Incidental Mutation 'R0014:Ptpdc1'
| ID |
201332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpdc1
|
| Ensembl Gene |
ENSMUSG00000038042 |
| Gene Name |
protein tyrosine phosphatase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
038309-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0014 (G1)
|
| Quality Score |
70 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
48731348-48779140 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 48740395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 345
(Y345*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035824]
[ENSMUST00000222028]
[ENSMUST00000223025]
|
| AlphaFold |
Q6NZK8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035824
AA Change: Y284*
|
| SMART Domains |
Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: Y284*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
102 |
243 |
1.1e-13 |
PFAM |
|
Pfam:Y_phosphatase
|
144 |
242 |
8.9e-10 |
PFAM |
|
low complexity region
|
598 |
610 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221887
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222028
AA Change: Y345*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223025
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a centrosomal mitotic phosphatase. This protein has been implicated in centrosomal duplication and cytokinesis. In addition, knockdown of expression levels in non-cycling cells results in extra long cilia, suggesting that this protein may function in regulating cilia length independent of a function in cell cycle control. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,810 (GRCm39) |
V136M |
probably damaging |
Het |
| Capg |
A |
G |
6: 72,538,026 (GRCm39) |
E304G |
possibly damaging |
Het |
| Ccdc125 |
A |
C |
13: 100,820,846 (GRCm39) |
N189T |
possibly damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
| Cd2ap |
T |
C |
17: 43,118,819 (GRCm39) |
S540G |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,299,305 (GRCm39) |
T529M |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,353 (GRCm39) |
D49G |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,809,603 (GRCm39) |
D97G |
probably damaging |
Het |
| Dgkg |
A |
T |
16: 22,384,114 (GRCm39) |
|
probably null |
Het |
| Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
| Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
| F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
| Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
| Klhl28 |
T |
C |
12: 65,004,076 (GRCm39) |
T146A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
T |
A |
9: 57,046,985 (GRCm39) |
M580K |
probably benign |
Het |
| Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,666 (GRCm39) |
S563P |
probably damaging |
Het |
| Or2at4 |
T |
C |
7: 99,385,256 (GRCm39) |
V302A |
probably damaging |
Het |
| Or4k51 |
A |
G |
2: 111,585,119 (GRCm39) |
D175G |
probably damaging |
Het |
| Or55b3 |
A |
G |
7: 102,126,684 (GRCm39) |
I131T |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,057,888 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
| Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
| Rcbtb1 |
G |
T |
14: 59,472,691 (GRCm39) |
K493N |
probably benign |
Het |
| Rexo2 |
A |
T |
9: 48,385,747 (GRCm39) |
S126T |
probably benign |
Het |
| Rorc |
T |
A |
3: 94,284,920 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,868 (GRCm39) |
T100A |
probably benign |
Het |
| Tbc1d20 |
A |
T |
2: 152,153,701 (GRCm39) |
Q342L |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,943,831 (GRCm39) |
T150A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,897,970 (GRCm39) |
H317R |
probably damaging |
Het |
| Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,829,130 (GRCm39) |
F1029L |
possibly damaging |
Het |
| Wdr7 |
A |
G |
18: 64,037,172 (GRCm39) |
T1199A |
probably benign |
Het |
| Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,503,344 (GRCm39) |
F738L |
possibly damaging |
Het |
|
| Other mutations in Ptpdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Ptpdc1
|
APN |
13 |
48,740,534 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01410:Ptpdc1
|
APN |
13 |
48,740,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02931:Ptpdc1
|
APN |
13 |
48,744,095 (GRCm39) |
splice site |
probably benign |
|
|
IGL03180:Ptpdc1
|
APN |
13 |
48,739,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4519001:Ptpdc1
|
UTSW |
13 |
48,736,632 (GRCm39) |
missense |
probably benign |
0.29 |
|
PIT4687001:Ptpdc1
|
UTSW |
13 |
48,739,766 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0244:Ptpdc1
|
UTSW |
13 |
48,739,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0420:Ptpdc1
|
UTSW |
13 |
48,742,595 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0690:Ptpdc1
|
UTSW |
13 |
48,740,381 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0946:Ptpdc1
|
UTSW |
13 |
48,740,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1076:Ptpdc1
|
UTSW |
13 |
48,740,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Ptpdc1
|
UTSW |
13 |
48,739,796 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1459:Ptpdc1
|
UTSW |
13 |
48,740,173 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1688:Ptpdc1
|
UTSW |
13 |
48,739,700 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1732:Ptpdc1
|
UTSW |
13 |
48,740,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2097:Ptpdc1
|
UTSW |
13 |
48,746,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2570:Ptpdc1
|
UTSW |
13 |
48,739,539 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3950:Ptpdc1
|
UTSW |
13 |
48,742,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4260:Ptpdc1
|
UTSW |
13 |
48,733,234 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5194:Ptpdc1
|
UTSW |
13 |
48,740,265 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5271:Ptpdc1
|
UTSW |
13 |
48,744,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Ptpdc1
|
UTSW |
13 |
48,743,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Ptpdc1
|
UTSW |
13 |
48,739,845 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6894:Ptpdc1
|
UTSW |
13 |
48,744,114 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7056:Ptpdc1
|
UTSW |
13 |
48,740,466 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7436:Ptpdc1
|
UTSW |
13 |
48,740,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7719:Ptpdc1
|
UTSW |
13 |
48,739,766 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7827:Ptpdc1
|
UTSW |
13 |
48,733,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Ptpdc1
|
UTSW |
13 |
48,740,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Ptpdc1
|
UTSW |
13 |
48,746,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8330:Ptpdc1
|
UTSW |
13 |
48,751,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8500:Ptpdc1
|
UTSW |
13 |
48,739,759 (GRCm39) |
nonsense |
probably null |
|
|
R8687:Ptpdc1
|
UTSW |
13 |
48,740,136 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8874:Ptpdc1
|
UTSW |
13 |
48,744,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Ptpdc1
|
UTSW |
13 |
48,739,655 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9284:Ptpdc1
|
UTSW |
13 |
48,740,167 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9290:Ptpdc1
|
UTSW |
13 |
48,740,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9309:Ptpdc1
|
UTSW |
13 |
48,736,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9359:Ptpdc1
|
UTSW |
13 |
48,740,030 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9369:Ptpdc1
|
UTSW |
13 |
48,736,722 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9661:Ptpdc1
|
UTSW |
13 |
48,739,610 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGAAGGCACTCAATATCCCTC -3'
(R):5'- GCAACAAGAATGACTGCTGACCAAG -3'
Sequencing Primer
(F):5'- GGTCAAACTCCTGCTCAGTAGAG -3'
(R):5'- GCTGACCAAGCAATTATATTTGTTCG -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation