Incidental Mutation 'R9244:Ptpn3'
| ID |
701140 |
| 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 # |
R9244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 57254915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
[ENSMUST00000153926]
|
| AlphaFold |
A2ALK8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075637
|
| SMART Domains |
Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153926
|
| SMART Domains |
Protein: ENSMUSP00000122490
Gene: ENSMUSG00000038764
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
2.44e-67 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,577 (GRCm39) |
I1147V |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,370,679 (GRCm39) |
T653A |
probably benign |
Het |
| App |
A |
G |
16: 84,759,629 (GRCm39) |
I656T |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,397,879 (GRCm39) |
I574N |
possibly damaging |
Het |
| Cdc42 |
T |
C |
4: 137,056,391 (GRCm39) |
T75A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,249,442 (GRCm39) |
K822N |
possibly damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,594 (GRCm39) |
L444I |
unknown |
Het |
| Ctnnbl1 |
G |
T |
2: 157,678,583 (GRCm39) |
K395N |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,316 (GRCm39) |
I1808K |
probably benign |
Het |
| Dnajb8 |
C |
A |
6: 88,199,884 (GRCm39) |
P140Q |
probably damaging |
Het |
| Dock5 |
G |
A |
14: 67,996,563 (GRCm39) |
R1727W |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,486,429 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Eaf1 |
T |
C |
14: 31,219,766 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,460,700 (GRCm39) |
Y207C |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,654,689 (GRCm39) |
D663G |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,265,441 (GRCm39) |
V451A |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
| Esco2 |
A |
G |
14: 66,059,088 (GRCm39) |
W530R |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,038,870 (GRCm39) |
V123A |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,248,922 (GRCm39) |
I1367T |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,348,862 (GRCm39) |
|
probably benign |
Het |
| Get1 |
A |
G |
16: 95,955,383 (GRCm39) |
T147A |
probably benign |
Het |
| Gm42669 |
A |
G |
5: 107,656,370 (GRCm39) |
T295A |
possibly damaging |
Het |
| Harbi1 |
A |
G |
2: 91,543,040 (GRCm39) |
N167S |
probably damaging |
Het |
| Hfm1 |
A |
C |
5: 107,022,766 (GRCm39) |
N945K |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,561,084 (GRCm39) |
|
probably null |
Het |
| Htr1f |
G |
T |
16: 64,746,857 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2bp2 |
A |
C |
16: 21,886,901 (GRCm39) |
S453A |
possibly damaging |
Het |
| Ipo4 |
A |
T |
14: 55,871,799 (GRCm39) |
W116R |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,015,040 (GRCm39) |
H917R |
probably benign |
Het |
| Klrb1b |
A |
T |
6: 128,792,245 (GRCm39) |
C189* |
probably null |
Het |
| Lrrn2 |
A |
G |
1: 132,865,058 (GRCm39) |
Y41C |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,865,237 (GRCm39) |
S101P |
probably damaging |
Het |
| Mcmdc2 |
C |
T |
1: 9,985,835 (GRCm39) |
T127I |
probably damaging |
Het |
| Mtch1 |
C |
A |
17: 29,566,626 (GRCm39) |
A46S |
unknown |
Het |
| Ndufb5 |
C |
A |
3: 32,795,906 (GRCm39) |
Q33K |
probably null |
Het |
| Nufip2 |
T |
C |
11: 77,583,475 (GRCm39) |
V463A |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,448,537 (GRCm39) |
I192F |
possibly damaging |
Het |
| Or5p62 |
A |
G |
7: 107,771,852 (GRCm39) |
I33T |
probably benign |
Het |
| Or6d12 |
G |
A |
6: 116,492,782 (GRCm39) |
V15I |
probably benign |
Het |
| Or8j3c |
A |
T |
2: 86,253,423 (GRCm39) |
V199E |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,226 (GRCm39) |
D472G |
unknown |
Het |
| Ppip5k1 |
A |
C |
2: 121,164,932 (GRCm39) |
S972A |
probably benign |
Het |
| Prl8a2 |
A |
T |
13: 27,534,982 (GRCm39) |
M86L |
probably benign |
Het |
| Prorsd1 |
T |
C |
11: 29,463,271 (GRCm39) |
I164V |
probably benign |
Het |
| Ptgs1 |
A |
G |
2: 36,130,724 (GRCm39) |
T208A |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,120,151 (GRCm39) |
R2834G |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,497,589 (GRCm39) |
Y373* |
probably null |
Het |
| Skor1 |
A |
T |
9: 63,049,524 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,658,249 (GRCm39) |
S591P |
probably damaging |
Het |
| Stat2 |
A |
G |
10: 128,118,634 (GRCm39) |
E389G |
possibly damaging |
Het |
| Trav14n-3 |
C |
A |
14: 53,608,004 (GRCm39) |
D111E |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,533,370 (GRCm39) |
S873G |
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,012,089 (GRCm39) |
I66V |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,589 (GRCm39) |
I273F |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,672,189 (GRCm39) |
M714K |
possibly damaging |
Het |
| Zfp235 |
A |
G |
7: 23,839,919 (GRCm39) |
T113A |
probably benign |
Het |
| Zranb1 |
T |
G |
7: 132,585,640 (GRCm39) |
L696R |
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 |
|
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 |
|
R9500:Ptpn3
|
UTSW |
4 |
57,205,914 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9710:Ptpn3
|
UTSW |
4 |
57,249,957 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCATCTGATATCCCCAAGC -3'
(R):5'- TATTCCTAGTGCCACTCGAGATTG -3'
Sequencing Primer
(F):5'- TGATATCCCCAAGCAAGACGAGAG -3'
(R):5'- CGGAGTTGCCTTGAAGATTCAATCAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation