Incidental Mutation 'R3795:Pkdcc'
ID |
272743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkdcc
|
Ensembl Gene |
ENSMUSG00000024247 |
Gene Name |
protein kinase domain containing, cytoplasmic |
Synonyms |
MAd1, ESTM17, Vlk, Adtk1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3795 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
83522721-83532499 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83531382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 464
(T464A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170794]
|
AlphaFold |
Q5RJI4 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166528
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168118
|
Predicted Effect |
unknown
Transcript: ENSMUST00000170758
AA Change: T199A
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170794
AA Change: T464A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129238 Gene: ENSMUSG00000024247 AA Change: T464A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
28 |
55 |
N/A |
INTRINSIC |
low complexity region
|
72 |
86 |
N/A |
INTRINSIC |
low complexity region
|
92 |
128 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
139 |
321 |
1.3e-5 |
PFAM |
Pfam:PIP49_C
|
196 |
373 |
3.8e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.2454 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (32/33) |
MGI Phenotype |
PHENOTYPE: Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
Adh1 |
T |
A |
3: 137,985,526 (GRCm39) |
L18H |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,084,714 (GRCm39) |
T426A |
probably benign |
Het |
Capn13 |
C |
A |
17: 73,644,387 (GRCm39) |
V381L |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,778,735 (GRCm39) |
|
probably benign |
Het |
Cmas |
T |
A |
6: 142,713,594 (GRCm39) |
D206E |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,077,590 (GRCm39) |
E1084G |
probably damaging |
Het |
Cpz |
A |
G |
5: 35,669,093 (GRCm39) |
V346A |
probably benign |
Het |
Dhrs3 |
A |
G |
4: 144,645,962 (GRCm39) |
D116G |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,624,501 (GRCm39) |
E844G |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
Lhx2 |
T |
C |
2: 38,243,359 (GRCm39) |
C12R |
probably damaging |
Het |
Map3k2 |
T |
C |
18: 32,359,701 (GRCm39) |
M518T |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,293,793 (GRCm39) |
|
probably benign |
Het |
Nlrp4e |
T |
A |
7: 23,020,228 (GRCm39) |
D238E |
probably benign |
Het |
Obscn |
A |
G |
11: 58,922,667 (GRCm39) |
Y6543H |
probably damaging |
Het |
Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
Psg20 |
A |
G |
7: 18,418,374 (GRCm39) |
V131A |
probably benign |
Het |
Ptpro |
T |
C |
6: 137,357,307 (GRCm39) |
F266S |
probably benign |
Het |
S100a7l2 |
T |
C |
3: 90,995,730 (GRCm39) |
I57M |
possibly damaging |
Het |
Sdk2 |
G |
A |
11: 113,747,522 (GRCm39) |
R663* |
probably null |
Het |
Szt2 |
G |
T |
4: 118,248,927 (GRCm39) |
L586I |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,163,197 (GRCm39) |
I1113V |
probably damaging |
Het |
Ube2ql1 |
G |
T |
13: 69,852,231 (GRCm39) |
A282E |
possibly damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,771,851 (GRCm39) |
M617L |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,085,466 (GRCm39) |
V676A |
probably damaging |
Het |
Wdr47 |
T |
C |
3: 108,532,053 (GRCm39) |
|
probably null |
Het |
Zbp1 |
T |
C |
2: 173,053,972 (GRCm39) |
H183R |
probably benign |
Het |
Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
Zfp988 |
G |
A |
4: 147,416,040 (GRCm39) |
R158Q |
possibly damaging |
Het |
|
Other mutations in Pkdcc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01897:Pkdcc
|
APN |
17 |
83,527,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02517:Pkdcc
|
APN |
17 |
83,531,295 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4791001:Pkdcc
|
UTSW |
17 |
83,527,577 (GRCm39) |
nonsense |
probably null |
|
R0180:Pkdcc
|
UTSW |
17 |
83,529,299 (GRCm39) |
critical splice donor site |
probably null |
|
R0321:Pkdcc
|
UTSW |
17 |
83,529,541 (GRCm39) |
splice site |
probably benign |
|
R0559:Pkdcc
|
UTSW |
17 |
83,523,454 (GRCm39) |
missense |
probably benign |
0.00 |
R0799:Pkdcc
|
UTSW |
17 |
83,531,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R1512:Pkdcc
|
UTSW |
17 |
83,527,473 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2484:Pkdcc
|
UTSW |
17 |
83,529,667 (GRCm39) |
splice site |
probably benign |
|
R2916:Pkdcc
|
UTSW |
17 |
83,523,378 (GRCm39) |
missense |
probably benign |
0.00 |
R2918:Pkdcc
|
UTSW |
17 |
83,523,378 (GRCm39) |
missense |
probably benign |
0.00 |
R3120:Pkdcc
|
UTSW |
17 |
83,527,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R3794:Pkdcc
|
UTSW |
17 |
83,531,382 (GRCm39) |
missense |
probably damaging |
0.97 |
R4433:Pkdcc
|
UTSW |
17 |
83,528,570 (GRCm39) |
missense |
probably benign |
0.02 |
R4689:Pkdcc
|
UTSW |
17 |
83,523,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R5239:Pkdcc
|
UTSW |
17 |
83,523,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Pkdcc
|
UTSW |
17 |
83,527,511 (GRCm39) |
missense |
probably damaging |
0.96 |
R5654:Pkdcc
|
UTSW |
17 |
83,523,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R5739:Pkdcc
|
UTSW |
17 |
83,523,223 (GRCm39) |
missense |
probably benign |
0.44 |
R6456:Pkdcc
|
UTSW |
17 |
83,527,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Pkdcc
|
UTSW |
17 |
83,531,687 (GRCm39) |
missense |
probably damaging |
0.97 |
R7050:Pkdcc
|
UTSW |
17 |
83,523,073 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8557:Pkdcc
|
UTSW |
17 |
83,528,495 (GRCm39) |
missense |
probably benign |
0.02 |
R8833:Pkdcc
|
UTSW |
17 |
83,531,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R9104:Pkdcc
|
UTSW |
17 |
83,528,471 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Pkdcc
|
UTSW |
17 |
83,529,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTTAGAGTACCAGCGCATC -3'
(R):5'- AAGACCAGCTTCCGACCTAG -3'
Sequencing Primer
(F):5'- ATCCCGGACAGTGCCATC -3'
(R):5'- TCTTCTTGGAGGTAAGACTACTTTC -3'
|
Posted On |
2015-03-25 |