Incidental Mutation 'R6133:Ptpn1'
| ID |
487224 |
| 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 |
044280-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R6133 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
167773977-167821305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 167809716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 108
(V108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029053]
|
| AlphaFold |
P35821 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029053
AA Change: V108A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029053
Gene: ENSMUSG00000027540
AA Change: V108A
| 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 |
noncoding transcript
Transcript: ENSMUST00000124039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151705
|
| Meta Mutation Damage Score |
0.7584 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (47/47) |
| 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 |
|---|
| Adcy7 |
A |
G |
8: 89,052,067 (GRCm39) |
T912A |
possibly damaging |
Het |
| Akap12 |
G |
T |
10: 4,305,178 (GRCm39) |
G663C |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,758,179 (GRCm39) |
S958P |
possibly damaging |
Het |
| Cmtm2a |
T |
C |
8: 105,019,362 (GRCm39) |
I76V |
probably benign |
Het |
| Cpxm2 |
G |
A |
7: 131,730,182 (GRCm39) |
P146S |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,313,429 (GRCm39) |
V3047A |
probably benign |
Het |
| Dgkd |
T |
A |
1: 87,865,962 (GRCm39) |
V198E |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,685,469 (GRCm39) |
M181K |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,458,814 (GRCm39) |
T3775A |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,723,146 (GRCm39) |
I391V |
probably benign |
Het |
| Ebi3 |
T |
A |
17: 56,261,311 (GRCm39) |
V69E |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,886 (GRCm39) |
T1998A |
probably damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,284,915 (GRCm39) |
H1245Q |
probably benign |
Het |
| Gm7145 |
T |
A |
1: 117,913,618 (GRCm39) |
C167S |
probably damaging |
Het |
| Hydin |
C |
T |
8: 111,327,908 (GRCm39) |
T4805I |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 24,053,936 (GRCm39) |
M21I |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,574 (GRCm39) |
D621G |
probably benign |
Het |
| Lrrc15 |
C |
T |
16: 30,093,054 (GRCm39) |
G95D |
probably benign |
Het |
| Mex3d |
A |
G |
10: 80,222,620 (GRCm39) |
L212P |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,581,151 (GRCm39) |
V32A |
probably benign |
Het |
| Nsl1 |
T |
C |
1: 190,803,403 (GRCm39) |
L158P |
probably damaging |
Het |
| Or51q1c |
A |
T |
7: 103,652,532 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or6c202 |
G |
A |
10: 128,996,752 (GRCm39) |
L34F |
possibly damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pakap |
C |
T |
4: 57,855,516 (GRCm39) |
Q525* |
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,481,805 (GRCm39) |
|
probably null |
Het |
| Pramel15 |
T |
C |
4: 144,104,347 (GRCm39) |
R53G |
possibly damaging |
Het |
| Rad9b |
T |
C |
5: 122,477,831 (GRCm39) |
N182D |
possibly damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,573,448 (GRCm39) |
V1433I |
probably benign |
Het |
| Ssrp1 |
T |
G |
2: 84,875,683 (GRCm39) |
|
probably benign |
Het |
| Suco |
T |
A |
1: 161,662,752 (GRCm39) |
K560* |
probably null |
Het |
| Tbx3 |
T |
C |
5: 119,819,018 (GRCm39) |
V531A |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,098,100 (GRCm39) |
Y107C |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,188,963 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
A |
T |
7: 142,642,688 (GRCm39) |
D86E |
probably damaging |
Het |
| Urb2 |
C |
T |
8: 124,755,300 (GRCm39) |
Q336* |
probably null |
Het |
| Vmn2r43 |
A |
G |
7: 8,247,970 (GRCm39) |
F731S |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,754,359 (GRCm39) |
T118A |
probably benign |
Het |
| Zcchc2 |
A |
C |
1: 105,947,609 (GRCm39) |
K117N |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,780,733 (GRCm39) |
Y194H |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,237,675 (GRCm39) |
C490Y |
possibly damaging |
Het |
| Zmynd19 |
G |
T |
2: 24,848,131 (GRCm39) |
R148L |
possibly 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 |
|
R4075:Ptpn1
|
UTSW |
2 |
167,818,433 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- CACATGATGGGATGTGGGAC -3'
(R):5'- CTCCCTAGTGTGGTCTGTAATAAAAG -3'
Sequencing Primer
(F):5'- GGACTGGGTGACTGACGG -3'
(R):5'- GGGGAGCTTTAAGAACTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation