Mutagenetix > Incidental Mutation

Incidental Mutation 'R6831:Pkm'

537855

Institutional Source

Beutler Lab

Gene Symbol

Pkm

Ensembl Gene

ENSMUSG00000032294

Gene Name

pyruvate kinase, muscle

Synonyms

Pk-3, Pk3, Pk-2, Pkm2

MMRRC Submission

044941-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6831 (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 C at 59582398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 409 (M409I)

Ref Sequence

ENSEMBL: ENSMUSP00000128770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034834] [ENSMUST00000163694] [ENSMUST00000213930]

AlphaFold

P52480

Predicted Effect

probably benign
Transcript: ENSMUST00000034834

SMART Domains

Protein: ENSMUSP00000034834
Gene: ENSMUSG00000032294

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: M409I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128770
Gene: ENSMUSG00000032294
AA Change: M409I

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

Meta Mutation Damage Score

0.0977

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	G	10: 29,100,675 (GRCm39)	D349E	probably benign	Het
Adam28	C	T	14: 68,855,576 (GRCm39)	A630T	probably benign	Het
Akr1cl	C	T	1: 65,053,831 (GRCm39)		probably null	Het
Alcam	A	G	16: 52,130,264 (GRCm39)	Y29H	probably benign	Het
Alg3	A	T	16: 20,427,497 (GRCm39)	S25T	probably damaging	Het
Amdhd1	T	G	10: 93,363,118 (GRCm39)	L323F	probably damaging	Het
Apcdd1	C	A	18: 63,083,197 (GRCm39)	Y342*	probably null	Het
Aqp9	T	A	9: 71,069,702 (GRCm39)		probably benign	Het
Arhgef5	A	G	6: 43,257,933 (GRCm39)	T1326A	probably damaging	Het
Cacna1a	T	C	8: 85,297,860 (GRCm39)	V1238A	probably damaging	Het
Cep128	T	C	12: 91,233,748 (GRCm39)	D440G	probably damaging	Het
Dnah5	G	C	15: 28,411,661 (GRCm39)	G3677R	possibly damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
E330034G19Rik	T	C	14: 24,346,163 (GRCm39)	S25P	probably benign	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fat3	C	A	9: 16,287,847 (GRCm39)	V559L	probably damaging	Het
Fra10ac1	A	T	19: 38,195,737 (GRCm39)	I162K	probably benign	Het
Glrx3	C	T	7: 137,060,951 (GRCm39)	T195M	possibly damaging	Het
Gm9949	T	A	18: 62,313,616 (GRCm39)		probably benign	Het
Hbs1l	T	C	10: 21,217,767 (GRCm39)	S228P	probably benign	Het
Hmcn1	G	A	1: 150,646,044 (GRCm39)	T718I	probably benign	Het
Igf1r	T	C	7: 67,857,067 (GRCm39)	S1010P	possibly damaging	Het
Inpp5d	T	A	1: 87,629,198 (GRCm39)	Y394*	probably null	Het
Itpr2	G	A	6: 146,013,927 (GRCm39)	T2623M	probably damaging	Het
Kif21b	T	A	1: 136,072,496 (GRCm39)	C67*	probably null	Het
Lama1	T	A	17: 68,063,749 (GRCm39)	C758S	possibly damaging	Het
Mdga1	T	A	17: 30,106,490 (GRCm39)	K274*	probably null	Het
Neu2	G	A	1: 87,524,455 (GRCm39)	G147R	probably damaging	Het
Nkx1-1	A	T	5: 33,591,147 (GRCm39)	S58R	unknown	Het
Or2ag16	A	T	7: 106,351,778 (GRCm39)	N272K	probably damaging	Het
Or52e4	A	G	7: 104,706,086 (GRCm39)	D211G	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	A	19: 5,210,823 (GRCm39)	I151F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pclo	C	T	5: 14,838,443 (GRCm39)	Q1417*	probably null	Het
Plbd2	T	A	5: 120,631,131 (GRCm39)	K215N	probably benign	Het
Polk	T	C	13: 96,631,999 (GRCm39)	K245E	possibly damaging	Het
Pramel17	T	A	4: 101,694,094 (GRCm39)	Q263L	probably benign	Het
Prl	T	G	13: 27,243,530 (GRCm39)	I65S	probably benign	Het
Proser3	T	C	7: 30,239,781 (GRCm39)	H441R	probably benign	Het
Psmb3	A	G	11: 97,597,728 (GRCm39)	K98R	probably benign	Het
Ptpn20	T	C	14: 33,354,882 (GRCm39)	V319A	probably damaging	Het
Ptprj	A	T	2: 90,290,991 (GRCm39)	Y397N	probably damaging	Het
Rp1	T	C	1: 4,420,087 (GRCm39)		probably null	Het
Sgsm1	T	A	5: 113,428,246 (GRCm39)	Y314F	probably damaging	Het
Sh3pxd2a	G	A	19: 47,271,532 (GRCm39)	R244C	probably damaging	Het
Sspo	G	A	6: 48,461,767 (GRCm39)	V3466M	possibly damaging	Het
Syne2	T	A	12: 76,013,568 (GRCm39)	F2921I	probably benign	Het
Trank1	T	A	9: 111,206,967 (GRCm39)	M1700K	probably benign	Het
Trmt112	T	A	19: 6,887,563 (GRCm39)	L4H	probably damaging	Het
Trmu	A	G	15: 85,779,207 (GRCm39)	T285A	probably benign	Het
Ttn	A	G	2: 76,601,846 (GRCm39)		probably null	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zc3hav1	A	T	6: 38,309,103 (GRCm39)	M573K	probably benign	Het
Zcchc8	T	C	5: 123,838,972 (GRCm39)	E522G	probably damaging	Het
Zfp354a	T	C	11: 50,961,381 (GRCm39)	S529P	probably damaging	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	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
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
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'- TAAACCTAAACCTAAGGGTGCC -3'
(R):5'- ACCTTGGCTGTCTTCCTGAAG -3'

Sequencing Primer
(F):5'- AAACCTAAGGGTGCCTTCCTTC -3'
(R):5'- CTGTCTTCCTGAAGGAGAGAGGC -3'

Posted On

2018-10-18