Incidental Mutation 'R7150:Ptpn4'
| ID |
554037 |
| 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 |
045252-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R7150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 119619475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163435]
[ENSMUST00000166624]
|
| AlphaFold |
Q9WU22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064091
|
| SMART Domains |
Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
| 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 null
Transcript: ENSMUST00000163435
|
| SMART Domains |
Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166624
|
| SMART Domains |
Protein: ENSMUSP00000126216
Gene: ENSMUSG00000026384
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTPc
|
1 |
65 |
1e-34 |
BLAST |
|
PDB:2I75|A
|
15 |
67 |
2e-28 |
PDB |
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
T |
C |
8: 125,589,653 (GRCm39) |
D20G |
possibly damaging |
Het |
| 5430401F13Rik |
T |
C |
6: 131,529,630 (GRCm39) |
S75P |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,889,750 (GRCm39) |
F315I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,118,904 (GRCm39) |
Y1085C |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,693,382 (GRCm39) |
K179R |
probably damaging |
Het |
| Arhgap10 |
C |
T |
8: 77,977,583 (GRCm39) |
G776R |
probably damaging |
Het |
| Arhgap35 |
A |
C |
7: 16,296,491 (GRCm39) |
F858C |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,984,381 (GRCm39) |
R2957W |
probably damaging |
Het |
| Atp6ap1l |
G |
T |
13: 91,031,848 (GRCm39) |
A278E |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,643,521 (GRCm39) |
D309E |
probably damaging |
Het |
| Casd1 |
C |
T |
6: 4,624,211 (GRCm39) |
R335C |
probably benign |
Het |
| Ceacam3 |
A |
G |
7: 16,885,487 (GRCm39) |
Q30R |
|
Het |
| Cfap20 |
C |
T |
8: 96,148,795 (GRCm39) |
C119Y |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,055,457 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
G |
5: 9,037,878 (GRCm39) |
V146A |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,591 (GRCm39) |
S199G |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,895,263 (GRCm39) |
L69Q |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,583,689 (GRCm39) |
F3195L |
probably damaging |
Het |
| Dpy19l3 |
A |
T |
7: 35,408,055 (GRCm39) |
D450E |
probably benign |
Het |
| Ercc3 |
A |
T |
18: 32,390,325 (GRCm39) |
N538I |
probably damaging |
Het |
| Fzd1 |
A |
T |
5: 4,806,145 (GRCm39) |
V479E |
probably benign |
Het |
| Gart |
T |
C |
16: 91,425,351 (GRCm39) |
Y638C |
possibly damaging |
Het |
| Gm2381 |
C |
A |
7: 42,469,888 (GRCm39) |
V79L |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,950,469 (GRCm39) |
Y312C |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,609,045 (GRCm39) |
M1L |
probably benign |
Het |
| Ip6k2 |
A |
G |
9: 108,673,930 (GRCm39) |
I99V |
unknown |
Het |
| Itgb5 |
C |
T |
16: 33,761,013 (GRCm39) |
T616I |
probably benign |
Het |
| Kmt2c |
A |
C |
5: 25,505,360 (GRCm39) |
V3316G |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,601,346 (GRCm39) |
R1008C |
probably damaging |
Het |
| Lin54 |
T |
C |
5: 100,633,159 (GRCm39) |
D175G |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,318,395 (GRCm39) |
S2019P |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,513,726 (GRCm39) |
E528G |
probably benign |
Het |
| Lyz3 |
T |
C |
10: 117,073,647 (GRCm39) |
N62S |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,364,565 (GRCm39) |
H299R |
probably damaging |
Het |
| Myo19 |
G |
A |
11: 84,796,439 (GRCm39) |
G684R |
probably benign |
Het |
| Or14c45 |
A |
C |
7: 86,176,322 (GRCm39) |
D119A |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,408,145 (GRCm39) |
M34L |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,709,143 (GRCm39) |
C724F |
probably benign |
Het |
| Pcdha3 |
A |
T |
18: 37,080,165 (GRCm39) |
K302N |
probably benign |
Het |
| Pcdhgb2 |
T |
C |
18: 37,825,300 (GRCm39) |
F764L |
possibly damaging |
Het |
| Pik3cb |
C |
A |
9: 98,975,143 (GRCm39) |
G246W |
probably damaging |
Het |
| Polr2m |
A |
T |
9: 71,390,626 (GRCm39) |
I192N |
probably damaging |
Het |
| Polr2m |
G |
T |
9: 71,390,815 (GRCm39) |
T129K |
probably benign |
Het |
| Pramel48 |
A |
G |
5: 95,630,680 (GRCm39) |
I186V |
possibly damaging |
Het |
| Scgb1b19 |
A |
T |
7: 32,986,940 (GRCm39) |
K30N |
possibly damaging |
Het |
| Shpk |
A |
G |
11: 73,104,315 (GRCm39) |
T155A |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,461,546 (GRCm39) |
Y261H |
probably damaging |
Het |
| Sox13 |
A |
G |
1: 133,313,243 (GRCm39) |
F438L |
possibly damaging |
Het |
| Sphk1 |
A |
T |
11: 116,425,907 (GRCm39) |
E61D |
probably benign |
Het |
| St18 |
A |
G |
1: 6,873,243 (GRCm39) |
D326G |
probably damaging |
Het |
| Syde1 |
G |
A |
10: 78,422,032 (GRCm39) |
Q566* |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,330,807 (GRCm39) |
T254A |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,926,017 (GRCm39) |
N181K |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 56,931,509 (GRCm39) |
I730K |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,776,926 (GRCm39) |
M377K |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,305,898 (GRCm39) |
N508S |
probably benign |
Het |
| Vmp1 |
A |
T |
11: 86,477,402 (GRCm39) |
S333T |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,578,854 (GRCm39) |
M639K |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
probably null |
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 |
|
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 |
|
|
R7794:Ptpn4
|
UTSW |
1 |
119,653,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAACACGATTAGATAAAATGTGGGAT -3'
(R):5'- TGTGTATGGAAGTTATTGGGCAAA -3'
Sequencing Primer
(F):5'- AATGTGGGATAACTTACAGGTGTTCC -3'
(R):5'- GGGCAAAGAAACTATTTTCCTCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation