Incidental Mutation 'R7072:Ptpra'
| ID |
548936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpra
|
| Ensembl Gene |
ENSMUSG00000027303 |
| Gene Name |
protein tyrosine phosphatase receptor type A |
| Synonyms |
PTP[a], RPTRalpha, PTPalpha, RPTPalpha, Ptpa |
| MMRRC Submission |
045168-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130292198-130396220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130395350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 818
(Y818H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028769]
[ENSMUST00000077303]
|
| AlphaFold |
P18052 |
| PDB Structure |
Crystal structure of the D2 domain of RPTPa [X-RAY DIFFRACTION]
RECEPTOR PROTEIN TYROSINE PHOSPHATASE ALPHA, DOMAIN 1 FROM MOUSE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028769
AA Change: Y782H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: Y782H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
|
PTPc
|
231 |
494 |
6.01e-130 |
SMART |
|
PTPc
|
523 |
784 |
3.56e-132 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077303
AA Change: Y818H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: Y818H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
|
PTPc
|
231 |
530 |
2.03e-118 |
SMART |
|
PTPc
|
559 |
820 |
3.56e-132 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (73/73) |
| 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 contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit deficits in Morris water maze learning, reduced locomotor activity, and decreased anxiety. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,592 (GRCm39) |
L2214Q |
probably damaging |
Het |
| Acbd3 |
T |
C |
1: 180,553,934 (GRCm39) |
F90L |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,751,786 (GRCm39) |
Q23L |
|
Het |
| Anpep |
A |
T |
7: 79,485,127 (GRCm39) |
L620I |
possibly damaging |
Het |
| Bpi |
T |
C |
2: 158,113,998 (GRCm39) |
S299P |
probably damaging |
Het |
| Bpifa2 |
A |
G |
2: 153,853,293 (GRCm39) |
D132G |
probably damaging |
Het |
| Brd7 |
T |
A |
8: 89,073,615 (GRCm39) |
E258D |
probably benign |
Het |
| Btc |
T |
C |
5: 91,550,796 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
A |
G |
6: 118,573,067 (GRCm39) |
V2039A |
|
Het |
| Calm4 |
T |
A |
13: 3,888,275 (GRCm39) |
V127E |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,644,766 (GRCm39) |
S1280T |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,748,803 (GRCm39) |
V80A |
unknown |
Het |
| Ccdc33 |
A |
G |
9: 58,019,267 (GRCm39) |
*279R |
probably null |
Het |
| Cercam |
T |
A |
2: 29,771,936 (GRCm39) |
H585Q |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,429,296 (GRCm39) |
D138G |
probably benign |
Het |
| Cox4i2 |
T |
C |
2: 152,602,573 (GRCm39) |
F89S |
probably damaging |
Het |
| Crb1 |
G |
A |
1: 139,165,013 (GRCm39) |
T1098I |
probably damaging |
Het |
| Csnk1e |
C |
T |
15: 79,322,967 (GRCm39) |
|
probably null |
Het |
| Ctsj |
C |
A |
13: 61,150,897 (GRCm39) |
E187* |
probably null |
Het |
| Dagla |
A |
T |
19: 10,233,659 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
G |
A |
1: 53,458,912 (GRCm39) |
T3742I |
probably benign |
Het |
| Dnajc6 |
A |
C |
4: 101,472,812 (GRCm39) |
H381P |
probably damaging |
Het |
| Dyrk3 |
A |
T |
1: 131,057,465 (GRCm39) |
L236Q |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
| Frmd5 |
A |
T |
2: 121,388,351 (GRCm39) |
L241Q |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,106,749 (GRCm39) |
T662A |
probably benign |
Het |
| Gins1 |
C |
T |
2: 150,751,671 (GRCm39) |
|
probably null |
Het |
| Gli3 |
T |
A |
13: 15,900,280 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Gm4302 |
G |
T |
10: 100,177,521 (GRCm39) |
Q268H |
unknown |
Het |
| Grin2d |
A |
T |
7: 45,506,922 (GRCm39) |
W518R |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,723,512 (GRCm39) |
I601F |
probably damaging |
Het |
| Gtpbp10 |
A |
T |
5: 5,596,365 (GRCm39) |
N193K |
probably benign |
Het |
| Igdcc4 |
T |
G |
9: 65,038,013 (GRCm39) |
V798G |
probably damaging |
Het |
| Igkv8-19 |
A |
T |
6: 70,318,396 (GRCm39) |
F13I |
probably benign |
Het |
| Kctd11 |
T |
A |
11: 69,770,621 (GRCm39) |
N139I |
probably benign |
Het |
| Lmo7 |
G |
A |
14: 102,136,136 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
T |
15: 91,686,123 (GRCm39) |
M2155L |
probably benign |
Het |
| Ly6g6g |
C |
T |
15: 74,644,119 (GRCm39) |
V66M |
|
Het |
| Mettl24 |
A |
C |
10: 40,559,509 (GRCm39) |
H53P |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,376,133 (GRCm39) |
M264T |
unknown |
Het |
| Mplkip |
T |
C |
13: 17,870,122 (GRCm39) |
I18T |
unknown |
Het |
| Mtmr2 |
T |
C |
9: 13,699,916 (GRCm39) |
V101A |
probably benign |
Het |
| Nbeal2 |
G |
T |
9: 110,455,119 (GRCm39) |
T2593K |
probably benign |
Het |
| Neu3 |
A |
T |
7: 99,463,404 (GRCm39) |
C106* |
probably null |
Het |
| Nutm1 |
T |
C |
2: 112,082,192 (GRCm39) |
T295A |
probably benign |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,481,269 (GRCm39) |
I90T |
probably benign |
Het |
| Pcdhga7 |
G |
T |
18: 37,850,329 (GRCm39) |
V779L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,161,858 (GRCm39) |
E231G |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,316,574 (GRCm39) |
|
probably null |
Het |
| Pofut2 |
T |
C |
10: 77,095,263 (GRCm39) |
L36P |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,299,754 (GRCm39) |
N635S |
|
Het |
| Pramel14 |
A |
C |
4: 143,720,698 (GRCm39) |
I81R |
probably damaging |
Het |
| Rad18 |
T |
C |
6: 112,658,401 (GRCm39) |
E168G |
probably benign |
Het |
| Rev1 |
C |
A |
1: 38,106,626 (GRCm39) |
E634* |
probably null |
Het |
| Sec24d |
A |
G |
3: 123,124,000 (GRCm39) |
D403G |
probably damaging |
Het |
| Sema5a |
C |
A |
15: 32,575,105 (GRCm39) |
H404Q |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 43,994,370 (GRCm39) |
S844G |
unknown |
Het |
| Slc32a1 |
T |
A |
2: 158,453,416 (GRCm39) |
Y85* |
probably null |
Het |
| Slc39a4 |
T |
C |
15: 76,497,458 (GRCm39) |
T485A |
probably damaging |
Het |
| Sp5 |
A |
C |
2: 70,307,074 (GRCm39) |
Q253P |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,431,913 (GRCm39) |
D709V |
probably damaging |
Het |
| Sucnr1 |
A |
G |
3: 59,993,604 (GRCm39) |
Y44C |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,876 (GRCm39) |
L106P |
possibly damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,991,494 (GRCm39) |
D922G |
probably damaging |
Het |
| Tbx6 |
A |
T |
7: 126,383,912 (GRCm39) |
D322V |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,065,459 (GRCm39) |
S1630T |
possibly damaging |
Het |
| Ube2o |
G |
A |
11: 116,432,327 (GRCm39) |
P880S |
probably benign |
Het |
| Uck1 |
C |
T |
2: 32,148,178 (GRCm39) |
R182Q |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,340,957 (GRCm39) |
H2840L |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,914,822 (GRCm39) |
I1909N |
unknown |
Het |
| Zfp352 |
C |
T |
4: 90,112,661 (GRCm39) |
T267I |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,874 (GRCm39) |
C241S |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,668,339 (GRCm39) |
D8G |
probably damaging |
Het |
|
| Other mutations in Ptpra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Ptpra
|
APN |
2 |
130,386,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01734:Ptpra
|
APN |
2 |
130,385,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Ptpra
|
APN |
2 |
30,333,308 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02073:Ptpra
|
APN |
2 |
30,333,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Ptpra
|
APN |
2 |
30,336,389 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02218:Ptpra
|
APN |
2 |
130,394,255 (GRCm39) |
splice site |
probably benign |
|
|
IGL02385:Ptpra
|
APN |
2 |
130,382,393 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02480:Ptpra
|
APN |
2 |
130,346,181 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03181:Ptpra
|
APN |
2 |
130,359,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0374:Ptpra
|
UTSW |
2 |
130,379,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Ptpra
|
UTSW |
2 |
130,381,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Ptpra
|
UTSW |
2 |
130,360,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Ptpra
|
UTSW |
2 |
130,383,313 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1596:Ptpra
|
UTSW |
2 |
130,386,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Ptpra
|
UTSW |
2 |
30,327,602 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1689:Ptpra
|
UTSW |
2 |
130,345,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1760:Ptpra
|
UTSW |
2 |
130,391,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Ptpra
|
UTSW |
2 |
130,386,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Ptpra
|
UTSW |
2 |
130,381,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Ptpra
|
UTSW |
2 |
130,381,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Ptpra
|
UTSW |
2 |
130,381,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Ptpra
|
UTSW |
2 |
130,346,219 (GRCm39) |
missense |
probably benign |
|
|
R2848:Ptpra
|
UTSW |
2 |
130,386,919 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2849:Ptpra
|
UTSW |
2 |
130,386,919 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3962:Ptpra
|
UTSW |
2 |
30,325,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Ptpra
|
UTSW |
2 |
30,333,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4644:Ptpra
|
UTSW |
2 |
130,386,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Ptpra
|
UTSW |
2 |
130,379,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Ptpra
|
UTSW |
2 |
130,374,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4899:Ptpra
|
UTSW |
2 |
130,386,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5186:Ptpra
|
UTSW |
2 |
30,328,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5657:Ptpra
|
UTSW |
2 |
130,346,204 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6018:Ptpra
|
UTSW |
2 |
130,345,422 (GRCm39) |
missense |
probably benign |
|
|
R6234:Ptpra
|
UTSW |
2 |
130,379,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6350:Ptpra
|
UTSW |
2 |
130,382,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6622:Ptpra
|
UTSW |
2 |
30,327,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Ptpra
|
UTSW |
2 |
130,361,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Ptpra
|
UTSW |
2 |
130,379,571 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7220:Ptpra
|
UTSW |
2 |
130,386,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Ptpra
|
UTSW |
2 |
130,395,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Ptpra
|
UTSW |
2 |
130,346,126 (GRCm39) |
missense |
probably benign |
|
|
R7943:Ptpra
|
UTSW |
2 |
30,322,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8044:Ptpra
|
UTSW |
2 |
130,386,881 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8190:Ptpra
|
UTSW |
2 |
30,328,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8231:Ptpra
|
UTSW |
2 |
130,379,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8404:Ptpra
|
UTSW |
2 |
130,391,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:Ptpra
|
UTSW |
2 |
130,374,091 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8502:Ptpra
|
UTSW |
2 |
130,391,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Ptpra
|
UTSW |
2 |
130,394,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8952:Ptpra
|
UTSW |
2 |
130,386,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Ptpra
|
UTSW |
2 |
30,328,256 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9147:Ptpra
|
UTSW |
2 |
30,328,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Ptpra
|
UTSW |
2 |
30,328,256 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9148:Ptpra
|
UTSW |
2 |
30,328,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Ptpra
|
UTSW |
2 |
130,384,366 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCTGCCTGTAGAAGATC -3'
(R):5'- CCTAACAGGTAATAGAAGCCTATGTG -3'
Sequencing Primer
(F):5'- TTATTCCCAGCACTCAGGAGG -3'
(R):5'- GGTAATAGAAGCCTATGTGCCATTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation