Incidental Mutation 'R5271:Ptpdc1'
| ID |
400342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpdc1
|
| Ensembl Gene |
ENSMUSG00000038042 |
| Gene Name |
protein tyrosine phosphatase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
042861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5271 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
48731348-48779140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48744174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 149
(D149G)
|
| 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: D88G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: D88G
| 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 damaging
Transcript: ENSMUST00000222028
AA Change: D149G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223025
AA Change: T66A
|
| Meta Mutation Damage Score |
0.1678 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (65/67) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,496 (GRCm39) |
K33R |
possibly damaging |
Het |
| 4632415L05Rik |
C |
T |
3: 19,949,311 (GRCm39) |
|
noncoding transcript |
Het |
| 4930542C16Rik |
A |
C |
14: 24,665,598 (GRCm39) |
|
noncoding transcript |
Het |
| Adprh |
A |
T |
16: 38,266,416 (GRCm39) |
L242* |
probably null |
Het |
| Anapc1 |
G |
A |
2: 128,527,905 (GRCm39) |
Q18* |
probably null |
Het |
| Bfar |
T |
C |
16: 13,510,261 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,745,568 (GRCm39) |
I206V |
probably benign |
Het |
| Cc2d1b |
T |
A |
4: 108,480,826 (GRCm39) |
|
probably benign |
Het |
| Clock |
A |
G |
5: 76,389,801 (GRCm39) |
I349T |
probably damaging |
Het |
| Cox11 |
A |
G |
11: 90,534,558 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cyp1a1 |
G |
A |
9: 57,610,121 (GRCm39) |
V512M |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,371,671 (GRCm39) |
F311S |
probably benign |
Het |
| Dnase1l3 |
T |
C |
14: 7,993,843 (GRCm38) |
D48G |
probably damaging |
Het |
| Engase |
G |
T |
11: 118,372,223 (GRCm39) |
A172S |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,465,466 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
A |
G |
8: 122,997,872 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,105,517 (GRCm39) |
V215A |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm20671 |
T |
C |
5: 32,977,303 (GRCm39) |
K1817R |
possibly damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,583 (GRCm39) |
Y410* |
probably null |
Het |
| Gm27013 |
T |
C |
6: 130,653,878 (GRCm39) |
Y528C |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,400,680 (GRCm39) |
H550R |
probably benign |
Het |
| Iqgap1 |
A |
T |
7: 80,383,896 (GRCm39) |
V1056E |
probably damaging |
Het |
| Lrit3 |
T |
A |
3: 129,581,950 (GRCm39) |
Y679F |
probably damaging |
Het |
| Megf8 |
A |
T |
7: 25,041,131 (GRCm39) |
E1120V |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,095,577 (GRCm39) |
E518G |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,814,665 (GRCm39) |
I2200M |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,598,725 (GRCm39) |
H66R |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,231,371 (GRCm39) |
V812A |
probably damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,650 (GRCm39) |
Y310H |
possibly damaging |
Het |
| Ndst1 |
G |
A |
18: 60,838,204 (GRCm39) |
T347I |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,313,424 (GRCm39) |
L276S |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,113,297 (GRCm39) |
F60Y |
probably benign |
Het |
| Pcdhb10 |
C |
A |
18: 37,546,222 (GRCm39) |
Q433K |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,624,649 (GRCm39) |
V660M |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
| Pira12 |
A |
T |
7: 3,900,566 (GRCm39) |
Y61* |
probably null |
Het |
| Polk |
T |
C |
13: 96,620,047 (GRCm39) |
S718G |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,417 (GRCm39) |
C35* |
probably null |
Het |
| Samd9l |
C |
T |
6: 3,376,156 (GRCm39) |
M368I |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,110,107 (GRCm39) |
M1739T |
probably damaging |
Het |
| Slc18a3 |
A |
G |
14: 32,185,705 (GRCm39) |
L226P |
probably damaging |
Het |
| St7l |
A |
T |
3: 104,775,376 (GRCm39) |
Y84F |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,062,329 (GRCm39) |
N392I |
probably benign |
Het |
| Syngr1 |
T |
A |
15: 79,982,240 (GRCm39) |
M9K |
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,816,930 (GRCm39) |
S157P |
probably damaging |
Het |
| Tagap1 |
G |
T |
17: 7,223,495 (GRCm39) |
Y400* |
probably null |
Het |
| Tbc1d8 |
T |
A |
1: 39,412,848 (GRCm39) |
E976V |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,414,894 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,536,861 (GRCm39) |
S34988N |
possibly damaging |
Het |
| Tubg1 |
T |
G |
11: 101,011,064 (GRCm39) |
N15K |
probably damaging |
Het |
| Unc93a2 |
T |
C |
17: 7,637,081 (GRCm39) |
N149S |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zap70 |
T |
A |
1: 36,820,446 (GRCm39) |
V547D |
probably damaging |
Het |
| Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
| Znrf1 |
T |
G |
8: 112,335,976 (GRCm39) |
M159R |
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 |
|
R5194:Ptpdc1
|
UTSW |
13 |
48,740,265 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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'- AAATCAGCTCTTCACTGCCCG -3'
(R):5'- TTGTCAGAATCCTTAGGTCCTG -3'
Sequencing Primer
(F):5'- TCAGCTCAAGAAGAGCAC -3'
(R):5'- TCCCAGGGATTTAAGGAGCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation