Mutagenetix > Incidental Mutation

Incidental Mutation 'R0266:Pgm3'

163271

Institutional Source

Beutler Lab

Gene Symbol

Pgm3

Ensembl Gene

ENSMUSG00000056131

Gene Name

phosphoglucomutase 3

Synonyms

Pgm-3, 2810473H05Rik, GlcNAc-P mutase

MMRRC Submission

038492-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0266 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

86436430-86453895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86449586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 145 (T145A)

Ref Sequence

ENSEMBL: ENSMUSP00000072390 (fasta)

Gene Model

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

AlphaFold

Q9CYR6

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: T145A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070871
Gene: ENSMUSG00000056131
AA Change: T145A

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: T145A

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

SMART Domains

Protein: ENSMUSP00000072390
Gene: ENSMUSG00000056131
AA Change: T145A

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

0.0729

Coding Region Coverage

1x: 98.3%
3x: 97.2%
10x: 94.9%
20x: 89.8%

Validation Efficiency

100% (79/79)

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
1700001K19Rik	A	G	12: 110,635,188 (GRCm39)	S117P	possibly damaging	Het
Aars2	T	C	17: 45,818,436 (GRCm39)		probably benign	Het
Acot11	T	C	4: 106,607,185 (GRCm39)	D466G	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Apbb2	A	T	5: 66,459,954 (GRCm39)	N714K	probably benign	Het
Aqp12	C	A	1: 92,934,572 (GRCm39)	H150N	possibly damaging	Het
Brinp3	T	A	1: 146,558,418 (GRCm39)	L114*	probably null	Het
Ccng2	T	C	5: 93,419,148 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,003,250 (GRCm39)	R265S	probably benign	Het
Ces4a	T	C	8: 105,868,598 (GRCm39)	L104S	probably benign	Het
Clca4b	T	C	3: 144,628,547 (GRCm39)	I387V	probably damaging	Het
Cul7	T	A	17: 46,965,521 (GRCm39)	H566Q	probably benign	Het
Ddx60	A	T	8: 62,486,527 (GRCm39)	H1646L	possibly damaging	Het
Dntt	T	C	19: 41,047,566 (GRCm39)	I503T	probably damaging	Het
Dynlt1a	T	G	17: 6,367,670 (GRCm39)	E2D	probably benign	Het
Efemp2	G	T	19: 5,528,027 (GRCm39)	C78F	probably damaging	Het
Esco1	T	C	18: 10,594,605 (GRCm39)	E227G	probably benign	Het
Fezf2	T	A	14: 12,342,607 (GRCm38)	K419N	probably damaging	Het
Gm17541	A	T	12: 4,739,487 (GRCm39)		probably benign	Het
Gm2381	G	A	7: 42,469,372 (GRCm39)	Q251*	probably null	Het
Gm4782	T	G	6: 50,587,674 (GRCm39)	S686R	probably damaging	Het
Grin3a	G	A	4: 49,665,501 (GRCm39)	R1045*	probably null	Het
Grm8	T	C	6: 27,285,895 (GRCm39)	Y839C	probably damaging	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc2	T	A	7: 55,856,326 (GRCm39)	H3921Q	probably damaging	Het
Hes6	A	T	1: 91,340,026 (GRCm39)	D143E	possibly damaging	Het
Hmcn2	A	G	2: 31,284,839 (GRCm39)	E2055G	probably benign	Het
Hmcn2	G	A	2: 31,335,365 (GRCm39)		probably benign	Het
Ikzf3	A	G	11: 98,358,143 (GRCm39)	L398P	probably benign	Het
Il10ra	A	T	9: 45,176,950 (GRCm39)	I125N	probably benign	Het
Kcnb2	G	A	1: 15,783,137 (GRCm39)		probably benign	Het
Krt77	T	C	15: 101,777,813 (GRCm39)	R81G	possibly damaging	Het
Lrrc40	T	A	3: 157,747,298 (GRCm39)		probably null	Het
Man1a2	C	T	3: 100,489,350 (GRCm39)	R543Q	probably damaging	Het
Mansc1	T	C	6: 134,587,670 (GRCm39)	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835 (GRCm39)	S3869T	probably damaging	Het
Mettl14	A	T	3: 123,176,475 (GRCm39)	S58T	probably benign	Het
Mrpl4	T	C	9: 20,914,610 (GRCm39)	V62A	probably benign	Het
Myh3	A	G	11: 66,984,498 (GRCm39)	D1085G	possibly damaging	Het
Myo5c	C	A	9: 75,191,498 (GRCm39)		probably benign	Het
Naalad2	G	T	9: 18,262,239 (GRCm39)		probably benign	Het
Nat3	A	G	8: 68,000,432 (GRCm39)	T104A	probably benign	Het
Nek4	A	G	14: 30,679,253 (GRCm39)	E198G	probably damaging	Het
Olfm1	A	G	2: 28,119,619 (GRCm39)	Y403C	probably damaging	Het
Or5w11	C	A	2: 87,459,626 (GRCm39)	T273K	possibly damaging	Het
Or7e177	A	T	9: 20,212,454 (GRCm39)	R320S	probably benign	Het
Osbpl1a	T	A	18: 13,004,220 (GRCm39)		probably null	Het
Pax7	G	A	4: 139,507,047 (GRCm39)	S330L	possibly damaging	Het
Pcdhb15	C	A	18: 37,608,329 (GRCm39)	D520E	probably damaging	Het
Phox2b	G	A	5: 67,253,968 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,417,234 (GRCm39)	R59*	probably null	Het
Pold1	A	G	7: 44,190,449 (GRCm39)		probably benign	Het
Ppp1r21	T	C	17: 88,876,500 (GRCm39)		probably benign	Het
Prl5a1	A	G	13: 28,333,970 (GRCm39)	K158E	possibly damaging	Het
Rag2	T	G	2: 101,460,948 (GRCm39)	C419W	probably damaging	Het
Reln	A	G	5: 22,193,774 (GRCm39)	S1395P	probably damaging	Het
Retnlb	T	G	16: 48,639,022 (GRCm39)	Y74*	probably null	Het
Robo3	A	G	9: 37,333,936 (GRCm39)	S633P	probably damaging	Het
Ryr1	A	G	7: 28,740,104 (GRCm39)	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,511,698 (GRCm39)	N370S	probably damaging	Het
Slc6a5	C	A	7: 49,588,156 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,252,247 (GRCm39)	N481K	probably benign	Het
Sptlc3	T	A	2: 139,437,957 (GRCm39)	I417K	possibly damaging	Het
Svil	T	A	18: 5,099,063 (GRCm39)		probably benign	Het
Taf4b	T	C	18: 14,946,134 (GRCm39)		probably benign	Het
Tchp	T	C	5: 114,847,394 (GRCm39)	M71T	possibly damaging	Het
Thsd4	T	A	9: 59,904,417 (GRCm39)	H233L	probably benign	Het
Tmem217	G	T	17: 29,745,573 (GRCm39)	N52K	possibly damaging	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Uqcrfs1	A	C	13: 30,725,146 (GRCm39)	N131K	probably benign	Het
Vars1	T	A	17: 35,232,845 (GRCm39)	S896R	probably benign	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r22	T	C	6: 123,614,363 (GRCm39)	Y409C	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wdr49	A	T	3: 75,359,103 (GRCm39)	I8N	possibly damaging	Het
Zfp648	T	A	1: 154,080,632 (GRCm39)	Y264N	probably damaging	Het
Zmym1	A	C	4: 126,941,818 (GRCm39)	F857V	possibly 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
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
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'- TCTAGCAGGCAAAAGGTGTCACAAG -3'
(R):5'- GCATCATTGTACCTGACTGGCTCTC -3'

Sequencing Primer
(F):5'- GCAAAAAGATTTAATATGCTCTGCC -3'
(R):5'- tctgtagtctgtaaatttgaaagcc -3'

Posted On

2014-03-26