Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Pgm3'

383014

Institutional Source

Beutler Lab

Gene Symbol

Pgm3

Ensembl Gene

ENSMUSG00000056131

Gene Name

phosphoglucomutase 3

Synonyms

Pgm-3, GlcNAc-P mutase, 2810473H05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86554377-86571842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86559476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 356 (L356S)

Ref Sequence

ENSEMBL: ENSMUSP00000072390 (fasta)

Gene Model

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

AlphaFold

Q9CYR6

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: L356S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: L356S

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: L356S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: L356S

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,591,325 (GRCm38)	T240A	probably benign	Het
Abca15	T	C	7: 120,332,694 (GRCm38)	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,666,529 (GRCm38)	I641T	possibly damaging	Het
Ankrd11	A	G	8: 122,889,821 (GRCm38)	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,452,261 (GRCm38)	L14F	probably null	Het
Arhgdia	T	C	11: 120,579,235 (GRCm38)	D204G	probably damaging	Het
Armh4	A	T	14: 49,773,482 (GRCm38)	M256K	probably benign	Het
Catsperd	A	T	17: 56,662,736 (GRCm38)	Y610F	possibly damaging	Het
Cblb	T	A	16: 52,033,103 (GRCm38)	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453 (GRCm38)	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508 (GRCm38)	H911R	probably damaging	Het
Cdh23	T	A	10: 60,307,935 (GRCm38)	I2966F	probably damaging	Het
Cfap299	A	G	5: 98,737,636 (GRCm38)	H134R	possibly damaging	Het
Chat	G	A	14: 32,419,105 (GRCm38)	P445L	probably damaging	Het
Chdh	G	T	14: 30,032,852 (GRCm38)	R273L	possibly damaging	Het
Clic3	T	C	2: 25,457,917 (GRCm38)	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,558,050 (GRCm38)	D244E	probably benign	Het
Ddr1	T	A	17: 35,690,130 (GRCm38)	D241V	probably damaging	Het
Dock7	T	A	4: 99,020,077 (GRCm38)	K605N	probably damaging	Het
Dsg2	T	A	18: 20,579,430 (GRCm38)	F164I	probably damaging	Het
Dstyk	T	A	1: 132,453,106 (GRCm38)	N446K	probably damaging	Het
Epb42	A	T	2: 121,034,451 (GRCm38)	L53Q	probably damaging	Het
Extl2	G	C	3: 116,027,192 (GRCm38)	K229N	probably benign	Het
Frmd4b	T	A	6: 97,298,090 (GRCm38)	S617C	probably damaging	Het
Fscb	C	T	12: 64,473,814 (GRCm38)	V293I	probably benign	Het
Glp2r	G	T	11: 67,757,593 (GRCm38)	Y94*	probably null	Het
Gm4978	A	C	9: 69,450,872 (GRCm38)		probably benign	Het
Gm6729	A	G	10: 86,540,388 (GRCm38)		noncoding transcript	Het
Gnat2	A	C	3: 108,100,616 (GRCm38)	N293T	probably benign	Het
Herpud1	T	C	8: 94,390,842 (GRCm38)	I142T	probably benign	Het
Irak2	G	A	6: 113,693,730 (GRCm38)	V536I	probably benign	Het
Kcnu1	A	T	8: 25,897,862 (GRCm38)		probably null	Het
Kdm4a	A	G	4: 118,161,754 (GRCm38)	S422P	probably benign	Het
Lair1	T	A	7: 4,028,949 (GRCm38)	D53V	probably benign	Het
Lhx1	G	T	11: 84,519,909 (GRCm38)	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,497,612 (GRCm38)	T2329I	unknown	Het
Mag	T	C	7: 30,909,200 (GRCm38)	D163G	probably damaging	Het
Magi3	A	G	3: 104,051,392 (GRCm38)	V459A	probably damaging	Het
Med13	A	G	11: 86,288,118 (GRCm38)	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,360,706 (GRCm38)	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,228,024 (GRCm38)	C221R	probably damaging	Het
Mtus1	T	A	8: 41,041,478 (GRCm38)	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,523,573 (GRCm38)	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,190,918 (GRCm38)	G72S	probably benign	Het
Nutm2	T	C	13: 50,474,873 (GRCm38)	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,222,590 (GRCm38)	V239A	possibly damaging	Het
Pcnx1	C	T	12: 81,917,793 (GRCm38)	H245Y	possibly damaging	Het
Pik3r4	C	G	9: 105,668,994 (GRCm38)	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,844,585 (GRCm38)	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625 (GRCm38)	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,211,740 (GRCm38)	T705A	probably benign	Het
Prmt7	T	C	8: 106,237,278 (GRCm38)	V268A	probably benign	Het
Psd	C	T	19: 46,322,417 (GRCm38)	G398R	probably damaging	Het
Pygl	A	G	12: 70,206,381 (GRCm38)	V188A	probably damaging	Het
Rnf13	T	A	3: 57,796,206 (GRCm38)	N110K	probably damaging	Het
Rnf170	C	T	8: 26,125,911 (GRCm38)	Q77*	probably null	Het
Rrp8	A	T	7: 105,734,077 (GRCm38)	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,424,726 (GRCm38)	D228G	probably damaging	Het
Scgn	T	A	13: 23,989,824 (GRCm38)	T35S	probably benign	Het
Scyl3	C	T	1: 163,934,747 (GRCm38)	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074 (GRCm38)	S123A	probably benign	Het
Sertad2	T	C	11: 20,647,899 (GRCm38)	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,133,803 (GRCm38)		probably null	Het
Sult2a2	T	G	7: 13,738,298 (GRCm38)	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,507,231 (GRCm38)	S320T	probably benign	Het
Trabd2b	T	C	4: 114,408,944 (GRCm38)	Y52H	probably damaging	Het
Traf2	T	C	2: 25,530,288 (GRCm38)	E183G	probably null	Het
Trip10	G	T	17: 57,263,017 (GRCm38)	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,306,958 (GRCm38)	V184F	probably benign	Het
Ubc	A	G	5: 125,386,229 (GRCm38)	V678A	probably benign	Het
Unk	A	G	11: 116,053,665 (GRCm38)	E414G	possibly damaging	Het
Usp42	T	C	5: 143,719,762 (GRCm38)	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,436,769 (GRCm38)	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,066,434 (GRCm38)	H1364Q	possibly damaging	Het

Other mutations in Pgm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Pgm3	APN	9	86,561,879 (GRCm38)	missense	probably damaging	0.96
IGL01865:Pgm3	APN	9	86,555,318 (GRCm38)	missense	possibly damaging	0.85
IGL02800:Pgm3	APN	9	86,555,378 (GRCm38)	missense	possibly damaging	0.94
R6592_Pgm3_648	UTSW	9	86,559,443 (GRCm38)	missense	possibly damaging	0.87
R7274_Pgm3_459	UTSW	9	86,562,597 (GRCm38)	missense	probably damaging	1.00
R0038:Pgm3	UTSW	9	86,564,673 (GRCm38)	splice site	probably benign
R0038:Pgm3	UTSW	9	86,564,673 (GRCm38)	splice site	probably benign
R0266:Pgm3	UTSW	9	86,567,533 (GRCm38)	missense	probably benign	0.00
R0536:Pgm3	UTSW	9	86,567,536 (GRCm38)	missense	possibly damaging	0.83
R0617:Pgm3	UTSW	9	86,556,190 (GRCm38)	critical splice donor site	probably null
R1499:Pgm3	UTSW	9	86,570,287 (GRCm38)	missense	probably benign	0.01
R1780:Pgm3	UTSW	9	86,556,204 (GRCm38)	missense	probably damaging	1.00
R1838:Pgm3	UTSW	9	86,569,233 (GRCm38)	missense	probably benign	0.03
R1882:Pgm3	UTSW	9	86,565,690 (GRCm38)	missense	possibly damaging	0.72
R1920:Pgm3	UTSW	9	86,558,478 (GRCm38)	missense	possibly damaging	0.47
R2095:Pgm3	UTSW	9	86,556,341 (GRCm38)	missense	probably damaging	0.99
R2378:Pgm3	UTSW	9	86,562,667 (GRCm38)	missense	probably damaging	0.97
R2679:Pgm3	UTSW	9	86,569,321 (GRCm38)	missense	probably benign	0.32
R3021:Pgm3	UTSW	9	86,567,535 (GRCm38)	missense	possibly damaging	0.95
R3686:Pgm3	UTSW	9	86,559,510 (GRCm38)	missense	probably benign	0.37
R4490:Pgm3	UTSW	9	86,561,840 (GRCm38)	missense	probably damaging	1.00
R4651:Pgm3	UTSW	9	86,558,470 (GRCm38)	missense	probably benign	0.01
R4652:Pgm3	UTSW	9	86,558,470 (GRCm38)	missense	probably benign	0.01
R4718:Pgm3	UTSW	9	86,570,395 (GRCm38)	missense	probably benign	0.00
R4883:Pgm3	UTSW	9	86,569,325 (GRCm38)	missense	probably damaging	1.00
R4973:Pgm3	UTSW	9	86,562,679 (GRCm38)	missense	probably benign
R4990:Pgm3	UTSW	9	86,558,412 (GRCm38)	missense	probably damaging	0.97
R5357:Pgm3	UTSW	9	86,556,257 (GRCm38)	nonsense	probably null
R5870:Pgm3	UTSW	9	86,570,361 (GRCm38)	missense	probably damaging	0.99
R6592:Pgm3	UTSW	9	86,559,443 (GRCm38)	missense	possibly damaging	0.87
R6807:Pgm3	UTSW	9	86,556,502 (GRCm38)	splice site	probably null
R7152:Pgm3	UTSW	9	86,567,540 (GRCm38)	missense	probably benign	0.13
R7274:Pgm3	UTSW	9	86,562,597 (GRCm38)	missense	probably damaging	1.00
R8112:Pgm3	UTSW	9	86,564,775 (GRCm38)	missense	probably benign
R8195:Pgm3	UTSW	9	86,570,321 (GRCm38)	missense	probably damaging	1.00
R9115:Pgm3	UTSW	9	86,565,609 (GRCm38)	missense	probably damaging	0.98
R9224:Pgm3	UTSW	9	86,556,362 (GRCm38)	missense	probably benign	0.15
R9336:Pgm3	UTSW	9	86,555,360 (GRCm38)	missense	probably benign
R9422:Pgm3	UTSW	9	86,561,885 (GRCm38)	missense	probably damaging	0.97
R9705:Pgm3	UTSW	9	86,555,361 (GRCm38)	missense	probably benign
X0028:Pgm3	UTSW	9	86,569,355 (GRCm38)	missense	probably damaging	1.00
Z1088:Pgm3	UTSW	9	86,564,707 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AACTCCAGACCTCATGCCTG -3'
(R):5'- CTACTTGCAGGCGTTTTCCG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TCCGCGTGGCCTCTTTGG -3'

Posted On

2016-04-27