Incidental Mutation 'R7969:Ptpdc1'
| ID |
650517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpdc1
|
| Ensembl Gene |
ENSMUSG00000038042 |
| Gene Name |
protein tyrosine phosphatase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
046012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7969 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
48731348-48779140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48740577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 285
(R285C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035824]
[ENSMUST00000222028]
[ENSMUST00000223025]
|
| AlphaFold |
Q6NZK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035824
AA Change: R224C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: R224C
| 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 |
probably damaging
Transcript: ENSMUST00000222028
AA Change: R285C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223025
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,870,663 (GRCm39) |
I193N |
probably damaging |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Atf6b |
A |
T |
17: 34,867,549 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
G |
1: 136,004,470 (GRCm39) |
F337C |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,174,280 (GRCm39) |
I488V |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,720,892 (GRCm39) |
D375E |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,055,253 (GRCm39) |
F279S |
probably damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,844,181 (GRCm39) |
V95A |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,066,466 (GRCm39) |
F235S |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,354,165 (GRCm39) |
D427G |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,342,178 (GRCm39) |
Y529H |
probably benign |
Het |
| Epx |
C |
T |
11: 87,763,547 (GRCm39) |
M224I |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,748,449 (GRCm39) |
R101G |
possibly damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,883 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
C |
T |
9: 108,439,505 (GRCm39) |
R153* |
probably null |
Het |
| Kcnj12 |
C |
T |
11: 60,960,430 (GRCm39) |
Q243* |
probably null |
Het |
| Lrrn1 |
T |
A |
6: 107,544,811 (GRCm39) |
V203E |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,300,536 (GRCm39) |
S338P |
possibly damaging |
Het |
| Myl10 |
A |
T |
5: 136,729,707 (GRCm39) |
|
probably null |
Het |
| Nt5c3b |
T |
C |
11: 100,325,567 (GRCm39) |
K120E |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,547 (GRCm39) |
L211H |
probably damaging |
Het |
| Or2h1b |
T |
A |
17: 37,462,077 (GRCm39) |
N262I |
possibly damaging |
Het |
| Or6c1 |
G |
A |
10: 129,517,699 (GRCm39) |
T303I |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,716 (GRCm39) |
L313S |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,024,664 (GRCm39) |
S452P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,179,034 (GRCm39) |
I2982V |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,597,249 (GRCm39) |
D486G |
probably damaging |
Het |
| Rbm27 |
A |
T |
18: 42,408,545 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,461,378 (GRCm39) |
Y1475C |
possibly damaging |
Het |
| Snx14 |
G |
A |
9: 88,295,613 (GRCm39) |
T184M |
probably damaging |
Het |
| Tgm5 |
G |
T |
2: 120,905,650 (GRCm39) |
N168K |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,891 (GRCm39) |
V47A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,558,568 (GRCm39) |
H3599R |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,122,896 (GRCm39) |
E211G |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,452,604 (GRCm39) |
H832Q |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,553,772 (GRCm39) |
V250D |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,493,252 (GRCm39) |
S462P |
unknown |
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 |
|
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 |
|
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'- TCAGAAGTCGTGCCTCGTAG -3'
(R):5'- CTCTGGATTTGATGCCCAGTG -3'
Sequencing Primer
(F):5'- CTCGTAGCCATGAAGCAGATGTC -3'
(R):5'- GTGATACATAAGCTCAGCCTGGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation