Incidental Mutation 'R6341:Ptprj'
ID |
514367 |
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 |
044495-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R6341 (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 90288693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 757
(F757L)
|
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 benign
Transcript: ENSMUST00000111493
AA Change: F571L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107119 Gene: ENSMUSG00000025314 AA Change: F571L
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: F664L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107121 Gene: ENSMUSG00000025314 AA Change: F664L
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: F757L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129592 Gene: ENSMUSG00000025314 AA Change: F757L
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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,924,364 (GRCm39) |
D658G |
possibly damaging |
Het |
Amz2 |
A |
G |
11: 109,319,653 (GRCm39) |
H13R |
probably benign |
Het |
Ankrd27 |
G |
T |
7: 35,326,828 (GRCm39) |
|
probably null |
Het |
Atp8a1 |
T |
C |
5: 67,840,270 (GRCm39) |
T704A |
possibly damaging |
Het |
Cabin1 |
A |
T |
10: 75,494,573 (GRCm39) |
M1602K |
probably damaging |
Het |
Ccdc74a |
T |
C |
16: 17,465,978 (GRCm39) |
S105P |
probably damaging |
Het |
Cdh26 |
T |
A |
2: 178,113,366 (GRCm39) |
|
probably null |
Het |
Cxcl10 |
T |
C |
5: 92,496,072 (GRCm39) |
I22V |
probably benign |
Het |
Cyp2c68 |
A |
C |
19: 39,700,933 (GRCm39) |
V295G |
possibly damaging |
Het |
Ddx10 |
A |
T |
9: 53,115,551 (GRCm39) |
D594E |
probably benign |
Het |
Ddx5 |
T |
C |
11: 106,676,368 (GRCm39) |
|
probably null |
Het |
Duox1 |
T |
C |
2: 122,168,202 (GRCm39) |
I1109T |
probably damaging |
Het |
Dusp15 |
T |
C |
2: 152,788,204 (GRCm39) |
|
probably null |
Het |
Ecel1 |
A |
G |
1: 87,078,193 (GRCm39) |
|
probably null |
Het |
Efcab6 |
T |
G |
15: 83,820,139 (GRCm39) |
Q714P |
possibly damaging |
Het |
Erc1 |
A |
G |
6: 119,754,959 (GRCm39) |
L464P |
possibly damaging |
Het |
Fam234a |
T |
A |
17: 26,432,667 (GRCm39) |
H494L |
probably damaging |
Het |
Gfpt1 |
T |
C |
6: 87,065,127 (GRCm39) |
V694A |
probably damaging |
Het |
Gli2 |
T |
C |
1: 118,763,954 (GRCm39) |
D1399G |
probably damaging |
Het |
Gm10110 |
T |
C |
14: 90,134,144 (GRCm39) |
|
noncoding transcript |
Het |
Hdac3 |
A |
G |
18: 38,077,217 (GRCm39) |
L219P |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,032,022 (GRCm39) |
F52S |
probably damaging |
Het |
Ints7 |
C |
A |
1: 191,345,239 (GRCm39) |
T643K |
probably damaging |
Het |
Ireb2 |
A |
G |
9: 54,816,064 (GRCm39) |
I878M |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,946,677 (GRCm39) |
|
probably null |
Het |
Lrfn5 |
T |
A |
12: 61,890,368 (GRCm39) |
Y552* |
probably null |
Het |
Mafb |
T |
C |
2: 160,208,371 (GRCm39) |
T76A |
probably damaging |
Het |
Man2b1 |
A |
T |
8: 85,822,028 (GRCm39) |
S748C |
probably damaging |
Het |
Mmp15 |
G |
T |
8: 96,092,091 (GRCm39) |
|
probably null |
Het |
Mmp17 |
A |
T |
5: 129,679,019 (GRCm39) |
R335W |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,355,229 (GRCm39) |
D1005V |
probably damaging |
Het |
Myh3 |
T |
C |
11: 66,973,822 (GRCm39) |
F165S |
probably benign |
Het |
Nacc1 |
T |
C |
8: 85,401,420 (GRCm39) |
D419G |
probably benign |
Het |
Neb |
G |
A |
2: 52,099,486 (GRCm39) |
S4545L |
probably damaging |
Het |
Niban3 |
C |
T |
8: 72,052,721 (GRCm39) |
P65L |
probably damaging |
Het |
Npas2 |
T |
C |
1: 39,339,768 (GRCm39) |
I106T |
probably damaging |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or5b12 |
T |
C |
19: 12,896,843 (GRCm39) |
T277A |
probably benign |
Het |
Pde4dip |
T |
A |
3: 97,602,227 (GRCm39) |
Q2283L |
probably benign |
Het |
Phax |
C |
T |
18: 56,706,173 (GRCm39) |
T21M |
possibly damaging |
Het |
Pitpnm1 |
A |
T |
19: 4,152,829 (GRCm39) |
K79* |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,799,201 (GRCm39) |
F2807I |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,190,572 (GRCm39) |
R427C |
probably damaging |
Het |
Rad1 |
A |
G |
15: 10,492,907 (GRCm39) |
D208G |
probably damaging |
Het |
Rangrf |
T |
A |
11: 68,863,538 (GRCm39) |
N156I |
probably benign |
Het |
Rasl11b |
T |
C |
5: 74,359,037 (GRCm39) |
S181P |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,222,199 (GRCm39) |
|
probably null |
Het |
Rlf |
G |
A |
4: 121,006,557 (GRCm39) |
Q808* |
probably null |
Het |
Rogdi |
G |
T |
16: 4,831,241 (GRCm39) |
|
probably null |
Het |
Sec24a |
A |
T |
11: 51,608,603 (GRCm39) |
V573D |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,223,615 (GRCm39) |
T200A |
probably damaging |
Het |
Srgap2 |
C |
T |
1: 131,219,367 (GRCm39) |
R259H |
probably benign |
Het |
Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
Tcaf3 |
A |
T |
6: 42,574,193 (GRCm39) |
D6E |
possibly damaging |
Het |
Tdrd12 |
C |
T |
7: 35,189,473 (GRCm39) |
R421H |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,696,935 (GRCm39) |
M62T |
probably damaging |
Het |
Trhr |
T |
G |
15: 44,092,694 (GRCm39) |
Y310* |
probably null |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,331,353 (GRCm39) |
T1085A |
probably damaging |
Het |
Vmn1r179 |
T |
A |
7: 23,628,491 (GRCm39) |
H227Q |
possibly damaging |
Het |
Vmn1r31 |
A |
T |
6: 58,448,995 (GRCm39) |
M290K |
probably benign |
Het |
Wdr75 |
T |
C |
1: 45,841,291 (GRCm39) |
|
probably null |
Het |
Wnk1 |
A |
T |
6: 119,925,546 (GRCm39) |
V1306D |
probably damaging |
Het |
Xkr4 |
T |
C |
1: 3,741,001 (GRCm39) |
T191A |
probably benign |
Het |
Zc3h15 |
A |
G |
2: 83,491,567 (GRCm39) |
E265G |
probably benign |
Het |
Zcchc9 |
A |
G |
13: 91,948,816 (GRCm39) |
F41S |
possibly damaging |
Het |
Zfp251 |
T |
C |
15: 76,738,337 (GRCm39) |
H247R |
probably damaging |
Het |
Zfp433 |
A |
G |
10: 81,555,957 (GRCm39) |
E152G |
probably damaging |
Het |
Zfp770 |
A |
T |
2: 114,027,240 (GRCm39) |
S276R |
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 |
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'- TCTTCCCACATGACAAGGTG -3'
(R):5'- TAAGGTGACTGATGCAAGGTC -3'
Sequencing Primer
(F):5'- CATGACAAGGTGGCGATGCTG -3'
(R):5'- TAGTGAAGCCGAGCATCTTC -3'
|
Posted On |
2018-04-27 |