Mutagenetix > Incidental Mutations

Incidental Mutation 'R4651:Pgm3'

351295

Institutional Source

Beutler Lab

Gene Symbol

Pgm3

Ensembl Gene

ENSMUSG00000056131

Gene Name

phosphoglucomutase 3

Synonyms

Pgm-3, GlcNAc-P mutase, 2810473H05Rik

MMRRC Submission

041911-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86554377-86571842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86558470 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 389 (R389S)

Ref Sequence

ENSEMBL: ENSMUSP00000072390 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000070064
AA Change: R389S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: R389S

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: R389S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: R389S

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (98/101)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Ahnak2	T	G	12: 112,774,837	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,515,826	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,684,027	V543A	probably benign	Het
Ano10	A	T	9: 122,261,115	Y377*	probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp10b	G	A	11: 43,194,645	G284S	probably damaging	Het
Atp5c1	A	G	2: 10,063,476	F180S	probably damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Ccnf	C	A	17: 24,231,786	R406L	probably damaging	Het
Ceacam12	A	G	7: 18,067,434	T113A	probably damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Col12a1	A	T	9: 79,612,946	D2815E	probably damaging	Het
Cpox	G	T	16: 58,670,687	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,038	I607T	possibly damaging	Het
Cux1	A	T	5: 136,567,229	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,994,891	T136A	probably benign	Het
Dhx58	T	A	11: 100,701,359	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,729,143	Y127H	probably benign	Het
Dnd1	G	A	18: 36,765,061		probably benign	Het
Ehmt2	C	A	17: 34,913,814	N1171K	probably damaging	Het
Fanci	T	A	7: 79,435,256	M838K	possibly damaging	Het
Flot1	T	C	17: 35,832,544		probably benign	Het
Gad2	A	T	2: 22,668,362	D364V	probably damaging	Het
Gm10375	C	A	14: 43,606,869		probably null	Het
Gm9996	T	A	10: 29,143,758		probably benign	Het
Gnat3	T	A	5: 18,015,570	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,145,291	C261Y	probably damaging	Het
Irgc1	C	A	7: 24,432,813	R193L	probably damaging	Het
Kalrn	G	T	16: 34,176,391	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,194,064	H15N	probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Llgl1	A	G	11: 60,708,651	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,477,386	W790R	probably damaging	Het
Lsm2	T	A	17: 34,985,595		probably benign	Het
Med8	A	T	4: 118,410,892	E5V	probably damaging	Het
Mefv	A	G	16: 3,717,818	L82P	probably damaging	Het
Mettl3	T	A	14: 52,295,092	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,911,832		probably benign	Het
Ncapg2	T	A	12: 116,425,787	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070	Y187F	probably damaging	Het
Nomo1	T	A	7: 46,068,442	I799N	probably damaging	Het
Obscn	G	A	11: 59,038,877	R5824C	probably damaging	Het
Olfr1310	G	T	2: 112,008,250	S312Y	probably damaging	Het
Olfr430	A	G	1: 174,069,828	I177V	possibly damaging	Het
Olfr807	T	C	10: 129,755,418	I11V	probably benign	Het
Olfr849	T	A	9: 19,441,295	C127*	probably null	Het
Pkd2l2	A	T	18: 34,409,836	R20*	probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,082,911		probably benign	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,723,274	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,263,690	I137T	probably damaging	Het
Rrnad1	T	C	3: 87,927,672	H107R	probably benign	Het
Sdr42e1	T	C	8: 117,663,621	T94A	probably benign	Het
Setd2	A	G	9: 110,594,132	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560		probably benign	Het
Shisa3	A	G	5: 67,608,649	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,422,471	L1248*	probably null	Het
Skint7	T	G	4: 111,982,112	M201R	probably damaging	Het
Slc5a3	T	A	16: 92,077,202	V49E	probably benign	Het
Slc9c1	A	T	16: 45,547,393	*163L	probably null	Het
Smyd3	A	G	1: 179,043,741	Y358H	probably benign	Het
Srp68	A	T	11: 116,274,014	S31R	probably benign	Het
Stag1	T	A	9: 100,796,716	M230K	probably damaging	Het
Strc	A	T	2: 121,374,348	D985E	possibly damaging	Het
Syne2	A	G	12: 75,989,239	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,375,425	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,207,887	F863S	probably damaging	Het
Tek	T	C	4: 94,780,884	S41P	probably damaging	Het
Top1	T	C	2: 160,712,717	Y463H	probably damaging	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Ttn	A	G	2: 76,746,635	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,870,869		probably benign	Het
Tyro3	G	C	2: 119,816,868	G826A	probably benign	Het
Ube2b	A	G	11: 51,995,372		probably null	Het
Ubxn4	T	A	1: 128,274,850	W410R	probably benign	Het
Unc45a	T	C	7: 80,333,029	K383E	possibly damaging	Het
Usp7	A	C	16: 8,698,414		probably benign	Het
Vmn1r193	C	T	13: 22,219,525	G99D	probably damaging	Het
Vrk2	T	C	11: 26,489,803	D256G	probably damaging	Het
Wdr81	A	G	11: 75,451,240	V1067A	probably damaging	Het
Wiz	C	T	17: 32,357,681	R624Q	probably damaging	Het
Zcwpw2	A	G	9: 118,014,051		noncoding transcript	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
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
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	intron	probably null
R7152:Pgm3	UTSW	9	86567540	missense	probably benign	0.13
R7274:Pgm3	UTSW	9	86562597	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'- AGTCTAAGTCTTAACAGTGGACAAC -3'
(R):5'- TCAAGATGTGCGTGGAGAAC -3'

Sequencing Primer
(F):5'- TGGACAACACAGTTAGAAACAAAC -3'
(R):5'- CACATGTCTTAGTTTTTGTCAAGCAG -3'

Posted On

2015-10-08