Incidental Mutation 'R6325:Ptpn20'
| ID |
510246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn20
|
| Ensembl Gene |
ENSMUSG00000021940 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 20 |
| Synonyms |
typ |
| MMRRC Submission |
044479-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
33311164-33362711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33352962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 234
(T234S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022508]
[ENSMUST00000226512]
[ENSMUST00000227887]
|
| AlphaFold |
O55082 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022508
AA Change: T234S
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022508
Gene: ENSMUSG00000021940
AA Change: T234S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
35 |
N/A |
INTRINSIC |
|
PTPc
|
164 |
420 |
1.12e-120 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226512
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227887
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,964,944 (GRCm39) |
I596T |
probably benign |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Birc7 |
G |
A |
2: 180,571,243 (GRCm39) |
D102N |
probably benign |
Het |
| Cct8 |
A |
C |
16: 87,292,615 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
T |
C |
9: 10,144,328 (GRCm39) |
|
probably null |
Het |
| Cyp11a1 |
A |
G |
9: 57,932,851 (GRCm39) |
N396D |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,052,163 (GRCm39) |
S255P |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,171,826 (GRCm39) |
M1822K |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,058,995 (GRCm39) |
V227A |
probably benign |
Het |
| Fbrsl1 |
A |
G |
5: 110,525,273 (GRCm39) |
F100L |
probably damaging |
Het |
| Gpd2 |
T |
C |
2: 57,194,408 (GRCm39) |
S104P |
probably damaging |
Het |
| Grp |
T |
C |
18: 66,006,824 (GRCm39) |
|
probably null |
Het |
| Hamp |
A |
C |
7: 30,643,328 (GRCm39) |
H27Q |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,491,031 (GRCm39) |
S241C |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,756,351 (GRCm39) |
I1349N |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,002,430 (GRCm39) |
Y8H |
probably damaging |
Het |
| Or2ak7 |
T |
A |
11: 58,575,354 (GRCm39) |
Y218* |
probably null |
Het |
| Or2w1 |
A |
T |
13: 21,317,245 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pla2g2e |
T |
C |
4: 138,607,736 (GRCm39) |
Y39H |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prss1l |
T |
C |
6: 41,373,590 (GRCm39) |
V151A |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,655,763 (GRCm39) |
V810E |
probably damaging |
Het |
| Taar2 |
A |
T |
10: 23,816,615 (GRCm39) |
M52L |
probably benign |
Het |
| Tex47 |
A |
T |
5: 7,354,935 (GRCm39) |
R39* |
probably null |
Het |
| Tnxb |
T |
A |
17: 34,911,398 (GRCm39) |
V1567D |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,026,331 (GRCm39) |
Y79H |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp462 |
C |
T |
4: 55,080,680 (GRCm39) |
T1344I |
probably benign |
Het |
| Zfp804a |
A |
T |
2: 82,087,382 (GRCm39) |
I404L |
possibly damaging |
Het |
|
| Other mutations in Ptpn20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Ptpn20
|
APN |
14 |
33,344,576 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01510:Ptpn20
|
APN |
14 |
33,360,343 (GRCm39) |
splice site |
probably null |
|
|
R2057:Ptpn20
|
UTSW |
14 |
33,352,942 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2262:Ptpn20
|
UTSW |
14 |
33,334,268 (GRCm39) |
missense |
probably benign |
|
|
R3106:Ptpn20
|
UTSW |
14 |
33,334,253 (GRCm39) |
missense |
probably benign |
|
|
R3430:Ptpn20
|
UTSW |
14 |
33,336,485 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4645:Ptpn20
|
UTSW |
14 |
33,353,169 (GRCm39) |
missense |
probably benign |
|
|
R4928:Ptpn20
|
UTSW |
14 |
33,336,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4962:Ptpn20
|
UTSW |
14 |
33,336,416 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5087:Ptpn20
|
UTSW |
14 |
33,336,398 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5163:Ptpn20
|
UTSW |
14 |
33,353,068 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5275:Ptpn20
|
UTSW |
14 |
33,353,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6651:Ptpn20
|
UTSW |
14 |
33,354,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6831:Ptpn20
|
UTSW |
14 |
33,354,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6903:Ptpn20
|
UTSW |
14 |
33,336,461 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7034:Ptpn20
|
UTSW |
14 |
33,336,392 (GRCm39) |
makesense |
probably null |
|
|
R7036:Ptpn20
|
UTSW |
14 |
33,336,392 (GRCm39) |
makesense |
probably null |
|
|
R7265:Ptpn20
|
UTSW |
14 |
33,336,481 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7654:Ptpn20
|
UTSW |
14 |
33,360,281 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7735:Ptpn20
|
UTSW |
14 |
33,352,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Ptpn20
|
UTSW |
14 |
33,344,509 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8314:Ptpn20
|
UTSW |
14 |
33,344,504 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9356:Ptpn20
|
UTSW |
14 |
33,352,865 (GRCm39) |
nonsense |
probably null |
|
|
R9690:Ptpn20
|
UTSW |
14 |
33,353,176 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCACAAAGTCTGGGTAGC -3'
(R):5'- CTTCACAATCTGAAATACTCGAACG -3'
Sequencing Primer
(F):5'- TTCACAAAGTCTGGGTAGCTCAGC -3'
(R):5'- TGAGTTACATGAAAGGTCTCCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation