Incidental Mutation 'IGL01767:Ptprj'
ID |
153365 |
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? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
IGL01767
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90299918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 108
(N108K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111493]
[ENSMUST00000111495]
[ENSMUST00000168621]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111493
AA Change: N108K
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000107119 Gene: ENSMUSG00000025314 AA Change: N108K
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 |
probably benign
Transcript: ENSMUST00000111495
AA Change: N201K
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000107121 Gene: ENSMUSG00000025314 AA Change: N201K
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 |
probably benign
Transcript: ENSMUST00000168621
AA Change: N294K
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000129592 Gene: ENSMUSG00000025314 AA Change: N294K
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
A |
T |
8: 60,960,126 (GRCm39) |
D31V |
probably damaging |
Het |
Acaca |
A |
T |
11: 84,211,368 (GRCm39) |
Y1560F |
probably benign |
Het |
Actl7a |
A |
G |
4: 56,743,980 (GRCm39) |
E169G |
probably damaging |
Het |
Adgrb3 |
A |
G |
1: 25,598,895 (GRCm39) |
V270A |
probably benign |
Het |
Adgre4 |
G |
A |
17: 56,104,740 (GRCm39) |
V269I |
probably benign |
Het |
Ankhd1 |
A |
G |
18: 36,781,427 (GRCm39) |
T2160A |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,095,512 (GRCm39) |
V4505A |
probably benign |
Het |
Bnip2 |
T |
A |
9: 69,909,398 (GRCm39) |
|
probably benign |
Het |
Casp16 |
A |
G |
17: 23,771,027 (GRCm39) |
V126A |
probably damaging |
Het |
Ccser1 |
C |
A |
6: 61,695,136 (GRCm39) |
T157K |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,151,503 (GRCm39) |
S2459P |
probably damaging |
Het |
Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
Chmp6 |
G |
A |
11: 119,807,812 (GRCm39) |
E72K |
probably benign |
Het |
Cldn23 |
T |
C |
8: 36,292,816 (GRCm39) |
Y224C |
probably damaging |
Het |
Cry1 |
C |
T |
10: 84,982,338 (GRCm39) |
G336D |
probably damaging |
Het |
Cyp4f17 |
T |
A |
17: 32,725,956 (GRCm39) |
F30I |
probably benign |
Het |
Dgcr8 |
T |
A |
16: 18,096,200 (GRCm39) |
D496V |
probably damaging |
Het |
Dhx9 |
A |
G |
1: 153,344,614 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
C |
T |
5: 124,820,801 (GRCm39) |
|
probably benign |
Het |
Dock9 |
T |
C |
14: 121,860,282 (GRCm39) |
E880G |
possibly damaging |
Het |
Dscam |
A |
G |
16: 96,456,136 (GRCm39) |
V1264A |
probably damaging |
Het |
Eno1 |
T |
C |
4: 150,331,167 (GRCm39) |
Y270H |
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,117,112 (GRCm39) |
D385G |
probably damaging |
Het |
Ercc2 |
A |
G |
7: 19,124,346 (GRCm39) |
Y215C |
probably damaging |
Het |
Fscn2 |
A |
G |
11: 120,258,576 (GRCm39) |
N400S |
possibly damaging |
Het |
Fuca1 |
C |
T |
4: 135,666,512 (GRCm39) |
T449I |
probably benign |
Het |
Gm43638 |
T |
C |
5: 87,613,290 (GRCm39) |
K492E |
probably damaging |
Het |
Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
Gm8122 |
T |
C |
14: 43,090,158 (GRCm39) |
T111A |
unknown |
Het |
Gtf3c2 |
T |
A |
5: 31,314,979 (GRCm39) |
N923Y |
probably benign |
Het |
Il17a |
T |
A |
1: 20,803,864 (GRCm39) |
D86E |
probably benign |
Het |
Itgb2l |
G |
T |
16: 96,231,775 (GRCm39) |
N330K |
probably benign |
Het |
Kcnj11 |
T |
C |
7: 45,748,489 (GRCm39) |
H278R |
probably benign |
Het |
Khdrbs2 |
T |
A |
1: 32,658,257 (GRCm39) |
Y272* |
probably null |
Het |
Kndc1 |
A |
T |
7: 139,509,959 (GRCm39) |
Q1267L |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,374,120 (GRCm39) |
F64I |
possibly damaging |
Het |
Lrig2 |
T |
A |
3: 104,398,861 (GRCm39) |
K222N |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,612,332 (GRCm39) |
Y378N |
probably damaging |
Het |
Mblac2 |
T |
C |
13: 81,898,434 (GRCm39) |
L270P |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,210,609 (GRCm39) |
I511N |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,428,033 (GRCm39) |
E763D |
probably damaging |
Het |
Or1e25 |
T |
A |
11: 73,493,858 (GRCm39) |
F151I |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
Or5b97 |
T |
A |
19: 12,879,112 (GRCm39) |
T11S |
probably benign |
Het |
Or7g27 |
G |
A |
9: 19,250,598 (GRCm39) |
V281I |
possibly damaging |
Het |
Plxna4 |
T |
A |
6: 32,214,613 (GRCm39) |
I623F |
possibly damaging |
Het |
Ppp2ca |
T |
A |
11: 52,008,882 (GRCm39) |
Y127* |
probably null |
Het |
Psg18 |
A |
G |
7: 18,087,322 (GRCm39) |
V112A |
possibly damaging |
Het |
Rictor |
A |
G |
15: 6,806,865 (GRCm39) |
Y707C |
probably damaging |
Het |
Rptn |
T |
C |
3: 93,302,946 (GRCm39) |
F93S |
probably benign |
Het |
Rxrg |
T |
A |
1: 167,454,884 (GRCm39) |
C156S |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,189,946 (GRCm39) |
|
probably benign |
Het |
Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
Slx4 |
T |
C |
16: 3,808,112 (GRCm39) |
K481E |
probably benign |
Het |
Snx19 |
T |
C |
9: 30,374,560 (GRCm39) |
W940R |
possibly damaging |
Het |
Spopfm1 |
T |
A |
3: 94,173,791 (GRCm39) |
D262E |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,626,633 (GRCm39) |
P1106S |
probably benign |
Het |
Tcf20 |
G |
A |
15: 82,740,209 (GRCm39) |
P414L |
probably damaging |
Het |
Treml2 |
T |
C |
17: 48,609,838 (GRCm39) |
V90A |
probably benign |
Het |
Uckl1 |
C |
T |
2: 181,211,327 (GRCm39) |
V501M |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,108,256 (GRCm39) |
T1937I |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,567,903 (GRCm39) |
I9F |
probably benign |
Het |
Vmn2r44 |
T |
C |
7: 8,383,237 (GRCm39) |
H119R |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,603,643 (GRCm39) |
D607G |
probably benign |
Het |
Vps13a |
C |
T |
19: 16,641,258 (GRCm39) |
G2288D |
probably damaging |
Het |
Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
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 |
|
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 |
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 |
2014-02-04 |