Incidental Mutation 'R5194:Ptpdc1'
| ID |
400004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpdc1
|
| Ensembl Gene |
ENSMUSG00000038042 |
| Gene Name |
protein tyrosine phosphatase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
042770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5194 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
48731348-48779140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48740265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 389
(V389F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035824]
[ENSMUST00000222028]
[ENSMUST00000223025]
|
| AlphaFold |
Q6NZK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035824
AA Change: V328F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: V328F
| 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 |
possibly damaging
Transcript: ENSMUST00000222028
AA Change: V389F
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223025
|
| Meta Mutation Damage Score |
0.0632 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
C |
17: 48,348,059 (GRCm39) |
N82D |
probably benign |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,281,652 (GRCm39) |
V380A |
probably benign |
Het |
| Acadm |
C |
T |
3: 153,638,755 (GRCm39) |
R206H |
possibly damaging |
Het |
| Acly |
T |
A |
11: 100,414,372 (GRCm39) |
Y18F |
probably benign |
Het |
| Acnat2 |
G |
T |
4: 49,380,452 (GRCm39) |
Q291K |
probably benign |
Het |
| Agtpbp1 |
T |
C |
13: 59,648,453 (GRCm39) |
I456V |
probably benign |
Het |
| Ankrd7 |
A |
G |
6: 18,868,076 (GRCm39) |
N114S |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,275,132 (GRCm39) |
L307I |
probably benign |
Het |
| Arhgef2 |
A |
T |
3: 88,542,956 (GRCm39) |
I383F |
probably damaging |
Het |
| Cbs |
C |
T |
17: 31,843,198 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,763,624 (GRCm39) |
V538A |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,532,936 (GRCm39) |
E254G |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,788,345 (GRCm39) |
V236A |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,723,302 (GRCm39) |
Q169* |
probably null |
Het |
| Egfem1 |
G |
A |
3: 29,411,345 (GRCm39) |
|
probably null |
Het |
| Eif2ak3 |
T |
C |
6: 70,835,462 (GRCm39) |
S130P |
possibly damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,032,355 (GRCm39) |
N297S |
unknown |
Het |
| F13a1 |
T |
G |
13: 37,156,037 (GRCm39) |
D192A |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,034,411 (GRCm39) |
V1067A |
probably benign |
Het |
| Gm17490 |
T |
C |
2: 11,631,062 (GRCm39) |
Y5C |
unknown |
Het |
| Gm57859 |
T |
C |
11: 113,579,654 (GRCm39) |
S350P |
possibly damaging |
Het |
| Gm8587 |
C |
T |
12: 88,056,556 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Ab1 |
C |
T |
17: 34,488,352 (GRCm39) |
|
probably benign |
Het |
| Hoxd12 |
T |
C |
2: 74,505,447 (GRCm39) |
L6P |
probably damaging |
Het |
| Ifi204 |
C |
T |
1: 173,576,910 (GRCm39) |
D564N |
possibly damaging |
Het |
| Irak2 |
T |
C |
6: 113,667,751 (GRCm39) |
V444A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,235,526 (GRCm39) |
N877H |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,079,495 (GRCm39) |
I388V |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,801,733 (GRCm39) |
A1286V |
probably benign |
Het |
| Myt1l |
A |
C |
12: 29,861,647 (GRCm39) |
D143A |
unknown |
Het |
| Ngfr |
T |
C |
11: 95,471,808 (GRCm39) |
N63S |
probably benign |
Het |
| Or2ag16 |
A |
T |
7: 106,352,426 (GRCm39) |
H56Q |
probably benign |
Het |
| Or4c3 |
T |
A |
2: 89,851,870 (GRCm39) |
Y180F |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,071 (GRCm39) |
I255V |
probably benign |
Het |
| Or6c70 |
C |
T |
10: 129,709,967 (GRCm39) |
V220I |
probably benign |
Het |
| Or6z6 |
A |
G |
7: 6,491,519 (GRCm39) |
L118P |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,811,858 (GRCm39) |
S390P |
probably benign |
Het |
| Pcdhga4 |
A |
C |
18: 37,820,794 (GRCm39) |
Q781P |
probably benign |
Het |
| Phip |
G |
A |
9: 82,790,915 (GRCm39) |
S677F |
probably benign |
Het |
| Rab2a |
T |
A |
4: 8,604,381 (GRCm39) |
I161N |
probably benign |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,111 (GRCm39) |
M1K |
probably null |
Het |
| Schip1 |
T |
C |
3: 68,402,205 (GRCm39) |
V122A |
probably benign |
Het |
| Sdr16c5 |
C |
A |
4: 4,006,663 (GRCm39) |
A210S |
probably benign |
Het |
| Sh3bp1 |
A |
G |
15: 78,787,301 (GRCm39) |
K83E |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,166,012 (GRCm39) |
S1541G |
possibly damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,870,673 (GRCm39) |
Y4C |
probably damaging |
Het |
| Smco1 |
C |
T |
16: 32,092,592 (GRCm39) |
H88Y |
probably damaging |
Het |
| Tll2 |
T |
C |
19: 41,084,336 (GRCm39) |
D697G |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,200 (GRCm39) |
N334S |
possibly damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,346,847 (GRCm39) |
I64T |
probably benign |
Het |
| Vstm2b |
T |
A |
7: 40,551,912 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,140,639 (GRCm39) |
F238L |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,596,822 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,579,434 (GRCm39) |
S560G |
probably benign |
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 |
|
R0014:Ptpdc1
|
UTSW |
13 |
48,740,395 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- AGTCTGAGTCGCTGTAGCTGAG -3'
(R):5'- TTAGCCCAGTACCTGATTCGC -3'
Sequencing Primer
(F):5'- CGCTGTAGCTGAGCTGTC -3'
(R):5'- CCAGCGACATCTGCTTCATGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation