Mutagenetix > Incidental Mutation

Incidental Mutation 'R8301:Pkm'

639267

Institutional Source

Beutler Lab

Gene Symbol

Pkm

Ensembl Gene

ENSMUSG00000032294

Gene Name

pyruvate kinase, muscle

Synonyms

Pk-3, Pk3, Pk-2, Pkm2

MMRRC Submission

067789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59563859-59586655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59575914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 110 (V110E)

Ref Sequence

ENSEMBL: ENSMUSP00000034834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034834] [ENSMUST00000163694]

AlphaFold

P52480

Predicted Effect

probably damaging
Transcript: ENSMUST00000034834
AA Change: V110E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: V110E

Domain	Start	End	E-Value	Type
Pfam:PK	42	395	1.3e-172	PFAM
Pfam:PK_C	409	529	3.1e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163694
AA Change: V110E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: V110E

Domain	Start	End	E-Value	Type
Pfam:PK	42	395	2.6e-174	PFAM
Pfam:PK_C	410	528	1.9e-36	PFAM

Meta Mutation Damage Score

0.9414

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit prenatal lethality around the time of implanatation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,120,364 (GRCm39)	I374F	probably benign	Het
Ak9	G	A	10: 41,300,712 (GRCm39)	V1108I		Het
Aldh16a1	C	T	7: 44,791,406 (GRCm39)	A790T	possibly damaging	Het
Anks1	A	T	17: 28,278,554 (GRCm39)		probably benign	Het
Antxr2	T	G	5: 98,125,538 (GRCm39)	T240P	probably benign	Het
Arfgef1	A	T	1: 10,250,058 (GRCm39)	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,528,866 (GRCm39)	T1591A	probably benign	Het
Aurka	A	G	2: 172,198,850 (GRCm39)	S374P	probably damaging	Het
Bccip	T	C	7: 133,320,933 (GRCm39)	S236P	probably benign	Het
Cacna1s	T	A	1: 136,001,179 (GRCm39)		probably benign	Het
Calm1	A	G	12: 100,171,944 (GRCm39)	E132G	probably benign	Het
Casz1	A	G	4: 149,030,500 (GRCm39)	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659 (GRCm39)	D413G	probably damaging	Het
Cfap57	A	G	4: 118,450,271 (GRCm39)	I617T	possibly damaging	Het
Creb5	A	G	6: 53,658,018 (GRCm39)	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,299,354 (GRCm39)	S337A	unknown	Het
Ddx60	A	G	8: 62,453,631 (GRCm39)	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,873,577 (GRCm39)	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,396,407 (GRCm39)		probably benign	Het
Ebf2	A	G	14: 67,476,431 (GRCm39)	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,030,106 (GRCm39)	M136L	probably benign	Het
Enpp2	A	G	15: 54,714,803 (GRCm39)	F598S	probably benign	Het
Extl3	A	C	14: 65,313,733 (GRCm39)	L483R	probably damaging	Het
Gcat	T	C	15: 78,920,089 (GRCm39)	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,381,442 (GRCm39)	D344G	probably damaging	Het
Ighm	C	T	12: 113,385,165 (GRCm39)	G265D		Het
Igsf9b	T	G	9: 27,246,035 (GRCm39)		probably benign	Het
Ints6	A	G	14: 62,939,902 (GRCm39)	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120 (GRCm39)	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,818,659 (GRCm39)		probably null	Het
Kalrn	G	T	16: 34,177,470 (GRCm39)	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,451,770 (GRCm39)	N46Y	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa50	A	G	16: 43,977,494 (GRCm39)	N74S	probably benign	Het
Neb	T	C	2: 52,178,847 (GRCm39)	N1303S	probably benign	Het
Nfs1	A	T	2: 155,976,413 (GRCm39)	C160*	probably null	Het
Or11g7	T	A	14: 50,691,021 (GRCm39)	S171T	probably benign	Het
Or52s1b	T	G	7: 102,822,280 (GRCm39)	K188T	probably damaging	Het
Or5p52	A	G	7: 107,502,833 (GRCm39)	K303R	probably benign	Het
Or6c76	T	C	10: 129,612,709 (GRCm39)	S309P	probably benign	Het
Orm2	T	C	4: 63,281,263 (GRCm39)	F67S	possibly damaging	Het
Pex5	A	G	6: 124,382,142 (GRCm39)	S180P	probably benign	Het
Phf14	G	C	6: 11,992,061 (GRCm39)	G746R	probably damaging	Het
Plekha6	T	G	1: 133,192,425 (GRCm39)	N78K	probably damaging	Het
Plxna2	G	A	1: 194,472,483 (GRCm39)	V1076I	probably benign	Het
Polq	C	A	16: 36,882,181 (GRCm39)	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,994,895 (GRCm39)	T256A	probably benign	Het
Prkch	C	T	12: 73,749,538 (GRCm39)	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,383,168 (GRCm39)		probably benign	Het
Prl7b1	A	C	13: 27,786,755 (GRCm39)	V158G	possibly damaging	Het
Prss22	T	C	17: 24,212,955 (GRCm39)	S261G	probably damaging	Het
Psd	T	C	19: 46,309,541 (GRCm39)		probably benign	Het
Psg18	A	T	7: 18,087,302 (GRCm39)	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,729,993 (GRCm39)	R218S	probably damaging	Het
Rnf213	T	A	11: 119,325,568 (GRCm39)	S1491T		Het
Rsf1	T	C	7: 97,311,132 (GRCm39)	S621P		Het
Runx1	C	A	16: 92,402,544 (GRCm39)	*466L	probably null	Het
Samd4	A	G	14: 47,254,135 (GRCm39)	I200V	probably benign	Het
Sdsl	C	T	5: 120,597,584 (GRCm39)	C241Y	probably benign	Het
Selenon	T	C	4: 134,278,725 (GRCm39)		probably benign	Het
Setx	C	T	2: 29,035,702 (GRCm39)	P729L	possibly damaging	Het
Sf1	C	T	19: 6,418,396 (GRCm39)	Q55*	probably null	Het
Slc12a5	A	T	2: 164,835,611 (GRCm39)	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,282,286 (GRCm39)	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,220,996 (GRCm39)	A324S	probably benign	Het
Tmem217	A	G	17: 29,745,466 (GRCm39)	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,779,115 (GRCm39)	I61N	probably benign	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trhde	T	A	10: 114,322,911 (GRCm39)	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568 (GRCm39)	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,507,510 (GRCm39)	C601S	probably benign	Het
Zfp873	C	A	10: 81,896,713 (GRCm39)	H481Q	probably damaging	Het

Other mutations in Pkm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01693:Pkm	APN	9	59,577,805 (GRCm39)	missense	probably damaging	1.00
IGL02014:Pkm	APN	9	59,576,244 (GRCm39)	missense	possibly damaging	0.59
IGL02054:Pkm	APN	9	59,585,484 (GRCm39)	missense	probably damaging	1.00
negligible	UTSW	9	59,577,917 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Pkm	UTSW	9	59,575,914 (GRCm39)	missense	probably damaging	0.99
R0087:Pkm	UTSW	9	59,585,382 (GRCm39)	nonsense	probably null
R0603:Pkm	UTSW	9	59,573,164 (GRCm39)	missense	probably damaging	0.97
R0940:Pkm	UTSW	9	59,575,818 (GRCm39)	splice site	probably benign
R0990:Pkm	UTSW	9	59,585,379 (GRCm39)	missense	probably damaging	1.00
R1446:Pkm	UTSW	9	59,576,193 (GRCm39)	splice site	probably null
R5104:Pkm	UTSW	9	59,575,964 (GRCm39)	critical splice donor site	probably null
R5369:Pkm	UTSW	9	59,577,917 (GRCm39)	missense	probably damaging	1.00
R6831:Pkm	UTSW	9	59,582,398 (GRCm39)	missense	probably benign
R6974:Pkm	UTSW	9	59,575,853 (GRCm39)	missense	probably damaging	0.99
R7169:Pkm	UTSW	9	59,578,908 (GRCm39)	missense	possibly damaging	0.95
R7288:Pkm	UTSW	9	59,576,196 (GRCm39)	missense	probably benign	0.00
R7621:Pkm	UTSW	9	59,585,441 (GRCm39)	nonsense	probably null
R7844:Pkm	UTSW	9	59,578,005 (GRCm39)	missense	probably benign	0.00
R8217:Pkm	UTSW	9	59,586,092 (GRCm39)	missense	possibly damaging	0.74
R8234:Pkm	UTSW	9	59,577,882 (GRCm39)	missense	possibly damaging	0.87
R8313:Pkm	UTSW	9	59,575,902 (GRCm39)	missense	probably benign	0.04
R8977:Pkm	UTSW	9	59,578,923 (GRCm39)	missense	probably damaging	1.00
R9001:Pkm	UTSW	9	59,572,626 (GRCm39)	missense	probably benign	0.19
R9042:Pkm	UTSW	9	59,579,220 (GRCm39)	missense	probably damaging	1.00
R9603:Pkm	UTSW	9	59,577,831 (GRCm39)	missense	probably damaging	0.97
Z1190:Pkm	UTSW	9	59,585,353 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TGGTGGCAGTATTCTGGAAC -3'
(R):5'- CGCTCAACTCTGGCTCAAAG -3'

Sequencing Primer
(F):5'- GCAGTATTCTGGAACTGTATGAGAG -3'
(R):5'- ACTCTGGCTCAAAGTCCAAAG -3'

Posted On

2020-07-28