Incidental Mutation 'R7794:Ptpn4'
| ID |
600096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn4
|
| Ensembl Gene |
ENSMUSG00000026384 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 4 |
| Synonyms |
testis-enriched phosphatase, protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte), hPTP-MEG, TEP, PTPMEG, TEP/mPTPMEG |
| MMRRC Submission |
045850-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R7794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119653767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 275
(E275G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163179]
[ENSMUST00000163435]
|
| AlphaFold |
Q9WU22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064091
AA Change: E275G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: E275G
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
7.33e-80 |
SMART |
|
FERM_C
|
226 |
316 |
6.48e-34 |
SMART |
|
FA
|
322 |
368 |
3.28e-12 |
SMART |
|
PDZ
|
526 |
605 |
2.47e-14 |
SMART |
|
PTPc
|
654 |
913 |
1.38e-120 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163179
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163435
AA Change: E275G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
AA Change: E275G
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
7.33e-80 |
SMART |
|
FERM_C
|
226 |
316 |
6.48e-34 |
SMART |
|
FA
|
322 |
368 |
3.28e-12 |
SMART |
|
PDB:3NFL|D
|
499 |
552 |
4e-30 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164269
|
| Meta Mutation Damage Score |
0.2407 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (60/60) |
| 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. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. [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 |
|---|
| Abcb11 |
A |
T |
2: 69,117,022 (GRCm39) |
M542K |
possibly damaging |
Het |
| Abcc3 |
T |
A |
11: 94,249,697 (GRCm39) |
I1083F |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,137,352 (GRCm39) |
|
probably benign |
Het |
| Acyp1 |
G |
T |
12: 85,335,053 (GRCm39) |
A22E |
probably benign |
Het |
| Afdn |
C |
A |
17: 14,102,695 (GRCm39) |
A1090E |
probably damaging |
Het |
| Ahdc1 |
T |
G |
4: 132,791,289 (GRCm39) |
D843E |
possibly damaging |
Het |
| Bahcc1 |
G |
T |
11: 120,163,507 (GRCm39) |
E602* |
probably null |
Het |
| Bora |
A |
G |
14: 99,310,080 (GRCm39) |
T470A |
possibly damaging |
Het |
| Bzw1 |
T |
A |
1: 58,439,959 (GRCm39) |
S166T |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,719,948 (GRCm39) |
H120R |
probably damaging |
Het |
| Cstf3 |
G |
A |
2: 104,420,926 (GRCm39) |
⇒1 |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,112,459 (GRCm39) |
N1080D |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,336,233 (GRCm39) |
L91P |
probably benign |
Het |
| E2f6 |
A |
G |
12: 16,870,370 (GRCm39) |
D174G |
possibly damaging |
Het |
| Emsy |
A |
T |
7: 98,249,931 (GRCm39) |
S785R |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,663,806 (GRCm39) |
I561T |
probably damaging |
Het |
| Gabra6 |
A |
T |
11: 42,211,868 (GRCm39) |
|
probably null |
Het |
| Gm47996 |
C |
G |
1: 151,086,545 (GRCm39) |
P209A |
possibly damaging |
Het |
| Hcls1 |
A |
G |
16: 36,782,426 (GRCm39) |
E365G |
probably damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,183,548 (GRCm39) |
T166S |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,235,715 (GRCm39) |
Y1900C |
probably damaging |
Het |
| I0C0044D17Rik |
T |
C |
4: 98,708,582 (GRCm39) |
|
probably benign |
Het |
| Ifitm7 |
T |
C |
16: 13,801,610 (GRCm39) |
T50A |
probably benign |
Het |
| Igkv10-95 |
A |
G |
6: 68,657,811 (GRCm39) |
Q109R |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,541,658 (GRCm39) |
H633L |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Kmt2e |
G |
A |
5: 23,669,714 (GRCm39) |
G67D |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,541,844 (GRCm39) |
T518A |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,409,284 (GRCm39) |
I328V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,623 (GRCm39) |
I308T |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,833,247 (GRCm39) |
D284V |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,619,913 (GRCm39) |
K1488R |
unknown |
Het |
| Myom2 |
G |
A |
8: 15,133,259 (GRCm39) |
G384R |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,614,934 (GRCm39) |
Y189H |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,524,717 (GRCm39) |
A2304V |
probably benign |
Het |
| Or12e10 |
T |
A |
2: 87,640,818 (GRCm39) |
V218E |
probably damaging |
Het |
| Or14c46 |
T |
A |
7: 85,918,341 (GRCm39) |
I219L |
probably damaging |
Het |
| Or14j5 |
A |
T |
17: 38,161,678 (GRCm39) |
Q65L |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,738,782 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,152,396 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,485 (GRCm39) |
R4G |
probably benign |
Het |
| Poc1b |
A |
G |
10: 98,965,460 (GRCm39) |
S130G |
possibly damaging |
Het |
| Psme2b |
A |
G |
11: 48,836,683 (GRCm39) |
V88A |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,640,090 (GRCm39) |
T183M |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,134,762 (GRCm39) |
L119* |
probably null |
Het |
| Rep15 |
T |
A |
6: 146,934,638 (GRCm39) |
I159N |
probably damaging |
Het |
| Rps6kc1 |
T |
C |
1: 190,515,825 (GRCm39) |
E967G |
probably benign |
Het |
| Rptn |
G |
A |
3: 93,303,036 (GRCm39) |
R123K |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,594,580 (GRCm39) |
V1271D |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,358,153 (GRCm39) |
I696N |
probably damaging |
Het |
| Slc25a12 |
T |
C |
2: 71,141,852 (GRCm39) |
E267G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,898,133 (GRCm39) |
M527K |
probably benign |
Het |
| Spata31e4 |
C |
G |
13: 50,856,344 (GRCm39) |
P661A |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,365,514 (GRCm39) |
S632T |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Synrg |
G |
T |
11: 83,910,400 (GRCm39) |
M933I |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,222,551 (GRCm39) |
I89F |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,133,028 (GRCm39) |
|
probably null |
Het |
| Usp30 |
T |
A |
5: 114,251,033 (GRCm39) |
C237* |
probably null |
Het |
| Xpo6 |
G |
T |
7: 125,760,035 (GRCm39) |
T188K |
probably damaging |
Het |
| Zfp382 |
G |
A |
7: 29,831,035 (GRCm39) |
S108N |
possibly damaging |
Het |
| Zfp820 |
A |
C |
17: 22,039,109 (GRCm39) |
V73G |
probably damaging |
Het |
|
| Other mutations in Ptpn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Ptpn4
|
APN |
1 |
119,587,655 (GRCm39) |
splice site |
probably benign |
|
|
IGL00885:Ptpn4
|
APN |
1 |
119,730,093 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00973:Ptpn4
|
APN |
1 |
119,669,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01867:Ptpn4
|
APN |
1 |
119,603,329 (GRCm39) |
missense |
probably benign |
|
|
IGL01870:Ptpn4
|
APN |
1 |
119,603,277 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02101:Ptpn4
|
APN |
1 |
119,615,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02344:Ptpn4
|
APN |
1 |
119,700,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02348:Ptpn4
|
APN |
1 |
119,610,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02693:Ptpn4
|
APN |
1 |
119,643,699 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03281:Ptpn4
|
APN |
1 |
119,587,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
alto
|
UTSW |
1 |
119,612,311 (GRCm39) |
nonsense |
probably null |
|
|
blinding
|
UTSW |
1 |
119,649,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
botched
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bungled
|
UTSW |
1 |
119,615,335 (GRCm39) |
splice site |
probably null |
|
|
Fovea
|
UTSW |
1 |
119,606,552 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
hash
|
UTSW |
1 |
119,693,649 (GRCm39) |
nonsense |
probably null |
|
|
Hoechter
|
UTSW |
1 |
119,607,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lumens
|
UTSW |
1 |
119,595,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:Ptpn4
|
UTSW |
1 |
119,607,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB018:Ptpn4
|
UTSW |
1 |
119,607,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0105:Ptpn4
|
UTSW |
1 |
119,615,335 (GRCm39) |
splice site |
probably null |
|
|
R0105:Ptpn4
|
UTSW |
1 |
119,615,335 (GRCm39) |
splice site |
probably null |
|
|
R0504:Ptpn4
|
UTSW |
1 |
119,693,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Ptpn4
|
UTSW |
1 |
119,612,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1148:Ptpn4
|
UTSW |
1 |
119,612,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1148:Ptpn4
|
UTSW |
1 |
119,603,439 (GRCm39) |
splice site |
probably benign |
|
|
R1662:Ptpn4
|
UTSW |
1 |
119,692,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1694:Ptpn4
|
UTSW |
1 |
119,711,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1733:Ptpn4
|
UTSW |
1 |
119,643,773 (GRCm39) |
splice site |
probably null |
|
|
R2083:Ptpn4
|
UTSW |
1 |
119,615,489 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2226:Ptpn4
|
UTSW |
1 |
119,610,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Ptpn4
|
UTSW |
1 |
119,612,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2277:Ptpn4
|
UTSW |
1 |
119,612,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3123:Ptpn4
|
UTSW |
1 |
119,693,153 (GRCm39) |
splice site |
probably null |
|
|
R3425:Ptpn4
|
UTSW |
1 |
119,635,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4568:Ptpn4
|
UTSW |
1 |
119,607,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Ptpn4
|
UTSW |
1 |
119,649,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4819:Ptpn4
|
UTSW |
1 |
119,587,580 (GRCm39) |
missense |
probably benign |
|
|
R4959:Ptpn4
|
UTSW |
1 |
119,692,826 (GRCm39) |
nonsense |
probably null |
|
|
R5161:Ptpn4
|
UTSW |
1 |
119,635,593 (GRCm39) |
nonsense |
probably null |
|
|
R5345:Ptpn4
|
UTSW |
1 |
119,693,207 (GRCm39) |
missense |
probably benign |
|
|
R5471:Ptpn4
|
UTSW |
1 |
119,693,649 (GRCm39) |
nonsense |
probably null |
|
|
R5826:Ptpn4
|
UTSW |
1 |
119,612,246 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5933:Ptpn4
|
UTSW |
1 |
119,615,453 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6075:Ptpn4
|
UTSW |
1 |
119,692,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6286:Ptpn4
|
UTSW |
1 |
119,649,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6389:Ptpn4
|
UTSW |
1 |
119,649,684 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6392:Ptpn4
|
UTSW |
1 |
119,700,853 (GRCm39) |
missense |
probably benign |
|
|
R6769:Ptpn4
|
UTSW |
1 |
119,643,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6771:Ptpn4
|
UTSW |
1 |
119,643,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6794:Ptpn4
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6933:Ptpn4
|
UTSW |
1 |
119,700,878 (GRCm39) |
intron |
probably benign |
|
|
R6967:Ptpn4
|
UTSW |
1 |
119,612,311 (GRCm39) |
nonsense |
probably null |
|
|
R6980:Ptpn4
|
UTSW |
1 |
119,671,151 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7150:Ptpn4
|
UTSW |
1 |
119,619,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7247:Ptpn4
|
UTSW |
1 |
119,617,764 (GRCm39) |
makesense |
probably null |
|
|
R7283:Ptpn4
|
UTSW |
1 |
119,610,261 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7459:Ptpn4
|
UTSW |
1 |
119,587,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7732:Ptpn4
|
UTSW |
1 |
119,620,532 (GRCm39) |
missense |
probably benign |
|
|
R8061:Ptpn4
|
UTSW |
1 |
119,619,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8236:Ptpn4
|
UTSW |
1 |
119,606,552 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8929:Ptpn4
|
UTSW |
1 |
119,595,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Ptpn4
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Ptpn4
|
UTSW |
1 |
119,730,114 (GRCm39) |
missense |
probably benign |
|
|
RF014:Ptpn4
|
UTSW |
1 |
119,612,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCAGCCTATGTCTGCCTC -3'
(R):5'- TTAGTTTTATAGGAAGCACCATGTG -3'
Sequencing Primer
(F):5'- ATGTCTGCCTCCTCATTGTCAG -3'
(R):5'- ACTTCAAAGCGAGTTGGGGTTAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation