Mutagenetix > Incidental Mutation

Incidental Mutation 'R1434:Pklr'

159363

Institutional Source

Beutler Lab

Gene Symbol

Pklr

Ensembl Gene

ENSMUSG00000041237

Gene Name

pyruvate kinase liver and red blood cell

Synonyms

R-PK, Pk1, Pk-1

MMRRC Submission

039489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R1434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89043449-89054091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89050342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 366 (D366V)

Ref Sequence

ENSEMBL: ENSMUSP00000103106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029686] [ENSMUST00000047111] [ENSMUST00000107482] [ENSMUST00000127058]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029686

SMART Domains

Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
Pfam:Ion_trans_N	48	91	1.3e-22	PFAM
Pfam:Ion_trans	92	357	3.7e-25	PFAM
low complexity region	358	369	N/A	INTRINSIC
Blast:cNMP	370	402	7e-14	BLAST
cNMP	427	540	2.32e-20	SMART
Blast:cNMP	548	588	2e-17	BLAST
low complexity region	636	656	N/A	INTRINSIC
low complexity region	698	717	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000047111
AA Change: D397V

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

SMART Domains

Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: D397V

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:PK	85	438	6.9e-165	PFAM
Pfam:PK_C	453	571	3.6e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107482
AA Change: D366V

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

SMART Domains

Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: D366V

Domain	Start	End	E-Value	Type
Pfam:PK	54	407	3.1e-163	PFAM
Pfam:PK_C	421	541	4.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127058

SMART Domains

Protein: ENSMUSP00000119392
Gene: ENSMUSG00000041237

Domain	Start	End	E-Value	Type
Pfam:PK	21	72	7.6e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148097

Meta Mutation Damage Score

0.9751

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for loss of function mutations in this gene suffer from hemolytic anemia. This is also a candidate gene for malaria resistance QTL Char4 and immunity to Salmonella typhimurium QTL Ity4. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,348,959 (GRCm39)	H851N	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Ankhd1	A	G	18: 36,758,212 (GRCm39)	I969V	probably benign	Het
Apob	A	G	12: 8,059,715 (GRCm39)	I2699M	probably damaging	Het
Aqr	A	T	2: 113,980,890 (GRCm39)	L297Q	probably damaging	Het
Arb2a	A	T	13: 77,910,041 (GRCm39)	Y98F	probably damaging	Het
Camsap1	A	G	2: 25,835,190 (GRCm39)	Y301H	probably damaging	Het
Ccdc88c	A	G	12: 100,905,425 (GRCm39)		probably benign	Het
Cd209b	T	A	8: 3,973,367 (GRCm39)	I106F	possibly damaging	Het
Cdkn1b	T	A	6: 134,898,060 (GRCm39)	W60R	probably damaging	Het
Coasy	A	G	11: 100,975,822 (GRCm39)		probably benign	Het
Col2a1	T	A	15: 97,877,532 (GRCm39)	Q1017L	probably damaging	Het
Cspg4b	G	A	13: 113,505,026 (GRCm39)	V510I	possibly damaging	Het
Ctnnal1	T	A	4: 56,847,971 (GRCm39)	N56I	probably damaging	Het
Cyb561d2	T	A	9: 107,418,842 (GRCm39)		probably benign	Het
Dcst1	G	T	3: 89,259,826 (GRCm39)	T632N	probably damaging	Het
Ddx1	C	T	12: 13,287,232 (GRCm39)	V267I	probably benign	Het
Dnah10	A	T	5: 124,852,050 (GRCm39)	M1736L	probably benign	Het
Eln	G	A	5: 134,758,291 (GRCm39)		probably benign	Het
Elp1	T	A	4: 56,781,193 (GRCm39)	E493D	probably benign	Het
Enpp2	A	T	15: 54,726,077 (GRCm39)	D566E	probably damaging	Het
Ezh1	T	C	11: 101,085,743 (GRCm39)	K638R	probably damaging	Het
Fdx2	C	A	9: 20,984,694 (GRCm39)	G37W	probably benign	Het
Grin2b	T	C	6: 135,820,193 (GRCm39)	I340V	probably benign	Het
Il16	T	C	7: 83,304,520 (GRCm39)	T671A	probably benign	Het
Kcnd2	T	A	6: 21,216,356 (GRCm39)	M20K	probably damaging	Het
Kndc1	C	T	7: 139,502,600 (GRCm39)	S962F	probably damaging	Het
L1td1	A	G	4: 98,626,054 (GRCm39)	S750G	possibly damaging	Het
Lama2	A	G	10: 27,084,366 (GRCm39)	C935R	probably damaging	Het
Lgalsl	T	C	11: 20,776,418 (GRCm39)	D158G	possibly damaging	Het
Lman1	A	T	18: 66,126,144 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,111,407 (GRCm39)	E709G	probably damaging	Het
Lrfn3	T	C	7: 30,055,352 (GRCm39)	H531R	possibly damaging	Het
Mark3	A	G	12: 111,589,759 (GRCm39)		probably benign	Het
Mov10	T	C	3: 104,702,490 (GRCm39)	E997G	probably damaging	Het
Myo15a	T	A	11: 60,395,157 (GRCm39)	W2484R	probably benign	Het
Myo1g	G	T	11: 6,459,372 (GRCm39)	Q833K	probably benign	Het
Ncoa3	T	A	2: 165,897,430 (GRCm39)	D740E	probably benign	Het
Nol12	A	G	15: 78,822,153 (GRCm39)		probably benign	Het
Nrxn2	T	A	19: 6,493,642 (GRCm39)		probably null	Het
Nsfl1c	A	C	2: 151,342,666 (GRCm39)	I79L	probably benign	Het
Or52b2	T	C	7: 104,986,468 (GRCm39)	I152V	probably benign	Het
Or5b108	A	G	19: 13,168,662 (GRCm39)	I210M	probably benign	Het
Or5k1	G	T	16: 58,617,811 (GRCm39)	H133N	probably benign	Het
Osbpl8	A	C	10: 111,127,442 (GRCm39)	E842A	probably benign	Het
Pdxk	G	T	10: 78,276,645 (GRCm39)	T310K	probably benign	Het
Phip	T	G	9: 82,841,658 (GRCm39)	K54Q	probably damaging	Het
Plxna2	T	A	1: 194,433,848 (GRCm39)		probably benign	Het
Ppp4r3a	A	T	12: 101,009,783 (GRCm39)	V618E	probably damaging	Het
Prdm12	A	T	2: 31,530,319 (GRCm39)	Q70L	possibly damaging	Het
Ptgr3	A	G	18: 84,112,596 (GRCm39)	K91E	probably benign	Het
Ptpn21	A	T	12: 98,654,849 (GRCm39)	M706K	probably damaging	Het
Ptprq	A	T	10: 107,422,575 (GRCm39)	F1606I	probably damaging	Het
Rasgrp4	T	C	7: 28,837,152 (GRCm39)		probably null	Het
Rlbp1	C	A	7: 79,029,661 (GRCm39)		probably null	Het
Rtp2	T	C	16: 23,746,193 (GRCm39)	D166G	probably benign	Het
Ryr3	A	C	2: 112,475,604 (GRCm39)	F4481V	probably damaging	Het
Scn2a	A	G	2: 65,532,335 (GRCm39)	D649G	possibly damaging	Het
Slc30a5	T	A	13: 100,939,950 (GRCm39)	D655V	probably damaging	Het
Slco5a1	G	A	1: 12,942,132 (GRCm39)	A838V	probably benign	Het
Spata6l	G	T	19: 28,905,039 (GRCm39)		probably benign	Het
Srprb	A	G	9: 103,067,501 (GRCm39)	V239A	probably damaging	Het
Tceanc2	T	C	4: 107,004,837 (GRCm39)	T104A	probably benign	Het
Tcp1	T	C	17: 13,141,493 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr19	G	A	5: 65,380,847 (GRCm39)		probably benign	Het
Zfhx4	T	A	3: 5,306,919 (GRCm39)	H48Q	probably benign	Het
Zfp787	T	A	7: 6,135,234 (GRCm39)	H339L	probably damaging	Het
Zfp839	G	T	12: 110,827,333 (GRCm39)	R408L	probably benign	Het

Other mutations in Pklr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:Pklr	APN	3	89,052,302 (GRCm39)	missense	probably damaging	1.00
IGL02108:Pklr	APN	3	89,044,710 (GRCm39)	missense	probably damaging	1.00
IGL03030:Pklr	APN	3	89,049,963 (GRCm39)	missense	probably damaging	1.00
IGL03401:Pklr	APN	3	89,050,036 (GRCm39)	missense	probably benign	0.41
R0088:Pklr	UTSW	3	89,049,215 (GRCm39)	missense	probably damaging	1.00
R0801:Pklr	UTSW	3	89,052,829 (GRCm39)	nonsense	probably null
R1061:Pklr	UTSW	3	89,052,188 (GRCm39)	missense	probably damaging	1.00
R2030:Pklr	UTSW	3	89,050,545 (GRCm39)	missense	probably damaging	1.00
R2131:Pklr	UTSW	3	89,049,967 (GRCm39)	missense	probably damaging	1.00
R3703:Pklr	UTSW	3	89,050,008 (GRCm39)	missense	probably damaging	1.00
R4372:Pklr	UTSW	3	89,052,830 (GRCm39)	nonsense	probably null
R5279:Pklr	UTSW	3	89,050,566 (GRCm39)	missense	probably damaging	1.00
R5401:Pklr	UTSW	3	89,049,173 (GRCm39)	missense	probably damaging	1.00
R5809:Pklr	UTSW	3	89,049,091 (GRCm39)	missense	probably benign
R5946:Pklr	UTSW	3	89,043,503 (GRCm39)	missense	probably benign	0.43
R6331:Pklr	UTSW	3	89,044,662 (GRCm39)	missense	probably damaging	0.99
R7559:Pklr	UTSW	3	89,050,365 (GRCm39)	missense	probably damaging	1.00
R7711:Pklr	UTSW	3	89,048,649 (GRCm39)	missense	probably damaging	1.00
R7848:Pklr	UTSW	3	89,050,285 (GRCm39)	missense	possibly damaging	0.81
R7943:Pklr	UTSW	3	89,048,814 (GRCm39)	missense	probably damaging	0.99
R8145:Pklr	UTSW	3	89,052,795 (GRCm39)	missense	probably benign
R8953:Pklr	UTSW	3	89,049,612 (GRCm39)	missense	probably damaging	1.00
R8964:Pklr	UTSW	3	89,050,036 (GRCm39)	missense	probably benign	0.41
R9195:Pklr	UTSW	3	89,048,636 (GRCm39)	missense	probably damaging	1.00
Z1176:Pklr	UTSW	3	89,052,162 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCATTGAGATCCCAGCAGAGAAG -3'
(R):5'- AAACAACTGGCGGTGGTACACAGC -3'

Sequencing Primer
(F):5'- GAACTTCCAGGGTCTCAGTGTAAC -3'
(R):5'- TGGTACACAGCGGCCTC -3'

Posted On

2014-03-14