Incidental Mutation 'R7958:Ptprj'
| ID |
649932 |
| 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 |
046002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R7958 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90260098-90410939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90299971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 277
(I277V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129592
(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: I91V
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: I91V
| 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: I184V
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: I184V
| 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 |
possibly damaging
Transcript: ENSMUST00000168621
AA Change: I277V
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: I277V
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,911,464 (GRCm39) |
T571S |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,922,498 (GRCm39) |
Y1362H |
probably damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,356,202 (GRCm39) |
V63I |
probably benign |
Het |
| Alg8 |
T |
C |
7: 97,036,128 (GRCm39) |
C340R |
possibly damaging |
Het |
| BC028528 |
T |
C |
3: 95,796,224 (GRCm39) |
D46G |
probably benign |
Het |
| Cdh5 |
A |
T |
8: 104,839,649 (GRCm39) |
H40L |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,249,274 (GRCm39) |
T666A |
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,941,472 (GRCm39) |
D150G |
probably benign |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,677 (GRCm39) |
N49K |
probably benign |
Het |
| Dhrs4 |
T |
C |
14: 55,725,078 (GRCm39) |
L191P |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,179,298 (GRCm39) |
S41R |
probably damaging |
Het |
| Fam186a |
A |
T |
15: 99,841,189 (GRCm39) |
L1685H |
probably damaging |
Het |
| Fgfr1 |
G |
T |
8: 26,022,358 (GRCm39) |
W2L |
probably benign |
Het |
| Fpr-rs6 |
T |
A |
17: 20,402,705 (GRCm39) |
I219F |
probably damaging |
Het |
| Gm28360 |
T |
A |
1: 117,781,409 (GRCm39) |
C133* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,393,475 (GRCm39) |
D4118G |
probably damaging |
Het |
| Hhatl |
A |
G |
9: 121,613,652 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
T |
A |
8: 82,696,218 (GRCm39) |
L384H |
probably damaging |
Het |
| Klhl12 |
G |
A |
1: 134,395,455 (GRCm39) |
R139K |
probably benign |
Het |
| Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
| Krtap19-4 |
A |
G |
16: 88,681,833 (GRCm39) |
F41S |
unknown |
Het |
| Lifr |
T |
C |
15: 7,211,478 (GRCm39) |
V672A |
possibly damaging |
Het |
| Lrrc25 |
A |
G |
8: 71,070,497 (GRCm39) |
T93A |
possibly damaging |
Het |
| Map7 |
T |
A |
10: 20,105,575 (GRCm39) |
S9T |
unknown |
Het |
| Mycbp2 |
A |
T |
14: 103,367,400 (GRCm39) |
F4281L |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,612,173 (GRCm39) |
I162V |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,732,383 (GRCm39) |
V1293A |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,340,742 (GRCm39) |
S1993P |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Oas2 |
C |
T |
5: 120,886,831 (GRCm39) |
E112K |
probably benign |
Het |
| Oosp3 |
A |
T |
19: 11,682,820 (GRCm39) |
I163F |
probably benign |
Het |
| Or8a1 |
A |
G |
9: 37,641,682 (GRCm39) |
F199S |
probably damaging |
Het |
| Phkb |
G |
T |
8: 86,748,292 (GRCm39) |
E710D |
probably benign |
Het |
| Plekhg4 |
A |
T |
8: 106,103,281 (GRCm39) |
D318V |
possibly damaging |
Het |
| Potefam1 |
T |
C |
2: 111,000,670 (GRCm39) |
E183G |
unknown |
Het |
| Ranbp17 |
A |
G |
11: 33,437,702 (GRCm39) |
S179P |
probably damaging |
Het |
| Scaf8 |
G |
A |
17: 3,221,397 (GRCm39) |
V295M |
unknown |
Het |
| Scn3a |
T |
A |
2: 65,336,537 (GRCm39) |
I690F |
probably damaging |
Het |
| Serpinb1b |
A |
T |
13: 33,273,636 (GRCm39) |
K110N |
possibly damaging |
Het |
| Sgsh |
T |
C |
11: 119,243,599 (GRCm39) |
N41S |
probably damaging |
Het |
| Sh2d1b1 |
A |
G |
1: 170,110,704 (GRCm39) |
T67A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,480,980 (GRCm39) |
L958M |
unknown |
Het |
| Spg11 |
T |
A |
2: 121,923,426 (GRCm39) |
|
probably null |
Het |
| Spo11 |
T |
A |
2: 172,825,815 (GRCm39) |
D84E |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,001,956 (GRCm39) |
E29K |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,040,286 (GRCm39) |
V2310A |
probably benign |
Het |
| Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,985,079 (GRCm39) |
|
probably null |
Het |
| Tjp3 |
C |
T |
10: 81,118,828 (GRCm39) |
V69I |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,539,484 (GRCm39) |
V425A |
probably benign |
Het |
| Vmn1r151 |
A |
T |
7: 22,198,492 (GRCm39) |
S204R |
probably damaging |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,059 (GRCm39) |
I170N |
probably damaging |
Het |
| Vmn1r65 |
A |
G |
7: 6,011,254 (GRCm39) |
S327P |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,262,988 (GRCm39) |
I158V |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,338,454 (GRCm39) |
M21L |
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 |
|
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'- GGAAAACCTGCCAGCAATTC -3'
(R):5'- GCTGCAGATGCTTTTCTCAC -3'
Sequencing Primer
(F):5'- GGAAAACCTGCCAGCAATTCTAAAAC -3'
(R):5'- TCTCACTAATACCCATGGTGTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation