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, GlcNAc-P mutase, 2810473H05Rik

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86554377-86571842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86556204 bp (GRCm38)

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: ENSMUST00000189564

Predicted Effect

probably benign
Transcript: ENSMUST00000189817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190924

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: 148,852,593	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897	Y174*	probably null	Het
Bche	A	G	3: 73,700,620	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783		probably null	Het
Cadps2	C	T	6: 23,320,932		probably null	Het
Cdc42bpb	A	T	12: 111,322,907	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876		probably benign	Het
Cyp2c39	C	A	19: 39,538,851		probably benign	Het
Cyp2d26	T	C	15: 82,794,007	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147		probably benign	Het
Dnah11	A	T	12: 118,027,558	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324	R515*	probably null	Het
Hsd17b6	A	G	10: 127,994,327		probably null	Het
Hyal6	C	T	6: 24,734,032		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mx1	T	C	16: 97,451,512	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185	E1970G	probably damaging	Het
Mypn	T	C	10: 63,121,964	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592	V217A	probably benign	Het
Phf3	A	T	1: 30,811,942	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336		probably null	Het
Slc13a3	T	C	2: 165,406,699	N553S	unknown	Het
Smg6	T	A	11: 74,946,116	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454		probably null	Het
Tmed10	A	G	12: 85,354,879	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327	H841N	probably damaging	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
R7274_Pgm3_459	UTSW	9	86562597	missense	probably damaging	1.00
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
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
R2679:Pgm3	UTSW	9	86569321	missense	probably benign	0.32
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
R9115:Pgm3	UTSW	9	86565609	missense	probably damaging	0.98
R9224:Pgm3	UTSW	9	86556362	missense	probably benign	0.15
R9336:Pgm3	UTSW	9	86555360	missense	probably benign
R9422:Pgm3	UTSW	9	86561885	missense	probably damaging	0.97
R9705:Pgm3	UTSW	9	86555361	missense	probably benign
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'- AGGGGTATAAACTGGACCTCCCAC -3'
(R):5'- GCCAGTCTGTTACTCTCTGGCAAG -3'

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

Posted On

2014-05-23