Incidental Mutation 'R6213:Ptpn3'
| ID |
503548 |
| 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 |
044346-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.632)
|
| Stock # |
R6213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57265012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 73
(Q73K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
[ENSMUST00000130900]
[ENSMUST00000153926]
|
| AlphaFold |
A2ALK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075637
AA Change: Q73K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: Q73K
| 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: ENSMUST00000130900
|
| SMART Domains |
Protein: ENSMUSP00000114805
Gene: ENSMUSG00000038764
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
25 |
57 |
1e-15 |
BLAST |
|
SCOP:d1gg3a3
|
31 |
57 |
2e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150445
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153926
AA Change: Q73K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122490
Gene: ENSMUSG00000038764
AA Change: Q73K
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
2.44e-67 |
SMART |
|
| Meta Mutation Damage Score |
0.4918 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,762 (GRCm39) |
Y207H |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,040,765 (GRCm39) |
V335M |
probably damaging |
Het |
| Apol11b |
A |
C |
15: 77,522,200 (GRCm39) |
D32E |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdkn1b |
T |
A |
6: 134,898,206 (GRCm39) |
D108E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,359,222 (GRCm39) |
D984G |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,947,830 (GRCm39) |
V128A |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,492,656 (GRCm39) |
S3162P |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,759,978 (GRCm39) |
T1394I |
probably damaging |
Het |
| Ddx6 |
T |
A |
9: 44,539,990 (GRCm39) |
L306Q |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,996,082 (GRCm39) |
S403T |
possibly damaging |
Het |
| F11 |
G |
T |
8: 45,694,537 (GRCm39) |
T608K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,503,085 (GRCm39) |
R181H |
probably damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,771,864 (GRCm39) |
C260S |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,141 (GRCm39) |
S84T |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,724,019 (GRCm39) |
D332G |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,930,367 (GRCm39) |
Q102R |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,174 (GRCm39) |
D1597E |
probably benign |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Lypd8 |
A |
G |
11: 58,281,160 (GRCm39) |
T241A |
probably benign |
Het |
| Map1lc3a |
T |
C |
2: 155,118,935 (GRCm39) |
|
probably null |
Het |
| Mast1 |
G |
A |
8: 85,642,198 (GRCm39) |
T1052I |
probably damaging |
Het |
| Muc2 |
T |
C |
7: 141,305,151 (GRCm39) |
C152R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,903 (GRCm39) |
M2950L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,421,356 (GRCm39) |
D4282G |
possibly damaging |
Het |
| Myo16 |
G |
T |
8: 10,420,963 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,734,541 (GRCm39) |
F708I |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,353,549 (GRCm39) |
F558Y |
probably benign |
Het |
| Nat9 |
A |
T |
11: 115,075,932 (GRCm39) |
W30R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,364,390 (GRCm39) |
L1338S |
probably damaging |
Het |
| Nipsnap3b |
A |
G |
4: 53,017,066 (GRCm39) |
T97A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,132,823 (GRCm39) |
Y301* |
probably null |
Het |
| Nrcam |
C |
T |
12: 44,609,215 (GRCm39) |
P447S |
possibly damaging |
Het |
| Or14c41 |
A |
G |
7: 86,234,485 (GRCm39) |
M1V |
probably null |
Het |
| Or1o4 |
T |
C |
17: 37,591,264 (GRCm39) |
S16G |
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,821 (GRCm39) |
N194S |
possibly damaging |
Het |
| Or52b4 |
T |
C |
7: 102,184,139 (GRCm39) |
Y62H |
probably damaging |
Het |
| Pacsin3 |
G |
T |
2: 91,090,779 (GRCm39) |
V29F |
probably damaging |
Het |
| Pdzrn3 |
A |
C |
6: 101,354,805 (GRCm39) |
D15E |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,504,752 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
C |
1: 105,516,991 (GRCm39) |
V545G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,593,994 (GRCm39) |
N1373S |
possibly damaging |
Het |
| Ptchd4 |
T |
A |
17: 42,688,251 (GRCm39) |
H264Q |
probably benign |
Het |
| Ptrh1 |
G |
A |
2: 32,666,757 (GRCm39) |
V109I |
probably benign |
Het |
| Reg1 |
A |
T |
6: 78,404,386 (GRCm39) |
I87F |
possibly damaging |
Het |
| Rrp12 |
C |
A |
19: 41,857,217 (GRCm39) |
V1186L |
probably benign |
Het |
| Sall1 |
AGTGGTGGTGGTGGTGGTGGTGG |
AGTGGTGGTGGTGGTGGTGG |
8: 89,759,686 (GRCm39) |
|
probably benign |
Het |
| Slc23a3 |
A |
C |
1: 75,108,392 (GRCm39) |
F279V |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Suds3 |
A |
G |
5: 117,244,727 (GRCm39) |
L115P |
probably damaging |
Het |
| Tekt2 |
G |
A |
4: 126,216,989 (GRCm39) |
A260V |
probably damaging |
Het |
| Tgfb3 |
T |
A |
12: 86,104,621 (GRCm39) |
Y391F |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,209,950 (GRCm39) |
S866P |
probably benign |
Het |
| Tspan14 |
A |
G |
14: 40,635,372 (GRCm39) |
Y175H |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,971,332 (GRCm39) |
T568A |
probably benign |
Het |
| Vmn1r216 |
T |
G |
13: 23,283,339 (GRCm39) |
D7E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zfp281 |
T |
C |
1: 136,553,250 (GRCm39) |
V76A |
probably benign |
Het |
| Zfp36l2 |
T |
C |
17: 84,493,980 (GRCm39) |
N219S |
probably damaging |
Het |
| Zfp626 |
T |
C |
7: 27,507,717 (GRCm39) |
M42T |
probably benign |
Het |
| Zscan21 |
C |
T |
5: 138,123,359 (GRCm39) |
P13S |
probably benign |
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 |
|
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 |
|
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'- AGACAGTTTGCCGTACACCC -3'
(R):5'- TGCAAGGCAAGAAGTCAACC -3'
Sequencing Primer
(F):5'- TTGCCGTACACCCAGCGAC -3'
(R):5'- GTCAATGTAGTTTGTCTTAACCCCAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation