Mutagenetix > Incidental Mutation

Incidental Mutation 'R2030:Pklr'

221106

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

040037-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R2030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89043449-89054091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89050545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 402 (Y402C)

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: Y433C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: Y433C

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: Y402C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: Y402C

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

0.4521

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	C	T	13: 41,981,735 (GRCm39)	V13I	probably damaging	Het
Ak2	A	G	4: 128,902,013 (GRCm39)	K229E	probably benign	Het
Atp13a4	A	T	16: 29,241,502 (GRCm39)	V741D	probably damaging	Het
Bdp1	A	T	13: 100,197,697 (GRCm39)	M896K	probably benign	Het
Ccser1	C	T	6: 61,288,547 (GRCm39)	R237C	probably benign	Het
Cdk7	A	G	13: 100,859,182 (GRCm39)		probably benign	Het
CK137956	A	G	4: 127,845,180 (GRCm39)	S188P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbndd2	A	G	2: 164,330,563 (GRCm39)	D72G	probably damaging	Het
Disp3	A	T	4: 148,344,423 (GRCm39)	I493N	probably damaging	Het
Dnaaf10	A	T	11: 17,179,832 (GRCm39)	T278S	probably benign	Het
Epx	T	C	11: 87,755,650 (GRCm39)	D678G	probably damaging	Het
Fbxw5	G	T	2: 25,394,810 (GRCm39)	V235L	probably damaging	Het
Fmo4	T	A	1: 162,621,741 (GRCm39)	D490V	probably damaging	Het
Fuca2	A	G	10: 13,382,518 (GRCm39)	Y268C	probably damaging	Het
Gm4787	C	T	12: 81,425,544 (GRCm39)	V205I	probably damaging	Het
Gpat3	G	A	5: 101,045,687 (GRCm39)	R437K	probably benign	Het
Herc2	A	G	7: 55,834,121 (GRCm39)	S3109G	probably damaging	Het
Hr	G	A	14: 70,808,888 (GRCm39)	R1117H	probably damaging	Het
Htra4	T	A	8: 25,523,593 (GRCm39)	D324V	probably damaging	Het
Kcnd3	A	G	3: 105,366,853 (GRCm39)	Y241C	probably damaging	Het
Kcp	G	A	6: 29,489,071 (GRCm39)	L1072F	probably damaging	Het
Lrrc52	T	C	1: 167,294,028 (GRCm39)	N86D	probably benign	Het
Mindy4	A	G	6: 55,188,247 (GRCm39)	T26A	probably damaging	Het
Mre11a	A	T	9: 14,707,101 (GRCm39)	N117Y	probably damaging	Het
Mrgprb1	A	T	7: 48,097,076 (GRCm39)	S279T	possibly damaging	Het
Myh13	T	G	11: 67,241,064 (GRCm39)	S814A	probably benign	Het
Ncapd2	A	G	6: 125,153,678 (GRCm39)	V679A	possibly damaging	Het
Nipbl	A	T	15: 8,379,771 (GRCm39)	V1007D	probably damaging	Het
Nlrp12	T	A	7: 3,277,049 (GRCm39)	H960L	probably damaging	Het
Or3a1c	T	A	11: 74,046,769 (GRCm39)	M263K	possibly damaging	Het
Or4a72	C	T	2: 89,405,558 (GRCm39)	V171I	probably benign	Het
Or7e169	A	G	9: 19,757,709 (GRCm39)	S69P	probably benign	Het
Prdm2	T	C	4: 142,859,334 (GRCm39)	T1319A	possibly damaging	Het
Rif1	T	A	2: 51,982,358 (GRCm39)	V541E	probably damaging	Het
Ryk	T	A	9: 102,758,855 (GRCm39)	I248N	possibly damaging	Het
Shisa2	A	T	14: 59,867,134 (GRCm39)	I129F	probably damaging	Het
Snap25	T	G	2: 136,611,973 (GRCm39)		probably benign	Het
Snx31	G	A	15: 36,525,848 (GRCm39)	P284S	probably benign	Het
Spata31g1	C	T	4: 42,974,131 (GRCm39)	Q1155*	probably null	Het
Tas2r140	A	G	6: 40,469,154 (GRCm39)	K328R	possibly damaging	Het
Tas2r140	T	C	6: 133,032,213 (GRCm39)	T182A	probably benign	Het
Thumpd2	G	A	17: 81,372,387 (GRCm39)	R35C	probably damaging	Het
Tnxb	A	T	17: 34,937,443 (GRCm39)	N3811Y	probably damaging	Het
Tpte	A	C	8: 22,835,901 (GRCm39)	N428T	probably damaging	Het
Trpm6	A	G	19: 18,831,629 (GRCm39)	D1498G	probably benign	Het
Tsc2	C	T	17: 24,842,444 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,703,277 (GRCm39)		probably benign	Het
Wdr24	A	G	17: 26,045,017 (GRCm39)	I251V	probably benign	Het
Zc3h6	T	C	2: 128,848,006 (GRCm39)	Y278H	probably damaging	Het
Zfat	A	G	15: 67,990,783 (GRCm39)		probably null	Het
Zfp442	A	T	2: 150,250,042 (GRCm39)	V620E	possibly damaging	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	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
R1061:Pklr	UTSW	3	89,052,188 (GRCm39)	missense	probably damaging	1.00
R1434:Pklr	UTSW	3	89,050,342 (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'- CTGACTGTATCATGCTGTCTGG -3'
(R):5'- TGGCCTCTAGAGTCCATAGC -3'

Sequencing Primer
(F):5'- TCTGGAGAGACCGCCAAAG -3'
(R):5'- GGCCTCTAGAGTCCATAGCTATCC -3'

Posted On

2014-08-25