Incidental Mutation 'R4075:Ptpn1'
ID |
316502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptpn1
|
Ensembl Gene |
ENSMUSG00000027540 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 1 |
Synonyms |
PTP1B, PTP-1B |
MMRRC Submission |
040974-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.916)
|
Stock # |
R4075 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
167773977-167821305 bp(+) (GRCm39) |
Type of Mutation |
splice site (3653 bp from exon) |
DNA Base Change (assembly) |
T to A
at 167818433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029053]
[ENSMUST00000099073]
|
AlphaFold |
P35821 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029053
AA Change: S392T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000029053 Gene: ENSMUSG00000027540 AA Change: S392T
Domain | Start | End | E-Value | Type |
PTPc
|
15 |
279 |
1.35e-123 |
SMART |
low complexity region
|
301 |
320 |
N/A |
INTRINSIC |
low complexity region
|
354 |
364 |
N/A |
INTRINSIC |
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000099073
|
SMART Domains |
Protein: ENSMUSP00000096672 Gene: ENSMUSG00000074577
Domain | Start | End | E-Value | Type |
Pfam:PL48
|
19 |
363 |
3.5e-169 |
PFAM |
low complexity region
|
414 |
423 |
N/A |
INTRINSIC |
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
low complexity region
|
582 |
602 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
794 |
909 |
6e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123782
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126839
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147210
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] PHENOTYPE: Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Adgrf5 |
T |
G |
17: 43,761,086 (GRCm39) |
V927G |
probably damaging |
Het |
Agtr1a |
A |
G |
13: 30,565,817 (GRCm39) |
N294S |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,402,023 (GRCm39) |
L1229S |
probably damaging |
Het |
Chmp7 |
A |
T |
14: 69,969,730 (GRCm39) |
V70E |
probably damaging |
Het |
Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,318,810 (GRCm39) |
V2963A |
possibly damaging |
Het |
Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
Dnah5 |
T |
A |
15: 28,293,937 (GRCm39) |
D1347E |
probably benign |
Het |
Dsg1a |
T |
G |
18: 20,473,127 (GRCm39) |
N733K |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,813,245 (GRCm39) |
S3188L |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,485,514 (GRCm39) |
M234T |
possibly damaging |
Het |
Ifi44 |
A |
T |
3: 151,451,613 (GRCm39) |
N164K |
probably benign |
Het |
Ikzf3 |
G |
T |
11: 98,358,469 (GRCm39) |
Y289* |
probably null |
Het |
Il17rc |
A |
G |
6: 113,458,158 (GRCm39) |
D327G |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Lce1l |
C |
T |
3: 92,757,540 (GRCm39) |
S106N |
unknown |
Het |
Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,062,622 (GRCm39) |
Y1196H |
probably damaging |
Het |
Mtr |
C |
A |
13: 12,230,298 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Nxt1 |
A |
G |
2: 148,517,652 (GRCm39) |
D131G |
probably damaging |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5bw2 |
T |
C |
7: 6,573,142 (GRCm39) |
S51P |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,879,150 (GRCm39) |
R902G |
probably damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Slc28a2b |
T |
G |
2: 122,344,892 (GRCm39) |
V166G |
probably benign |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Ssrp1 |
A |
C |
2: 84,875,912 (GRCm39) |
K590N |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,238 (GRCm39) |
E223G |
probably benign |
Het |
Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
Zfp677 |
T |
C |
17: 21,618,421 (GRCm39) |
Y493H |
probably damaging |
Het |
|
Other mutations in Ptpn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01482:Ptpn1
|
APN |
2 |
167,809,712 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02976:Ptpn1
|
APN |
2 |
167,813,704 (GRCm39) |
missense |
probably benign |
0.01 |
escondido
|
UTSW |
2 |
167,816,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Ptpn1
|
UTSW |
2 |
167,818,338 (GRCm39) |
unclassified |
probably benign |
|
R0106:Ptpn1
|
UTSW |
2 |
167,818,338 (GRCm39) |
unclassified |
probably benign |
|
R1438:Ptpn1
|
UTSW |
2 |
167,818,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R3010:Ptpn1
|
UTSW |
2 |
167,816,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R3607:Ptpn1
|
UTSW |
2 |
167,817,427 (GRCm39) |
missense |
probably benign |
|
R3755:Ptpn1
|
UTSW |
2 |
167,816,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4160:Ptpn1
|
UTSW |
2 |
167,809,731 (GRCm39) |
missense |
probably benign |
0.04 |
R4627:Ptpn1
|
UTSW |
2 |
167,809,701 (GRCm39) |
missense |
probably benign |
0.00 |
R4754:Ptpn1
|
UTSW |
2 |
167,816,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R5596:Ptpn1
|
UTSW |
2 |
167,816,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R5920:Ptpn1
|
UTSW |
2 |
167,813,668 (GRCm39) |
missense |
probably benign |
0.02 |
R6133:Ptpn1
|
UTSW |
2 |
167,809,716 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7296:Ptpn1
|
UTSW |
2 |
167,816,692 (GRCm39) |
missense |
probably damaging |
0.98 |
R8350:Ptpn1
|
UTSW |
2 |
167,816,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R9275:Ptpn1
|
UTSW |
2 |
167,816,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGGTTTCCTCCATAGAGATG -3'
(R):5'- GTGCACTAATACCCTCCTGG -3'
Sequencing Primer
(F):5'- CCATAGAGATGGTCTCCTTTTCC -3'
(R):5'- TTCCAGTTCCAGAGCAGGCTTG -3'
|
Posted On |
2015-05-15 |