Incidental Mutation 'R9500:Ptpn3'
| ID |
717477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn3
|
| Ensembl Gene |
ENSMUSG00000038764 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 3 |
| Synonyms |
9530011I20Rik, PTP-H1, PTPCL |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.632)
|
| Stock # |
R9500 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57205914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 693
(E693K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
|
| AlphaFold |
A2ALK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075637
AA Change: E693K
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: E693K
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
2.44e-67 |
SMART |
|
FERM_C
|
226 |
316 |
2.64e-25 |
SMART |
|
low complexity region
|
454 |
470 |
N/A |
INTRINSIC |
|
PDZ
|
519 |
598 |
1.65e-15 |
SMART |
|
PTPc
|
645 |
903 |
5.66e-117 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,265,091 (GRCm39) |
T107I |
possibly damaging |
Het |
| Acyp1 |
T |
A |
12: 85,325,786 (GRCm39) |
Y71F |
unknown |
Het |
| Akap11 |
A |
T |
14: 78,748,543 (GRCm39) |
H1281Q |
|
Het |
| Amz1 |
T |
C |
5: 140,737,975 (GRCm39) |
Y412H |
probably benign |
Het |
| Anxa10 |
C |
T |
8: 62,545,545 (GRCm39) |
M62I |
probably benign |
Het |
| Arhgap25 |
T |
C |
6: 87,469,184 (GRCm39) |
K109E |
probably damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,460,683 (GRCm39) |
E43D |
probably damaging |
Het |
| Atf6 |
T |
C |
1: 170,574,708 (GRCm39) |
M577V |
probably damaging |
Het |
| Auts2 |
C |
A |
5: 131,505,620 (GRCm39) |
A82S |
unknown |
Het |
| Bcl3 |
T |
C |
7: 19,556,602 (GRCm39) |
M1V |
probably null |
Het |
| Cblb |
T |
C |
16: 51,959,993 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
T |
C |
19: 40,797,840 (GRCm39) |
V820A |
unknown |
Het |
| Clint1 |
T |
G |
11: 45,797,194 (GRCm39) |
M425R |
possibly damaging |
Het |
| Clvs1 |
A |
G |
4: 9,429,834 (GRCm39) |
D279G |
probably damaging |
Het |
| Colec11 |
A |
C |
12: 28,645,302 (GRCm39) |
I123S |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,911,355 (GRCm39) |
E1460K |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcaf8 |
C |
G |
1: 171,999,909 (GRCm39) |
S22R |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,011,271 (GRCm39) |
S1143P |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,353,709 (GRCm39) |
I2954T |
probably benign |
Het |
| Dop1b |
C |
T |
16: 93,607,171 (GRCm39) |
P2275L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,334 (GRCm39) |
S162G |
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,686,077 (GRCm39) |
I332V |
possibly damaging |
Het |
| Eml1 |
T |
A |
12: 108,493,958 (GRCm39) |
D584E |
probably damaging |
Het |
| Eogt |
T |
C |
6: 97,096,992 (GRCm39) |
T339A |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,258,389 (GRCm39) |
T949A |
probably benign |
Het |
| Gm11568 |
GCTGCTGCCAGCCCTGCTGCCAGCCC |
GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC |
11: 99,749,044 (GRCm39) |
|
probably benign |
Het |
| Gm11568 |
AGCCC |
AGCCCTGCTGCCTGCCC |
11: 99,749,065 (GRCm39) |
|
probably benign |
Het |
| Gtpbp10 |
A |
T |
5: 5,606,120 (GRCm39) |
C88* |
probably null |
Het |
| Ifit1bl2 |
A |
T |
19: 34,596,508 (GRCm39) |
Y369* |
probably null |
Het |
| Igsf6 |
A |
G |
7: 120,673,697 (GRCm39) |
L11P |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,361,726 (GRCm39) |
I627N |
probably damaging |
Het |
| Lmo3 |
G |
T |
6: 138,393,621 (GRCm39) |
Q11K |
|
Het |
| Mical2 |
A |
T |
7: 111,936,054 (GRCm39) |
|
probably null |
Het |
| Mmp23 |
A |
G |
4: 155,736,567 (GRCm39) |
V158A |
probably benign |
Het |
| Mmp24 |
T |
C |
2: 155,654,195 (GRCm39) |
I391T |
probably damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,400 (GRCm39) |
Y175* |
probably null |
Het |
| Mrpl23 |
G |
A |
7: 142,089,859 (GRCm39) |
V65M |
probably damaging |
Het |
| Mup1 |
A |
G |
4: 60,456,488 (GRCm39) |
L85S |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,466 (GRCm39) |
L747S |
probably damaging |
Het |
| Nanog |
G |
T |
6: 122,690,219 (GRCm39) |
W208L |
probably damaging |
Het |
| Nkg7 |
A |
G |
7: 43,087,229 (GRCm39) |
Y112C |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,141,800 (GRCm39) |
D64G |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,930 (GRCm39) |
S240P |
possibly damaging |
Het |
| Palm3 |
T |
C |
8: 84,753,636 (GRCm39) |
S108P |
probably damaging |
Het |
| Pam |
T |
C |
1: 97,772,325 (GRCm39) |
N579D |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,648 (GRCm39) |
E1502G |
unknown |
Het |
| Pde4dip |
A |
G |
3: 97,795,896 (GRCm39) |
S31P |
unknown |
Het |
| Peg10 |
A |
T |
6: 4,756,871 (GRCm39) |
K482N |
unknown |
Het |
| Phf19 |
A |
T |
2: 34,801,708 (GRCm39) |
L34* |
probably null |
Het |
| Pla2g2c |
A |
T |
4: 138,461,689 (GRCm39) |
K53* |
probably null |
Het |
| Pla2g4f |
T |
A |
2: 120,142,713 (GRCm39) |
|
probably null |
Het |
| Polk |
G |
T |
13: 96,630,349 (GRCm39) |
T404K |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,657,079 (GRCm39) |
V4058D |
possibly damaging |
Het |
| Prox2 |
T |
A |
12: 85,134,851 (GRCm39) |
I477F |
probably damaging |
Het |
| Ptk6 |
A |
G |
2: 180,837,566 (GRCm39) |
V451A |
probably benign |
Het |
| Rag2 |
G |
A |
2: 101,461,217 (GRCm39) |
G509D |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,974,093 (GRCm39) |
C1418R |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,102,214 (GRCm39) |
Y716* |
probably null |
Het |
| Rsl1d1 |
T |
A |
16: 11,011,385 (GRCm39) |
T440S |
possibly damaging |
Het |
| Samd14 |
T |
A |
11: 94,914,372 (GRCm39) |
Y343* |
probably null |
Het |
| Sema3a |
A |
T |
5: 13,615,854 (GRCm39) |
D426V |
possibly damaging |
Het |
| Slc7a11 |
G |
A |
3: 50,382,201 (GRCm39) |
T182M |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,916,726 (GRCm39) |
I117V |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Stil |
A |
T |
4: 114,878,716 (GRCm39) |
H384L |
possibly damaging |
Het |
| Suclg2 |
C |
A |
6: 95,546,666 (GRCm39) |
R270L |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,065,771 (GRCm39) |
D492G |
probably damaging |
Het |
| Tes3-ps |
T |
A |
13: 49,647,815 (GRCm39) |
Y230* |
probably null |
Het |
| Ttc41 |
G |
T |
10: 86,565,726 (GRCm39) |
A427S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,553,994 (GRCm39) |
D30903G |
probably damaging |
Het |
| Txndc16 |
A |
T |
14: 45,406,798 (GRCm39) |
L219Q |
probably null |
Het |
| Usp34 |
T |
A |
11: 23,331,337 (GRCm39) |
H1098Q |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,281 (GRCm39) |
Y186F |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,359,806 (GRCm39) |
F512S |
probably damaging |
Het |
|
| Other mutations in Ptpn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Ptpn3
|
APN |
4 |
57,270,050 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01090:Ptpn3
|
APN |
4 |
57,240,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Ptpn3
|
APN |
4 |
57,225,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01413:Ptpn3
|
APN |
4 |
57,270,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01418:Ptpn3
|
APN |
4 |
57,270,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01806:Ptpn3
|
APN |
4 |
57,254,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01933:Ptpn3
|
APN |
4 |
57,197,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02087:Ptpn3
|
APN |
4 |
57,222,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Ptpn3
|
APN |
4 |
57,197,510 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02413:Ptpn3
|
APN |
4 |
57,205,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03163:Ptpn3
|
APN |
4 |
57,222,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Ptpn3
|
UTSW |
4 |
57,270,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Ptpn3
|
UTSW |
4 |
57,232,374 (GRCm39) |
missense |
probably benign |
|
|
R0240:Ptpn3
|
UTSW |
4 |
57,232,374 (GRCm39) |
missense |
probably benign |
|
|
R0310:Ptpn3
|
UTSW |
4 |
57,204,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0492:Ptpn3
|
UTSW |
4 |
57,194,304 (GRCm39) |
missense |
probably benign |
|
|
R0631:Ptpn3
|
UTSW |
4 |
57,204,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0656:Ptpn3
|
UTSW |
4 |
57,270,075 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1443:Ptpn3
|
UTSW |
4 |
57,225,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1741:Ptpn3
|
UTSW |
4 |
57,254,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Ptpn3
|
UTSW |
4 |
57,239,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:Ptpn3
|
UTSW |
4 |
57,270,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4431:Ptpn3
|
UTSW |
4 |
57,235,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4704:Ptpn3
|
UTSW |
4 |
57,270,119 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4935:Ptpn3
|
UTSW |
4 |
57,197,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Ptpn3
|
UTSW |
4 |
57,218,513 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5410:Ptpn3
|
UTSW |
4 |
57,205,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Ptpn3
|
UTSW |
4 |
57,240,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6024:Ptpn3
|
UTSW |
4 |
57,248,653 (GRCm39) |
splice site |
probably null |
|
|
R6061:Ptpn3
|
UTSW |
4 |
57,248,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6212:Ptpn3
|
UTSW |
4 |
57,270,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6213:Ptpn3
|
UTSW |
4 |
57,265,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Ptpn3
|
UTSW |
4 |
57,249,981 (GRCm39) |
missense |
probably benign |
|
|
R6444:Ptpn3
|
UTSW |
4 |
57,195,730 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6606:Ptpn3
|
UTSW |
4 |
57,265,104 (GRCm39) |
splice site |
probably null |
|
|
R6656:Ptpn3
|
UTSW |
4 |
57,205,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6730:Ptpn3
|
UTSW |
4 |
57,270,088 (GRCm39) |
missense |
probably benign |
|
|
R7133:Ptpn3
|
UTSW |
4 |
57,225,863 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7231:Ptpn3
|
UTSW |
4 |
57,245,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Ptpn3
|
UTSW |
4 |
57,239,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Ptpn3
|
UTSW |
4 |
57,221,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Ptpn3
|
UTSW |
4 |
57,240,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7742:Ptpn3
|
UTSW |
4 |
57,265,092 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8023:Ptpn3
|
UTSW |
4 |
57,248,688 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8099:Ptpn3
|
UTSW |
4 |
57,204,985 (GRCm39) |
nonsense |
probably null |
|
|
R8155:Ptpn3
|
UTSW |
4 |
57,232,336 (GRCm39) |
missense |
probably benign |
|
|
R8302:Ptpn3
|
UTSW |
4 |
57,218,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8315:Ptpn3
|
UTSW |
4 |
57,270,063 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8335:Ptpn3
|
UTSW |
4 |
57,235,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8346:Ptpn3
|
UTSW |
4 |
57,225,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8348:Ptpn3
|
UTSW |
4 |
57,240,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8448:Ptpn3
|
UTSW |
4 |
57,240,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8513:Ptpn3
|
UTSW |
4 |
57,270,085 (GRCm39) |
nonsense |
probably null |
|
|
R8846:Ptpn3
|
UTSW |
4 |
57,205,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9244:Ptpn3
|
UTSW |
4 |
57,254,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9337:Ptpn3
|
UTSW |
4 |
57,218,521 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9478:Ptpn3
|
UTSW |
4 |
57,197,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Ptpn3
|
UTSW |
4 |
57,249,957 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTATTCAGTGCCCCTTTGC -3'
(R):5'- TTGCAGCCATCTCAGACTC -3'
Sequencing Primer
(F):5'- CCTTTGCACCTCTATAAAGTGAGATC -3'
(R):5'- CATCTCAGACTCAGAACAGTTGGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation