Incidental Mutation 'R1507:Ptprj'
ID |
167975 |
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 |
039555-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
R1507 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90301631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111493]
[ENSMUST00000111495]
[ENSMUST00000168621]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111493
|
SMART Domains |
Protein: ENSMUSP00000107119 Gene: ENSMUSG00000025314
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: V74A
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107121 Gene: ENSMUSG00000025314 AA Change: V74A
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: V167A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129592 Gene: ENSMUSG00000025314 AA Change: V167A
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 |
|
Meta Mutation Damage Score |
0.4757 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
Validation Efficiency |
100% (66/66) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003F12Rik |
T |
G |
2: 154,391,539 (GRCm39) |
V102G |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,620,699 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
A |
19: 8,987,441 (GRCm39) |
D2908E |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,143,610 (GRCm39) |
M1243V |
probably benign |
Het |
Apobec2 |
T |
C |
17: 48,730,003 (GRCm39) |
D221G |
possibly damaging |
Het |
Bcas1 |
T |
C |
2: 170,208,348 (GRCm39) |
D472G |
probably damaging |
Het |
Btnl7-ps |
T |
A |
17: 34,760,437 (GRCm39) |
|
noncoding transcript |
Het |
Cd209d |
G |
T |
8: 3,928,453 (GRCm39) |
Q11K |
possibly damaging |
Het |
Cdc14a |
G |
A |
3: 116,087,646 (GRCm39) |
T455I |
possibly damaging |
Het |
Cep120 |
A |
G |
18: 53,830,729 (GRCm39) |
S843P |
probably damaging |
Het |
Cped1 |
A |
T |
6: 22,122,260 (GRCm39) |
H380L |
probably damaging |
Het |
Derl2 |
A |
T |
11: 70,898,171 (GRCm39) |
W233R |
probably benign |
Het |
Drd5 |
A |
T |
5: 38,478,065 (GRCm39) |
I353F |
probably damaging |
Het |
E330034G19Rik |
A |
T |
14: 24,357,055 (GRCm39) |
Q197L |
possibly damaging |
Het |
Edil3 |
T |
A |
13: 89,279,831 (GRCm39) |
S170T |
probably damaging |
Het |
Gldc |
T |
A |
19: 30,096,038 (GRCm39) |
T658S |
probably damaging |
Het |
Gpr146 |
A |
G |
5: 139,379,124 (GRCm39) |
M309V |
probably benign |
Het |
H2bc18 |
A |
G |
3: 96,177,189 (GRCm39) |
Y41C |
probably damaging |
Het |
Hexim2 |
T |
A |
11: 103,029,147 (GRCm39) |
C66* |
probably null |
Het |
Htr2a |
T |
C |
14: 74,943,419 (GRCm39) |
V333A |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,041,026 (GRCm39) |
E1065G |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,465,524 (GRCm39) |
D1325E |
probably damaging |
Het |
Kcnk9 |
T |
A |
15: 72,384,083 (GRCm39) |
E365V |
possibly damaging |
Het |
Kif28 |
T |
A |
1: 179,563,571 (GRCm39) |
N135I |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,729,700 (GRCm39) |
|
probably benign |
Het |
Lamb2 |
A |
T |
9: 108,367,581 (GRCm39) |
I1788F |
probably damaging |
Het |
Lsm6 |
G |
A |
8: 79,539,608 (GRCm39) |
R31* |
probably null |
Het |
Mical3 |
T |
A |
6: 121,019,199 (GRCm39) |
T8S |
probably benign |
Het |
Ncapg2 |
T |
C |
12: 116,424,186 (GRCm39) |
F1123S |
probably benign |
Het |
Nprl2 |
A |
G |
9: 107,420,191 (GRCm39) |
D30G |
probably benign |
Het |
Or51l4 |
C |
T |
7: 103,404,228 (GRCm39) |
R188H |
probably benign |
Het |
Or5ac24 |
A |
T |
16: 59,165,856 (GRCm39) |
D69E |
probably damaging |
Het |
Or8b51 |
A |
T |
9: 38,569,310 (GRCm39) |
I126N |
probably damaging |
Het |
Parvg |
T |
A |
15: 84,214,359 (GRCm39) |
V181E |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,880,860 (GRCm39) |
T1106A |
probably benign |
Het |
Plekhh1 |
A |
T |
12: 79,126,224 (GRCm39) |
T1310S |
probably damaging |
Het |
Potegl |
A |
G |
2: 23,098,086 (GRCm39) |
Y88C |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 78,988,600 (GRCm39) |
|
probably benign |
Het |
Rfx3 |
G |
T |
19: 27,745,913 (GRCm39) |
T731K |
probably benign |
Het |
Rnf31 |
A |
T |
14: 55,836,439 (GRCm39) |
K634* |
probably null |
Het |
Scp2 |
CACTTTAATAATACTTT |
CACTTT |
4: 107,944,209 (GRCm39) |
|
probably null |
Het |
Set |
A |
G |
2: 29,959,106 (GRCm39) |
H101R |
probably damaging |
Het |
Slc30a6 |
G |
T |
17: 74,715,857 (GRCm39) |
V106F |
probably damaging |
Het |
Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
Spaca3 |
G |
A |
11: 80,753,983 (GRCm39) |
R40H |
probably damaging |
Het |
Srpra |
G |
A |
9: 35,126,766 (GRCm39) |
R508H |
probably benign |
Het |
Ston2 |
A |
T |
12: 91,608,454 (GRCm39) |
I882N |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,740,857 (GRCm39) |
S1209P |
probably benign |
Het |
Tmprss11g |
T |
C |
5: 86,647,470 (GRCm39) |
T23A |
probably benign |
Het |
Topors |
A |
G |
4: 40,261,829 (GRCm39) |
V485A |
probably damaging |
Het |
Tpgs1 |
T |
A |
10: 79,511,620 (GRCm39) |
L254Q |
probably damaging |
Het |
Traf3 |
A |
C |
12: 111,227,194 (GRCm39) |
T336P |
probably benign |
Het |
Ttn |
T |
A |
2: 76,710,934 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
G |
A |
15: 37,981,114 (GRCm39) |
R2388W |
probably damaging |
Het |
Unc13a |
A |
G |
8: 72,110,910 (GRCm39) |
S434P |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,080,400 (GRCm39) |
I510M |
possibly damaging |
Het |
Vmn1r65 |
C |
A |
7: 6,012,108 (GRCm39) |
G42V |
probably benign |
Het |
Xab2 |
A |
G |
8: 3,666,031 (GRCm39) |
L262S |
possibly damaging |
Het |
Yap1 |
A |
T |
9: 7,953,141 (GRCm39) |
|
probably benign |
Het |
Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
Zfp609 |
A |
G |
9: 65,702,059 (GRCm39) |
Y198H |
possibly damaging |
Het |
Zfp629 |
T |
A |
7: 127,211,033 (GRCm39) |
K259* |
probably null |
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 |
|
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 |
R6939:Ptprj
|
UTSW |
2 |
90,289,858 (GRCm39) |
missense |
possibly damaging |
0.68 |
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'- ACACAATGTGATGGATCTTGGTGGC -3'
(R):5'- TTCAAGAACGCACATTCATGCACAG -3'
Sequencing Primer
(F):5'- TGGGTATCACAATCTCTAGCGAC -3'
(R):5'- TTTGTTTCAGGGAAGTCAAAGAG -3'
|
Posted On |
2014-04-13 |