
Atp13a2	T	A	4: 140,729,771 (GRCm39)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,820,112 (GRCm39)	Y174*	probably null	Het
Bche	A	G	3: 73,607,953 (GRCm39)	I491T	probably benign	Het
Bckdhb	T	C	9: 83,835,836 (GRCm39)		probably null	Het
Cadps2	C	T	6: 23,320,931 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,289,341 (GRCm39)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,120,270 (GRCm39)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,814,077 (GRCm39)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,007 (GRCm39)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,541,301 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,527,295 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,678,208 (GRCm39)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,429,926 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,991,293 (GRCm39)	C2358S	probably damaging	Het
Entpd8	T	C	2: 24,974,318 (GRCm39)	S368P	probably benign	Het
Epg5	A	T	18: 78,067,205 (GRCm39)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,206,956 (GRCm39)	V623E	probably benign	Het
Flg2	A	G	3: 93,110,306 (GRCm39)	E778G	unknown	Het
Gbe1	C	T	16: 70,292,212 (GRCm39)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,830,196 (GRCm39)		probably null	Het
Hyal6	C	T	6: 24,734,031 (GRCm39)		probably benign	Het
Ifi27l2b	A	G	12: 103,417,578 (GRCm39)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,384,250 (GRCm39)	D309E	unknown	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm39)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mx1	T	C	16: 97,252,712 (GRCm39)	*289W	probably null	Het
Myo7b	T	C	18: 32,094,238 (GRCm39)	E1970G	probably damaging	Het
Mypn	T	C	10: 62,957,743 (GRCm39)	Y24C	probably damaging	Het
Naxe	G	C	3: 87,964,440 (GRCm39)	P167A	probably benign	Het
Nmnat2	A	T	1: 152,988,186 (GRCm39)	K272*	probably null	Het
Nmnat3	C	T	9: 98,236,164 (GRCm39)	T19M	probably damaging	Het
Or4f52	T	C	2: 111,062,043 (GRCm39)	I32V	probably benign	Het
Or51b17	A	T	7: 103,542,762 (GRCm39)	F60Y	probably damaging	Het
Or51b4	A	G	7: 103,530,799 (GRCm39)	V217A	probably benign	Het
Or5b118	A	G	19: 13,448,726 (GRCm39)	T131A	probably benign	Het
Or9s27	G	A	1: 92,516,111 (GRCm39)	V20M	probably benign	Het
Phf3	A	T	1: 30,851,023 (GRCm39)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,800,543 (GRCm39)	S3062A	probably benign	Het
Pogz	A	T	3: 94,777,437 (GRCm39)	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,320,356 (GRCm39)	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,732,368 (GRCm39)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,284,742 (GRCm39)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,310,324 (GRCm39)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,130,325 (GRCm39)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,030,496 (GRCm39)	S1307P	probably benign	Het
Rspo1	A	G	4: 124,901,538 (GRCm39)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,697,637 (GRCm39)	M922I	probably damaging	Het
Samm50	C	T	15: 84,095,328 (GRCm39)	A438V	probably damaging	Het
Sec1	A	C	7: 45,328,256 (GRCm39)	S264A	probably benign	Het
Sec31a	A	T	5: 100,529,195 (GRCm39)		probably null	Het
Slc13a3	T	C	2: 165,248,619 (GRCm39)	N553S	unknown	Het
Smg6	T	A	11: 74,836,942 (GRCm39)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,929,174 (GRCm39)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,365,113 (GRCm39)	R648G	probably damaging	Het
Sugct	T	G	13: 17,627,039 (GRCm39)		probably null	Het
Tmed10	A	G	12: 85,401,653 (GRCm39)	Y85H	probably damaging	Het
Trim68	A	G	7: 102,333,280 (GRCm39)	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,124 (GRCm39)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,067,176 (GRCm39)	R21W	probably damaging	Het
Ttn	T	C	2: 76,641,043 (GRCm39)	I11863V	probably null	Het
Ubp1	G	A	9: 113,793,647 (GRCm39)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,205,744 (GRCm39)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,481,999 (GRCm39)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,703,668 (GRCm39)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,805,424 (GRCm39)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,656,029 (GRCm39)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,794,914 (GRCm39)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,933,794 (GRCm39)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,766,395 (GRCm39)	H841N	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
R1499:Pgm3	UTSW	9	86,452,340 (GRCm39)	missense	probably benign	0.01
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'- AGGGGTATAAACTGGACCTCCCAC -3'
(R):5'- GCCAGTCTGTTACTCTCTGGCAAG -3'

Sequencing Primer
(F):5'- CCACTGAACTCAGTAACTTTTCAATC -3'
(R):5'- CTCTCTGGCAAGACTATTTAGAACAG -3'

Posted On

2014-05-23