Incidental Mutation 'R4394:Ptpn9'
| ID |
326541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn9
|
| Ensembl Gene |
ENSMUSG00000032290 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 9 |
| Synonyms |
Meg2 |
| MMRRC Submission |
041683-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.563)
|
| Stock # |
R4394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
56902252-56970092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56943847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 126
(K126N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034832]
[ENSMUST00000216034]
|
| AlphaFold |
O35239 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034832
AA Change: K240N
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034832
Gene: ENSMUSG00000032290
AA Change: K240N
| Domain | Start | End | E-Value | Type |
|---|
|
CRAL_TRIO_N
|
43 |
68 |
1.14e0 |
SMART |
|
SEC14
|
90 |
240 |
7.33e-40 |
SMART |
|
PTPc
|
302 |
576 |
1.01e-136 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216034
AA Change: K126N
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0779 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
99% (69/70) |
| 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 PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display hemorrhages, craniofacial anomalies, neural tube defects such as exencephaly and meningomyeloceles, cerebral infarctions, abnormal bone development, and >90% late embryonic lethality in addition to severe defectsin T lymphocyte and platelet activation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,566 (GRCm39) |
F391L |
probably damaging |
Het |
| AC140205.10 |
C |
A |
8: 21,323,181 (GRCm39) |
T192K |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,329,557 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 85,965,124 (GRCm39) |
N855K |
possibly damaging |
Het |
| Ces2f |
A |
G |
8: 105,677,586 (GRCm39) |
N197S |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,098,581 (GRCm39) |
T1520A |
probably damaging |
Het |
| Cltc |
A |
C |
11: 86,624,456 (GRCm39) |
N159K |
probably damaging |
Het |
| Cntn1 |
C |
T |
15: 92,189,645 (GRCm39) |
T656I |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
| Dzip1l |
T |
A |
9: 99,521,907 (GRCm39) |
L181H |
probably damaging |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,834,088 (GRCm39) |
I4168T |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,061,398 (GRCm39) |
D117G |
probably benign |
Het |
| Gm8122 |
A |
G |
14: 43,091,525 (GRCm39) |
L81P |
unknown |
Het |
| Hal |
T |
C |
10: 93,332,421 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,823,949 (GRCm39) |
Y715* |
probably null |
Het |
| Hid1 |
T |
A |
11: 115,258,468 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
A |
9: 44,293,169 (GRCm39) |
V125E |
probably damaging |
Het |
| Jrkl |
G |
A |
9: 13,245,146 (GRCm39) |
Q172* |
probably null |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Lman2l |
A |
C |
1: 36,478,804 (GRCm39) |
C103G |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,890,276 (GRCm39) |
S522P |
probably damaging |
Het |
| Mark3 |
A |
T |
12: 111,570,957 (GRCm39) |
I86L |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mgst2 |
G |
A |
3: 51,571,949 (GRCm39) |
V26I |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,077,525 (GRCm39) |
Y158* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,391,345 (GRCm39) |
I210V |
probably benign |
Het |
| Or7g18 |
A |
T |
9: 18,786,907 (GRCm39) |
I95L |
probably damaging |
Het |
| Or8j3b |
C |
T |
2: 86,205,523 (GRCm39) |
A78T |
possibly damaging |
Het |
| Pcdhb8 |
C |
T |
18: 37,489,935 (GRCm39) |
P538S |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,278,376 (GRCm39) |
D295G |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,263,854 (GRCm39) |
Y286C |
probably damaging |
Het |
| Psen2 |
A |
T |
1: 180,068,347 (GRCm39) |
V102E |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,046,922 (GRCm39) |
I435T |
probably damaging |
Het |
| Rab39 |
T |
C |
9: 53,597,950 (GRCm39) |
K105R |
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,745,267 (GRCm39) |
R840L |
probably benign |
Het |
| Rps6ka5 |
T |
A |
12: 100,547,578 (GRCm39) |
I311F |
probably damaging |
Het |
| Ryr1 |
G |
T |
7: 28,793,667 (GRCm39) |
T1267K |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,863,482 (GRCm39) |
T252I |
probably damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,612,312 (GRCm39) |
S201C |
probably damaging |
Het |
| Slitrk1 |
A |
C |
14: 109,148,735 (GRCm39) |
S659A |
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,488,715 (GRCm39) |
M880K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,713 (GRCm39) |
T320I |
probably benign |
Het |
| Tex44 |
T |
C |
1: 86,355,489 (GRCm39) |
V466A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Tpst1 |
T |
A |
5: 130,131,343 (GRCm39) |
M271K |
probably benign |
Het |
| Trank1 |
C |
T |
9: 111,194,265 (GRCm39) |
T763I |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,703,462 (GRCm39) |
H729Q |
probably damaging |
Het |
| Tshz3 |
A |
T |
7: 36,469,030 (GRCm39) |
T340S |
probably damaging |
Het |
| Ttc5 |
T |
C |
14: 51,018,962 (GRCm39) |
K52E |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Wsb2 |
T |
G |
5: 117,501,643 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ptpn9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01072:Ptpn9
|
APN |
9 |
56,943,987 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01388:Ptpn9
|
APN |
9 |
56,944,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01953:Ptpn9
|
APN |
9 |
56,964,072 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02525:Ptpn9
|
APN |
9 |
56,944,009 (GRCm39) |
nonsense |
probably null |
|
|
IGL03294:Ptpn9
|
APN |
9 |
56,934,671 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
BB009:Ptpn9
|
UTSW |
9 |
56,943,900 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
BB019:Ptpn9
|
UTSW |
9 |
56,943,900 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
PIT4486001:Ptpn9
|
UTSW |
9 |
56,968,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0530:Ptpn9
|
UTSW |
9 |
56,968,417 (GRCm39) |
missense |
probably benign |
|
|
R1617:Ptpn9
|
UTSW |
9 |
56,934,692 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1964:Ptpn9
|
UTSW |
9 |
56,967,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Ptpn9
|
UTSW |
9 |
56,934,712 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4606:Ptpn9
|
UTSW |
9 |
56,929,495 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4658:Ptpn9
|
UTSW |
9 |
56,927,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4660:Ptpn9
|
UTSW |
9 |
56,943,782 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5141:Ptpn9
|
UTSW |
9 |
56,943,960 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5150:Ptpn9
|
UTSW |
9 |
56,943,954 (GRCm39) |
missense |
probably benign |
|
|
R5289:Ptpn9
|
UTSW |
9 |
56,967,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5389:Ptpn9
|
UTSW |
9 |
56,964,121 (GRCm39) |
intron |
probably benign |
|
|
R5422:Ptpn9
|
UTSW |
9 |
56,940,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Ptpn9
|
UTSW |
9 |
56,927,321 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6075:Ptpn9
|
UTSW |
9 |
56,968,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6084:Ptpn9
|
UTSW |
9 |
56,940,447 (GRCm39) |
nonsense |
probably null |
|
|
R6481:Ptpn9
|
UTSW |
9 |
56,930,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Ptpn9
|
UTSW |
9 |
56,967,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Ptpn9
|
UTSW |
9 |
56,929,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7195:Ptpn9
|
UTSW |
9 |
56,929,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7349:Ptpn9
|
UTSW |
9 |
56,951,660 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7439:Ptpn9
|
UTSW |
9 |
56,934,717 (GRCm39) |
nonsense |
probably null |
|
|
R7441:Ptpn9
|
UTSW |
9 |
56,934,717 (GRCm39) |
nonsense |
probably null |
|
|
R7801:Ptpn9
|
UTSW |
9 |
56,968,297 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7879:Ptpn9
|
UTSW |
9 |
56,964,010 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7932:Ptpn9
|
UTSW |
9 |
56,943,900 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9323:Ptpn9
|
UTSW |
9 |
56,934,701 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9433:Ptpn9
|
UTSW |
9 |
56,964,010 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9614:Ptpn9
|
UTSW |
9 |
56,944,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAACCTAGTAGAAGCACATTTG -3'
(R):5'- CAGGGTTCTCACGACGAATG -3'
Sequencing Primer
(F):5'- CAGCCCAAGTACTCAATG -3'
(R):5'- AGGGTTCTCACGACGAATGTCTTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation