Incidental Mutation 'R1076:Ptpdc1'
| ID |
85664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpdc1
|
| Ensembl Gene |
ENSMUSG00000038042 |
| Gene Name |
protein tyrosine phosphatase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
039162-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
48731348-48779140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 48740286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 382
(E382K)
|
| 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: E321K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: E321K
| 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 damaging
Transcript: ENSMUST00000222028
AA Change: E382K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223025
|
| Meta Mutation Damage Score |
0.1297 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
T |
C |
14: 52,001,759 (GRCm39) |
K63R |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,509,071 (GRCm39) |
N176D |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
| Cldn4 |
A |
G |
5: 134,975,191 (GRCm39) |
S137P |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,019,165 (GRCm39) |
Q157L |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,242 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
C |
T |
15: 73,412,582 (GRCm39) |
H415Y |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,292,582 (GRCm39) |
|
probably benign |
Het |
| Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,343,583 (GRCm39) |
V115A |
possibly damaging |
Het |
| Fryl |
C |
T |
5: 73,282,016 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,492,692 (GRCm39) |
T707A |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,932,095 (GRCm39) |
M674K |
probably damaging |
Het |
| Larp4 |
A |
G |
15: 99,895,311 (GRCm39) |
T295A |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,399,666 (GRCm39) |
|
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,835,615 (GRCm39) |
|
probably null |
Het |
| Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,094,904 (GRCm39) |
Y4883H |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,014,283 (GRCm39) |
C286S |
probably benign |
Het |
| Pabpc4 |
T |
A |
4: 123,186,701 (GRCm39) |
D307E |
possibly damaging |
Het |
| Pik3cg |
G |
A |
12: 32,245,713 (GRCm39) |
|
probably benign |
Het |
| Serpina3k |
A |
G |
12: 104,307,253 (GRCm39) |
T162A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,841,431 (GRCm39) |
T795A |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,784,416 (GRCm39) |
V14E |
probably damaging |
Het |
| Slc2a1 |
T |
G |
4: 118,991,645 (GRCm39) |
M351R |
probably damaging |
Het |
| Slc41a3 |
G |
A |
6: 90,621,142 (GRCm39) |
C394Y |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
| Ulk2 |
G |
A |
11: 61,710,135 (GRCm39) |
H358Y |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,608,405 (GRCm39) |
I1544N |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,608,321 (GRCm39) |
M1572T |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably 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 |
|
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 |
|
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'- GCCCTCTTTAAGTCTGAGTCGCTG -3'
(R):5'- TGACCCCAAAGCACATGCTGTTAC -3'
Sequencing Primer
(F):5'- GGGCTGAAGGCACTCAATATC -3'
(R):5'- CAAAGCACATGCTGTTACCTTAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation