Mutagenetix > Incidental Mutation

Incidental Mutation 'R8234:Pkm'

637272

Institutional Source

Beutler Lab

Gene Symbol

Pkm

Ensembl Gene

ENSMUSG00000032294

Gene Name

pyruvate kinase, muscle

Synonyms

Pk-3, Pk3, Pk-2, Pkm2

MMRRC Submission

067666-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59563859-59586655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59577882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 233 (V233A)

Ref Sequence

ENSEMBL: ENSMUSP00000034834 (fasta)

Gene Model

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

AlphaFold

P52480

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034834
AA Change: V233A

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: V233A

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 benign
Transcript: ENSMUST00000163694
AA Change: V233A

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: V233A

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	A	14: 54,499,133 (GRCm39)	M38K	probably benign	Het
Ackr1	T	A	1: 173,159,582 (GRCm39)	R312S	probably benign	Het
Akap9	T	C	5: 4,094,845 (GRCm39)	V2213A	probably benign	Het
Alox5	T	A	6: 116,390,835 (GRCm39)	R439W	probably damaging	Het
Atrn	A	T	2: 130,864,920 (GRCm39)		probably null	Het
Casd1	A	G	6: 4,601,209 (GRCm39)	N14S	probably damaging	Het
Cry2	T	C	2: 92,242,974 (GRCm39)	S542G	probably benign	Het
Cyb5rl	A	G	4: 106,925,935 (GRCm39)	Y39C	probably damaging	Het
Dmpk	A	T	7: 18,822,048 (GRCm39)	K335N	probably benign	Het
Dnai1	A	G	4: 41,625,221 (GRCm39)	D395G	probably benign	Het
Dock4	C	T	12: 40,884,837 (GRCm39)		probably null	Het
Eif1ad5	A	T	12: 87,940,508 (GRCm39)	I71L	noncoding transcript	Het
Fmo4	T	C	1: 162,632,757 (GRCm39)	D198G	probably damaging	Het
Foxc2	G	A	8: 121,844,777 (GRCm39)	R475Q	probably damaging	Het
Gipr	C	A	7: 18,898,533 (GRCm39)	G37V	unknown	Het
Gpat3	T	C	5: 101,005,076 (GRCm39)		probably null	Het
Hcn4	A	G	9: 58,751,433 (GRCm39)	D353G	unknown	Het
Hectd4	T	A	5: 121,477,607 (GRCm39)	N2843K	possibly damaging	Het
Hmcn1	C	T	1: 150,469,761 (GRCm39)	V4973M	possibly damaging	Het
Il20rb	C	T	9: 100,341,263 (GRCm39)	S281N	probably benign	Het
Kcnh4	A	T	11: 100,643,093 (GRCm39)	N391K	possibly damaging	Het
Kitl	A	G	10: 99,887,708 (GRCm39)	T6A	probably damaging	Het
Krt36	A	G	11: 99,995,027 (GRCm39)	Y182H	probably damaging	Het
Lrp1b	T	G	2: 41,202,668 (GRCm39)	I1262L		Het
Mtf1	A	G	4: 124,738,039 (GRCm39)	E644G	probably benign	Het
Mtx2	A	G	2: 74,699,706 (GRCm39)	Y159C	probably damaging	Het
Nags	C	T	11: 102,039,824 (GRCm39)	S504F	probably damaging	Het
Ncam1	A	T	9: 49,456,523 (GRCm39)	F475L	probably damaging	Het
Nipal2	G	T	15: 34,600,178 (GRCm39)	T213N	possibly damaging	Het
Or52m1	T	A	7: 102,289,678 (GRCm39)	L75Q	probably damaging	Het
Or8h8	A	G	2: 86,753,313 (GRCm39)	S188P	probably damaging	Het
Pros1	T	A	16: 62,748,540 (GRCm39)	I671N	possibly damaging	Het
Rasd1	T	C	11: 59,855,118 (GRCm39)	I121V	probably damaging	Het
Relch	T	C	1: 105,681,235 (GRCm39)	S1180P	possibly damaging	Het
Samhd1	A	G	2: 156,958,270 (GRCm39)		probably null	Het
Serpinb9f	A	T	13: 33,509,898 (GRCm39)	Y30F	probably benign	Het
Slc5a10	T	C	11: 61,564,107 (GRCm39)	I543V	probably benign	Het
Stat5a	A	G	11: 100,770,129 (GRCm39)	I469V	possibly damaging	Het
Sugct	T	C	13: 17,032,459 (GRCm39)	E431G	probably benign	Het
Tecr	C	A	8: 84,299,880 (GRCm39)	R133L	possibly damaging	Het
Tiparp	A	G	3: 65,439,002 (GRCm39)	N106S	probably benign	Het
Triml1	T	C	8: 43,594,285 (GRCm39)	S49G	probably benign	Het
Trpm3	T	A	19: 22,692,640 (GRCm39)	S244T	possibly damaging	Het
Ttn	T	C	2: 76,553,324 (GRCm39)	D31055G	probably damaging	Het
Vcp	A	T	4: 42,985,242 (GRCm39)	I369N	probably damaging	Het
Vmn2r110	A	C	17: 20,804,691 (GRCm39)	N76K	probably benign	Het
Vmn2r12	T	C	5: 109,234,074 (GRCm39)	T713A	probably benign	Het
Vmn2r17	A	T	5: 109,601,235 (GRCm39)	K844N	probably benign	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
R8301:Pkm	UTSW	9	59,575,914 (GRCm39)	missense	probably damaging	0.99
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'- CCCTCTGCTTCTTGTAAATTGAGG -3'
(R):5'- TTGCTGAGCAGGTATCCAGG -3'

Sequencing Primer
(F):5'- AAATTGAGGTGGTCTTCTGTGATCCC -3'
(R):5'- GGTATCCAGGACACACCATGG -3'

Posted On

2020-07-13