Incidental Mutation 'IGL03010:Prkcz'
| ID |
407720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prkcz
|
| Ensembl Gene |
ENSMUSG00000029053 |
| Gene Name |
protein kinase C, zeta |
| Synonyms |
aPKCzeta, zetaPKC, Pkcz |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03010
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155344586-155445818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 155371262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 134
(H134N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030922]
[ENSMUST00000103178]
[ENSMUST00000123652]
[ENSMUST00000131975]
|
| AlphaFold |
Q02956 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030922
AA Change: H317N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: H317N
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
15 |
98 |
4.55e-24 |
SMART |
|
C1
|
131 |
180 |
6.73e-17 |
SMART |
|
S_TKc
|
252 |
518 |
5.49e-94 |
SMART |
|
S_TK_X
|
519 |
582 |
2.58e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103178
AA Change: H134N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: H134N
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
69 |
335 |
5.49e-94 |
SMART |
|
S_TK_X
|
336 |
399 |
2.58e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123652
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131975
|
| SMART Domains |
Protein: ENSMUSP00000116042
Gene: ENSMUSG00000029053
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
23 |
72 |
6.73e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139647
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Young, not mature, homozygous null mice have reduced B cell numbers and abnormal secondary lymph organ structure. Young mice have fewer Peyer's patches, poor delineation of B & T cell zones, and fewer follicles of small size. Spleens have less prominent B cell follicles and abnormal marginal zones. [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 |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Adamts4 |
T |
C |
1: 171,078,985 (GRCm39) |
C202R |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,876,390 (GRCm39) |
D409G |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,558,534 (GRCm39) |
I334T |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,670,375 (GRCm39) |
Y119* |
probably null |
Het |
| Cct2 |
T |
C |
10: 116,894,019 (GRCm39) |
D245G |
probably damaging |
Het |
| Ercc2 |
A |
G |
7: 19,125,491 (GRCm39) |
K486E |
possibly damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,508 (GRCm39) |
S273G |
possibly damaging |
Het |
| Fbxw24 |
T |
A |
9: 109,452,678 (GRCm39) |
I106L |
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,361,742 (GRCm39) |
I303T |
probably damaging |
Het |
| Habp2 |
T |
C |
19: 56,299,655 (GRCm39) |
|
probably null |
Het |
| Haus3 |
T |
A |
5: 34,323,631 (GRCm39) |
E326D |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,691,810 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
A |
19: 36,593,002 (GRCm39) |
D722E |
probably benign |
Het |
| Il20ra |
G |
T |
10: 19,624,960 (GRCm39) |
G80W |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,935,118 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 42,213,618 (GRCm39) |
S65P |
possibly damaging |
Het |
| Lypd2 |
A |
G |
15: 74,606,102 (GRCm39) |
I12T |
probably benign |
Het |
| Nat2 |
T |
A |
8: 67,954,664 (GRCm39) |
L258Q |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,688 (GRCm39) |
|
probably benign |
Het |
| Or2y1b |
T |
A |
11: 49,208,973 (GRCm39) |
V200E |
probably damaging |
Het |
| Or5ac24 |
A |
G |
16: 59,165,135 (GRCm39) |
|
probably benign |
Het |
| Or6c3 |
G |
T |
10: 129,308,843 (GRCm39) |
C94F |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,221,777 (GRCm39) |
D692E |
probably damaging |
Het |
| Prmt8 |
T |
C |
6: 127,706,498 (GRCm39) |
T98A |
probably benign |
Het |
| Rps6kc1 |
C |
A |
1: 190,643,803 (GRCm39) |
E19* |
probably null |
Het |
| Rrp8 |
A |
G |
7: 105,383,598 (GRCm39) |
S223P |
probably benign |
Het |
| Septin10 |
G |
A |
10: 59,006,777 (GRCm39) |
|
probably benign |
Het |
| Serpinb7 |
T |
C |
1: 107,379,741 (GRCm39) |
|
probably benign |
Het |
| Spaca6 |
C |
A |
17: 18,058,667 (GRCm39) |
Q72K |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,233,419 (GRCm39) |
H712R |
probably benign |
Het |
| Spg11 |
C |
A |
2: 121,918,801 (GRCm39) |
A943S |
probably damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,360 (GRCm39) |
S298P |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,565,432 (GRCm39) |
I28265T |
probably damaging |
Het |
| Usp33 |
G |
T |
3: 152,074,233 (GRCm39) |
V360F |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,175,038 (GRCm39) |
T550A |
possibly damaging |
Het |
| Zscan4d |
A |
T |
7: 10,897,070 (GRCm39) |
V128D |
probably damaging |
Het |
|
| Other mutations in Prkcz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Prkcz
|
APN |
4 |
155,378,858 (GRCm39) |
splice site |
probably benign |
|
|
IGL02114:Prkcz
|
APN |
4 |
155,356,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Prkcz
|
APN |
4 |
155,355,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03199:Prkcz
|
APN |
4 |
155,357,441 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03225:Prkcz
|
APN |
4 |
155,352,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03229:Prkcz
|
APN |
4 |
155,346,963 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03299:Prkcz
|
APN |
4 |
155,371,247 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4403001:Prkcz
|
UTSW |
4 |
155,377,613 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0389:Prkcz
|
UTSW |
4 |
155,353,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Prkcz
|
UTSW |
4 |
155,353,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Prkcz
|
UTSW |
4 |
155,374,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Prkcz
|
UTSW |
4 |
155,374,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Prkcz
|
UTSW |
4 |
155,355,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Prkcz
|
UTSW |
4 |
155,346,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Prkcz
|
UTSW |
4 |
155,374,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Prkcz
|
UTSW |
4 |
155,374,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3162:Prkcz
|
UTSW |
4 |
155,374,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4399:Prkcz
|
UTSW |
4 |
155,353,534 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4780:Prkcz
|
UTSW |
4 |
155,374,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Prkcz
|
UTSW |
4 |
155,441,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Prkcz
|
UTSW |
4 |
155,377,689 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5510:Prkcz
|
UTSW |
4 |
155,357,393 (GRCm39) |
splice site |
probably null |
|
|
R6278:Prkcz
|
UTSW |
4 |
155,352,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6290:Prkcz
|
UTSW |
4 |
155,440,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Prkcz
|
UTSW |
4 |
155,353,513 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7055:Prkcz
|
UTSW |
4 |
155,374,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7108:Prkcz
|
UTSW |
4 |
155,371,250 (GRCm39) |
nonsense |
probably null |
|
|
R7241:Prkcz
|
UTSW |
4 |
155,353,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7355:Prkcz
|
UTSW |
4 |
155,441,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Prkcz
|
UTSW |
4 |
155,356,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Prkcz
|
UTSW |
4 |
155,355,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Prkcz
|
UTSW |
4 |
155,346,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Prkcz
|
UTSW |
4 |
155,357,425 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8079:Prkcz
|
UTSW |
4 |
155,441,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Prkcz
|
UTSW |
4 |
155,352,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8523:Prkcz
|
UTSW |
4 |
155,346,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Prkcz
|
UTSW |
4 |
155,429,285 (GRCm39) |
start gained |
probably benign |
|
|
R9753:Prkcz
|
UTSW |
4 |
155,377,659 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0067:Prkcz
|
UTSW |
4 |
155,439,161 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1176:Prkcz
|
UTSW |
4 |
155,440,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Prkcz
|
UTSW |
4 |
155,439,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prkcz
|
UTSW |
4 |
155,385,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation