Incidental Mutation 'R6972:Ptprj'
| ID |
542283 |
| 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 |
045082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R6972 (G1)
|
| Quality Score |
111.035 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90410747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 62
(S62F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168621]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168621
AA Change: S62F
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: S62F
| 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: 99.0%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 79,003,775 (GRCm39) |
S285G |
probably benign |
Het |
| Afg1l |
T |
C |
10: 42,354,370 (GRCm39) |
T10A |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,174,269 (GRCm39) |
E2089G |
probably null |
Het |
| Calcrl |
T |
G |
2: 84,198,922 (GRCm39) |
I156L |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,246,543 (GRCm39) |
S122G |
probably benign |
Het |
| Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,436,658 (GRCm39) |
I1586K |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,124,483 (GRCm39) |
A523T |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,971 (GRCm39) |
C466* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,842,439 (GRCm39) |
I220V |
probably benign |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,755 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
G |
11: 77,390,347 (GRCm39) |
V64G |
probably damaging |
Het |
| Gpr162 |
C |
T |
6: 124,838,272 (GRCm39) |
R126H |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,131 (GRCm39) |
V127A |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,653,750 (GRCm39) |
D665G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,959,144 (GRCm39) |
I233V |
probably damaging |
Het |
| Lmcd1 |
C |
T |
6: 112,287,659 (GRCm39) |
T115I |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,906 (GRCm39) |
S230P |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,817,196 (GRCm39) |
Q164R |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,745 (GRCm39) |
V617E |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plscr3 |
G |
A |
11: 69,738,784 (GRCm39) |
E149K |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,688,512 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,472 (GRCm39) |
L234P |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,812,617 (GRCm39) |
R109H |
probably benign |
Het |
| Resf1 |
T |
A |
6: 149,227,607 (GRCm39) |
Y218N |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,116,089 (GRCm39) |
S240T |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,404 (GRCm39) |
V409A |
possibly damaging |
Het |
| Tafa2 |
A |
G |
10: 123,540,278 (GRCm39) |
T45A |
probably benign |
Het |
| Trim29 |
T |
A |
9: 43,238,409 (GRCm39) |
N504K |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,202 (GRCm39) |
Y461H |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,330 (GRCm39) |
K531E |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
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 |
|
|
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 |
|
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'- CACTCGAGAGCTTACCTGGC -3'
(R):5'- CCATCCATACTAGCTCGTGG -3'
Sequencing Primer
(F):5'- AGAGCTTACCTGGCCCTGG -3'
(R):5'- TCCCGAGTCCCAGGAATGTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation