Incidental Mutation 'R8984:Ptprj'
ID |
683868 |
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 |
068817-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
R8984 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 90270987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1247
(P1247L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129592
(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: P1061L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107119 Gene: ENSMUSG00000025314 AA Change: P1061L
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 damaging
Transcript: ENSMUST00000111495
AA Change: P1154L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107121 Gene: ENSMUSG00000025314 AA Change: P1154L
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: P1247L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129592 Gene: ENSMUSG00000025314 AA Change: P1247L
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 |
0.8715 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (68/68) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
A |
9: 122,180,880 (GRCm39) |
V10E |
probably benign |
Het |
Adss2 |
A |
T |
1: 177,601,280 (GRCm39) |
|
probably benign |
Het |
AI467606 |
A |
T |
7: 126,691,673 (GRCm39) |
I83F |
probably damaging |
Het |
Atn1 |
A |
T |
6: 124,723,923 (GRCm39) |
W437R |
unknown |
Het |
Atxn7l2 |
T |
C |
3: 108,116,290 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,734,936 (GRCm39) |
F750S |
possibly damaging |
Het |
B3gnt6 |
A |
G |
7: 97,842,821 (GRCm39) |
S380P |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,946,215 (GRCm39) |
Q3020R |
probably damaging |
Het |
Borcs6 |
A |
T |
11: 68,950,828 (GRCm39) |
I69F |
probably benign |
Het |
Brd7 |
T |
A |
8: 89,081,340 (GRCm39) |
M170L |
probably benign |
Het |
Ccdc191 |
T |
A |
16: 43,710,581 (GRCm39) |
|
probably benign |
Het |
Cit |
C |
T |
5: 116,064,534 (GRCm39) |
T472I |
possibly damaging |
Het |
Ddx25 |
G |
T |
9: 35,468,685 (GRCm39) |
D57E |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,674,436 (GRCm39) |
L447* |
probably null |
Het |
Epb41l3 |
A |
G |
17: 69,554,641 (GRCm39) |
D247G |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,890,254 (GRCm39) |
V869E |
probably damaging |
Het |
Exoc8 |
T |
A |
8: 125,622,769 (GRCm39) |
I533F |
probably benign |
Het |
Fam117a |
A |
G |
11: 95,254,823 (GRCm39) |
|
probably null |
Het |
Fam222a |
C |
T |
5: 114,749,092 (GRCm39) |
T96I |
possibly damaging |
Het |
Farsa |
C |
T |
8: 85,594,228 (GRCm39) |
T326I |
probably damaging |
Het |
Fkbp1b |
T |
A |
12: 4,891,401 (GRCm39) |
D12V |
probably damaging |
Het |
Garin3 |
C |
A |
11: 46,295,695 (GRCm39) |
Y22* |
probably null |
Het |
Gc |
C |
T |
5: 89,589,421 (GRCm39) |
|
probably null |
Het |
Git2 |
T |
C |
5: 114,868,256 (GRCm39) |
E705G |
probably damaging |
Het |
Gm10318 |
G |
A |
10: 77,689,078 (GRCm39) |
C128Y |
unknown |
Het |
H3c3 |
C |
A |
13: 23,929,393 (GRCm39) |
A30S |
probably benign |
Het |
Hcar2 |
G |
A |
5: 124,002,571 (GRCm39) |
R311* |
probably null |
Het |
Hira |
A |
G |
16: 18,746,261 (GRCm39) |
Q468R |
possibly damaging |
Het |
Hspa1l |
T |
C |
17: 35,197,092 (GRCm39) |
V377A |
probably damaging |
Het |
Igkv2-137 |
T |
A |
6: 67,532,659 (GRCm39) |
W14R |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,953,391 (GRCm39) |
L317Q |
probably damaging |
Het |
Jade2 |
A |
C |
11: 51,715,906 (GRCm39) |
L433W |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,840,559 (GRCm39) |
T1186A |
probably benign |
Het |
Krtap28-10 |
C |
A |
1: 83,019,894 (GRCm39) |
C82F |
unknown |
Het |
Ksr1 |
G |
A |
11: 78,931,709 (GRCm39) |
T333M |
probably damaging |
Het |
Msi1 |
T |
C |
5: 115,573,598 (GRCm39) |
F132S |
probably damaging |
Het |
Myo7b |
C |
A |
18: 32,099,402 (GRCm39) |
K1673N |
probably null |
Het |
Myom3 |
T |
A |
4: 135,515,255 (GRCm39) |
N716K |
|
Het |
Ndst4 |
G |
A |
3: 125,515,810 (GRCm39) |
G312R |
probably damaging |
Het |
Ndufaf2 |
A |
G |
13: 108,189,316 (GRCm39) |
V144A |
probably benign |
Het |
Omd |
T |
C |
13: 49,743,576 (GRCm39) |
S209P |
possibly damaging |
Het |
Or2n1c |
A |
G |
17: 38,519,304 (GRCm39) |
H56R |
probably damaging |
Het |
Or2t47 |
G |
C |
11: 58,442,209 (GRCm39) |
N285K |
probably damaging |
Het |
Or51b17 |
G |
A |
7: 103,542,816 (GRCm39) |
T42I |
probably benign |
Het |
Or51e1 |
T |
A |
7: 102,359,219 (GRCm39) |
I251N |
possibly damaging |
Het |
Or52a24 |
T |
C |
7: 103,381,220 (GRCm39) |
I29T |
probably damaging |
Het |
Or52e3 |
T |
C |
7: 102,869,393 (GRCm39) |
L156P |
possibly damaging |
Het |
Patl1 |
T |
A |
19: 11,898,760 (GRCm39) |
Y152N |
probably damaging |
Het |
Plaur |
T |
A |
7: 24,164,577 (GRCm39) |
M27K |
probably benign |
Het |
Ppfia2 |
T |
A |
10: 106,694,439 (GRCm39) |
|
probably benign |
Het |
Ppfia3 |
A |
G |
7: 44,990,100 (GRCm39) |
V1142A |
probably damaging |
Het |
Psg28 |
T |
A |
7: 18,156,981 (GRCm39) |
N418I |
probably damaging |
Het |
Ptprd |
A |
T |
4: 75,863,251 (GRCm39) |
F1237I |
probably damaging |
Het |
Rbms3 |
A |
T |
9: 116,524,886 (GRCm39) |
|
probably null |
Het |
Rgs18 |
A |
G |
1: 144,629,566 (GRCm39) |
V231A |
probably benign |
Het |
Rnf112 |
T |
C |
11: 61,343,277 (GRCm39) |
R156G |
possibly damaging |
Het |
Rsad1 |
A |
C |
11: 94,439,010 (GRCm39) |
V150G |
probably damaging |
Het |
Rxrg |
G |
A |
1: 167,462,005 (GRCm39) |
V350I |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,626,808 (GRCm39) |
I192T |
possibly damaging |
Het |
Slc25a36 |
G |
A |
9: 96,961,259 (GRCm39) |
T259I |
probably benign |
Het |
Smarcd3 |
T |
A |
5: 24,798,986 (GRCm39) |
E324V |
probably null |
Het |
St3gal4 |
A |
G |
9: 34,966,944 (GRCm39) |
V2A |
possibly damaging |
Het |
Stk17b |
A |
C |
1: 53,796,784 (GRCm39) |
S328A |
probably benign |
Het |
Tbrg1 |
A |
G |
9: 37,563,949 (GRCm39) |
Y229H |
probably damaging |
Het |
Tdg |
A |
G |
10: 82,484,514 (GRCm39) |
N409S |
probably benign |
Het |
Terb1 |
T |
C |
8: 105,212,036 (GRCm39) |
E315G |
possibly damaging |
Het |
Tmem131 |
A |
G |
1: 36,867,228 (GRCm39) |
F402L |
probably benign |
Het |
Trav4-2 |
T |
C |
14: 53,656,190 (GRCm39) |
I64T |
probably benign |
Het |
Trav4-4-dv10 |
A |
G |
14: 53,921,574 (GRCm39) |
T91A |
probably benign |
Het |
Xdh |
C |
T |
17: 74,228,346 (GRCm39) |
G352R |
probably damaging |
Het |
Zfp551 |
C |
A |
7: 12,156,559 (GRCm39) |
|
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 |
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 |
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'- ACCCCTTTCTATAGTCTCAGGGAC -3'
(R):5'- TCAGGCCTGCTTGATTTCAC -3'
Sequencing Primer
(F):5'- TCTCAGGGACTAAGGCCACAG -3'
(R):5'- CACCGTTGTGATACTGTCAGGTATC -3'
|
Posted On |
2021-10-11 |