Incidental Mutation 'R8315:Ptpn3'
| ID |
641621 |
| 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 |
067720-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.569)
|
| Stock # |
R8315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57270063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 33
(I33K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
[ENSMUST00000130900]
[ENSMUST00000151964]
[ENSMUST00000153926]
|
| AlphaFold |
A2ALK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075637
AA Change: I33K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: I33K
| 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 |
possibly damaging
Transcript: ENSMUST00000130900
AA Change: I33K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114805
Gene: ENSMUSG00000038764
AA Change: I33K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
25 |
57 |
1e-15 |
BLAST |
|
SCOP:d1gg3a3
|
31 |
57 |
2e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151964
AA Change: I33K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153926
AA Change: I33K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122490
Gene: ENSMUSG00000038764
AA Change: I33K
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
2.44e-67 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,328,460 (GRCm39) |
E3511V |
probably null |
Het |
| Abca13 |
A |
G |
11: 9,535,502 (GRCm39) |
T4709A |
probably benign |
Het |
| Aff1 |
G |
T |
5: 103,958,956 (GRCm39) |
V342F |
probably damaging |
Het |
| Ahnak2 |
T |
A |
12: 112,745,756 (GRCm39) |
Q1698L |
|
Het |
| Ajap1 |
G |
T |
4: 153,516,813 (GRCm39) |
T176K |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Cct3 |
A |
G |
3: 88,220,564 (GRCm39) |
T259A |
probably benign |
Het |
| Cdk8 |
C |
T |
5: 146,205,061 (GRCm39) |
L21F |
probably damaging |
Het |
| Cimip4 |
T |
C |
15: 78,262,686 (GRCm39) |
R262G |
probably benign |
Het |
| Csf2rb |
G |
A |
15: 78,231,581 (GRCm39) |
G494D |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,420,926 (GRCm39) |
|
probably benign |
Het |
| Cyp4f39 |
A |
G |
17: 32,701,176 (GRCm39) |
D222G |
probably benign |
Het |
| Dcp2 |
T |
C |
18: 44,529,071 (GRCm39) |
I62T |
probably benign |
Het |
| Dnaaf9 |
ATCCTCCTCCTCCTCCTCC |
ATCCTCCTCCTCCTCC |
2: 130,612,655 (GRCm39) |
|
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,988,133 (GRCm39) |
*893Q |
probably null |
Het |
| Dpyd |
A |
T |
3: 119,108,534 (GRCm39) |
H859L |
probably benign |
Het |
| Dst |
T |
C |
1: 34,323,501 (GRCm39) |
|
probably null |
Het |
| Dynlt2a2 |
A |
G |
17: 15,190,717 (GRCm39) |
Y81H |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,825,027 (GRCm39) |
I456V |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,184,314 (GRCm39) |
F185L |
probably benign |
Het |
| Emx1 |
A |
G |
6: 85,171,088 (GRCm39) |
T164A |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,891,041 (GRCm39) |
V2857M |
probably damaging |
Het |
| Gba2 |
AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA |
AAA |
4: 43,569,937 (GRCm39) |
|
probably null |
Het |
| Gda |
T |
A |
19: 21,394,435 (GRCm39) |
T215S |
probably benign |
Het |
| Gm14443 |
C |
T |
2: 175,013,640 (GRCm39) |
|
probably null |
Het |
| Gpr152 |
C |
T |
19: 4,193,469 (GRCm39) |
P337S |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,429,905 (GRCm39) |
I296T |
probably benign |
Het |
| Hoxd11 |
G |
A |
2: 74,513,466 (GRCm39) |
E244K |
probably benign |
Het |
| Inka1 |
C |
A |
9: 107,861,506 (GRCm39) |
S270I |
probably damaging |
Het |
| Kazn |
C |
T |
4: 141,869,002 (GRCm39) |
D325N |
|
Het |
| Lama2 |
T |
C |
10: 27,298,655 (GRCm39) |
N147S |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,119,167 (GRCm39) |
N817K |
probably benign |
Het |
| Met |
T |
C |
6: 17,533,956 (GRCm39) |
S636P |
probably damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,251,051 (GRCm39) |
M1K |
probably null |
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Or10ag2 |
C |
A |
2: 87,248,995 (GRCm39) |
A201D |
probably damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
| Or8c13 |
T |
C |
9: 38,091,505 (GRCm39) |
T205A |
probably benign |
Het |
| Pbx2 |
A |
G |
17: 34,811,707 (GRCm39) |
I60M |
probably damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,761,965 (GRCm39) |
N164S |
probably benign |
Het |
| Poln |
A |
G |
5: 34,266,717 (GRCm39) |
M480T |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,261,177 (GRCm39) |
N181S |
probably damaging |
Het |
| Ppp3r2 |
A |
C |
4: 49,681,705 (GRCm39) |
F82V |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,142,182 (GRCm39) |
V7A |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,497,160 (GRCm39) |
M318K |
probably benign |
Het |
| Rftn1 |
A |
G |
17: 50,309,665 (GRCm39) |
S445P |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Rtp4 |
C |
T |
16: 23,431,998 (GRCm39) |
P177S |
possibly damaging |
Het |
| Saa4 |
T |
A |
7: 46,379,052 (GRCm39) |
N96I |
possibly damaging |
Het |
| Shb |
A |
G |
4: 45,489,079 (GRCm39) |
Y266H |
probably damaging |
Het |
| Slc45a4 |
T |
G |
15: 73,461,405 (GRCm39) |
Y88S |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,564 (GRCm39) |
M312T |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,299,121 (GRCm39) |
|
probably null |
Het |
| Tle1 |
A |
T |
4: 72,044,428 (GRCm39) |
C526* |
probably null |
Het |
| Tmem87a |
C |
T |
2: 120,234,441 (GRCm39) |
G34D |
probably damaging |
Het |
| Trav13d-1 |
C |
A |
14: 53,089,059 (GRCm39) |
Q23K |
probably benign |
Het |
| Txndc11 |
G |
T |
16: 10,893,465 (GRCm39) |
T755N |
possibly damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,434,339 (GRCm39) |
D311G |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,643,932 (GRCm39) |
Y826F |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 26,064,399 (GRCm39) |
M1824K |
probably benign |
Het |
| Zfp523 |
G |
A |
17: 28,421,562 (GRCm39) |
G440D |
possibly 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 |
|
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 |
|
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'- GCCATCAACCTTAGAAGATGC -3'
(R):5'- GCTGTGTAAGGCCTGATTGC -3'
Sequencing Primer
(F):5'- CCTTAGAAGATGCCAACAGATTC -3'
(R):5'- CTGATTGCCTGCCTGGAAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation