Incidental Mutation 'R0088:Pklr'
| ID |
19993 |
| 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 |
038375-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R0088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
89043449-89054091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89049215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 187
(Y187C)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000047111
AA Change: Y218C
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
AA Change: Y218C
| 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: Y187C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
AA Change: Y187C
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151591
|
| Meta Mutation Damage Score |
0.7387 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
82% (32/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
| Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
| Bnc1 |
T |
G |
7: 81,628,246 (GRCm39) |
N39T |
possibly damaging |
Het |
| Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,307,741 (GRCm39) |
E5G |
probably damaging |
Het |
| Eqtn |
T |
C |
4: 94,808,227 (GRCm39) |
T192A |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
| Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
| Kif2a |
G |
A |
13: 107,111,940 (GRCm39) |
A478V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,340 (GRCm39) |
S93G |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
| Ndel1 |
A |
C |
11: 68,724,246 (GRCm39) |
S242R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
| Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
| Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
| Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
| Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttyh2 |
G |
T |
11: 114,581,081 (GRCm39) |
G107C |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,904,199 (GRCm39) |
D540G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTACCATGCAGAGTCCATCGCC -3'
(R):5'- TGCCAAGACTGAGCCGGGATATAG -3'
Sequencing Primer
(F):5'- TGAGAAGCAAGCCTCTGTCTG -3'
(R):5'- AAGCTTGGATTCTCAAATGCCC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation