Mutagenetix > Incidental Mutation

Incidental Mutation 'R8977:Pkm'

683507

Institutional Source

Beutler Lab

Gene Symbol

Pkm

Ensembl Gene

ENSMUSG00000032294

Gene Name

pyruvate kinase, muscle

Synonyms

Pk-3, Pk3, Pk-2, Pkm2

MMRRC Submission

068715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59563859-59586655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59578923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 301 (I301N)

Ref Sequence

ENSEMBL: ENSMUSP00000034834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034834] [ENSMUST00000163694] [ENSMUST00000213930] [ENSMUST00000215623] [ENSMUST00000215660] [ENSMUST00000216857] [ENSMUST00000217038] [ENSMUST00000217353]

AlphaFold

P52480

Predicted Effect

probably damaging
Transcript: ENSMUST00000034834
AA Change: I301N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294
AA Change: I301N

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: I301N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: I301N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213930

Predicted Effect

probably benign
Transcript: ENSMUST00000215623

Predicted Effect

probably benign
Transcript: ENSMUST00000215660

Predicted Effect

probably benign
Transcript: ENSMUST00000216857

Predicted Effect

probably benign
Transcript: ENSMUST00000217038

Predicted Effect

probably benign
Transcript: ENSMUST00000217353

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,184,710 (GRCm39)	E476G	unknown	Het
Aars1	G	A	8: 111,766,849 (GRCm39)	R77Q	probably damaging	Het
Abcc10	C	A	17: 46,624,593 (GRCm39)	V795L	probably benign	Het
Adam30	A	G	3: 98,069,378 (GRCm39)	K276E	probably damaging	Het
Adam6b	A	T	12: 113,453,996 (GRCm39)	N271I	probably benign	Het
Adgrl2	T	C	3: 148,660,223 (GRCm39)	I17V	probably null	Het
Anapc1	C	A	2: 128,483,322 (GRCm39)	G1258C	probably damaging	Het
Ank2	G	T	3: 126,738,575 (GRCm39)	H2436Q	unknown	Het
Ankrd13a	A	T	5: 114,933,806 (GRCm39)	K267*	probably null	Het
Apob	T	C	12: 8,065,990 (GRCm39)	Y4320H	probably damaging	Het
Atp2b2	T	C	6: 113,750,325 (GRCm39)	D678G	probably damaging	Het
Bhlhe41	C	A	6: 145,809,096 (GRCm39)	V239F	possibly damaging	Het
Cbfa2t2	T	G	2: 154,342,410 (GRCm39)	L42R	probably benign	Het
Ccer2	G	A	7: 28,456,113 (GRCm39)	V52M	probably damaging	Het
Ccnj	T	C	19: 40,833,383 (GRCm39)	F187S	probably damaging	Het
Cd109	G	A	9: 78,614,810 (GRCm39)	V1286I	probably benign	Het
Cfap210	T	C	2: 69,617,643 (GRCm39)	H46R	possibly damaging	Het
Cfap46	G	T	7: 139,259,849 (GRCm39)	T148N	probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Cuzd1	A	G	7: 130,923,754 (GRCm39)	F8S	probably benign	Het
Dnmbp	A	T	19: 43,840,751 (GRCm39)	D549E	probably damaging	Het
Dpp4	A	G	2: 62,204,747 (GRCm39)	L240P	probably benign	Het
Dst	A	T	1: 34,286,864 (GRCm39)	R3398S	probably damaging	Het
Eml6	A	G	11: 29,734,182 (GRCm39)	I1186T	possibly damaging	Het
Extl1	T	C	4: 134,086,435 (GRCm39)	E540G	possibly damaging	Het
Gdpd5	A	G	7: 99,103,057 (GRCm39)	I339V	probably benign	Het
Ggcx	T	C	6: 72,406,265 (GRCm39)		probably null	Het
Gm9195	A	G	14: 72,691,338 (GRCm39)	F1637L	unknown	Het
Igkv5-48	G	C	6: 69,703,616 (GRCm39)	N96K	possibly damaging	Het
Itga11	T	C	9: 62,662,922 (GRCm39)	I546T	probably damaging	Het
Map3k5	T	A	10: 19,955,000 (GRCm39)	F624L	possibly damaging	Het
Map7	T	A	10: 20,145,336 (GRCm39)		probably null	Het
Mdga2	A	T	12: 66,844,409 (GRCm39)	D196E	possibly damaging	Het
Mettl2	T	C	11: 105,019,791 (GRCm39)	C143R	probably benign	Het
Mmut	G	T	17: 41,249,481 (GRCm39)	R152L	probably benign	Het
Ncam1	G	T	9: 49,418,825 (GRCm39)	T825K	probably damaging	Het
Nucb2	C	A	7: 116,128,063 (GRCm39)	N257K	probably benign	Het
Or1e19	A	G	11: 73,316,651 (GRCm39)	S53P	probably benign	Het
Or1p1c	A	T	11: 74,160,304 (GRCm39)	I30F	probably benign	Het
Or2b7	T	A	13: 21,740,016 (GRCm39)	M59L	possibly damaging	Het
Or51i1	A	T	7: 103,670,762 (GRCm39)	Y254*	probably null	Het
Or52n1	A	T	7: 104,383,248 (GRCm39)	F108I	probably damaging	Het
Or8k38	C	T	2: 86,488,472 (GRCm39)	C110Y	probably benign	Het
Pamr1	T	A	2: 102,441,963 (GRCm39)	V184D	probably damaging	Het
Paqr9	A	T	9: 95,442,888 (GRCm39)	I293F	possibly damaging	Het
Pi15	G	T	1: 17,690,126 (GRCm39)		probably null	Het
Pramel1	T	A	4: 143,123,961 (GRCm39)	I212N	probably benign	Het
Prdm6	A	T	18: 53,701,373 (GRCm39)	I549F	probably damaging	Het
Prpf8	A	G	11: 75,386,870 (GRCm39)	E1105G	probably benign	Het
Rad51b	T	A	12: 79,704,662 (GRCm39)	V274E	probably damaging	Het
Rd3l	T	A	12: 111,946,593 (GRCm39)	Y61F	probably damaging	Het
Resf1	T	A	6: 149,229,906 (GRCm39)	I984N	probably damaging	Het
Rgs11	T	C	17: 26,427,233 (GRCm39)	V388A	probably damaging	Het
Rictor	A	G	15: 6,812,566 (GRCm39)	I901V	probably benign	Het
Riox2	A	G	16: 59,312,195 (GRCm39)	D444G	probably benign	Het
Scn2a	T	A	2: 65,594,014 (GRCm39)	V1621E	probably damaging	Het
Sec11c	A	G	18: 65,945,818 (GRCm39)	I94V	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc34a1	T	C	13: 55,556,815 (GRCm39)	I337T	probably benign	Het
Slc6a19	T	C	13: 73,830,269 (GRCm39)	K516E	probably benign	Het
Slco1b2	A	T	6: 141,628,980 (GRCm39)	M596L	probably benign	Het
Smarce1	A	G	11: 99,110,511 (GRCm39)	I100T	possibly damaging	Het
Stk32c	A	T	7: 138,705,161 (GRCm39)	M119K	possibly damaging	Het
Tekt2	T	C	4: 126,217,266 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,461,177 (GRCm39)	N908Y	probably damaging	Het
Tex38	A	G	4: 115,637,792 (GRCm39)	S4P	probably benign	Het
Top2b	T	A	14: 16,393,239 (GRCm38)	H299Q	probably benign	Het
Trim55	C	A	3: 19,713,341 (GRCm39)	R131S	probably benign	Het
Vmn2r109	A	T	17: 20,774,531 (GRCm39)	Y275N	possibly damaging	Het
Vmn2r116	C	T	17: 23,605,916 (GRCm39)	T276I	possibly 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
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
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'- AGCCAGTAAAATTGTTGTGCTG -3'
(R):5'- AGGTGCACAGATCACAGCTATG -3'

Sequencing Primer
(F):5'- ATCATACTGTGCTGTGGATGCCC -3'
(R):5'- CAGCTATGTGTGCCCAAAGGAC -3'

Posted On

2021-10-11