Incidental Mutation 'IGL01310:Prkch'
| ID |
73638 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prkch
|
| Ensembl Gene |
ENSMUSG00000021108 |
| Gene Name |
protein kinase C, eta |
| Synonyms |
Pkch |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
73631570-73824959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73805787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 521
(I521V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021527]
[ENSMUST00000221153]
|
| AlphaFold |
P23298 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021527
AA Change: I521V
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: I521V
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
117 |
1.28e-13 |
SMART |
|
C1
|
172 |
222 |
7.92e-14 |
SMART |
|
C1
|
246 |
295 |
2.48e-15 |
SMART |
|
S_TKc
|
355 |
614 |
5.62e-100 |
SMART |
|
S_TK_X
|
615 |
678 |
8.32e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119092
|
| SMART Domains |
Protein: ENSMUSP00000112499
Gene: ENSMUSG00000021108
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
117 |
1.28e-13 |
SMART |
|
C1
|
172 |
222 |
7.92e-14 |
SMART |
|
C1
|
246 |
295 |
2.48e-15 |
SMART |
|
S_TKc
|
355 |
597 |
6.67e-84 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221153
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in the human gene are associated with susceptibility to cerebral infarction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit thymus hypoplasia, enlarged lymph nodes and alterations in T cell homeostasis and activation. Mice homozygous for a different knock-out allele show impaired wound healing and increased incidence of tumors by chemical induction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930431F12Rik |
A |
T |
5: 45,125,156 (GRCm39) |
|
noncoding transcript |
Het |
| Abca12 |
A |
T |
1: 71,323,315 (GRCm39) |
I1589N |
probably benign |
Het |
| Abca8a |
T |
G |
11: 109,950,801 (GRCm39) |
D888A |
probably benign |
Het |
| Adam5 |
C |
T |
8: 25,232,150 (GRCm39) |
|
probably benign |
Het |
| Amer1 |
A |
T |
X: 94,470,716 (GRCm39) |
N467K |
probably benign |
Het |
| Atp6v0a2 |
A |
G |
5: 124,783,968 (GRCm39) |
D272G |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,575,794 (GRCm39) |
N751K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,652,080 (GRCm39) |
N250K |
probably damaging |
Het |
| Cndp2 |
G |
T |
18: 84,689,002 (GRCm39) |
P260Q |
possibly damaging |
Het |
| Cnnm3 |
A |
G |
1: 36,551,956 (GRCm39) |
D322G |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,851,054 (GRCm39) |
S1606T |
possibly damaging |
Het |
| Crybg1 |
A |
G |
10: 43,879,596 (GRCm39) |
S531P |
probably damaging |
Het |
| Espnl |
A |
T |
1: 91,268,333 (GRCm39) |
K320* |
probably null |
Het |
| Glt1d1 |
A |
G |
5: 127,709,384 (GRCm39) |
T13A |
possibly damaging |
Het |
| Gpam |
C |
T |
19: 55,066,764 (GRCm39) |
A584T |
possibly damaging |
Het |
| Gpr19 |
A |
G |
6: 134,846,705 (GRCm39) |
I289T |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,363,800 (GRCm39) |
I572V |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,027,308 (GRCm39) |
N502K |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,062,247 (GRCm39) |
M6V |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,085,724 (GRCm39) |
V263A |
probably damaging |
Het |
| Il33 |
G |
A |
19: 29,930,156 (GRCm39) |
A65T |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,598,227 (GRCm39) |
M1K |
probably null |
Het |
| Izumo3 |
T |
C |
4: 92,035,217 (GRCm39) |
|
probably benign |
Het |
| Kdr |
G |
A |
5: 76,110,261 (GRCm39) |
P909S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,997,182 (GRCm39) |
E262K |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,208,996 (GRCm39) |
Q278L |
probably benign |
Het |
| Lgi2 |
G |
T |
5: 52,711,807 (GRCm39) |
P195Q |
probably benign |
Het |
| Lpcat3 |
T |
C |
6: 124,676,301 (GRCm39) |
F120S |
possibly damaging |
Het |
| Nalcn |
C |
T |
14: 123,554,661 (GRCm39) |
R910Q |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,366,902 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
A |
T |
1: 169,326,431 (GRCm39) |
V440E |
probably benign |
Het |
| Or10ag60 |
T |
A |
2: 87,437,852 (GRCm39) |
I40N |
possibly damaging |
Het |
| Or4f14 |
C |
T |
2: 111,742,652 (GRCm39) |
V208M |
probably benign |
Het |
| Or51ah3 |
C |
T |
7: 103,210,008 (GRCm39) |
S108F |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,086,865 (GRCm39) |
I154T |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,405,974 (GRCm39) |
D75G |
probably damaging |
Het |
| Pgm5 |
A |
G |
19: 24,812,130 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rps6kc1 |
T |
A |
1: 190,515,822 (GRCm39) |
E968V |
probably benign |
Het |
| Slc25a30 |
T |
C |
14: 76,007,037 (GRCm39) |
Y153C |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,292,171 (GRCm39) |
|
probably null |
Het |
| Spmip4 |
C |
A |
6: 50,551,175 (GRCm39) |
V425L |
probably benign |
Het |
| Tbc1d14 |
T |
A |
5: 36,700,544 (GRCm39) |
K275* |
probably null |
Het |
| Tnc |
T |
C |
4: 63,931,314 (GRCm39) |
T799A |
probably benign |
Het |
| Trdn |
A |
T |
10: 33,181,094 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,706,879 (GRCm39) |
|
probably benign |
Het |
| Uaca |
T |
C |
9: 60,779,507 (GRCm39) |
M1296T |
probably benign |
Het |
| Ubash3a |
A |
C |
17: 31,434,116 (GRCm39) |
I154L |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,317,200 (GRCm39) |
|
probably null |
Het |
| Xpc |
T |
C |
6: 91,467,089 (GRCm39) |
K915E |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,724,153 (GRCm39) |
I2052T |
possibly damaging |
Het |
|
| Other mutations in Prkch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Prkch
|
APN |
12 |
73,749,363 (GRCm39) |
splice site |
probably benign |
|
|
IGL00548:Prkch
|
APN |
12 |
73,749,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01782:Prkch
|
APN |
12 |
73,806,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Prkch
|
APN |
12 |
73,749,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
Nighthawk
|
UTSW |
12 |
73,768,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Topsoil
|
UTSW |
12 |
73,632,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
wolfcreek
|
UTSW |
12 |
73,806,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Prkch
|
UTSW |
12 |
73,749,538 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0084:Prkch
|
UTSW |
12 |
73,744,761 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0127:Prkch
|
UTSW |
12 |
73,768,561 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0471:Prkch
|
UTSW |
12 |
73,738,426 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0490:Prkch
|
UTSW |
12 |
73,806,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Prkch
|
UTSW |
12 |
73,632,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Prkch
|
UTSW |
12 |
73,632,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Prkch
|
UTSW |
12 |
73,749,320 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1572:Prkch
|
UTSW |
12 |
73,696,131 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1651:Prkch
|
UTSW |
12 |
73,805,775 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2114:Prkch
|
UTSW |
12 |
73,749,290 (GRCm39) |
missense |
probably benign |
|
|
R3714:Prkch
|
UTSW |
12 |
73,822,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Prkch
|
UTSW |
12 |
73,749,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4749:Prkch
|
UTSW |
12 |
73,739,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Prkch
|
UTSW |
12 |
73,749,667 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5381:Prkch
|
UTSW |
12 |
73,738,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5682:Prkch
|
UTSW |
12 |
73,744,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Prkch
|
UTSW |
12 |
73,749,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Prkch
|
UTSW |
12 |
73,806,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Prkch
|
UTSW |
12 |
73,632,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8074:Prkch
|
UTSW |
12 |
73,747,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8294:Prkch
|
UTSW |
12 |
73,806,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Prkch
|
UTSW |
12 |
73,749,538 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8312:Prkch
|
UTSW |
12 |
73,807,358 (GRCm39) |
missense |
noncoding transcript |
|
|
R8734:Prkch
|
UTSW |
12 |
73,632,018 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8766:Prkch
|
UTSW |
12 |
73,749,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8998:Prkch
|
UTSW |
12 |
73,742,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8999:Prkch
|
UTSW |
12 |
73,742,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Prkch
|
UTSW |
12 |
73,822,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9152:Prkch
|
UTSW |
12 |
73,738,418 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9176:Prkch
|
UTSW |
12 |
73,746,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9194:Prkch
|
UTSW |
12 |
73,768,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Prkch
|
UTSW |
12 |
73,805,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9764:Prkch
|
UTSW |
12 |
73,747,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9794:Prkch
|
UTSW |
12 |
73,744,744 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Posted On |
2013-10-07 |
Incidental Mutation