Incidental Mutation 'R6939:Ptprj'
| ID |
540410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprj
|
| Ensembl Gene |
ENSMUSG00000025314 |
| Gene Name |
protein tyrosine phosphatase receptor type J |
| Synonyms |
Byp, RPTPJ, Scc1, CD148, DEP-1, Scc-1 |
| MMRRC Submission |
045053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R6939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90289858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 707
(T707A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111493]
[ENSMUST00000111495]
[ENSMUST00000168621]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111493
AA Change: T521A
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: T521A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
FN3
|
47 |
182 |
3.76e-6 |
SMART |
|
FN3
|
194 |
271 |
4.56e-5 |
SMART |
|
FN3
|
282 |
357 |
5.32e-6 |
SMART |
|
FN3
|
368 |
446 |
2.19e-7 |
SMART |
|
FN3
|
455 |
531 |
5e-2 |
SMART |
|
FN3
|
546 |
628 |
2.77e1 |
SMART |
|
low complexity region
|
637 |
650 |
N/A |
INTRINSIC |
|
Blast:PTPc
|
714 |
797 |
8e-26 |
BLAST |
|
PTPc
|
867 |
1127 |
3.37e-133 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111495
AA Change: T614A
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: T614A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
FN3
|
59 |
131 |
2.85e-6 |
SMART |
|
FN3
|
140 |
275 |
3.76e-6 |
SMART |
|
FN3
|
287 |
364 |
4.56e-5 |
SMART |
|
FN3
|
375 |
450 |
5.32e-6 |
SMART |
|
FN3
|
461 |
539 |
2.19e-7 |
SMART |
|
FN3
|
548 |
624 |
5e-2 |
SMART |
|
FN3
|
639 |
721 |
2.77e1 |
SMART |
|
low complexity region
|
730 |
743 |
N/A |
INTRINSIC |
|
Blast:PTPc
|
807 |
890 |
1e-25 |
BLAST |
|
PTPc
|
960 |
1220 |
3.37e-133 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168621
AA Change: T707A
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: T707A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
140 |
N/A |
INTRINSIC |
|
FN3
|
152 |
224 |
2.85e-6 |
SMART |
|
FN3
|
233 |
368 |
3.76e-6 |
SMART |
|
FN3
|
380 |
457 |
4.56e-5 |
SMART |
|
FN3
|
468 |
543 |
5.32e-6 |
SMART |
|
FN3
|
554 |
632 |
2.19e-7 |
SMART |
|
FN3
|
641 |
717 |
5e-2 |
SMART |
|
FN3
|
732 |
814 |
2.77e1 |
SMART |
|
low complexity region
|
823 |
836 |
N/A |
INTRINSIC |
|
Blast:PTPc
|
900 |
983 |
1e-25 |
BLAST |
|
PTPc
|
1053 |
1313 |
3.37e-133 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
99% (66/67) |
| 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 possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die in utero displaying severe growth retardation and cardiovascular defects. Homozygotes for a second null allele are viable, fertile and healthy with no spontaneous tumor formation. Homozygotes for a third null allele show sterility and a block B cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
G |
A |
15: 60,792,244 (GRCm39) |
P128L |
probably damaging |
Het |
| Acsm3 |
T |
C |
7: 119,377,678 (GRCm39) |
V401A |
probably damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,594,227 (GRCm39) |
N93K |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,489,760 (GRCm39) |
|
probably null |
Het |
| Camk2a |
A |
G |
18: 61,091,226 (GRCm39) |
E236G |
probably damaging |
Het |
| Cav2 |
C |
A |
6: 17,281,410 (GRCm39) |
D17E |
possibly damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,533,607 (GRCm39) |
S520G |
probably benign |
Het |
| Chd4 |
C |
A |
6: 125,083,501 (GRCm39) |
H674Q |
probably damaging |
Het |
| Clrn2 |
A |
T |
5: 45,611,096 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
A |
C |
11: 101,077,337 (GRCm39) |
I1000L |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,631,778 (GRCm39) |
T140A |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,966,208 (GRCm39) |
|
probably null |
Het |
| Dcdc2c |
G |
T |
12: 28,591,496 (GRCm39) |
Q131K |
probably benign |
Het |
| Dmpk |
T |
A |
7: 18,822,149 (GRCm39) |
V369E |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,070,297 (GRCm39) |
W1503R |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,120,945 (GRCm39) |
F625L |
possibly damaging |
Het |
| Dok2 |
T |
C |
14: 71,013,045 (GRCm39) |
V71A |
probably benign |
Het |
| Dqx1 |
A |
T |
6: 83,036,446 (GRCm39) |
Q150L |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,304,189 (GRCm39) |
I740T |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,143,300 (GRCm39) |
W4183* |
probably null |
Het |
| Fkrp |
C |
T |
7: 16,545,751 (GRCm39) |
R37Q |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,341,774 (GRCm39) |
K1356E |
probably benign |
Het |
| Fus |
A |
T |
7: 127,571,741 (GRCm39) |
|
probably benign |
Het |
| Gabarapl2 |
C |
A |
8: 112,669,201 (GRCm39) |
S53* |
probably null |
Het |
| Gjd3 |
A |
C |
11: 102,691,733 (GRCm39) |
M90R |
probably damaging |
Het |
| Gm30083 |
C |
T |
14: 33,725,557 (GRCm39) |
|
probably null |
Het |
| Gm7356 |
T |
A |
17: 14,221,387 (GRCm39) |
Y214F |
probably benign |
Het |
| Hexd |
A |
T |
11: 121,113,164 (GRCm39) |
D533V |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,414,930 (GRCm39) |
A1364V |
probably damaging |
Het |
| Ighmbp2 |
A |
T |
19: 3,326,907 (GRCm39) |
F186Y |
probably damaging |
Het |
| Inpp5e |
C |
A |
2: 26,297,774 (GRCm39) |
|
probably null |
Het |
| Iqcb1 |
A |
G |
16: 36,660,274 (GRCm39) |
T146A |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,297,588 (GRCm39) |
W284R |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,593,824 (GRCm39) |
M71K |
probably damaging |
Het |
| Ksr2 |
T |
A |
5: 117,903,626 (GRCm39) |
*952R |
probably null |
Het |
| Ldlrap1 |
C |
A |
4: 134,495,285 (GRCm39) |
|
probably benign |
Het |
| Mpdu1 |
G |
A |
11: 69,548,881 (GRCm39) |
|
probably benign |
Het |
| Mrgprh |
A |
T |
17: 13,095,822 (GRCm39) |
T21S |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,549,833 (GRCm39) |
T5487S |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,490,737 (GRCm39) |
|
probably null |
Het |
| Napa |
T |
C |
7: 15,849,182 (GRCm39) |
C241R |
possibly damaging |
Het |
| Or10ab4 |
C |
A |
7: 107,654,312 (GRCm39) |
A41E |
possibly damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,598,187 (GRCm39) |
T18A |
possibly damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,648 (GRCm39) |
Y95* |
probably null |
Het |
| Pla2g4f |
A |
T |
2: 120,137,782 (GRCm39) |
L326Q |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,675,366 (GRCm39) |
T487A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,787,291 (GRCm39) |
Y1029N |
probably damaging |
Het |
| Raet1e |
T |
A |
10: 22,050,256 (GRCm39) |
M13K |
possibly damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
| Rmi1 |
A |
G |
13: 58,557,169 (GRCm39) |
I473V |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,815,437 (GRCm39) |
F186L |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,751,751 (GRCm39) |
M3672L |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,431,949 (GRCm39) |
C890S |
possibly damaging |
Het |
| Spata31d1e |
T |
A |
13: 59,889,872 (GRCm39) |
K231N |
possibly damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,185,024 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,259,293 (GRCm39) |
N1530S |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,676,656 (GRCm39) |
S54G |
possibly damaging |
Het |
| Tnk2 |
T |
C |
16: 32,482,696 (GRCm39) |
V41A |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,045 (GRCm39) |
T462A |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,556,847 (GRCm39) |
T61A |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,713,724 (GRCm39) |
N17D |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,473 (GRCm39) |
C514* |
probably null |
Het |
| Zfp866 |
G |
T |
8: 70,218,871 (GRCm39) |
Q250K |
probably damaging |
Het |
|
| Other mutations in Ptprj |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01528:Ptprj
|
APN |
2 |
90,282,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01594:Ptprj
|
APN |
2 |
90,271,139 (GRCm39) |
splice site |
probably benign |
|
|
IGL01767:Ptprj
|
APN |
2 |
90,299,918 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01917:Ptprj
|
APN |
2 |
90,300,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Ptprj
|
APN |
2 |
90,270,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Ptprj
|
APN |
2 |
90,283,488 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02955:Ptprj
|
APN |
2 |
90,298,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03102:Ptprj
|
APN |
2 |
90,309,312 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03150:Ptprj
|
APN |
2 |
90,290,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03210:Ptprj
|
APN |
2 |
90,300,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02799:Ptprj
|
UTSW |
2 |
90,299,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0083:Ptprj
|
UTSW |
2 |
90,300,121 (GRCm39) |
splice site |
probably null |
|
|
R0108:Ptprj
|
UTSW |
2 |
90,300,121 (GRCm39) |
splice site |
probably null |
|
|
R0579:Ptprj
|
UTSW |
2 |
90,266,913 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1130:Ptprj
|
UTSW |
2 |
90,283,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Ptprj
|
UTSW |
2 |
90,274,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1238:Ptprj
|
UTSW |
2 |
90,274,758 (GRCm39) |
splice site |
probably null |
|
|
R1507:Ptprj
|
UTSW |
2 |
90,301,631 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1552:Ptprj
|
UTSW |
2 |
90,301,497 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1607:Ptprj
|
UTSW |
2 |
90,293,664 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1693:Ptprj
|
UTSW |
2 |
90,280,141 (GRCm39) |
nonsense |
probably null |
|
|
R2016:Ptprj
|
UTSW |
2 |
90,294,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Ptprj
|
UTSW |
2 |
90,294,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Ptprj
|
UTSW |
2 |
90,293,439 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2322:Ptprj
|
UTSW |
2 |
90,301,473 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2516:Ptprj
|
UTSW |
2 |
90,305,340 (GRCm39) |
splice site |
probably benign |
|
|
R3106:Ptprj
|
UTSW |
2 |
90,270,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Ptprj
|
UTSW |
2 |
90,298,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4201:Ptprj
|
UTSW |
2 |
90,293,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4533:Ptprj
|
UTSW |
2 |
90,270,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4680:Ptprj
|
UTSW |
2 |
90,290,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Ptprj
|
UTSW |
2 |
90,270,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Ptprj
|
UTSW |
2 |
90,290,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5137:Ptprj
|
UTSW |
2 |
90,299,992 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5349:Ptprj
|
UTSW |
2 |
90,301,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5369:Ptprj
|
UTSW |
2 |
90,299,985 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5718:Ptprj
|
UTSW |
2 |
90,288,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5914:Ptprj
|
UTSW |
2 |
90,283,684 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6022:Ptprj
|
UTSW |
2 |
90,301,667 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6341:Ptprj
|
UTSW |
2 |
90,288,693 (GRCm39) |
missense |
probably benign |
|
|
R6421:Ptprj
|
UTSW |
2 |
90,301,484 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6724:Ptprj
|
UTSW |
2 |
90,281,195 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6831:Ptprj
|
UTSW |
2 |
90,290,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Ptprj
|
UTSW |
2 |
90,410,747 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7134:Ptprj
|
UTSW |
2 |
90,294,822 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7149:Ptprj
|
UTSW |
2 |
90,274,790 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7243:Ptprj
|
UTSW |
2 |
90,276,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7335:Ptprj
|
UTSW |
2 |
90,271,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7439:Ptprj
|
UTSW |
2 |
90,280,163 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7441:Ptprj
|
UTSW |
2 |
90,280,163 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7498:Ptprj
|
UTSW |
2 |
90,266,909 (GRCm39) |
nonsense |
probably null |
|
|
R7571:Ptprj
|
UTSW |
2 |
90,285,530 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7657:Ptprj
|
UTSW |
2 |
90,282,501 (GRCm39) |
splice site |
probably null |
|
|
R7672:Ptprj
|
UTSW |
2 |
90,290,940 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7849:Ptprj
|
UTSW |
2 |
90,274,804 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7939:Ptprj
|
UTSW |
2 |
90,295,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7958:Ptprj
|
UTSW |
2 |
90,299,971 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8338:Ptprj
|
UTSW |
2 |
90,301,481 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8354:Ptprj
|
UTSW |
2 |
90,300,061 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8556:Ptprj
|
UTSW |
2 |
90,271,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8695:Ptprj
|
UTSW |
2 |
90,301,481 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8784:Ptprj
|
UTSW |
2 |
90,290,856 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8984:Ptprj
|
UTSW |
2 |
90,270,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Ptprj
|
UTSW |
2 |
90,290,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Ptprj
|
UTSW |
2 |
90,288,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9147:Ptprj
|
UTSW |
2 |
90,288,562 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9148:Ptprj
|
UTSW |
2 |
90,288,562 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9168:Ptprj
|
UTSW |
2 |
90,294,916 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9314:Ptprj
|
UTSW |
2 |
90,301,631 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9337:Ptprj
|
UTSW |
2 |
90,270,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9546:Ptprj
|
UTSW |
2 |
90,274,805 (GRCm39) |
missense |
probably benign |
0.08 |
|
RF013:Ptprj
|
UTSW |
2 |
90,301,514 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ptprj
|
UTSW |
2 |
90,290,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCAAGGGCAACAGCGTC -3'
(R):5'- GTGTGTCCCACATTGAAGTAAAC -3'
Sequencing Primer
(F):5'- GCGTCAACATTAATGAGCCG -3'
(R):5'- GTGTCCCACATTGAAGTAAACACCAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation