Mutagenetix > Incidental Mutation

Incidental Mutation 'R8313:Pkm'

641507

Institutional Source

Beutler Lab

Gene Symbol

Pkm

Ensembl Gene

ENSMUSG00000032294

Gene Name

pyruvate kinase, muscle

Synonyms

Pk-3, Pk3, Pk-2, Pkm2

MMRRC Submission

067797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59563859-59586655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59575902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 106 (R106L)

Ref Sequence

ENSEMBL: ENSMUSP00000034834 (fasta)

Gene Model

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

AlphaFold

P52480

Predicted Effect

probably benign
Transcript: ENSMUST00000034834
AA Change: R106L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: R106L

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: R106L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: R106L

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Atl2	C	T	17: 80,160,033 (GRCm39)	W518*	probably null	Het
Atp13a2	G	A	4: 140,730,046 (GRCm39)	V646I	probably benign	Het
Bcar1	A	T	8: 112,440,270 (GRCm39)	F575I	probably benign	Het
Bpifa6	T	A	2: 153,831,178 (GRCm39)	L248*	probably null	Het
Ccdc38	T	C	10: 93,399,111 (GRCm39)	L193P	probably damaging	Het
Ch25h	A	C	19: 34,452,138 (GRCm39)	I130S	probably benign	Het
Chaf1a	C	A	17: 56,351,109 (GRCm39)	Q30K	unknown	Het
Dab2ip	T	C	2: 35,617,440 (GRCm39)	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,550,375 (GRCm39)	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,214,456 (GRCm39)	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,860,691 (GRCm39)	Q200R	probably benign	Het
Eif1ad3	A	T	12: 87,843,764 (GRCm39)	D137V	unknown	Het
Epx	C	T	11: 87,763,557 (GRCm39)	R221Q	possibly damaging	Het
Exosc7	T	C	9: 122,956,942 (GRCm39)	L109P	probably damaging	Het
Fbxo22	T	A	9: 55,128,344 (GRCm39)	F222I	probably damaging	Het
Fcgbp	A	G	7: 27,785,769 (GRCm39)	D402G	probably benign	Het
Foxr1	A	G	9: 44,347,351 (GRCm39)	V62A	probably damaging	Het
Gm8267	A	T	14: 44,961,515 (GRCm39)	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,275,071 (GRCm39)	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,568,161 (GRCm39)	F76S	probably damaging	Het
Gpr33	A	G	12: 52,070,907 (GRCm39)	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599 (GRCm39)	T1012I	probably benign	Het
Itga1	T	A	13: 115,103,120 (GRCm39)	T1104S	probably benign	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Lama1	A	G	17: 68,057,515 (GRCm39)	T530A		Het
Lysmd2	A	T	9: 75,533,040 (GRCm39)		probably benign	Het
Mdk	T	C	2: 91,761,178 (GRCm39)	K128E	unknown	Het
Mphosph8	AC	A	14: 56,916,062 (GRCm39)		probably null	Het
Muc16	A	C	9: 18,436,443 (GRCm39)	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423 (GRCm38)	T1100S	probably benign	Het
Mxra7	T	C	11: 116,695,376 (GRCm39)	Y176C	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Myo18b	A	G	5: 113,023,045 (GRCm39)	S116P	unknown	Het
Noc3l	A	G	19: 38,784,254 (GRCm39)	L543P	probably damaging	Het
Or5h24	C	T	16: 58,919,004 (GRCm39)	G117D	unknown	Het
Or7a39	C	T	10: 78,715,170 (GRCm39)	P55S	probably benign	Het
Or8c10	T	A	9: 38,279,346 (GRCm39)	V168E	probably damaging	Het
Prkab2	G	T	3: 97,570,911 (GRCm39)	V112F	probably benign	Het
Prkaca	A	T	8: 84,717,151 (GRCm39)	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,666,813 (GRCm39)	V387A	probably benign	Het
Rad17	T	C	13: 100,761,074 (GRCm39)	T485A	probably benign	Het
Rita1	G	T	5: 120,747,716 (GRCm39)	T194K	possibly damaging	Het
Rogdi	C	A	16: 4,831,313 (GRCm39)		probably benign	Het
Senp5	T	C	16: 31,808,117 (GRCm39)	D379G	probably benign	Het
Slc4a4	A	G	5: 89,194,122 (GRCm39)	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,619,520 (GRCm39)		probably benign	Het
Tmem175	T	A	5: 108,791,075 (GRCm39)	S208R	probably benign	Het
Tmem237	A	T	1: 59,147,237 (GRCm39)	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 122,769,936 (GRCm39)	N575K	possibly damaging	Het
Trak2	A	T	1: 58,960,306 (GRCm39)	C232*	probably null	Het
Ubr3	A	G	2: 69,775,478 (GRCm39)	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn1r231	C	T	17: 21,110,289 (GRCm39)	V209I	probably benign	Het
Vmn1r80	T	C	7: 11,926,994 (GRCm39)	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,521,952 (GRCm39)	I48N	probably benign	Het
Vstm2a	T	A	11: 16,231,898 (GRCm39)	V231E	probably damaging	Het
Zfp108	A	C	7: 23,960,087 (GRCm39)	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,682,695 (GRCm39)	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,061,422 (GRCm39)	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,804,762 (GRCm39)	H464Y	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
R8234:Pkm	UTSW	9	59,577,882 (GRCm39)	missense	possibly damaging	0.87
R8301:Pkm	UTSW	9	59,575,914 (GRCm39)	missense	probably damaging	0.99
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