Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:Pklr'

94447

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

039147-MU

Accession Numbers

Essential gene?

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

Stock #

R1061 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

89043449-89054091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89052188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 467 (R467C)

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: R498C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: R498C

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: R467C

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

SMART Domains

Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: R467C

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: ENSMUST00000127654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148097

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,108,153 (GRCm39)	A715T	probably benign	Het
Ampd2	A	G	3: 107,983,005 (GRCm39)	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,531,248 (GRCm39)	V171E	probably damaging	Het
Arid4a	T	A	12: 71,121,729 (GRCm39)	S381R	probably damaging	Het
Armc8	T	G	9: 99,419,784 (GRCm39)	N51H	probably damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,114,069 (GRCm39)	K471*	probably null	Het
Birc6	A	G	17: 74,996,307 (GRCm39)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,746,409 (GRCm39)	I139T	probably benign	Het
Ccdc60	C	A	5: 116,310,527 (GRCm39)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,286,128 (GRCm39)	A226V	probably benign	Het
Cibar2	C	A	8: 120,896,443 (GRCm39)		probably null	Het
Cog1	T	G	11: 113,542,863 (GRCm39)	S170A	probably benign	Het
Cwc15	T	C	9: 14,419,211 (GRCm39)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,923,643 (GRCm39)	D333E	probably benign	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Dlc1	T	A	8: 37,325,205 (GRCm39)	T367S	probably benign	Het
Dnah17	T	C	11: 117,943,514 (GRCm39)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,452,486 (GRCm39)	Y165*	probably null	Het
Eml6	T	C	11: 29,727,267 (GRCm39)	D1285G	probably damaging	Het
Fasn	T	C	11: 120,713,008 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,187,883 (GRCm39)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Flvcr1	A	T	1: 190,740,370 (GRCm39)	V550E	probably benign	Het
Gcm2	A	G	13: 41,259,347 (GRCm39)	W41R	probably damaging	Het
Gli2	A	T	1: 118,782,247 (GRCm39)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,057,623 (GRCm39)	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,181,135 (GRCm39)	S66T	probably benign	Het
Hsph1	A	T	5: 149,541,883 (GRCm39)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,929,915 (GRCm39)	V220M	probably damaging	Het
Klhl25	T	A	7: 75,516,268 (GRCm39)	Y391*	probably null	Het
Mc2r	A	T	18: 68,540,880 (GRCm39)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,074,821 (GRCm39)	D106E	probably benign	Het
Nup43	G	T	10: 7,543,435 (GRCm39)	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,237,663 (GRCm39)	E197D	probably damaging	Het
Odad1	T	C	7: 45,591,179 (GRCm39)	I218T	probably damaging	Het
Or10d1c	C	A	9: 38,893,779 (GRCm39)	C187F	probably damaging	Het
Or55b4	T	A	7: 102,133,321 (GRCm39)	*335C	probably null	Het
Or5p60	T	C	7: 107,723,663 (GRCm39)	Y269C	probably damaging	Het
Or8h8	A	T	2: 86,753,126 (GRCm39)	V250D	possibly damaging	Het
Pitrm1	A	G	13: 6,605,611 (GRCm39)	H186R	probably damaging	Het
Plxna2	A	G	1: 194,326,401 (GRCm39)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,558,682 (GRCm39)		probably null	Het
R3hcc1l	C	T	19: 42,571,865 (GRCm39)	R135*	probably null	Het
Ralyl	A	C	3: 14,180,761 (GRCm39)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
S100a1	T	C	3: 90,418,619 (GRCm39)	N65S	probably damaging	Het
Scn11a	A	T	9: 119,624,729 (GRCm39)	M531K	probably damaging	Het
Slc5a5	T	A	8: 71,342,865 (GRCm39)	M232L	probably benign	Het
Tet3	A	T	6: 83,350,305 (GRCm39)	N1054K	probably damaging	Het
Tg	A	G	15: 66,570,408 (GRCm39)	N1427D	probably benign	Het
Tns1	A	C	1: 73,956,831 (GRCm39)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,153,156 (GRCm39)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,468,131 (GRCm39)	E40G	probably damaging	Het
Usp34	T	C	11: 23,334,420 (GRCm39)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,038,603 (GRCm39)	T726I	probably benign	Het
Vmn2r97	A	T	17: 19,148,440 (GRCm39)	R112*	probably null	Het
Vwa2	G	T	19: 56,897,426 (GRCm39)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,196,511 (GRCm39)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,958,725 (GRCm39)		probably null	Het
Wrap53	A	G	11: 69,453,226 (GRCm39)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,211,161 (GRCm39)	W216L	probably damaging	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
R1434:Pklr	UTSW	3	89,050,342 (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'- AAGGACTGAGCCATCTCTCTAGCC -3'
(R):5'- AGAGTCCAAGACACACCCATCTTAGTG -3'

Sequencing Primer
(F):5'- tgccagtgaagaccagaag -3'
(R):5'- TGACTCCTAGAAAACTCTTGGGC -3'

Posted On

2014-01-05