Incidental Mutation 'R4399:Prkcz'
| ID |
325626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkcz
|
| Ensembl Gene |
ENSMUSG00000029053 |
| Gene Name |
protein kinase C, zeta |
| Synonyms |
aPKCzeta, zetaPKC, Pkcz |
| MMRRC Submission |
041686-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4399 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155344586-155445818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155353534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 454
(I454N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030922]
[ENSMUST00000103178]
|
| AlphaFold |
Q02956 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030922
AA Change: I454N
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: I454N
| 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 |
possibly damaging
Transcript: ENSMUST00000103178
AA Change: I271N
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: I271N
| 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 |
noncoding transcript
Transcript: ENSMUST00000135699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140256
|
| Meta Mutation Damage Score |
0.5671 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,827,211 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,652,031 (GRCm39) |
N612S |
probably benign |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,429,900 (GRCm39) |
A674V |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,238 (GRCm39) |
H1992R |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,724 (GRCm39) |
K597E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,164 (GRCm39) |
M1919L |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,198,559 (GRCm39) |
V788I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,886 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Foxred2 |
A |
C |
15: 77,837,558 (GRCm39) |
V226G |
possibly damaging |
Het |
| Foxred2 |
T |
C |
15: 77,839,880 (GRCm39) |
I137V |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,516 (GRCm39) |
N430K |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,740,126 (GRCm39) |
|
probably benign |
Het |
| Ibsp |
T |
A |
5: 104,457,148 (GRCm39) |
S86T |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,694 (GRCm39) |
S34T |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,484 (GRCm39) |
Y572* |
probably null |
Het |
| Mup18 |
C |
T |
4: 61,590,866 (GRCm39) |
G97D |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,242 (GRCm39) |
N303I |
probably benign |
Het |
| Or1p1 |
A |
G |
11: 74,179,682 (GRCm39) |
D70G |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4k40 |
T |
G |
2: 111,251,144 (GRCm39) |
I51L |
probably benign |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,842,563 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,777,189 (GRCm39) |
S323T |
probably benign |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Setd1b |
C |
T |
5: 123,299,861 (GRCm39) |
|
probably benign |
Het |
| Sh2d3c |
G |
A |
2: 32,636,172 (GRCm39) |
G332D |
probably damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,243,007 (GRCm39) |
E276G |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,121,791 (GRCm39) |
F73L |
possibly damaging |
Het |
| Sstr3 |
T |
G |
15: 78,424,324 (GRCm39) |
D141A |
probably damaging |
Het |
| St8sia5 |
T |
C |
18: 77,340,714 (GRCm39) |
C191R |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,269,538 (GRCm39) |
N230S |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,060,872 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
A |
G |
19: 5,133,099 (GRCm39) |
S36P |
probably damaging |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,476 (GRCm39) |
T247A |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,834 (GRCm39) |
S304P |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
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 |
|
IGL03010:Prkcz
|
APN |
4 |
155,371,262 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCTGCCAGAGGAATGGG -3'
(R):5'- CACAGCTTCTGAGGACACAGATG -3'
Sequencing Primer
(F):5'- CCAGAGGAATGGGTTCGTG -3'
(R):5'- GATGTCCAGCACAGCGACTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation