Mutagenetix > Incidental Mutation

Incidental Mutation 'R4871:Pgm2'

376573

Institutional Source

Beutler Lab

Gene Symbol

Pgm2

Ensembl Gene

ENSMUSG00000029171

Gene Name

phosphoglucomutase 2

Synonyms

Pgm-1, 3230402E02Rik, Pgm1

MMRRC Submission

042481-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64250293-64285694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64261237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 244 (Y244H)

Ref Sequence

ENSEMBL: ENSMUSP00000084582 (fasta)

Gene Model

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

AlphaFold

Q7TSV4

Predicted Effect

probably benign
Transcript: ENSMUST00000087324
AA Change: Y244H

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

SMART Domains

Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
AA Change: Y244H

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: ENSMUST00000129152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177427

Predicted Effect

probably benign
Transcript: ENSMUST00000199093

Meta Mutation Damage Score

0.0824

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

93% (99/107)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,457,078 (GRCm39)	T270A	probably null	Het
Adgrv1	A	T	13: 81,681,241 (GRCm39)		probably benign	Het
Aldh1b1	A	T	4: 45,803,383 (GRCm39)	D307V	probably benign	Het
Aldh3a2	A	T	11: 61,153,065 (GRCm39)	C220*	probably null	Het
Ank2	T	C	3: 126,753,444 (GRCm39)	Y279C	probably damaging	Het
Anks1	T	C	17: 28,210,351 (GRCm39)	Y444H	probably benign	Het
Asph	G	T	4: 9,531,968 (GRCm39)	T383K	probably benign	Het
Asphd1	G	T	7: 126,547,747 (GRCm39)	S185R	possibly damaging	Het
Bcl2a1d	T	A	9: 88,613,748 (GRCm39)	I9F	probably damaging	Het
Bcl2l11	T	C	2: 127,970,961 (GRCm39)		probably benign	Het
C2cd3	T	G	7: 100,062,581 (GRCm39)	S656A	possibly damaging	Het
Cd5l	T	C	3: 87,274,929 (GRCm39)	V156A	probably damaging	Het
Cdh8	G	C	8: 99,757,536 (GRCm39)	N687K	probably damaging	Het
Cdk19	A	G	10: 40,352,232 (GRCm39)	D338G	probably benign	Het
Cenpf	A	G	1: 189,390,728 (GRCm39)	C1035R	probably damaging	Het
Cep290	A	G	10: 100,384,776 (GRCm39)	R1845G	probably benign	Het
Cep295nl	G	T	11: 118,224,650 (GRCm39)	Q65K	probably damaging	Het
Ciz1	T	C	2: 32,262,300 (GRCm39)		probably benign	Het
Clasrp	T	C	7: 19,324,173 (GRCm39)	D234G	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddr2	A	G	1: 169,832,340 (GRCm39)	V150A	probably benign	Het
Dennd10	A	G	19: 60,819,252 (GRCm39)	E120G	probably damaging	Het
Dnah7b	T	C	1: 46,120,604 (GRCm39)	S74P	probably benign	Het
Dnttip2	C	A	3: 122,078,750 (GRCm39)	A743E	probably damaging	Het
Dysf	A	T	6: 84,044,005 (GRCm39)	Q281L	possibly damaging	Het
Ece2	A	G	16: 20,462,905 (GRCm39)	E610G	probably damaging	Het
Edem3	T	G	1: 151,679,982 (GRCm39)		probably null	Het
Ext1	G	T	15: 52,955,773 (GRCm39)	N441K	probably benign	Het
Fam118a	A	G	15: 84,942,969 (GRCm39)	R333G	probably damaging	Het
Fat4	C	T	3: 38,945,754 (GRCm39)	T1549I	probably damaging	Het
Fbxo4	A	G	15: 4,005,394 (GRCm39)	V162A	probably damaging	Het
Fgd2	A	G	17: 29,592,223 (GRCm39)	H385R	possibly damaging	Het
Garnl3	A	T	2: 32,977,100 (GRCm39)	M1K	probably null	Het
Gm37267	T	G	1: 180,338,083 (GRCm39)		noncoding transcript	Het
Gpbar1	C	T	1: 74,318,702 (GRCm39)	A315V	probably damaging	Het
Grm2	T	C	9: 106,524,844 (GRCm39)	I624V	probably benign	Het
Hmcn1	T	C	1: 150,468,836 (GRCm39)	I5042V	probably benign	Het
Hnf4g	T	C	3: 3,716,448 (GRCm39)	Y291H	possibly damaging	Het
Ighm	A	G	12: 113,385,241 (GRCm39)	S240P	unknown	Het
Igkv4-91	A	G	6: 68,745,604 (GRCm39)	I98T	probably damaging	Het
Krt72	T	C	15: 101,694,469 (GRCm39)	N142S	probably damaging	Het
Kynu	T	A	2: 43,569,830 (GRCm39)	Y371N	possibly damaging	Het
Ly9	G	T	1: 171,434,898 (GRCm39)		probably benign	Het
Man1a2	C	A	3: 100,524,372 (GRCm39)	V359F	probably damaging	Het
Mast1	T	C	8: 85,647,287 (GRCm39)	I623M	probably damaging	Het
Mb	A	G	15: 76,906,687 (GRCm39)		probably null	Het
Mcm4	A	C	16: 15,452,374 (GRCm39)	L113*	probably null	Het
Mcub	C	T	3: 129,710,685 (GRCm39)	W249*	probably null	Het
Mme	T	A	3: 63,247,453 (GRCm39)	V246E	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	A	G	11: 116,025,098 (GRCm39)	Y232H	probably damaging	Het
Myh7b	T	A	2: 155,455,420 (GRCm39)	M89K	probably benign	Het
Notch4	A	G	17: 34,796,536 (GRCm39)	S892G	possibly damaging	Het
Nt5dc3	A	G	10: 86,652,941 (GRCm39)	Y245C	probably damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Or12d12	T	A	17: 37,611,095 (GRCm39)	T73S	probably benign	Het
Or12d14-ps1	A	T	17: 37,673,337 (GRCm39)	I107L	probably benign	Het
Or14a259	A	T	7: 86,012,692 (GRCm39)	N284K	probably damaging	Het
Or5m12	T	A	2: 85,734,715 (GRCm39)	I228F	probably benign	Het
Or8b36	G	T	9: 37,937,822 (GRCm39)	C240F	probably damaging	Het
Or8k28	A	T	2: 86,286,153 (GRCm39)	I154N	possibly damaging	Het
Palld	A	T	8: 62,002,815 (GRCm39)		probably benign	Het
Pcdhga10	T	C	18: 37,881,253 (GRCm39)	V338A	probably damaging	Het
Pcdhga11	A	G	18: 37,890,459 (GRCm39)	Y489C	probably damaging	Het
Phactr4	A	T	4: 132,105,759 (GRCm39)	S102R	probably damaging	Het
Plekha5	A	G	6: 140,471,636 (GRCm39)	Y20C	probably damaging	Het
Rdh19	A	G	10: 127,696,013 (GRCm39)	D255G	probably benign	Het
Rgs3	T	C	4: 62,549,532 (GRCm39)	V438A	probably benign	Het
Rnf186	A	G	4: 138,695,254 (GRCm39)	T265A	probably benign	Het
Ror1	T	C	4: 100,283,195 (GRCm39)	F420S	probably benign	Het
Rtkn2	A	G	10: 67,841,463 (GRCm39)	K204E	probably damaging	Het
Rundc1	A	G	11: 101,324,874 (GRCm39)	T527A	probably benign	Het
Samd4	T	C	14: 47,303,920 (GRCm39)	S301P	probably damaging	Het
Scaf1	G	A	7: 44,655,303 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,217,210 (GRCm39)	V1034A	probably benign	Het
Stab2	T	C	10: 86,778,099 (GRCm39)	D743G	probably damaging	Het
Stim1	A	T	7: 102,003,779 (GRCm39)	I71F	probably damaging	Het
Stk17b	T	C	1: 53,796,693 (GRCm39)	D358G	probably benign	Het
Sun2	A	G	15: 79,611,765 (GRCm39)	Y551H	probably damaging	Het
Tas2r110	A	T	6: 132,845,091 (GRCm39)	T41S	probably benign	Het
Tead3	T	A	17: 28,552,589 (GRCm39)	E268V	probably damaging	Het
Tead3	A	G	17: 28,553,962 (GRCm39)	S131P	probably benign	Het
Tepsin	A	T	11: 119,982,351 (GRCm39)	M505K	possibly damaging	Het
Trbv28	A	G	6: 41,248,668 (GRCm39)	Y66C	possibly damaging	Het
Ttc6	A	G	12: 57,749,142 (GRCm39)	Q1358R	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Uaca	T	C	9: 60,753,283 (GRCm39)	V76A	probably damaging	Het
Vwf	A	T	6: 125,663,425 (GRCm39)	T2789S	probably benign	Het
Yipf4	T	C	17: 74,801,089 (GRCm39)	F136L	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp804b	A	T	5: 6,926,479 (GRCm39)	D51E	probably damaging	Het
Zfyve9	C	T	4: 108,538,183 (GRCm39)	G969R	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
IGL01634:Pgm2	APN	5	64,258,317 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TCTAGGTCTACTGGGACAACG -3'
(R):5'- TGAAGTCAGGCTCTGTGTAGC -3'

Sequencing Primer
(F):5'- TCTACTGGGACAACGGAGCTC -3'
(R):5'- TCTGTGTAGCCAGCAATGC -3'

Posted On

2016-03-17