Incidental Mutation 'R5718:Ptprj'
ID |
451260 |
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 |
043338-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
R5718 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90288613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 691
(D691G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107121
(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: D598G
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107119 Gene: ENSMUSG00000025314 AA Change: D598G
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: D691G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107121 Gene: ENSMUSG00000025314 AA Change: D691G
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 |
|
SMART Domains |
Protein: ENSMUSP00000129592 Gene: ENSMUSG00000025314 AA Change: D784G
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
T |
C |
8: 27,603,514 (GRCm39) |
|
probably null |
Het |
Ahctf1 |
G |
T |
1: 179,596,904 (GRCm39) |
H81N |
possibly damaging |
Het |
Alyref2 |
T |
C |
1: 171,331,678 (GRCm39) |
S152P |
possibly damaging |
Het |
Arhgef7 |
C |
T |
8: 11,835,774 (GRCm39) |
T20I |
probably damaging |
Het |
Armc3 |
T |
G |
2: 19,308,610 (GRCm39) |
Y759* |
probably null |
Het |
Atg5 |
A |
G |
10: 44,238,983 (GRCm39) |
S255G |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,891,665 (GRCm39) |
I1026V |
probably benign |
Het |
Atp1a2 |
C |
A |
1: 172,107,009 (GRCm39) |
K770N |
probably damaging |
Het |
Bptf |
G |
T |
11: 107,002,260 (GRCm39) |
A284E |
probably damaging |
Het |
Celsr2 |
A |
G |
3: 108,300,674 (GRCm39) |
S815P |
probably benign |
Het |
Chrna5 |
A |
G |
9: 54,905,389 (GRCm39) |
H67R |
probably benign |
Het |
Cic |
A |
G |
7: 24,972,203 (GRCm39) |
I645V |
probably benign |
Het |
Clpx |
A |
T |
9: 65,207,246 (GRCm39) |
Q48L |
probably benign |
Het |
Crhr2 |
G |
A |
6: 55,069,085 (GRCm39) |
Q397* |
probably null |
Het |
Cyp11a1 |
G |
A |
9: 57,925,508 (GRCm39) |
V48I |
probably benign |
Het |
Dchs1 |
C |
T |
7: 105,404,955 (GRCm39) |
R2529H |
probably benign |
Het |
Dnah7c |
A |
T |
1: 46,787,826 (GRCm39) |
H3293L |
possibly damaging |
Het |
Dock6 |
G |
T |
9: 21,735,789 (GRCm39) |
D986E |
probably benign |
Het |
Efcab6 |
T |
A |
15: 83,788,439 (GRCm39) |
N952Y |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,029,618 (GRCm39) |
C1327Y |
probably damaging |
Het |
Fbxw18 |
T |
C |
9: 109,520,636 (GRCm39) |
E241G |
probably benign |
Het |
Fsd1 |
T |
G |
17: 56,297,542 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
A |
G |
9: 69,941,552 (GRCm39) |
S339P |
probably benign |
Het |
Gldc |
T |
A |
19: 30,088,172 (GRCm39) |
K829* |
probably null |
Het |
Gli3 |
G |
A |
13: 15,652,750 (GRCm39) |
|
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,566,351 (GRCm39) |
C2217* |
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,485,417 (GRCm39) |
I4395N |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,273,909 (GRCm39) |
M861T |
probably benign |
Het |
Ift172 |
A |
G |
5: 31,412,621 (GRCm39) |
S1545P |
possibly damaging |
Het |
Jak3 |
C |
A |
8: 72,136,998 (GRCm39) |
L725M |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,375,931 (GRCm39) |
C90* |
probably null |
Het |
Mcm7 |
C |
T |
5: 138,163,081 (GRCm39) |
R357H |
possibly damaging |
Het |
Mcoln2 |
T |
C |
3: 145,887,581 (GRCm39) |
S333P |
probably damaging |
Het |
Mrpl22 |
A |
T |
11: 58,068,109 (GRCm39) |
I136L |
probably benign |
Het |
Ncam2 |
A |
T |
16: 81,386,702 (GRCm39) |
|
probably null |
Het |
Ncdn |
G |
A |
4: 126,643,743 (GRCm39) |
Q360* |
probably null |
Het |
Nsun2 |
A |
G |
13: 69,771,403 (GRCm39) |
K338E |
probably benign |
Het |
Obscn |
T |
C |
11: 58,927,634 (GRCm39) |
T6105A |
probably damaging |
Het |
Or2aj6 |
G |
A |
16: 19,443,139 (GRCm39) |
S237F |
probably benign |
Het |
Or8g36 |
A |
T |
9: 39,422,338 (GRCm39) |
L226H |
probably damaging |
Het |
Pcnx4 |
T |
A |
12: 72,613,968 (GRCm39) |
F638I |
possibly damaging |
Het |
Pfn3 |
T |
C |
13: 55,562,853 (GRCm39) |
I43V |
probably benign |
Het |
Pigm |
C |
A |
1: 172,205,012 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
T |
A |
15: 44,408,813 (GRCm39) |
S2433R |
probably damaging |
Het |
Pomt1 |
C |
A |
2: 32,138,704 (GRCm39) |
A440D |
possibly damaging |
Het |
Qrich1 |
T |
A |
9: 108,406,022 (GRCm39) |
S72T |
probably damaging |
Het |
Ralgapa2 |
T |
A |
2: 146,295,326 (GRCm39) |
|
probably null |
Het |
Rarg |
A |
C |
15: 102,149,502 (GRCm39) |
S156A |
probably damaging |
Het |
Rasl11a |
A |
G |
5: 146,783,954 (GRCm39) |
K133R |
probably benign |
Het |
Rcor1 |
A |
G |
12: 111,068,069 (GRCm39) |
D158G |
probably benign |
Het |
Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
Sipa1l2 |
T |
A |
8: 126,217,987 (GRCm39) |
H450L |
probably damaging |
Het |
Slc25a21 |
T |
C |
12: 56,764,941 (GRCm39) |
I263V |
probably benign |
Het |
Slc25a32 |
A |
T |
15: 38,960,957 (GRCm39) |
V242E |
probably benign |
Het |
Slc5a5 |
T |
A |
8: 71,340,399 (GRCm39) |
T484S |
probably benign |
Het |
Tdrd3 |
T |
C |
14: 87,743,876 (GRCm39) |
V608A |
probably benign |
Het |
Thnsl1 |
C |
A |
2: 21,216,811 (GRCm39) |
H188Q |
possibly damaging |
Het |
Tshz1 |
A |
T |
18: 84,032,649 (GRCm39) |
H586Q |
probably damaging |
Het |
Vmn2r27 |
C |
T |
6: 124,169,103 (GRCm39) |
A676T |
possibly damaging |
Het |
Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
Xbp1 |
T |
A |
11: 5,471,903 (GRCm39) |
F10I |
probably benign |
Het |
Zbtb1 |
G |
A |
12: 76,433,698 (GRCm39) |
M561I |
probably benign |
Het |
Zfp708 |
T |
C |
13: 67,218,522 (GRCm39) |
K446E |
probably benign |
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 |
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'- AAAAGCTTGCACACTGCTGAG -3'
(R):5'- TGAGCCAGGTTGTCTGCTTC -3'
Sequencing Primer
(F):5'- GCCAGCTGCTCGAGGGG -3'
(R):5'- CAGGTTGTCTGCTTCCCTTGAG -3'
|
Posted On |
2017-01-03 |