Incidental Mutation 'R2983:Prkcd'
| ID |
257129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkcd
|
| Ensembl Gene |
ENSMUSG00000021948 |
| Gene Name |
protein kinase C, delta |
| Synonyms |
PKC[d], D14Ertd420e, Pkcd, PKCdelta |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.420)
|
| Stock # |
R2983 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30317311-30348167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30321435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 552
(S552L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022521]
[ENSMUST00000112202]
[ENSMUST00000112203]
[ENSMUST00000112206]
[ENSMUST00000112207]
[ENSMUST00000112210]
[ENSMUST00000112211]
|
| AlphaFold |
P28867 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022521
AA Change: S552L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022521
Gene: ENSMUSG00000021948
AA Change: S552L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
100 |
1.28e0 |
SMART |
|
C1
|
159 |
208 |
1.38e-13 |
SMART |
|
C1
|
231 |
280 |
3.19e-18 |
SMART |
|
S_TKc
|
373 |
627 |
1.17e-97 |
SMART |
|
S_TK_X
|
628 |
691 |
8.92e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112202
AA Change: S437L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107821
Gene: ENSMUSG00000021948
AA Change: S437L
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
44 |
93 |
1.38e-13 |
SMART |
|
C1
|
116 |
165 |
3.19e-18 |
SMART |
|
S_TKc
|
258 |
512 |
1.17e-97 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112203
AA Change: S411L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107822
Gene: ENSMUSG00000021948
AA Change: S411L
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
44 |
93 |
1.38e-13 |
SMART |
|
C1
|
116 |
165 |
3.19e-18 |
SMART |
|
S_TKc
|
232 |
486 |
1.17e-97 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112206
AA Change: S437L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107825
Gene: ENSMUSG00000021948
AA Change: S437L
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
44 |
93 |
1.38e-13 |
SMART |
|
C1
|
116 |
165 |
3.19e-18 |
SMART |
|
S_TKc
|
258 |
512 |
1.17e-97 |
SMART |
|
S_TK_X
|
513 |
576 |
8.92e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112207
AA Change: S411L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107826
Gene: ENSMUSG00000021948
AA Change: S411L
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
44 |
93 |
1.38e-13 |
SMART |
|
C1
|
116 |
165 |
3.19e-18 |
SMART |
|
S_TKc
|
232 |
486 |
1.17e-97 |
SMART |
|
S_TK_X
|
487 |
550 |
8.92e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112208
AA Change: S526L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107827
Gene: ENSMUSG00000021948
AA Change: S526L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
100 |
1.28e0 |
SMART |
|
C1
|
159 |
208 |
1.38e-13 |
SMART |
|
C1
|
231 |
280 |
3.19e-18 |
SMART |
|
S_TKc
|
347 |
601 |
1.17e-97 |
SMART |
|
S_TK_X
|
602 |
665 |
8.92e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112210
AA Change: S526L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107829
Gene: ENSMUSG00000021948
AA Change: S526L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
100 |
1.28e0 |
SMART |
|
C1
|
159 |
208 |
1.38e-13 |
SMART |
|
C1
|
231 |
280 |
3.19e-18 |
SMART |
|
S_TKc
|
347 |
601 |
1.17e-97 |
SMART |
|
S_TK_X
|
602 |
665 |
8.92e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112211
AA Change: S552L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107830
Gene: ENSMUSG00000021948
AA Change: S552L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
11 |
100 |
1.28e0 |
SMART |
|
C1
|
159 |
208 |
1.38e-13 |
SMART |
|
C1
|
231 |
280 |
3.19e-18 |
SMART |
|
S_TKc
|
373 |
627 |
1.17e-97 |
SMART |
|
S_TK_X
|
628 |
691 |
8.92e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140701
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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 distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased neutrophil cell numbers and activity, increased B cell numbers and proliferation, increased acute inflammation, and increased IgG1 and IgA serum levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,784 (GRCm39) |
D347G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,867,774 (GRCm39) |
K124E |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,975,241 (GRCm39) |
V1607A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,882,250 (GRCm38) |
V317E |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Kmt2c |
AGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTG |
5: 25,520,755 (GRCm39) |
|
probably benign |
Het |
| Ncs1 |
C |
T |
2: 31,174,708 (GRCm39) |
T144I |
probably damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or5k16 |
T |
A |
16: 58,736,930 (GRCm39) |
T25S |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,824,574 (GRCm39) |
S503T |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,789 (GRCm39) |
V1044A |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,792,927 (GRCm39) |
H60R |
probably benign |
Het |
| Rccd1 |
G |
A |
7: 79,970,276 (GRCm39) |
Q114* |
probably null |
Het |
| Speg |
T |
C |
1: 75,361,574 (GRCm39) |
V90A |
possibly damaging |
Het |
| St8sia1 |
A |
G |
6: 142,909,355 (GRCm39) |
V47A |
probably damaging |
Het |
| Tex264 |
A |
G |
9: 106,559,296 (GRCm39) |
I10T |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,596 (GRCm39) |
T4I |
probably benign |
Het |
|
| Other mutations in Prkcd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Prkcd
|
APN |
14 |
30,324,379 (GRCm39) |
splice site |
probably benign |
|
|
IGL00715:Prkcd
|
APN |
14 |
30,317,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01914:Prkcd
|
APN |
14 |
30,329,383 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02177:Prkcd
|
APN |
14 |
30,327,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Prkcd
|
APN |
14 |
30,321,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02681:Prkcd
|
APN |
14 |
30,323,190 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Rigged
|
UTSW |
14 |
30,332,258 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
rigged2
|
UTSW |
14 |
30,321,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03014:Prkcd
|
UTSW |
14 |
30,329,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Prkcd
|
UTSW |
14 |
30,324,045 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0240:Prkcd
|
UTSW |
14 |
30,324,045 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1385:Prkcd
|
UTSW |
14 |
30,329,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Prkcd
|
UTSW |
14 |
30,329,405 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2114:Prkcd
|
UTSW |
14 |
30,327,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Prkcd
|
UTSW |
14 |
30,321,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4162:Prkcd
|
UTSW |
14 |
30,323,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4164:Prkcd
|
UTSW |
14 |
30,323,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4180:Prkcd
|
UTSW |
14 |
30,332,261 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4637:Prkcd
|
UTSW |
14 |
30,320,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4750:Prkcd
|
UTSW |
14 |
30,332,258 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4756:Prkcd
|
UTSW |
14 |
30,321,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4849:Prkcd
|
UTSW |
14 |
30,321,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Prkcd
|
UTSW |
14 |
30,321,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Prkcd
|
UTSW |
14 |
30,321,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Prkcd
|
UTSW |
14 |
30,327,395 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4925:Prkcd
|
UTSW |
14 |
30,329,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5644:Prkcd
|
UTSW |
14 |
30,329,370 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5832:Prkcd
|
UTSW |
14 |
30,327,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5910:Prkcd
|
UTSW |
14 |
30,317,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6049:Prkcd
|
UTSW |
14 |
30,329,254 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6322:Prkcd
|
UTSW |
14 |
30,321,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Prkcd
|
UTSW |
14 |
30,321,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Prkcd
|
UTSW |
14 |
30,327,793 (GRCm39) |
missense |
probably benign |
|
|
R7494:Prkcd
|
UTSW |
14 |
30,331,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7554:Prkcd
|
UTSW |
14 |
30,331,220 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7778:Prkcd
|
UTSW |
14 |
30,327,772 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7810:Prkcd
|
UTSW |
14 |
30,320,407 (GRCm39) |
splice site |
probably null |
|
|
R8020:Prkcd
|
UTSW |
14 |
30,331,201 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8145:Prkcd
|
UTSW |
14 |
30,324,019 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8417:Prkcd
|
UTSW |
14 |
30,331,208 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9009:Prkcd
|
UTSW |
14 |
30,329,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9246:Prkcd
|
UTSW |
14 |
30,327,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9528:Prkcd
|
UTSW |
14 |
30,323,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Prkcd
|
UTSW |
14 |
30,320,800 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9783:Prkcd
|
UTSW |
14 |
30,321,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Prkcd
|
UTSW |
14 |
30,332,206 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCCCCAAGGTATGCAC -3'
(R):5'- CTGACTTTGGGATGTGCAAAG -3'
Sequencing Primer
(F):5'- TATGCACCAGCCAGGCCTC -3'
(R):5'- AATATATTTGGGGAGGGCCG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation