Incidental Mutation 'R4364:Prkce'
| ID |
325688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkce
|
| Ensembl Gene |
ENSMUSG00000045038 |
| Gene Name |
protein kinase C, epsilon |
| Synonyms |
PKCepsilon, PCK epsilon, Pkce, PKC[e], 5830406C15Rik |
| MMRRC Submission |
041672-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
86475213-86965347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86784279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 218
(T218I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097274]
[ENSMUST00000097275]
|
| AlphaFold |
P16054 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097274
AA Change: T218I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000094873
Gene: ENSMUSG00000045038
AA Change: T218I
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
7 |
114 |
5.78e-12 |
SMART |
|
C1
|
170 |
220 |
4.48e-13 |
SMART |
|
C1
|
243 |
292 |
8.29e-17 |
SMART |
|
S_TKc
|
408 |
668 |
1.3e-104 |
SMART |
|
S_TK_X
|
669 |
732 |
2.56e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097275
AA Change: T218I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000094874
Gene: ENSMUSG00000045038
AA Change: T218I
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
7 |
114 |
5.78e-12 |
SMART |
|
C1
|
170 |
220 |
4.48e-13 |
SMART |
|
C1
|
243 |
292 |
8.29e-17 |
SMART |
|
S_TKc
|
408 |
668 |
1.3e-104 |
SMART |
|
S_TK_X
|
669 |
732 |
2.56e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.4592 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (40/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced ethanol self-administration and are more sensitive to the acute behavioral effects of ethanol and other drugs that activate GABA(A) receptors. Mutants show reduced anxiety and stress hormones. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn |
A |
C |
12: 111,238,196 (GRCm39) |
N37H |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,827 (GRCm39) |
D301V |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,812,128 (GRCm39) |
E691G |
probably benign |
Het |
| Ccer1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
10: 97,530,232 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,891,056 (GRCm39) |
V396A |
probably damaging |
Het |
| Dhx35 |
C |
T |
2: 158,684,272 (GRCm39) |
Q516* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,812 (GRCm39) |
K1413R |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,494,391 (GRCm39) |
H856R |
possibly damaging |
Het |
| Eif4e2 |
T |
C |
1: 87,152,093 (GRCm39) |
F97L |
probably benign |
Het |
| Exoc6b |
A |
T |
6: 84,980,161 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,405,999 (GRCm39) |
S917T |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,831,488 (GRCm39) |
Y2043N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,154 (GRCm39) |
I312T |
probably damaging |
Het |
| Glipr1 |
T |
C |
10: 111,821,542 (GRCm39) |
N220S |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 34,667,989 (GRCm39) |
E172G |
probably benign |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,513,014 (GRCm39) |
H165L |
probably damaging |
Het |
| Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
| Lcn10 |
G |
T |
2: 25,574,052 (GRCm39) |
C85F |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Or4d10 |
A |
G |
19: 12,051,861 (GRCm39) |
V45A |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,985 (GRCm39) |
V127M |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,082,294 (GRCm39) |
T445P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,899,136 (GRCm39) |
L428P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,303,987 (GRCm39) |
V789A |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,477 (GRCm39) |
V112M |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,468,774 (GRCm39) |
I51V |
probably benign |
Het |
| Ttll1 |
T |
A |
15: 83,384,195 (GRCm39) |
Q144L |
probably damaging |
Het |
|
| Other mutations in Prkce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Prkce
|
APN |
17 |
86,932,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01401:Prkce
|
APN |
17 |
86,476,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01508:Prkce
|
APN |
17 |
86,937,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02500:Prkce
|
APN |
17 |
86,476,342 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02957:Prkce
|
APN |
17 |
86,803,454 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03114:Prkce
|
APN |
17 |
86,961,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Pinnacles
|
UTSW |
17 |
86,784,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Prkce
|
UTSW |
17 |
86,789,539 (GRCm39) |
splice site |
probably benign |
|
|
R0063:Prkce
|
UTSW |
17 |
86,789,539 (GRCm39) |
splice site |
probably benign |
|
|
R0403:Prkce
|
UTSW |
17 |
86,476,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0900:Prkce
|
UTSW |
17 |
86,932,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Prkce
|
UTSW |
17 |
86,937,588 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1413:Prkce
|
UTSW |
17 |
86,803,446 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1430:Prkce
|
UTSW |
17 |
86,866,565 (GRCm39) |
splice site |
probably benign |
|
|
R1843:Prkce
|
UTSW |
17 |
86,782,974 (GRCm39) |
nonsense |
probably null |
|
|
R2129:Prkce
|
UTSW |
17 |
86,803,463 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2341:Prkce
|
UTSW |
17 |
86,781,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Prkce
|
UTSW |
17 |
86,932,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Prkce
|
UTSW |
17 |
86,483,654 (GRCm39) |
intron |
probably benign |
|
|
R3724:Prkce
|
UTSW |
17 |
86,476,051 (GRCm39) |
nonsense |
probably null |
|
|
R3853:Prkce
|
UTSW |
17 |
86,476,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4467:Prkce
|
UTSW |
17 |
86,927,339 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4523:Prkce
|
UTSW |
17 |
86,798,178 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4838:Prkce
|
UTSW |
17 |
86,937,511 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5140:Prkce
|
UTSW |
17 |
86,789,570 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5579:Prkce
|
UTSW |
17 |
86,927,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6026:Prkce
|
UTSW |
17 |
86,800,658 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6048:Prkce
|
UTSW |
17 |
86,800,775 (GRCm39) |
missense |
probably benign |
|
|
R6212:Prkce
|
UTSW |
17 |
86,866,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6484:Prkce
|
UTSW |
17 |
86,798,237 (GRCm39) |
missense |
probably benign |
|
|
R6788:Prkce
|
UTSW |
17 |
86,937,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Prkce
|
UTSW |
17 |
86,800,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Prkce
|
UTSW |
17 |
86,800,783 (GRCm39) |
missense |
probably benign |
|
|
R7447:Prkce
|
UTSW |
17 |
86,866,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Prkce
|
UTSW |
17 |
86,800,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7577:Prkce
|
UTSW |
17 |
86,800,721 (GRCm39) |
nonsense |
probably null |
|
|
R7638:Prkce
|
UTSW |
17 |
86,476,028 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8237:Prkce
|
UTSW |
17 |
86,866,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Prkce
|
UTSW |
17 |
86,795,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8869:Prkce
|
UTSW |
17 |
86,476,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9342:Prkce
|
UTSW |
17 |
86,781,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF010:Prkce
|
UTSW |
17 |
86,795,627 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCCATTTAGGTTCGGACATTG -3'
(R):5'- AATCGATGATGCTTAAGCCAGC -3'
Sequencing Primer
(F):5'- TTTAGGTTCGGACATTGACAGAAAG -3'
(R):5'- GAGCCAACTCCCTTCATTTTTG -3'
|
| Genotyping |
Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation. PCR Primers
R43640043_PCR_F: 5’- GCATCCATTTAGGTTCGGACATTG-3’
R43640043_PCR_R: 5’- AATCGATGATGCTTAAGCCAGC-3’ Sequencing Primers
R43640043_SEQ_F: 5’- TTTAGGTTCGGACATTGACAGAAAG-3’
R43640043_SEQ_R: 5’- GAGCCAACTCCCTTCATTTTTG-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 400 nucleotides is amplified (NCBI RefSeq: NC_000083, chromosome 17:86476669-86477068): gcatccattt aggttcggac attgacagaa agggcacagc tctggtcgtg tctccaccga
gacctgatta gatctcgggg tgggatctgg ctggccctgg tcatcattca agcttcttct
gtttttgtcc ttgacagttt gcacttgcgt tgtccacaag cgatgtcatg agctcattat
tacaaagtgc gctgggctga agaaacagga aacccctgac gaggtaaata tttacagtga
tggaattctg tgccctcttc cttatcagcc tctcccttgt ctgcccctga tgtaaccccc
acgggagcct tatctctctg agctcctgaa gttgtcttca ttgtgttgag caaaaatgaa
gggagttggc tcctgcctgc tggcttaagc atcatcgatt Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = C>T).
|
| Posted On |
2015-07-06 |
Incidental Mutation