Incidental Mutation 'R6724:Ptprj'
| ID |
529741 |
| 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 |
044842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R6724 (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 90281195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1015
(D1015G)
|
| 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: D829G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: D829G
| 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: D922G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: D922G
| 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: D1015G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: D1015G
| 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 |
0.0671 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (63/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
T |
A |
16: 85,665,445 (GRCm39) |
T619S |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,604,210 (GRCm39) |
A467T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,391,509 (GRCm39) |
I416N |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,733 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
A |
6: 18,255,973 (GRCm39) |
Y567* |
probably null |
Het |
| Cnr1 |
T |
A |
4: 33,944,728 (GRCm39) |
M372K |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,706,874 (GRCm39) |
T2080A |
unknown |
Het |
| Crybg3 |
A |
T |
16: 59,364,501 (GRCm39) |
C2374S |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,457,164 (GRCm39) |
I3544V |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,518,180 (GRCm39) |
D1809V |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajb12 |
A |
G |
10: 59,728,602 (GRCm39) |
D190G |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,736,817 (GRCm39) |
V319D |
probably damaging |
Het |
| Eif1ad6 |
A |
T |
12: 87,668,754 (GRCm39) |
I129F |
unknown |
Het |
| Ercc6 |
A |
T |
14: 32,288,288 (GRCm39) |
E820V |
probably benign |
Het |
| Fip1l1 |
T |
G |
5: 74,752,435 (GRCm39) |
V378G |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,911,552 (GRCm39) |
Y358F |
possibly damaging |
Het |
| Gcn1 |
T |
G |
5: 115,747,217 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
T |
A |
2: 169,429,402 (GRCm39) |
T28S |
unknown |
Het |
| Guf1 |
C |
A |
5: 69,723,736 (GRCm39) |
N438K |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,192,719 (GRCm39) |
E223G |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,711,473 (GRCm39) |
|
probably null |
Het |
| Isl2 |
A |
G |
9: 55,448,572 (GRCm39) |
D3G |
possibly damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,664 (GRCm39) |
Y512C |
probably damaging |
Het |
| Kifc1 |
T |
A |
17: 34,105,707 (GRCm39) |
|
probably null |
Het |
| Klhdc10 |
A |
G |
6: 30,446,640 (GRCm39) |
D183G |
probably damaging |
Het |
| Klra5 |
T |
A |
6: 129,883,643 (GRCm39) |
K71N |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,504 (GRCm39) |
H559R |
possibly damaging |
Het |
| Maml3 |
T |
C |
3: 51,763,296 (GRCm39) |
N556S |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 65,038,264 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,786 (GRCm39) |
S293P |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,535,479 (GRCm39) |
S1282P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,096,828 (GRCm39) |
|
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,309 (GRCm39) |
F254I |
probably benign |
Het |
| Or4c108 |
T |
G |
2: 88,803,612 (GRCm39) |
I208L |
probably benign |
Het |
| Or8u10 |
A |
T |
2: 85,915,701 (GRCm39) |
V140E |
possibly damaging |
Het |
| Or9m1 |
T |
G |
2: 87,733,946 (GRCm39) |
S25R |
probably benign |
Het |
| Pkn3 |
C |
A |
2: 29,980,562 (GRCm39) |
R818S |
possibly damaging |
Het |
| Plekha3 |
T |
A |
2: 76,517,745 (GRCm39) |
H190Q |
probably damaging |
Het |
| Ppp2r3c |
A |
T |
12: 55,335,281 (GRCm39) |
S261T |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,679,037 (GRCm39) |
M503T |
possibly damaging |
Het |
| Pvr |
T |
C |
7: 19,652,604 (GRCm39) |
R104G |
possibly damaging |
Het |
| Rubcnl |
A |
G |
14: 75,289,450 (GRCm39) |
R653G |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,083 (GRCm39) |
L336Q |
probably damaging |
Het |
| Serpina1a |
G |
T |
12: 103,826,679 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,416,656 (GRCm39) |
R265Q |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,110,928 (GRCm39) |
R433H |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,779,726 (GRCm39) |
I30T |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,711,992 (GRCm39) |
N161K |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,492 (GRCm39) |
R259G |
probably damaging |
Het |
| Top1 |
G |
A |
2: 160,554,616 (GRCm39) |
V456M |
probably damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,810,257 (GRCm39) |
A649V |
probably benign |
Het |
| Trank1 |
C |
G |
9: 111,194,984 (GRCm39) |
R1003G |
probably damaging |
Het |
| Tril |
T |
A |
6: 53,796,559 (GRCm39) |
H221L |
possibly damaging |
Het |
| Unc79 |
C |
T |
12: 103,071,120 (GRCm39) |
T1305I |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,722,350 (GRCm39) |
A2988V |
possibly damaging |
Het |
| Vinac1 |
A |
C |
2: 128,879,976 (GRCm39) |
V650G |
probably benign |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,599 (GRCm39) |
M3K |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
probably damaging |
Het |
| Vwa3b |
G |
A |
1: 37,084,112 (GRCm39) |
R95Q |
probably damaging |
Het |
| Wdr6 |
G |
A |
9: 108,452,093 (GRCm39) |
H597Y |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,774 (GRCm39) |
T624I |
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 |
|
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'- AGAACTTCCATATGACTGTGGC -3'
(R):5'- AGTTTGCAGATAGTTTGCATGTCC -3'
Sequencing Primer
(F):5'- TGGCCAATCTGTCAATCAGG -3'
(R):5'- CTGTGAAGAGAGGTGTCT -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation