Incidental Mutation 'R3758:Ptprt'
| ID |
271511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprt
|
| Ensembl Gene |
ENSMUSG00000053141 |
| Gene Name |
protein tyrosine phosphatase, receptor type, T |
| Synonyms |
RPTPrho |
| MMRRC Submission |
040739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R3758 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
161521990-162661147 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 161812030 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 560
(L560Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109441]
[ENSMUST00000109442]
[ENSMUST00000109443]
[ENSMUST00000109445]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109441
AA Change: L560Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: L560Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
MAM
|
31 |
195 |
2.21e-71 |
SMART |
|
IG
|
202 |
290 |
3.94e-2 |
SMART |
|
FN3
|
292 |
375 |
3.35e-3 |
SMART |
|
FN3
|
388 |
477 |
4.06e-2 |
SMART |
|
FN3
|
489 |
579 |
1.2e-4 |
SMART |
|
transmembrane domain
|
753 |
772 |
N/A |
INTRINSIC |
|
PTPc
|
882 |
1159 |
3.64e-129 |
SMART |
|
PTPc
|
1188 |
1453 |
4.24e-98 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109442
AA Change: L560Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: L560Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
MAM
|
31 |
195 |
2.21e-71 |
SMART |
|
IG
|
202 |
290 |
3.94e-2 |
SMART |
|
FN3
|
292 |
375 |
3.35e-3 |
SMART |
|
FN3
|
388 |
477 |
4.06e-2 |
SMART |
|
FN3
|
489 |
579 |
1.2e-4 |
SMART |
|
low complexity region
|
738 |
749 |
N/A |
INTRINSIC |
|
transmembrane domain
|
772 |
791 |
N/A |
INTRINSIC |
|
PTPc
|
901 |
1158 |
5.56e-134 |
SMART |
|
PTPc
|
1187 |
1452 |
4.24e-98 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109443
AA Change: L560Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: L560Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
MAM
|
31 |
195 |
2.21e-71 |
SMART |
|
IG
|
202 |
290 |
3.94e-2 |
SMART |
|
FN3
|
292 |
375 |
3.35e-3 |
SMART |
|
FN3
|
388 |
477 |
4.06e-2 |
SMART |
|
FN3
|
489 |
579 |
1.2e-4 |
SMART |
|
low complexity region
|
778 |
792 |
N/A |
INTRINSIC |
|
PTPc
|
892 |
1149 |
5.56e-134 |
SMART |
|
PTPc
|
1178 |
1443 |
4.24e-98 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109445
AA Change: L560Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: L560Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
MAM
|
31 |
195 |
2.21e-71 |
SMART |
|
IG
|
202 |
290 |
3.94e-2 |
SMART |
|
FN3
|
292 |
375 |
3.35e-3 |
SMART |
|
FN3
|
388 |
477 |
4.06e-2 |
SMART |
|
FN3
|
489 |
579 |
1.2e-4 |
SMART |
|
transmembrane domain
|
753 |
772 |
N/A |
INTRINSIC |
|
PTPc
|
882 |
1139 |
5.56e-134 |
SMART |
|
PTPc
|
1168 |
1433 |
4.24e-98 |
SMART |
|
| Meta Mutation Damage Score |
0.8367 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
93% (28/30) |
| 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, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 12,927,467 |
|
probably benign |
Het |
| Bcat1 |
T |
A |
6: 145,032,872 |
I208F |
probably damaging |
Het |
| Cage1 |
A |
C |
13: 38,025,729 |
F91V |
possibly damaging |
Het |
| Cd200r3 |
T |
G |
16: 44,964,628 |
|
probably null |
Het |
| Coq8b |
C |
T |
7: 27,242,227 |
Q246* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 49,935,317 |
G2719D |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,256,381 |
S616P |
probably damaging |
Het |
| Fkbp10 |
G |
A |
11: 100,422,625 |
|
probably null |
Het |
| Gabra1 |
G |
T |
11: 42,175,936 |
D50E |
probably benign |
Het |
| Hist1h1e |
T |
A |
13: 23,622,257 |
K81* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,291,090 |
N103S |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,895,970 |
H2549R |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,776,049 |
E2726G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 158,163,965 |
N706D |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 18,262,703 |
|
probably null |
Het |
| Nipa2 |
T |
C |
7: 55,935,941 |
Y102C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,724,308 |
C32* |
probably null |
Het |
| Olfr1251 |
A |
G |
2: 89,667,572 |
F105L |
probably benign |
Het |
| Olfr582 |
A |
G |
7: 103,041,970 |
S159G |
probably benign |
Het |
| Olfr745 |
A |
G |
14: 50,643,036 |
K252E |
possibly damaging |
Het |
| Olfr777 |
T |
C |
10: 129,269,065 |
D86G |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,343,026 |
D405G |
possibly damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,035,588 |
Y166C |
probably damaging |
Het |
| Soga1 |
T |
C |
2: 157,020,638 |
N1457S |
possibly damaging |
Het |
| Sprr1a |
T |
G |
3: 92,484,397 |
K99T |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,995,871 |
V133A |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 80,024,942 |
T391A |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 156,065,289 |
E447G |
probably damaging |
Het |
| Ube4a |
G |
A |
9: 44,949,900 |
|
probably benign |
Het |
| Wdfy4 |
A |
C |
14: 33,023,374 |
H2296Q |
probably benign |
Het |
|
| Other mutations in Ptprt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Ptprt
|
APN |
2 |
161810624 |
missense |
probably benign |
0.00 |
|
IGL00565:Ptprt
|
APN |
2 |
161560191 |
missense |
probably damaging |
1.00 |
|
IGL00925:Ptprt
|
APN |
2 |
161656163 |
missense |
possibly damaging |
0.52 |
|
IGL01344:Ptprt
|
APN |
2 |
161551817 |
missense |
probably damaging |
1.00 |
|
IGL01432:Ptprt
|
APN |
2 |
162268079 |
splice site |
probably benign |
|
|
IGL02008:Ptprt
|
APN |
2 |
161927673 |
missense |
probably benign |
0.02 |
|
IGL02040:Ptprt
|
APN |
2 |
162238072 |
missense |
probably damaging |
1.00 |
|
IGL02172:Ptprt
|
APN |
2 |
161555502 |
missense |
probably damaging |
1.00 |
|
IGL02231:Ptprt
|
APN |
2 |
162238060 |
missense |
probably damaging |
1.00 |
|
IGL02231:Ptprt
|
APN |
2 |
162278046 |
critical splice donor site |
probably null |
|
|
IGL02232:Ptprt
|
APN |
2 |
161530517 |
missense |
probably damaging |
0.96 |
|
IGL02277:Ptprt
|
APN |
2 |
161547381 |
missense |
probably damaging |
1.00 |
|
IGL02447:Ptprt
|
APN |
2 |
162278107 |
missense |
probably benign |
0.01 |
|
IGL02601:Ptprt
|
APN |
2 |
161766307 |
missense |
probably benign |
0.10 |
|
IGL02623:Ptprt
|
APN |
2 |
161607452 |
splice site |
probably benign |
|
|
IGL03379:Ptprt
|
APN |
2 |
161555459 |
nonsense |
probably null |
|
|
Poverina
|
UTSW |
2 |
161901497 |
missense |
possibly damaging |
0.70 |
|
IGL03055:Ptprt
|
UTSW |
2 |
161533613 |
missense |
probably damaging |
0.96 |
|
R0064:Ptprt
|
UTSW |
2 |
161927791 |
splice site |
probably benign |
|
|
R0129:Ptprt
|
UTSW |
2 |
162278070 |
missense |
probably benign |
0.35 |
|
R0131:Ptprt
|
UTSW |
2 |
162278110 |
missense |
probably benign |
0.00 |
|
R0131:Ptprt
|
UTSW |
2 |
162278110 |
missense |
probably benign |
0.00 |
|
R0132:Ptprt
|
UTSW |
2 |
162278110 |
missense |
probably benign |
0.00 |
|
R0316:Ptprt
|
UTSW |
2 |
161607319 |
missense |
probably damaging |
1.00 |
|
R0454:Ptprt
|
UTSW |
2 |
161553822 |
missense |
probably damaging |
0.96 |
|
R0488:Ptprt
|
UTSW |
2 |
161553825 |
missense |
probably damaging |
0.99 |
|
R0573:Ptprt
|
UTSW |
2 |
161551748 |
missense |
probably damaging |
1.00 |
|
R0614:Ptprt
|
UTSW |
2 |
161812120 |
missense |
possibly damaging |
0.59 |
|
R0834:Ptprt
|
UTSW |
2 |
161812139 |
splice site |
probably null |
|
|
R1023:Ptprt
|
UTSW |
2 |
161558943 |
missense |
probably damaging |
1.00 |
|
R1184:Ptprt
|
UTSW |
2 |
161927772 |
missense |
possibly damaging |
0.82 |
|
R1253:Ptprt
|
UTSW |
2 |
162278226 |
missense |
probably damaging |
1.00 |
|
R1476:Ptprt
|
UTSW |
2 |
161927484 |
missense |
probably damaging |
1.00 |
|
R1515:Ptprt
|
UTSW |
2 |
162238034 |
missense |
probably damaging |
1.00 |
|
R1595:Ptprt
|
UTSW |
2 |
161810549 |
critical splice donor site |
probably null |
|
|
R1939:Ptprt
|
UTSW |
2 |
161927640 |
missense |
probably benign |
0.45 |
|
R1987:Ptprt
|
UTSW |
2 |
161558898 |
missense |
probably damaging |
1.00 |
|
R1987:Ptprt
|
UTSW |
2 |
161766321 |
missense |
possibly damaging |
0.48 |
|
R2049:Ptprt
|
UTSW |
2 |
161534545 |
missense |
probably damaging |
1.00 |
|
R2140:Ptprt
|
UTSW |
2 |
161811988 |
missense |
probably damaging |
1.00 |
|
R2421:Ptprt
|
UTSW |
2 |
162278040 |
splice site |
probably benign |
|
|
R3432:Ptprt
|
UTSW |
2 |
161927529 |
missense |
probably damaging |
1.00 |
|
R3619:Ptprt
|
UTSW |
2 |
161566157 |
missense |
probably damaging |
1.00 |
|
R3757:Ptprt
|
UTSW |
2 |
161812030 |
missense |
probably damaging |
1.00 |
|
R3834:Ptprt
|
UTSW |
2 |
161547387 |
missense |
probably damaging |
1.00 |
|
R3835:Ptprt
|
UTSW |
2 |
161547387 |
missense |
probably damaging |
1.00 |
|
R3915:Ptprt
|
UTSW |
2 |
161555555 |
splice site |
probably benign |
|
|
R4003:Ptprt
|
UTSW |
2 |
161566117 |
splice site |
probably benign |
|
|
R4387:Ptprt
|
UTSW |
2 |
161927650 |
missense |
probably damaging |
1.00 |
|
R4519:Ptprt
|
UTSW |
2 |
161564689 |
missense |
probably damaging |
1.00 |
|
R4618:Ptprt
|
UTSW |
2 |
161553845 |
missense |
probably damaging |
1.00 |
|
R4677:Ptprt
|
UTSW |
2 |
161901446 |
critical splice donor site |
probably null |
|
|
R4866:Ptprt
|
UTSW |
2 |
161560239 |
missense |
probably damaging |
1.00 |
|
R5088:Ptprt
|
UTSW |
2 |
162238175 |
missense |
probably benign |
0.01 |
|
R5173:Ptprt
|
UTSW |
2 |
161927756 |
missense |
probably benign |
0.01 |
|
R5215:Ptprt
|
UTSW |
2 |
162278164 |
missense |
probably damaging |
1.00 |
|
R5383:Ptprt
|
UTSW |
2 |
161698049 |
missense |
probably damaging |
1.00 |
|
R5398:Ptprt
|
UTSW |
2 |
161927592 |
missense |
probably damaging |
1.00 |
|
R5518:Ptprt
|
UTSW |
2 |
162278223 |
missense |
probably damaging |
0.99 |
|
R5711:Ptprt
|
UTSW |
2 |
161810604 |
missense |
probably damaging |
0.98 |
|
R5735:Ptprt
|
UTSW |
2 |
161534564 |
missense |
probably damaging |
0.98 |
|
R5834:Ptprt
|
UTSW |
2 |
161560269 |
missense |
probably damaging |
1.00 |
|
R5872:Ptprt
|
UTSW |
2 |
162135218 |
missense |
probably damaging |
1.00 |
|
R5926:Ptprt
|
UTSW |
2 |
161564686 |
missense |
probably benign |
0.00 |
|
R6210:Ptprt
|
UTSW |
2 |
162268029 |
missense |
probably damaging |
1.00 |
|
R6285:Ptprt
|
UTSW |
2 |
161901497 |
missense |
possibly damaging |
0.70 |
|
R6298:Ptprt
|
UTSW |
2 |
161553859 |
missense |
probably damaging |
1.00 |
|
R6406:Ptprt
|
UTSW |
2 |
161553783 |
missense |
probably damaging |
0.98 |
|
R6499:Ptprt
|
UTSW |
2 |
161534587 |
missense |
probably benign |
0.32 |
|
R6613:Ptprt
|
UTSW |
2 |
161530447 |
missense |
probably damaging |
1.00 |
|
R6622:Ptprt
|
UTSW |
2 |
161553840 |
missense |
probably damaging |
1.00 |
|
R7218:Ptprt
|
UTSW |
2 |
161547364 |
missense |
probably damaging |
1.00 |
|
R7247:Ptprt
|
UTSW |
2 |
161533523 |
missense |
probably benign |
0.15 |
|
R7576:Ptprt
|
UTSW |
2 |
161607305 |
missense |
possibly damaging |
0.88 |
|
R7733:Ptprt
|
UTSW |
2 |
161575787 |
missense |
probably damaging |
1.00 |
|
R7735:Ptprt
|
UTSW |
2 |
161575741 |
missense |
probably damaging |
1.00 |
|
R7813:Ptprt
|
UTSW |
2 |
161530493 |
missense |
probably damaging |
1.00 |
|
R8031:Ptprt
|
UTSW |
2 |
162135457 |
missense |
probably damaging |
1.00 |
|
R8074:Ptprt
|
UTSW |
2 |
161927661 |
missense |
possibly damaging |
0.77 |
|
R8151:Ptprt
|
UTSW |
2 |
162278085 |
missense |
probably damaging |
1.00 |
|
R8236:Ptprt
|
UTSW |
2 |
161687068 |
critical splice donor site |
probably null |
|
|
R8308:Ptprt
|
UTSW |
2 |
161927646 |
missense |
probably benign |
0.00 |
|
R8348:Ptprt
|
UTSW |
2 |
161558886 |
missense |
probably damaging |
1.00 |
|
R8362:Ptprt
|
UTSW |
2 |
161551747 |
missense |
probably damaging |
1.00 |
|
R8365:Ptprt
|
UTSW |
2 |
161901531 |
missense |
probably benign |
0.05 |
|
R8448:Ptprt
|
UTSW |
2 |
161558886 |
missense |
probably damaging |
1.00 |
|
R8512:Ptprt
|
UTSW |
2 |
161558863 |
missense |
probably benign |
0.00 |
|
R8715:Ptprt
|
UTSW |
2 |
161530543 |
missense |
probably damaging |
1.00 |
|
R9004:Ptprt
|
UTSW |
2 |
161766394 |
missense |
probably benign |
0.04 |
|
R9046:Ptprt
|
UTSW |
2 |
161530441 |
missense |
possibly damaging |
0.58 |
|
R9222:Ptprt
|
UTSW |
2 |
161560186 |
missense |
probably damaging |
1.00 |
|
R9297:Ptprt
|
UTSW |
2 |
161575778 |
missense |
probably benign |
|
|
R9318:Ptprt
|
UTSW |
2 |
161575778 |
missense |
probably benign |
|
|
R9476:Ptprt
|
UTSW |
2 |
161555461 |
missense |
probably damaging |
1.00 |
|
R9510:Ptprt
|
UTSW |
2 |
161555461 |
missense |
probably damaging |
1.00 |
|
R9571:Ptprt
|
UTSW |
2 |
161553812 |
missense |
probably benign |
0.10 |
|
X0064:Ptprt
|
UTSW |
2 |
161927483 |
missense |
probably damaging |
1.00 |
|
Z1088:Ptprt
|
UTSW |
2 |
162238121 |
missense |
possibly damaging |
0.86 |
|
Z1177:Ptprt
|
UTSW |
2 |
161732887 |
missense |
probably damaging |
1.00 |
|
Z1177:Ptprt
|
UTSW |
2 |
162362948 |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGTTCCATTGCCATCAGTG -3'
(R):5'- GTCACATAGTGGCTTAGCTTACC -3'
Sequencing Primer
(F):5'- CCATTGCCATCAGTGATAGTTG -3'
(R):5'- GCTGCCCCTCTCTAGTGAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation