Mutagenetix > Incidental Mutation

Incidental Mutation 'R4261:Pgk2'

322677

Institutional Source

Beutler Lab

Gene Symbol

Pgk2

Ensembl Gene

ENSMUSG00000031233

Gene Name

phosphoglycerate kinase 2

Synonyms

Tcp-2, Tcp-2, Pgk-2

MMRRC Submission

041074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R4261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40517909-40519500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 40518274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 385 (T385P)

Ref Sequence

ENSEMBL: ENSMUSP00000033585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033585]

AlphaFold

P09041

PDB Structure

Crystal Structure of Phosphoglycerate Kinase-2 [X-RAY DIFFRACTION]
Crystal Structure of Phosphoglycerate Kinase-2 bound to 3-phosphoglycerate [X-RAY DIFFRACTION]
Crystal structure of phosphoglycerate kinase-2 bound to atp and 3pg [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000033585
AA Change: T385P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000033585
Gene: ENSMUSG00000031233
AA Change: T385P

Domain	Start	End	E-Value	Type
Pfam:PGK	9	406	1.3e-152	PFAM

Meta Mutation Damage Score

0.5398

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

96% (53/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased male fertility associated with reduced sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,214,066 (GRCm39)	S298P	probably damaging	Het
4930407I10Rik	A	G	15: 81,947,927 (GRCm39)	D608G	possibly damaging	Het
Actr10	T	C	12: 70,999,759 (GRCm39)	V185A	probably benign	Het
Adam9	G	A	8: 25,454,923 (GRCm39)	Q733*	probably null	Het
Adamts4	C	T	1: 171,086,673 (GRCm39)	P822S	probably benign	Het
Arhgap9	G	C	10: 127,164,334 (GRCm39)	R537P	probably damaging	Het
Bsn	T	A	9: 107,987,883 (GRCm39)		probably benign	Het
Car5a	A	T	8: 122,671,488 (GRCm39)	H15Q	probably benign	Het
Disp1	A	T	1: 182,870,950 (GRCm39)	I490N	probably damaging	Het
Dlgap5	T	G	14: 47,651,245 (GRCm39)	Y96S	probably damaging	Het
Dnah10	T	A	5: 124,807,201 (GRCm39)	V162D	possibly damaging	Het
Dock7	A	T	4: 98,892,123 (GRCm39)	M821K	possibly damaging	Het
Exoc3l	T	C	8: 106,017,599 (GRCm39)	R528G	probably damaging	Het
Fam234b	G	A	6: 135,186,134 (GRCm39)	G17E	unknown	Het
Grhl2	G	A	15: 37,361,067 (GRCm39)	G617D	possibly damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,355,630 (GRCm39)		probably null	Het
Hoxd9	C	A	2: 74,526,031 (GRCm39)		probably benign	Het
Hspa9	A	G	18: 35,072,476 (GRCm39)	S550P	probably damaging	Het
Ide	A	C	19: 37,306,585 (GRCm39)	S63A	unknown	Het
Kat6b	T	A	14: 21,719,737 (GRCm39)	I1363N	probably damaging	Het
Ltbp1	T	A	17: 75,598,362 (GRCm39)	C614*	probably null	Het
Mphosph8	A	G	14: 56,911,922 (GRCm39)	D315G	probably benign	Het
Mthfr-ps1	A	C	5: 78,622,330 (GRCm39)		noncoding transcript	Het
Mug1	A	G	6: 121,850,693 (GRCm39)	T730A	probably benign	Het
Myef2	T	C	2: 124,957,399 (GRCm39)	T119A	possibly damaging	Het
Pald1	A	G	10: 61,179,471 (GRCm39)	L466P	probably damaging	Het
Pcdh15	G	A	10: 74,481,512 (GRCm39)	V286M	probably damaging	Het
Pcdhgb2	A	G	18: 37,824,950 (GRCm39)	D647G	probably damaging	Het
Pdgfrb	A	C	18: 61,210,703 (GRCm39)	T737P	probably benign	Het
Pkp4	A	G	2: 59,135,506 (GRCm39)	Y126C	probably damaging	Het
Plppr1	A	G	4: 49,300,993 (GRCm39)	I109V	probably benign	Het
Ppcs	A	G	4: 119,279,106 (GRCm39)	F149L	probably damaging	Het
Ppp2r5d	G	A	17: 46,998,007 (GRCm39)	Q219*	probably null	Het
Raf1	C	T	6: 115,600,015 (GRCm39)		probably null	Het
Rfx7	C	T	9: 72,523,925 (GRCm39)	R372W	probably damaging	Het
Robo4	C	A	9: 37,316,877 (GRCm39)	S397R	probably benign	Het
Sat1	T	C	X: 153,998,182 (GRCm39)		probably benign	Het
Serpina1c	T	C	12: 103,863,339 (GRCm39)	K287R	probably benign	Het
Sgsm2	T	A	11: 74,782,854 (GRCm39)	H34L	probably damaging	Het
Slc38a4	A	G	15: 96,896,374 (GRCm39)	Y498H	probably damaging	Het
Ttn	T	A	2: 76,628,384 (GRCm39)	Y14592F	probably damaging	Het
Ube3b	T	C	5: 114,536,489 (GRCm39)	F245S	possibly damaging	Het
Ugt3a1	G	A	15: 9,335,879 (GRCm39)		probably null	Het
Wdr91	T	A	6: 34,881,457 (GRCm39)	S297C	possibly damaging	Het
Zcwpw2	T	C	9: 117,827,982 (GRCm39)		noncoding transcript	Het

Other mutations in Pgk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0195:Pgk2	UTSW	17	40,518,622 (GRCm39)	missense	probably benign	0.01
R1297:Pgk2	UTSW	17	40,519,255 (GRCm39)	missense	probably benign	0.04
R1351:Pgk2	UTSW	17	40,518,691 (GRCm39)	missense	probably damaging	1.00
R1781:Pgk2	UTSW	17	40,519,398 (GRCm39)	missense	probably benign	0.20
R2126:Pgk2	UTSW	17	40,518,400 (GRCm39)	missense	probably damaging	1.00
R3153:Pgk2	UTSW	17	40,519,134 (GRCm39)	missense	probably damaging	0.99
R3154:Pgk2	UTSW	17	40,519,134 (GRCm39)	missense	probably damaging	0.99
R4152:Pgk2	UTSW	17	40,519,149 (GRCm39)	missense	probably damaging	1.00
R4153:Pgk2	UTSW	17	40,519,149 (GRCm39)	missense	probably damaging	1.00
R4154:Pgk2	UTSW	17	40,519,149 (GRCm39)	missense	probably damaging	1.00
R4259:Pgk2	UTSW	17	40,518,274 (GRCm39)	missense	probably benign	0.01
R4812:Pgk2	UTSW	17	40,518,281 (GRCm39)	missense	possibly damaging	0.56
R4961:Pgk2	UTSW	17	40,518,412 (GRCm39)	missense	probably damaging	1.00
R4989:Pgk2	UTSW	17	40,518,402 (GRCm39)	missense	probably damaging	1.00
R5661:Pgk2	UTSW	17	40,518,287 (GRCm39)	nonsense	probably null
R6246:Pgk2	UTSW	17	40,518,315 (GRCm39)	missense	probably damaging	1.00
R6415:Pgk2	UTSW	17	40,518,459 (GRCm39)	missense	probably benign	0.00
R7054:Pgk2	UTSW	17	40,519,366 (GRCm39)	missense	probably benign	0.08
R7721:Pgk2	UTSW	17	40,518,409 (GRCm39)	missense	probably benign	0.12
R8785:Pgk2	UTSW	17	40,518,777 (GRCm39)	missense	probably damaging	1.00
R9014:Pgk2	UTSW	17	40,518,687 (GRCm39)	missense	probably benign
R9057:Pgk2	UTSW	17	40,518,735 (GRCm39)	missense	possibly damaging	0.93
R9253:Pgk2	UTSW	17	40,519,233 (GRCm39)	missense	probably damaging	1.00
R9330:Pgk2	UTSW	17	40,519,078 (GRCm39)	missense	probably benign	0.31
R9654:Pgk2	UTSW	17	40,518,651 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTAGCTCATTACCTGGGTCTTG -3'
(R):5'- GCTCAAATTGTGGCCCAAGC -3'

Sequencing Primer
(F):5'- ACCTGGGTCTTGATTCATAGTAGAG -3'
(R):5'- CCCAAGCAAAGCTGATAGTTTG -3'

Posted On

2015-06-20