Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Pklr'

408369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pklr

Ensembl Gene

ENSMUSG00000041237

Gene Name

pyruvate kinase liver and red blood cell

Synonyms

R-PK, Pk1, Pk-1

Accession Numbers

Essential gene?

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

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

89043449-89054091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89049963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 313 (I313F)

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: I344F

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

SMART Domains

Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: I344F

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: I313F

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

SMART Domains

Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: I313F

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

Coding Region Coverage

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	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
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
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

Posted On

2016-08-02