Mutagenetix > Incidental Mutations

Incidental Mutation 'R8301:Pkm'

639267

Institutional Source

Beutler Lab

Gene Symbol

Pkm

Ensembl Gene

ENSMUSG00000032294

Gene Name

pyruvate kinase, muscle

Synonyms

Pkm2, Pk-3, Pk-2, Pk3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59656368-59679375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59668631 bp (GRCm38)

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: 87,972,505	I374F	probably benign	Het
9430076C15Rik	A	G	6: 53,681,033	D116G	possibly damaging	Het
Ak9	G	A	10: 41,424,716	V1108I		Het
Aldh16a1	C	T	7: 45,141,982	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580		probably benign	Het
Antxr2	T	G	5: 97,977,679	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441		probably benign	Het
Calm1	A	G	12: 100,205,685	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074	I617T	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111		probably benign	Het
Ebf2	A	G	14: 67,238,982	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,172,909	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545	G265D		Het
Igsf9b	T	G	9: 27,334,739		probably benign	Het
Ints6	A	G	14: 62,702,453	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151		probably null	Het
Kalrn	G	T	16: 34,357,100	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131	N74S	probably benign	Het
Neb	T	C	2: 52,288,835	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062	G746R	probably damaging	Het
Plekha6	T	G	1: 133,264,687	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185		probably benign	Het
Prl7b1	A	C	13: 27,602,772	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102		probably benign	Het
Psg18	A	T	7: 18,353,377	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742	S1491T		Het
Rsf1	T	C	7: 97,661,925	S621P		Het
Runx1	C	A	16: 92,605,656	*466L	probably null	Het
Samd4	A	G	14: 47,016,678	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519	C241Y	probably benign	Het
Sepn1	T	C	4: 134,551,414		probably benign	Het
Setx	C	T	2: 29,145,690	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879	H481Q	probably damaging	Het

Other mutations in Pkm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01693:Pkm	APN	9	59670522	missense	probably damaging	1.00
IGL02014:Pkm	APN	9	59668961	missense	possibly damaging	0.59
IGL02054:Pkm	APN	9	59678201	missense	probably damaging	1.00
negligible	UTSW	9	59670634	missense	probably damaging	1.00
G1Funyon:Pkm	UTSW	9	59668631	missense	probably damaging	0.99
R0087:Pkm	UTSW	9	59678099	nonsense	probably null
R0603:Pkm	UTSW	9	59665881	missense	probably damaging	0.97
R0940:Pkm	UTSW	9	59668535	splice site	probably benign
R0990:Pkm	UTSW	9	59678096	missense	probably damaging	1.00
R1446:Pkm	UTSW	9	59668910	splice site	probably null
R5104:Pkm	UTSW	9	59668681	critical splice donor site	probably null
R5369:Pkm	UTSW	9	59670634	missense	probably damaging	1.00
R6831:Pkm	UTSW	9	59675115	missense	probably benign
R6974:Pkm	UTSW	9	59668570	missense	probably damaging	0.99
R7169:Pkm	UTSW	9	59671625	missense	possibly damaging	0.95
R7288:Pkm	UTSW	9	59668913	missense	probably benign	0.00
R7621:Pkm	UTSW	9	59678158	nonsense	probably null
R7844:Pkm	UTSW	9	59670722	missense	probably benign	0.00
R8217:Pkm	UTSW	9	59678809	missense	possibly damaging	0.74
R8234:Pkm	UTSW	9	59670599	missense	possibly damaging	0.87
R8313:Pkm	UTSW	9	59668619	missense	probably benign	0.04
R8977:Pkm	UTSW	9	59671640	missense	probably damaging	1.00
R9001:Pkm	UTSW	9	59665343	missense	probably benign	0.19
R9042:Pkm	UTSW	9	59671937	missense	probably damaging	1.00
Z1190:Pkm	UTSW	9	59678070	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