Incidental Mutation 'R3120:Pkdcc'
ID |
263200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkdcc
|
Ensembl Gene |
ENSMUSG00000024247 |
Gene Name |
protein kinase domain containing, cytoplasmic |
Synonyms |
MAd1, ESTM17, Vlk, Adtk1 |
MMRRC Submission |
040593-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3120 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
83522721-83532499 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83527466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 215
(Y215H)
|
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 |
probably benign
Transcript: ENSMUST00000170758
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170794
AA Change: Y215H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129238 Gene: ENSMUSG00000024247 AA Change: Y215H
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bsx |
A |
G |
9: 40,788,908 (GRCm39) |
K155R |
possibly damaging |
Het |
Ccdc39 |
T |
C |
3: 33,891,987 (GRCm39) |
K162E |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dnah1 |
G |
A |
14: 30,988,779 (GRCm39) |
R3351* |
probably null |
Het |
Eml1 |
A |
G |
12: 108,479,312 (GRCm39) |
R362G |
probably benign |
Het |
Fam222b |
T |
C |
11: 78,044,742 (GRCm39) |
L101P |
probably damaging |
Het |
Fars2 |
A |
G |
13: 36,430,400 (GRCm39) |
E276G |
probably damaging |
Het |
Gatad1 |
G |
T |
5: 3,691,456 (GRCm39) |
Y33* |
probably null |
Het |
Gclc |
A |
C |
9: 77,688,552 (GRCm39) |
E219A |
possibly damaging |
Het |
Gm4846 |
A |
G |
1: 166,319,117 (GRCm39) |
V207A |
probably benign |
Het |
H1f5 |
A |
T |
13: 21,964,215 (GRCm39) |
S170R |
probably benign |
Het |
Hbq1a |
T |
C |
11: 32,250,472 (GRCm39) |
L87P |
probably damaging |
Het |
Magea6 |
A |
T |
X: 153,707,291 (GRCm39) |
I255N |
probably benign |
Het |
Mfsd12 |
T |
G |
10: 81,197,049 (GRCm39) |
V206G |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,203,762 (GRCm39) |
|
probably null |
Het |
Nf1 |
C |
A |
11: 79,455,725 (GRCm39) |
T550K |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,342,530 (GRCm39) |
T372A |
probably benign |
Het |
Or5p70 |
T |
C |
7: 107,994,930 (GRCm39) |
I201T |
possibly damaging |
Het |
Plekha5 |
A |
G |
6: 140,537,367 (GRCm39) |
T253A |
probably benign |
Het |
Polr2f |
T |
A |
15: 79,028,788 (GRCm39) |
|
probably null |
Het |
Prph2 |
C |
T |
17: 47,234,298 (GRCm39) |
A289V |
possibly damaging |
Het |
Ptdss2 |
C |
T |
7: 140,732,132 (GRCm39) |
H140Y |
probably damaging |
Het |
Rlf |
T |
A |
4: 121,006,680 (GRCm39) |
I877L |
probably benign |
Het |
Scgb2b2 |
T |
C |
7: 31,003,001 (GRCm39) |
L32S |
possibly damaging |
Het |
Sfpq |
T |
A |
4: 126,915,926 (GRCm39) |
H239Q |
unknown |
Het |
St6gal2 |
A |
T |
17: 55,789,111 (GRCm39) |
R48S |
probably benign |
Het |
Sybu |
T |
C |
15: 44,536,355 (GRCm39) |
D657G |
possibly damaging |
Het |
Syt15 |
A |
G |
14: 33,944,950 (GRCm39) |
I166V |
probably benign |
Het |
Taar7f |
C |
A |
10: 23,925,478 (GRCm39) |
T24K |
probably benign |
Het |
Tbcd |
T |
C |
11: 121,499,474 (GRCm39) |
S1093P |
probably damaging |
Het |
Tfap2c |
G |
A |
2: 172,399,015 (GRCm39) |
V396M |
possibly damaging |
Het |
Tnxb |
C |
T |
17: 34,911,329 (GRCm39) |
T1544I |
possibly damaging |
Het |
Trim28 |
A |
G |
7: 12,762,341 (GRCm39) |
T322A |
probably damaging |
Het |
Tubgcp3 |
G |
A |
8: 12,707,626 (GRCm39) |
A121V |
possibly damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,372,431 (GRCm39) |
W20R |
probably null |
Het |
Zfp551 |
A |
G |
7: 12,149,943 (GRCm39) |
F489L |
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 |
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'- ACCTTTAGCATTGTGCCTGG -3'
(R):5'- GAACACAAAAGGCCTGGCTC -3'
Sequencing Primer
(F):5'- GTTGGGACATGGTGGCTAAG -3'
(R):5'- CTCTGAGAGGCTGCCTTCTAAG -3'
|
Posted On |
2015-02-05 |