Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01634:Pgm2'

93528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgm2

Ensembl Gene

ENSMUSG00000029171

Gene Name

phosphoglucomutase 2

Synonyms

Pgm-1, 3230402E02Rik, Pgm1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01634

Quality Score

Status

Chromosome

Chromosomal Location

64250293-64285694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64258317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 101 (F101L)

Ref Sequence

ENSEMBL: ENSMUSP00000084582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087324]

AlphaFold

Q7TSV4

Predicted Effect

probably benign
Transcript: ENSMUST00000087324
AA Change: F101L

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

SMART Domains

Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
AA Change: F101L

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:PGM_PMM_I	62	211	7.8e-37	PFAM
Pfam:PGM_PMM_II	235	344	1.9e-25	PFAM
Pfam:PGM_PMM_III	351	480	4.6e-15	PFAM
Pfam:PGM_PMM_IV	523	603	5.5e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175062

Predicted Effect

probably benign
Transcript: ENSMUST00000199093

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Four electrophoretic variants are known, each with a 5-band pattern: the a allele in C57BL/6, BALB/c and AKR; b allele in DBA/2 and SJL; c allele in C3H/He; and d allele in 129/Re. Heterozygotes show a mixture of bands. Mice homozygous for a spontaneous null allele or ENU induced alleles are viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034H15Rik	A	T	1: 191,633,016 (GRCm39)		noncoding transcript	Het
4933421I07Rik	C	T	7: 42,097,123 (GRCm39)	D63N	probably benign	Het
Alg9	C	A	9: 50,686,677 (GRCm39)		probably null	Het
Anln	T	C	9: 22,271,771 (GRCm39)	T695A	probably benign	Het
Aox4	G	T	1: 58,261,089 (GRCm39)	D141Y	possibly damaging	Het
Arhgap21	C	A	2: 20,919,455 (GRCm39)	Q84H	probably benign	Het
Arnt	G	A	3: 95,377,709 (GRCm39)		probably benign	Het
Atp8a2	T	A	14: 60,235,511 (GRCm39)	Y677F	probably benign	Het
Car6	C	T	4: 150,282,610 (GRCm39)	V12M	probably benign	Het
Cd209d	A	T	8: 3,927,974 (GRCm39)		probably null	Het
Ctnna1	T	A	18: 35,356,501 (GRCm39)	V390E	probably damaging	Het
Cypt4	T	A	9: 24,536,952 (GRCm39)	N147K	possibly damaging	Het
Dnah10	C	A	5: 124,898,405 (GRCm39)	A3729E	probably damaging	Het
Dusp8	A	G	7: 141,638,160 (GRCm39)	V156A	probably benign	Het
Ecm1	G	A	3: 95,642,211 (GRCm39)	P458L	probably damaging	Het
Fat3	T	G	9: 15,909,654 (GRCm39)	Y2116S	probably damaging	Het
Fscn3	T	A	6: 28,430,537 (GRCm39)	Y236N	probably damaging	Het
Gaa	G	A	11: 119,164,902 (GRCm39)	S265N	possibly damaging	Het
Gas7	T	C	11: 67,565,057 (GRCm39)		probably benign	Het
Gbp8	T	C	5: 105,166,438 (GRCm39)	K297R	probably damaging	Het
Gm1818	G	A	12: 48,602,992 (GRCm39)		noncoding transcript	Het
Gm5114	G	T	7: 39,058,071 (GRCm39)	T516K	probably benign	Het
Hectd1	A	G	12: 51,850,562 (GRCm39)	S165P	probably damaging	Het
Hoxb4	G	T	11: 96,209,726 (GRCm39)	R44L	probably damaging	Het
Ivd	G	A	2: 118,706,863 (GRCm39)	R285H	probably damaging	Het
Krtap20-2	T	C	16: 89,002,977 (GRCm39)	F59S	unknown	Het
Megf8	G	A	7: 25,058,206 (GRCm39)		probably benign	Het
Mgat4d	A	T	8: 84,094,745 (GRCm39)	M261L	possibly damaging	Het
Mlc1	A	T	15: 88,858,921 (GRCm39)		probably benign	Het
Mmp20	T	A	9: 7,635,149 (GRCm39)	Y43*	probably null	Het
Morc3	G	A	16: 93,670,125 (GRCm39)	V767I	probably benign	Het
Myo15a	A	G	11: 60,386,298 (GRCm39)	T1808A	probably damaging	Het
Notch4	T	C	17: 34,791,562 (GRCm39)	F574L	probably damaging	Het
Npas3	G	A	12: 53,993,946 (GRCm39)	V164M	probably damaging	Het
Nptx1	A	G	11: 119,435,498 (GRCm39)	Y273H	probably damaging	Het
Oaf	T	C	9: 43,135,301 (GRCm39)	N159S	probably damaging	Het
Or10a3n	A	T	7: 108,493,292 (GRCm39)	F107L	probably benign	Het
Or4c111	T	A	2: 88,843,788 (GRCm39)	I207F	probably damaging	Het
Or5ak24	A	T	2: 85,260,783 (GRCm39)	L130H	probably damaging	Het
Pkd1l3	A	C	8: 110,394,157 (GRCm39)		probably null	Het
Plcd1	C	T	9: 118,902,857 (GRCm39)	R527H	probably damaging	Het
Rexo2	C	T	9: 48,380,215 (GRCm39)	E206K	probably damaging	Het
Ropn1	C	A	16: 34,487,148 (GRCm39)	T28N	possibly damaging	Het
Ropn1	A	T	16: 34,487,141 (GRCm39)	I26F	probably damaging	Het
Rpgrip1l	C	A	8: 91,979,171 (GRCm39)	S998I	probably benign	Het
Rpgrip1l	T	A	8: 91,979,172 (GRCm39)	S998C	probably benign	Het
Scap	T	C	9: 110,207,857 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,401,150 (GRCm39)	Y4H	probably damaging	Het
Sfrp4	C	A	13: 19,807,800 (GRCm39)	D66E	possibly damaging	Het
Slc25a36	T	C	9: 96,962,534 (GRCm39)	T13A	probably benign	Het
Synpr	A	T	14: 13,608,576 (GRCm38)	I119F	possibly damaging	Het
Tamm41	A	C	6: 114,993,059 (GRCm39)	H109Q	probably benign	Het
Tet1	A	T	10: 62,714,367 (GRCm39)	I476K	possibly damaging	Het
Tg	A	T	15: 66,601,415 (GRCm39)	I142F	probably benign	Het
Thada	A	T	17: 84,700,786 (GRCm39)		probably null	Het
Triobp	T	C	15: 78,877,568 (GRCm39)	L1654P	probably damaging	Het
Trpm7	A	G	2: 126,668,738 (GRCm39)	V726A	probably damaging	Het
Txndc15	T	G	13: 55,869,438 (GRCm39)	V197G	probably damaging	Het
Ubr3	A	T	2: 69,803,916 (GRCm39)	T1169S	probably benign	Het
Uhmk1	C	T	1: 170,034,682 (GRCm39)		probably null	Het
Vmn2r16	T	A	5: 109,488,177 (GRCm39)	M350K	probably benign	Het
Vmn2r77	G	A	7: 86,460,857 (GRCm39)	V728I	probably benign	Het
Wipf1	G	A	2: 73,278,225 (GRCm39)	P7S	unknown	Het
Zswim3	A	G	2: 164,661,922 (GRCm39)	D134G	probably damaging	Het

Other mutations in Pgm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Pgm2	APN	5	64,265,612 (GRCm39)	splice site	probably benign
IGL01068:Pgm2	APN	5	64,265,139 (GRCm39)	missense	probably damaging	0.99
IGL01112:Pgm2	APN	5	64,260,225 (GRCm39)	missense	possibly damaging	0.86
IGL02513:Pgm2	APN	5	64,260,289 (GRCm39)	unclassified	probably benign
R0255:Pgm2	UTSW	5	64,269,386 (GRCm39)	missense	possibly damaging	0.93
R0268:Pgm2	UTSW	5	64,263,151 (GRCm39)	missense	probably damaging	1.00
R0511:Pgm2	UTSW	5	64,267,898 (GRCm39)	missense	probably damaging	1.00
R0722:Pgm2	UTSW	5	64,265,022 (GRCm39)	nonsense	probably null
R0881:Pgm2	UTSW	5	64,250,351 (GRCm39)	missense	unknown
R0924:Pgm2	UTSW	5	64,269,490 (GRCm39)	missense	possibly damaging	0.90
R0930:Pgm2	UTSW	5	64,269,490 (GRCm39)	missense	possibly damaging	0.90
R1773:Pgm2	UTSW	5	64,265,194 (GRCm39)	critical splice donor site	probably null
R1777:Pgm2	UTSW	5	64,285,125 (GRCm39)	missense	probably benign
R2137:Pgm2	UTSW	5	64,273,709 (GRCm39)	missense	probably benign
R2244:Pgm2	UTSW	5	64,264,045 (GRCm39)	missense	probably benign	0.00
R3946:Pgm2	UTSW	5	64,269,404 (GRCm39)	missense	probably benign
R4301:Pgm2	UTSW	5	64,261,140 (GRCm39)	nonsense	probably null
R4601:Pgm2	UTSW	5	64,265,070 (GRCm39)	missense	probably benign	0.02
R4631:Pgm2	UTSW	5	64,263,290 (GRCm39)	splice site	probably null
R4795:Pgm2	UTSW	5	64,261,217 (GRCm39)	missense	probably damaging	1.00
R4871:Pgm2	UTSW	5	64,261,237 (GRCm39)	missense	probably benign
R4893:Pgm2	UTSW	5	64,263,283 (GRCm39)	missense	probably benign
R4907:Pgm2	UTSW	5	64,261,221 (GRCm39)	missense	probably benign	0.00
R4915:Pgm2	UTSW	5	64,258,291 (GRCm39)	missense	probably damaging	1.00
R5092:Pgm2	UTSW	5	64,265,092 (GRCm39)	missense	possibly damaging	0.49
R5197:Pgm2	UTSW	5	64,263,175 (GRCm39)	missense	possibly damaging	0.87
R5621:Pgm2	UTSW	5	64,269,381 (GRCm39)	nonsense	probably null
R6311:Pgm2	UTSW	5	64,273,758 (GRCm39)	missense	probably benign	0.05
R6651:Pgm2	UTSW	5	64,269,437 (GRCm39)	missense	probably benign	0.07
R6731:Pgm2	UTSW	5	64,258,318 (GRCm39)	missense	probably benign	0.27
R6885:Pgm2	UTSW	5	64,261,221 (GRCm39)	missense	probably benign	0.00
R6919:Pgm2	UTSW	5	64,254,368 (GRCm39)	missense	probably benign	0.11
R7211:Pgm2	UTSW	5	64,263,193 (GRCm39)	missense	probably damaging	0.99
R7631:Pgm2	UTSW	5	64,265,522 (GRCm39)	missense	possibly damaging	0.90
R7982:Pgm2	UTSW	5	64,258,302 (GRCm39)	missense	probably damaging	1.00
R8070:Pgm2	UTSW	5	64,269,425 (GRCm39)	missense	probably benign	0.00
R8161:Pgm2	UTSW	5	64,269,503 (GRCm39)	missense	probably damaging	1.00
R8181:Pgm2	UTSW	5	64,269,467 (GRCm39)	missense	possibly damaging	0.83
R9110:Pgm2	UTSW	5	64,261,159 (GRCm39)	missense	probably benign	0.01
R9333:Pgm2	UTSW	5	64,263,100 (GRCm39)	missense	probably benign
R9580:Pgm2	UTSW	5	64,265,092 (GRCm39)	missense	possibly damaging	0.49
R9673:Pgm2	UTSW	5	64,273,671 (GRCm39)	missense	probably damaging	1.00
R9681:Pgm2	UTSW	5	64,254,391 (GRCm39)	missense	probably benign

Posted On

2013-12-09