Mutagenetix > Incidental Mutation

Incidental Mutation 'R7711:Pklr'

594596

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

045769-MU

Accession Numbers

Essential gene?

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

Stock #

R7711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89043449-89054091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89048649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 104 (L104P)

Ref Sequence

ENSEMBL: ENSMUSP00000035417 (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: L104P

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

SMART Domains

Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: L104P

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: L73P

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

SMART Domains

Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: L73P

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 damaging
Transcript: ENSMUST00000127058
AA Change: L40P

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

SMART Domains

Protein: ENSMUSP00000119392
Gene: ENSMUSG00000041237
AA Change: L40P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,886,723 (GRCm39)	E342K	possibly damaging	Het
9430015G10Rik	T	G	4: 156,203,649 (GRCm39)	V34G	probably damaging	Het
Alkbh3	T	C	2: 93,838,437 (GRCm39)	S44G	probably benign	Het
Alpk2	A	T	18: 65,439,555 (GRCm39)	C613S	probably benign	Het
Aplp2	G	A	9: 31,072,645 (GRCm39)	R488C	probably damaging	Het
Arid1b	A	G	17: 5,387,095 (GRCm39)	N1463S	probably benign	Het
Atxn2l	A	T	7: 126,100,441 (GRCm39)	L125Q	probably damaging	Het
Cd3d	A	G	9: 44,897,634 (GRCm39)	K172E	probably benign	Het
Chd7	T	A	4: 8,805,234 (GRCm39)	D764E	probably benign	Het
Col19a1	T	C	1: 24,569,089 (GRCm39)	I220V	unknown	Het
Cpq	T	C	15: 33,497,493 (GRCm39)	I411T	probably benign	Het
Crybg2	C	A	4: 133,792,844 (GRCm39)	H160N	probably benign	Het
Cryl1	A	T	14: 57,513,013 (GRCm39)	C285S	probably benign	Het
Dapk1	A	G	13: 60,909,365 (GRCm39)	D1326G	probably damaging	Het
Dgkh	A	G	14: 78,962,459 (GRCm39)	V24A	probably benign	Het
Dnajb4	A	C	3: 151,892,154 (GRCm39)	S226R	probably benign	Het
Dnm3	A	T	1: 161,819,622 (GRCm39)	I850N	possibly damaging	Het
Dtna	G	T	18: 23,758,253 (GRCm39)		probably null	Het
Efcab6	G	T	15: 83,834,125 (GRCm39)	D494E	probably benign	Het
Fam169a	G	T	13: 97,263,196 (GRCm39)	E550*	probably null	Het
Fbxw7	A	G	3: 84,832,988 (GRCm39)	N10S	probably benign	Het
Flrt2	T	C	12: 95,747,528 (GRCm39)	F622S	probably damaging	Het
Gprc5d	G	A	6: 135,093,355 (GRCm39)	T184I	possibly damaging	Het
Grem2	A	G	1: 174,664,693 (GRCm39)	V52A	probably damaging	Het
Gtf3c2	G	T	5: 31,327,533 (GRCm39)	T310N	probably damaging	Het
H2-T13	T	A	17: 36,394,770 (GRCm39)	N51I	probably damaging	Het
Hyou1	A	G	9: 44,295,759 (GRCm39)	D338G	possibly damaging	Het
Ifna6	T	C	4: 88,745,971 (GRCm39)	S107P	probably benign	Het
Kif14	G	T	1: 136,399,191 (GRCm39)	G451C	probably benign	Het
Kit	T	A	5: 75,798,019 (GRCm39)	F436I	probably damaging	Het
Lonp2	G	A	8: 87,440,636 (GRCm39)	C751Y	probably damaging	Het
Lonrf1	C	A	8: 36,716,375 (GRCm39)	G87C	probably damaging	Het
Lrp2	T	C	2: 69,309,687 (GRCm39)		probably null	Het
Lrrc37	G	T	11: 103,505,738 (GRCm39)	Q2077K	probably benign	Het
Mkln1	A	G	6: 31,469,584 (GRCm39)	H598R	probably damaging	Het
Mmaa	T	C	8: 79,994,774 (GRCm39)	H344R	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myh7b	T	G	2: 155,462,323 (GRCm39)	L342R	probably damaging	Het
Or12e8	A	G	2: 87,187,871 (GRCm39)	N28D	probably benign	Het
Or2h2b-ps1	C	T	17: 37,480,847 (GRCm39)	G129R	probably damaging	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or7e178	A	T	9: 20,225,319 (GRCm39)	V299E	possibly damaging	Het
Pcsk5	T	A	19: 17,416,444 (GRCm39)	Y1668F	possibly damaging	Het
Pfn4	C	T	12: 4,824,414 (GRCm39)	T47I	possibly damaging	Het
Plcxd2	A	G	16: 45,800,693 (GRCm39)	V177A	probably benign	Het
Pramel16	T	C	4: 143,675,822 (GRCm39)	S335G	probably benign	Het
Prdm10	G	T	9: 31,268,528 (GRCm39)	A826S	probably damaging	Het
Prrt4	A	G	6: 29,177,455 (GRCm39)	S105P	probably benign	Het
Prss51	T	A	14: 64,334,937 (GRCm39)	V164E	probably damaging	Het
Psap	T	C	10: 60,135,634 (GRCm39)	V360A	probably damaging	Het
Psg22	T	C	7: 18,452,267 (GRCm39)		probably null	Het
Qrfprl	A	G	6: 65,418,357 (GRCm39)	H23R		Het
Rad51	A	G	2: 118,962,071 (GRCm39)	Q206R	probably benign	Het
Rap1gds1	T	C	3: 138,664,874 (GRCm39)	K277R	probably benign	Het
Rassf2	T	A	2: 131,847,297 (GRCm39)	T103S	probably benign	Het
Rbm15b	T	A	9: 106,763,142 (GRCm39)	H342L	possibly damaging	Het
Rsf1	G	GACCGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Scaf8	T	C	17: 3,237,909 (GRCm39)	F561L	probably damaging	Het
Scn1a	G	A	2: 66,134,004 (GRCm39)	A130V	probably benign	Het
Scn7a	T	C	2: 66,531,221 (GRCm39)	E552G	probably damaging	Het
Slc39a14	T	A	14: 70,551,124 (GRCm39)	R183W	probably damaging	Het
Slfn1	A	T	11: 83,012,089 (GRCm39)	K68N	possibly damaging	Het
Slx4ip	A	G	2: 136,909,914 (GRCm39)	D303G	probably damaging	Het
Snx17	T	A	5: 31,352,804 (GRCm39)	F101Y	probably damaging	Het
Spata31e3	T	G	13: 50,401,131 (GRCm39)	R398S	probably benign	Het
Specc1l	C	A	10: 75,066,642 (GRCm39)	N30K	probably benign	Het
Spmip2	A	G	3: 79,313,167 (GRCm39)	I80M	probably damaging	Het
Tbx19	A	G	1: 164,966,768 (GRCm39)	S369P	probably benign	Het
Usp17ld	T	C	7: 102,899,489 (GRCm39)	H481R	probably damaging	Het
Wnt2	A	G	6: 17,990,036 (GRCm39)	L287P	probably benign	Het
Zfhx4	G	T	3: 5,462,016 (GRCm39)	M1230I	probably damaging	Het
Zfp1	T	C	8: 112,396,794 (GRCm39)	C272R	not run	Het
Zfp458	A	G	13: 67,407,664 (GRCm39)	S64P	possibly 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
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
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'- CTCCTCAAGGGTGTGTATACTG -3'
(R):5'- TTGCAAAGCTTTCAGCCGC -3'

Sequencing Primer
(F):5'- TATACTGGTCGGAGTGGGCAAAAC -3'
(R):5'- CGATGGACTCTGCATGGTACTAGC -3'

Posted On

2019-11-12