Incidental Mutation 'IGL03102:Ptprj'
ID |
418761 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptprj
|
Ensembl Gene |
ENSMUSG00000025314 |
Gene Name |
protein tyrosine phosphatase receptor type J |
Synonyms |
Byp, RPTPJ, Scc1, CD148, DEP-1, Scc-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
IGL03102
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90309312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 51
(R51K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111495]
[ENSMUST00000168621]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111495
AA Change: R51K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000107121 Gene: ENSMUSG00000025314 AA Change: R51K
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 |
noncoding transcript
Transcript: ENSMUST00000126219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126953
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168621
|
SMART Domains |
Protein: ENSMUSP00000129592 Gene: ENSMUSG00000025314
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 |
|
Validation Efficiency |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
T |
C |
7: 80,744,804 (GRCm39) |
|
probably null |
Het |
Alyref |
G |
A |
11: 120,488,591 (GRCm39) |
P79L |
possibly damaging |
Het |
Arhgap28 |
T |
C |
17: 68,203,231 (GRCm39) |
D74G |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,718,857 (GRCm39) |
D586E |
probably damaging |
Het |
Chd3 |
G |
T |
11: 69,252,022 (GRCm39) |
Y79* |
probably null |
Het |
Cnot3 |
C |
A |
7: 3,659,155 (GRCm39) |
S467* |
probably null |
Het |
Col18a1 |
A |
T |
10: 76,903,457 (GRCm39) |
|
probably benign |
Het |
Col19a1 |
C |
A |
1: 24,367,134 (GRCm39) |
G483C |
probably damaging |
Het |
Col5a3 |
A |
C |
9: 20,715,931 (GRCm39) |
|
probably null |
Het |
Dctn5 |
A |
T |
7: 121,732,382 (GRCm39) |
N9I |
probably benign |
Het |
Emc10 |
T |
A |
7: 44,141,413 (GRCm39) |
N225I |
probably damaging |
Het |
Fam219b |
A |
G |
9: 57,447,981 (GRCm39) |
Y158C |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,874,394 (GRCm39) |
V2273A |
probably benign |
Het |
Frem3 |
T |
A |
8: 81,339,661 (GRCm39) |
H651Q |
possibly damaging |
Het |
Gm4076 |
T |
A |
13: 85,275,438 (GRCm39) |
|
noncoding transcript |
Het |
Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
Ifnab |
T |
G |
4: 88,609,062 (GRCm39) |
T135P |
possibly damaging |
Het |
Jag1 |
T |
C |
2: 136,926,608 (GRCm39) |
I979V |
probably benign |
Het |
Kank1 |
G |
T |
19: 25,403,282 (GRCm39) |
M1097I |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,900,637 (GRCm39) |
V206A |
probably damaging |
Het |
Kel |
T |
C |
6: 41,679,917 (GRCm39) |
K91R |
probably benign |
Het |
Kirrel1 |
G |
T |
3: 86,990,807 (GRCm39) |
R672S |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,753,424 (GRCm39) |
M143T |
probably benign |
Het |
Kpna1 |
A |
G |
16: 35,833,289 (GRCm39) |
I122V |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,250,694 (GRCm39) |
S353P |
probably damaging |
Het |
Mtfr1l |
T |
A |
4: 134,259,543 (GRCm39) |
Q11L |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,416,806 (GRCm39) |
V3251M |
probably benign |
Het |
Mup8 |
C |
T |
4: 60,219,746 (GRCm39) |
D174N |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,176,768 (GRCm39) |
E1015D |
probably benign |
Het |
Or10ak14 |
C |
A |
4: 118,611,131 (GRCm39) |
L201F |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,801,668 (GRCm39) |
F188L |
possibly damaging |
Het |
Pacrg |
A |
G |
17: 11,058,719 (GRCm39) |
F13L |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,723,722 (GRCm39) |
S676T |
possibly damaging |
Het |
Pdia6 |
T |
A |
12: 17,331,040 (GRCm39) |
|
probably null |
Het |
Pfkm |
A |
T |
15: 98,024,266 (GRCm39) |
I425F |
possibly damaging |
Het |
Pikfyve |
C |
T |
1: 65,291,626 (GRCm39) |
R1282* |
probably null |
Het |
Pole |
C |
T |
5: 110,444,939 (GRCm39) |
L432F |
probably damaging |
Het |
Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
Prr5 |
G |
T |
15: 84,650,508 (GRCm39) |
|
probably benign |
Het |
Prxl2b |
T |
C |
4: 154,981,058 (GRCm39) |
|
probably benign |
Het |
Psat1 |
A |
G |
19: 15,883,487 (GRCm39) |
Y343H |
probably damaging |
Het |
Qars1 |
A |
G |
9: 108,386,118 (GRCm39) |
D103G |
probably benign |
Het |
Rims2 |
A |
T |
15: 39,322,989 (GRCm39) |
I768F |
possibly damaging |
Het |
Robo4 |
T |
A |
9: 37,315,481 (GRCm39) |
V275E |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,650,468 (GRCm39) |
|
probably benign |
Het |
Sez6l |
T |
C |
5: 112,623,269 (GRCm39) |
H94R |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,490,553 (GRCm39) |
N211K |
possibly damaging |
Het |
Strbp |
T |
C |
2: 37,476,515 (GRCm39) |
|
probably benign |
Het |
Tceanc2 |
T |
A |
4: 107,004,878 (GRCm39) |
H90L |
probably damaging |
Het |
Tdrkh |
A |
T |
3: 94,331,844 (GRCm39) |
T90S |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,559,823 (GRCm39) |
D1288G |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,532,861 (GRCm39) |
D2447G |
possibly damaging |
Het |
Tmem63c |
G |
A |
12: 87,112,323 (GRCm39) |
V141M |
probably benign |
Het |
Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
Tprkb |
T |
A |
6: 85,901,400 (GRCm39) |
C13S |
probably benign |
Het |
Traf3ip3 |
T |
C |
1: 192,877,385 (GRCm39) |
T184A |
probably damaging |
Het |
Trpc6 |
T |
A |
9: 8,649,302 (GRCm39) |
M504K |
probably benign |
Het |
Ttn |
G |
T |
2: 76,597,567 (GRCm39) |
S18036* |
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,688,392 (GRCm39) |
C2914S |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,096,032 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,785,134 (GRCm39) |
H471R |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,983,951 (GRCm39) |
T384A |
probably benign |
Het |
Zfyve16 |
C |
T |
13: 92,648,325 (GRCm39) |
E910K |
possibly 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 |
|
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 |
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 |
|
Posted On |
2016-08-02 |