Incidental Mutation 'R2097:Ptpdc1'
| ID |
230330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpdc1
|
| Ensembl Gene |
ENSMUSG00000038042 |
| Gene Name |
protein tyrosine phosphatase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
040101-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
48731348-48779140 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 48746135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035824]
[ENSMUST00000035824]
[ENSMUST00000222028]
[ENSMUST00000223025]
|
| AlphaFold |
Q6NZK8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035824
|
| SMART Domains |
Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
| 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 null
Transcript: ENSMUST00000035824
|
| SMART Domains |
Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
| 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: ENSMUST00000221424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221947
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223025
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,709,185 (GRCm39) |
V263A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,931,333 (GRCm39) |
|
probably null |
Het |
| Aqp3 |
C |
T |
4: 41,098,004 (GRCm39) |
V36M |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,771,520 (GRCm39) |
C478F |
probably benign |
Het |
| Bbof1 |
C |
A |
12: 84,460,081 (GRCm39) |
A116D |
probably damaging |
Het |
| Casq1 |
A |
T |
1: 172,037,988 (GRCm39) |
L381Q |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,397,759 (GRCm39) |
L533* |
probably null |
Het |
| Cdcp3 |
A |
T |
7: 130,783,693 (GRCm39) |
R29* |
probably null |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,910 (GRCm39) |
E988G |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,259 (GRCm39) |
N321Y |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,821,084 (GRCm39) |
S1269P |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,101 (GRCm39) |
P856H |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,811,791 (GRCm39) |
|
probably null |
Het |
| Galc |
T |
C |
12: 98,218,291 (GRCm39) |
D187G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,357,079 (GRCm39) |
I384T |
probably damaging |
Het |
| Hacd2 |
A |
G |
16: 34,869,090 (GRCm39) |
I92V |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,270,431 (GRCm39) |
Y1223N |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,635,211 (GRCm39) |
I484T |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,122,362 (GRCm39) |
V143F |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,348,323 (GRCm39) |
L1893P |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,844 (GRCm39) |
N533S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,630,638 (GRCm39) |
D2233G |
probably damaging |
Het |
| Nlrp6 |
A |
T |
7: 140,503,117 (GRCm39) |
T408S |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,341,728 (GRCm39) |
L2008Q |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,454,408 (GRCm39) |
F398I |
possibly damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,383 (GRCm39) |
Y149* |
probably null |
Het |
| Pggt1b |
T |
C |
18: 46,379,695 (GRCm39) |
N296D |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,478 (GRCm39) |
F243I |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,489,354 (GRCm39) |
T924A |
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,013,576 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
G |
T |
16: 17,391,319 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,715,272 (GRCm39) |
I327K |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,933 (GRCm39) |
M4V |
probably damaging |
Het |
| Tspan13 |
T |
C |
12: 36,071,829 (GRCm39) |
S128G |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,882 (GRCm39) |
D131G |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,168 (GRCm39) |
C615S |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,021,176 (GRCm39) |
D149N |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,892 (GRCm39) |
K297E |
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 |
|
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 |
|
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'- ACACTTACCAGGATGAGTATACTCCC -3'
(R):5'- GTTCTGGACAAAATTGATCCTCTTG -3'
Sequencing Primer
(F):5'- CCAGGATGAGTATACTCCCTTAATGG -3'
(R):5'- TTGATCCTCTTGAAAAAGATGAGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation