Incidental Mutation 'R3788:Prkcg'
| ID |
272374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkcg
|
| Ensembl Gene |
ENSMUSG00000078816 |
| Gene Name |
protein kinase C, gamma |
| Synonyms |
PKCgamma, Prkcc, Pkcc |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3352038-3379615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3362263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 246
(D246N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100301]
[ENSMUST00000172109]
|
| AlphaFold |
P63318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100301
AA Change: D246N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097874
Gene: ENSMUSG00000078816
AA Change: D246N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
C1
|
36 |
85 |
2.89e-16 |
SMART |
|
C1
|
101 |
150 |
2.27e-14 |
SMART |
|
C2
|
172 |
275 |
1.35e-26 |
SMART |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
S_TKc
|
351 |
614 |
1.37e-94 |
SMART |
|
S_TK_X
|
615 |
677 |
1.77e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172109
AA Change: D246N
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131351
Gene: ENSMUSG00000078816
AA Change: D246N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
C1
|
36 |
85 |
2.89e-16 |
SMART |
|
C1
|
101 |
150 |
2.27e-14 |
SMART |
|
C2
|
172 |
275 |
1.35e-26 |
SMART |
|
S_TKc
|
309 |
563 |
2.73e-80 |
SMART |
|
S_TK_X
|
564 |
626 |
1.77e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203081
|
| Meta Mutation Damage Score |
0.4537 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (61/61) |
| 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 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 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 distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Depending upon genetic background, homozygous null mice show mild deficits in spatial learning and contextual conditioning. Genotype-dependent reductions in sensitivity to the effects of ethanol on righting reflex and hypothermia, in neuropathic pain after injury, and in anxiety are also evident. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,846,561 (GRCm39) |
V26E |
possibly damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,351,901 (GRCm39) |
|
probably null |
Het |
| Aph1b |
T |
C |
9: 66,701,348 (GRCm39) |
|
probably benign |
Het |
| Aspm |
C |
T |
1: 139,390,941 (GRCm39) |
T742I |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,179,123 (GRCm39) |
|
probably null |
Het |
| Cemip |
A |
T |
7: 83,593,106 (GRCm39) |
L1199H |
probably damaging |
Het |
| Chd2 |
G |
A |
7: 73,096,878 (GRCm39) |
|
probably benign |
Het |
| Clnk |
A |
G |
5: 38,872,341 (GRCm39) |
Y310H |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,441,484 (GRCm39) |
D522G |
probably damaging |
Het |
| Cyth3 |
A |
G |
5: 143,622,298 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,195,754 (GRCm39) |
Y392N |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,454,056 (GRCm39) |
F1820L |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,119,322 (GRCm39) |
R385* |
probably null |
Het |
| Gpatch3 |
C |
A |
4: 133,302,479 (GRCm39) |
R137S |
possibly damaging |
Het |
| Gpc6 |
C |
T |
14: 117,861,878 (GRCm39) |
P265S |
probably damaging |
Het |
| Harbi1 |
T |
A |
2: 91,550,952 (GRCm39) |
D308E |
probably benign |
Het |
| Hdhd2 |
G |
A |
18: 77,042,883 (GRCm39) |
|
probably null |
Het |
| Hk1 |
T |
C |
10: 62,111,467 (GRCm39) |
K737E |
possibly damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,063,624 (GRCm39) |
V345M |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,380,459 (GRCm39) |
|
probably null |
Het |
| Kalrn |
T |
C |
16: 34,040,610 (GRCm39) |
H944R |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,401,833 (GRCm39) |
C207S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt75 |
C |
T |
15: 101,481,956 (GRCm39) |
G104D |
possibly damaging |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
| Marchf10 |
T |
A |
11: 105,287,905 (GRCm39) |
L132F |
probably damaging |
Het |
| Mfrp |
G |
A |
9: 44,016,754 (GRCm39) |
W65* |
probably null |
Het |
| Mgat5 |
A |
G |
1: 127,294,180 (GRCm39) |
D174G |
probably benign |
Het |
| Miga2 |
T |
A |
2: 30,261,237 (GRCm39) |
Y177* |
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,113,213 (GRCm39) |
D747G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,571 (GRCm39) |
T3506A |
possibly damaging |
Het |
| Myo7b |
G |
T |
18: 32,107,165 (GRCm39) |
P1277T |
possibly damaging |
Het |
| Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
| Ndufs2 |
T |
C |
1: 171,062,889 (GRCm39) |
D410G |
possibly damaging |
Het |
| Or51a25 |
A |
G |
7: 102,372,694 (GRCm39) |
|
probably null |
Het |
| Or5p78 |
T |
A |
7: 108,212,280 (GRCm39) |
Y255* |
probably null |
Het |
| Or7e177 |
A |
G |
9: 20,211,666 (GRCm39) |
I58V |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,381,365 (GRCm39) |
I219T |
probably benign |
Het |
| Osbp |
A |
T |
19: 11,956,285 (GRCm39) |
Y409F |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sbf1 |
G |
A |
15: 89,183,731 (GRCm39) |
R1261* |
probably null |
Het |
| Scn4a |
T |
C |
11: 106,235,100 (GRCm39) |
N341S |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,884,436 (GRCm39) |
|
probably null |
Het |
| Sgcd |
T |
A |
11: 47,246,032 (GRCm39) |
K57* |
probably null |
Het |
| Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,835,695 (GRCm39) |
L861P |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 44,909,386 (GRCm39) |
D184G |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,632,639 (GRCm39) |
|
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,795,950 (GRCm39) |
I1710V |
probably damaging |
Het |
| Sytl2 |
A |
T |
7: 90,025,289 (GRCm39) |
I426F |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,689,628 (GRCm39) |
D496Y |
possibly damaging |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,775,618 (GRCm39) |
E1854G |
unknown |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,300,887 (GRCm39) |
T630S |
probably benign |
Het |
| Xrcc1 |
G |
C |
7: 24,266,333 (GRCm39) |
A220P |
probably benign |
Het |
|
| Other mutations in Prkcg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01449:Prkcg
|
APN |
7 |
3,368,135 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01551:Prkcg
|
APN |
7 |
3,352,342 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02167:Prkcg
|
APN |
7 |
3,371,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02434:Prkcg
|
APN |
7 |
3,367,406 (GRCm39) |
missense |
probably benign |
|
|
R0044:Prkcg
|
UTSW |
7 |
3,363,517 (GRCm39) |
intron |
probably benign |
|
|
R0164:Prkcg
|
UTSW |
7 |
3,377,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Prkcg
|
UTSW |
7 |
3,377,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Prkcg
|
UTSW |
7 |
3,368,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0417:Prkcg
|
UTSW |
7 |
3,352,820 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1113:Prkcg
|
UTSW |
7 |
3,377,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Prkcg
|
UTSW |
7 |
3,368,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1308:Prkcg
|
UTSW |
7 |
3,377,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Prkcg
|
UTSW |
7 |
3,371,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Prkcg
|
UTSW |
7 |
3,353,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Prkcg
|
UTSW |
7 |
3,372,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2209:Prkcg
|
UTSW |
7 |
3,352,097 (GRCm39) |
unclassified |
probably benign |
|
|
R4006:Prkcg
|
UTSW |
7 |
3,375,983 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4853:Prkcg
|
UTSW |
7 |
3,367,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4915:Prkcg
|
UTSW |
7 |
3,378,781 (GRCm39) |
nonsense |
probably null |
|
|
R4916:Prkcg
|
UTSW |
7 |
3,378,781 (GRCm39) |
nonsense |
probably null |
|
|
R4997:Prkcg
|
UTSW |
7 |
3,371,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5446:Prkcg
|
UTSW |
7 |
3,378,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5646:Prkcg
|
UTSW |
7 |
3,377,597 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5677:Prkcg
|
UTSW |
7 |
3,371,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Prkcg
|
UTSW |
7 |
3,362,335 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7355:Prkcg
|
UTSW |
7 |
3,372,025 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7371:Prkcg
|
UTSW |
7 |
3,368,069 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7544:Prkcg
|
UTSW |
7 |
3,359,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7649:Prkcg
|
UTSW |
7 |
3,378,480 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7742:Prkcg
|
UTSW |
7 |
3,378,459 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8009:Prkcg
|
UTSW |
7 |
3,362,708 (GRCm39) |
missense |
probably benign |
|
|
R8074:Prkcg
|
UTSW |
7 |
3,372,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Prkcg
|
UTSW |
7 |
3,377,580 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8344:Prkcg
|
UTSW |
7 |
3,378,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Prkcg
|
UTSW |
7 |
3,370,857 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9343:Prkcg
|
UTSW |
7 |
3,359,124 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9426:Prkcg
|
UTSW |
7 |
3,375,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9530:Prkcg
|
UTSW |
7 |
3,375,965 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9605:Prkcg
|
UTSW |
7 |
3,359,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGAGAAGGGGCCAAGAATTTG -3'
(R):5'- GGAGGCTATGCTGGAAGGT -3'
Sequencing Primer
(F):5'- AGGGAGCTTGTGGTAGTTATAATCC -3'
(R):5'- GGCTATGCTGGAAGGTTAAAGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation