Incidental Mutation 'R3794:Pkdcc'
ID |
272706 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkdcc
|
Ensembl Gene |
ENSMUSG00000024247 |
Gene Name |
protein kinase domain containing, cytoplasmic |
Synonyms |
MAd1, ESTM17, Vlk, Adtk1 |
MMRRC Submission |
040756-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3794 (G1)
|
Quality Score |
196 |
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% (37/38) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
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 |
Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
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 |
|
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 |
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'- CTTAGAGTACCAGCGCATCC -3'
(R):5'- AAGACCAGCTTCCGACCTAG -3'
Sequencing Primer
(F):5'- ATCCCGGACAGTGCCATC -3'
(R):5'- TCTTCTTGGAGGTAAGACTACTTTC -3'
|
Posted On |
2015-03-25 |