Incidental Mutation 'R6831:Ptprj'
ID |
537834 |
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 |
044941-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
R6831 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90290991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 397
(Y397N)
|
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 damaging
Transcript: ENSMUST00000111493
AA Change: Y397N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107119 Gene: ENSMUSG00000025314 AA Change: Y397N
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: Y490N
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107121 Gene: ENSMUSG00000025314 AA Change: Y490N
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 damaging
Transcript: ENSMUST00000168621
AA Change: Y583N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129592 Gene: ENSMUSG00000025314 AA Change: Y583N
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: 99.6%
- 20x: 98.8%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
G |
10: 29,100,675 (GRCm39) |
D349E |
probably benign |
Het |
Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
Akr1cl |
C |
T |
1: 65,053,831 (GRCm39) |
|
probably null |
Het |
Alcam |
A |
G |
16: 52,130,264 (GRCm39) |
Y29H |
probably benign |
Het |
Alg3 |
A |
T |
16: 20,427,497 (GRCm39) |
S25T |
probably damaging |
Het |
Amdhd1 |
T |
G |
10: 93,363,118 (GRCm39) |
L323F |
probably damaging |
Het |
Apcdd1 |
C |
A |
18: 63,083,197 (GRCm39) |
Y342* |
probably null |
Het |
Aqp9 |
T |
A |
9: 71,069,702 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,257,933 (GRCm39) |
T1326A |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,297,860 (GRCm39) |
V1238A |
probably damaging |
Het |
Cep128 |
T |
C |
12: 91,233,748 (GRCm39) |
D440G |
probably damaging |
Het |
Dnah5 |
G |
C |
15: 28,411,661 (GRCm39) |
G3677R |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
E330034G19Rik |
T |
C |
14: 24,346,163 (GRCm39) |
S25P |
probably benign |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Fat3 |
C |
A |
9: 16,287,847 (GRCm39) |
V559L |
probably damaging |
Het |
Fra10ac1 |
A |
T |
19: 38,195,737 (GRCm39) |
I162K |
probably benign |
Het |
Glrx3 |
C |
T |
7: 137,060,951 (GRCm39) |
T195M |
possibly damaging |
Het |
Gm9949 |
T |
A |
18: 62,313,616 (GRCm39) |
|
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,217,767 (GRCm39) |
S228P |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,646,044 (GRCm39) |
T718I |
probably benign |
Het |
Igf1r |
T |
C |
7: 67,857,067 (GRCm39) |
S1010P |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,629,198 (GRCm39) |
Y394* |
probably null |
Het |
Itpr2 |
G |
A |
6: 146,013,927 (GRCm39) |
T2623M |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,072,496 (GRCm39) |
C67* |
probably null |
Het |
Lama1 |
T |
A |
17: 68,063,749 (GRCm39) |
C758S |
possibly damaging |
Het |
Mdga1 |
T |
A |
17: 30,106,490 (GRCm39) |
K274* |
probably null |
Het |
Neu2 |
G |
A |
1: 87,524,455 (GRCm39) |
G147R |
probably damaging |
Het |
Nkx1-1 |
A |
T |
5: 33,591,147 (GRCm39) |
S58R |
unknown |
Het |
Or2ag16 |
A |
T |
7: 106,351,778 (GRCm39) |
N272K |
probably damaging |
Het |
Or52e4 |
A |
G |
7: 104,706,086 (GRCm39) |
D211G |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pacs1 |
T |
A |
19: 5,210,823 (GRCm39) |
I151F |
probably damaging |
Het |
Pamr1 |
C |
T |
2: 102,445,276 (GRCm39) |
R270C |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,838,443 (GRCm39) |
Q1417* |
probably null |
Het |
Pkm |
G |
C |
9: 59,582,398 (GRCm39) |
M409I |
probably benign |
Het |
Plbd2 |
T |
A |
5: 120,631,131 (GRCm39) |
K215N |
probably benign |
Het |
Polk |
T |
C |
13: 96,631,999 (GRCm39) |
K245E |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,094 (GRCm39) |
Q263L |
probably benign |
Het |
Prl |
T |
G |
13: 27,243,530 (GRCm39) |
I65S |
probably benign |
Het |
Proser3 |
T |
C |
7: 30,239,781 (GRCm39) |
H441R |
probably benign |
Het |
Psmb3 |
A |
G |
11: 97,597,728 (GRCm39) |
K98R |
probably benign |
Het |
Ptpn20 |
T |
C |
14: 33,354,882 (GRCm39) |
V319A |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,420,087 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
T |
A |
5: 113,428,246 (GRCm39) |
Y314F |
probably damaging |
Het |
Sh3pxd2a |
G |
A |
19: 47,271,532 (GRCm39) |
R244C |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,461,767 (GRCm39) |
V3466M |
possibly damaging |
Het |
Syne2 |
T |
A |
12: 76,013,568 (GRCm39) |
F2921I |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
Trmt112 |
T |
A |
19: 6,887,563 (GRCm39) |
L4H |
probably damaging |
Het |
Trmu |
A |
G |
15: 85,779,207 (GRCm39) |
T285A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,601,846 (GRCm39) |
|
probably null |
Het |
Vmn2r-ps158 |
G |
C |
7: 42,673,004 (GRCm39) |
A143P |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
Zcchc8 |
T |
C |
5: 123,838,972 (GRCm39) |
E522G |
probably damaging |
Het |
Zfp354a |
T |
C |
11: 50,961,381 (GRCm39) |
S529P |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
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 |
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'- CAGTTACTGTACTTCCTCCATGGG -3'
(R):5'- TGGCCTCATTGGAAATCTGG -3'
Sequencing Primer
(F):5'- CAAGACTCACGTGTGTACTGG -3'
(R):5'- GGCCTCATTGGAAATCTGGATAATG -3'
|
Posted On |
2018-10-18 |