Incidental Mutation 'R2916:Pkdcc'
| ID |
254892 |
| 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 # |
R2916 (G1)
|
| Quality Score |
178 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
83522721-83532499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 83523378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 162
(A162P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170794]
|
| AlphaFold |
Q5RJI4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166528
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170794
AA Change: A162P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: A162P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa13 |
T |
C |
15: 58,208,476 (GRCm39) |
|
noncoding transcript |
Het |
| Brd7 |
A |
G |
8: 89,069,408 (GRCm39) |
I429T |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,932,031 (GRCm39) |
M124V |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,411,256 (GRCm39) |
D468G |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,134,071 (GRCm39) |
F404S |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,054,920 (GRCm39) |
S776P |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Il17re |
G |
A |
6: 113,442,989 (GRCm39) |
|
probably null |
Het |
| Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
| Nudt9 |
C |
A |
5: 104,203,424 (GRCm39) |
A121E |
probably damaging |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
| Rps24 |
T |
C |
14: 24,542,009 (GRCm39) |
V23A |
probably benign |
Het |
| Six3 |
A |
T |
17: 85,929,061 (GRCm39) |
I132F |
probably benign |
Het |
| Srsf12 |
C |
T |
4: 33,231,042 (GRCm39) |
R179* |
probably null |
Het |
| Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
probably 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 |
|
|
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 |
|
R3795: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'- AGGAGGTGCAGCGCTATTC -3'
(R):5'- ACTGTCGTACCTGCAGCAC -3'
Sequencing Primer
(F):5'- TGATGGACCTGGCTCCG -3'
(R):5'- TACCTGCAGCACGTTGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation