Incidental Mutation 'R6950:Ptpru'
| ID |
541203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpru
|
| Ensembl Gene |
ENSMUSG00000028909 |
| Gene Name |
protein tyrosine phosphatase receptor type U |
| Synonyms |
RPTPlambda, Ptprl |
| MMRRC Submission |
045062-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
131495768-131565599 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131503663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1132
(E1132D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030741]
[ENSMUST00000105987]
|
| AlphaFold |
B1AUH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030741
AA Change: E1132D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: E1132D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
MAM
|
22 |
188 |
5.58e-68 |
SMART |
|
IG
|
195 |
283 |
4.93e-3 |
SMART |
|
FN3
|
285 |
368 |
3.79e-2 |
SMART |
|
FN3
|
384 |
472 |
2.5e-2 |
SMART |
|
FN3
|
488 |
576 |
3.62e-8 |
SMART |
|
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
677 |
N/A |
INTRINSIC |
|
transmembrane domain
|
747 |
769 |
N/A |
INTRINSIC |
|
PTPc
|
893 |
1146 |
5.95e-102 |
SMART |
|
PTPc
|
1175 |
1441 |
3.67e-93 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105987
AA Change: E1122D
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: E1122D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
MAM
|
22 |
188 |
5.58e-68 |
SMART |
|
IG
|
195 |
283 |
4.93e-3 |
SMART |
|
FN3
|
285 |
368 |
3.79e-2 |
SMART |
|
FN3
|
384 |
472 |
2.5e-2 |
SMART |
|
FN3
|
488 |
576 |
3.62e-8 |
SMART |
|
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
677 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
PTPc
|
883 |
1136 |
5.95e-102 |
SMART |
|
PTPc
|
1165 |
1431 |
3.67e-93 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
98% (59/60) |
| 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. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,229,480 (GRCm39) |
V404D |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 69,036,184 (GRCm39) |
M159T |
possibly damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,598,080 (GRCm39) |
K674R |
probably benign |
Het |
| Atxn7 |
C |
A |
14: 14,095,511 (GRCm38) |
P403H |
probably damaging |
Het |
| Cav3 |
C |
T |
6: 112,449,171 (GRCm39) |
T63I |
probably damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,898 (GRCm39) |
*368Q |
probably null |
Het |
| Cdh8 |
A |
T |
8: 99,757,395 (GRCm39) |
N734K |
probably benign |
Het |
| Ces5a |
G |
T |
8: 94,257,402 (GRCm39) |
N134K |
probably benign |
Het |
| Cisd3 |
T |
G |
11: 97,576,986 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
G |
17: 32,711,280 (GRCm39) |
C476G |
probably damaging |
Het |
| Dffb |
A |
T |
4: 154,054,549 (GRCm39) |
M180K |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,783,313 (GRCm39) |
E749G |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,111,343 (GRCm39) |
F173L |
possibly damaging |
Het |
| Ephb1 |
T |
A |
9: 102,072,108 (GRCm39) |
T224S |
probably benign |
Het |
| Fam114a1 |
A |
T |
5: 65,137,322 (GRCm39) |
E88D |
possibly damaging |
Het |
| Fbn2 |
A |
C |
18: 58,168,993 (GRCm39) |
M2262R |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,816,332 (GRCm39) |
I4022V |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,574,257 (GRCm39) |
V1301A |
probably benign |
Het |
| Gch1 |
A |
T |
14: 47,426,723 (GRCm39) |
M1K |
probably null |
Het |
| Hes1 |
T |
C |
16: 29,886,089 (GRCm39) |
F231S |
probably damaging |
Het |
| Hoxb2 |
A |
G |
11: 96,242,727 (GRCm39) |
T31A |
probably benign |
Het |
| Ifngr1 |
T |
A |
10: 19,483,041 (GRCm39) |
V265D |
probably damaging |
Het |
| Ifnl3 |
A |
T |
7: 28,222,432 (GRCm39) |
I58F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,937,605 (GRCm39) |
T561A |
probably benign |
Het |
| Igfbpl1 |
T |
A |
4: 45,815,494 (GRCm39) |
H214L |
probably damaging |
Het |
| Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,737,901 (GRCm39) |
|
probably benign |
Het |
| Lratd2 |
T |
C |
15: 60,695,563 (GRCm39) |
D61G |
probably benign |
Het |
| Lrrc36 |
G |
T |
8: 106,152,021 (GRCm39) |
|
probably null |
Het |
| Msl2 |
C |
T |
9: 100,979,174 (GRCm39) |
P516L |
possibly damaging |
Het |
| Naaladl1 |
A |
T |
19: 6,156,011 (GRCm39) |
I62F |
probably damaging |
Het |
| Neto2 |
G |
T |
8: 86,397,072 (GRCm39) |
P60Q |
probably damaging |
Het |
| Nipsnap3b |
A |
T |
4: 53,015,136 (GRCm39) |
H61L |
possibly damaging |
Het |
| Npb |
T |
C |
11: 120,499,473 (GRCm39) |
F47L |
probably benign |
Het |
| Nutm1 |
T |
A |
2: 112,078,904 (GRCm39) |
T1004S |
probably benign |
Het |
| Or4a78 |
T |
A |
2: 89,497,895 (GRCm39) |
I112F |
probably benign |
Het |
| Or4z4 |
A |
G |
19: 12,076,754 (GRCm39) |
V83A |
probably benign |
Het |
| Or8c17 |
A |
T |
9: 38,179,842 (GRCm39) |
N3I |
probably damaging |
Het |
| Oxr1 |
C |
A |
15: 41,683,951 (GRCm39) |
A439E |
probably benign |
Het |
| Phf14 |
A |
T |
6: 12,006,854 (GRCm39) |
K835N |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,633,850 (GRCm39) |
V3518E |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,567,206 (GRCm39) |
M1129K |
probably benign |
Het |
| Rgmb |
T |
C |
17: 16,028,048 (GRCm39) |
K224E |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,517,170 (GRCm39) |
I3318V |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,642,045 (GRCm39) |
Y338C |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,576 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,693,514 (GRCm39) |
Y1789* |
probably null |
Het |
| Tgm7 |
T |
C |
2: 120,924,128 (GRCm39) |
E598G |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,657,092 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
A |
G |
5: 108,790,948 (GRCm39) |
N166S |
probably benign |
Het |
| Trp73 |
G |
T |
4: 154,146,510 (GRCm39) |
N368K |
probably benign |
Het |
| Trpc3 |
C |
T |
3: 36,692,739 (GRCm39) |
R751H |
probably damaging |
Het |
| Trpm4 |
C |
A |
7: 44,968,704 (GRCm39) |
A410S |
probably damaging |
Het |
| Ube2t |
T |
G |
1: 134,899,095 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
C |
T |
17: 23,529,137 (GRCm39) |
A322T |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,558,455 (GRCm39) |
R567H |
probably benign |
Het |
| Zfp119b |
T |
C |
17: 56,246,137 (GRCm39) |
K318E |
probably damaging |
Het |
| Zfp626 |
T |
G |
7: 27,518,339 (GRCm39) |
L440R |
probably damaging |
Het |
| Zfp850 |
A |
G |
7: 27,689,939 (GRCm39) |
S90P |
possibly damaging |
Het |
|
| Other mutations in Ptpru |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Ptpru
|
APN |
4 |
131,535,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00966:Ptpru
|
APN |
4 |
131,499,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01451:Ptpru
|
APN |
4 |
131,496,803 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01453:Ptpru
|
APN |
4 |
131,496,803 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01606:Ptpru
|
APN |
4 |
131,535,792 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02451:Ptpru
|
APN |
4 |
131,504,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL03135:Ptpru
|
APN |
4 |
131,546,111 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03366:Ptpru
|
APN |
4 |
131,507,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Ptpru
|
UTSW |
4 |
131,527,023 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4576001:Ptpru
|
UTSW |
4 |
131,529,855 (GRCm39) |
nonsense |
probably null |
|
|
R0299:Ptpru
|
UTSW |
4 |
131,530,698 (GRCm39) |
nonsense |
probably null |
|
|
R0458:Ptpru
|
UTSW |
4 |
131,526,986 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0502:Ptpru
|
UTSW |
4 |
131,520,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0503:Ptpru
|
UTSW |
4 |
131,520,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0619:Ptpru
|
UTSW |
4 |
131,548,198 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0639:Ptpru
|
UTSW |
4 |
131,498,490 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0843:Ptpru
|
UTSW |
4 |
131,525,259 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1065:Ptpru
|
UTSW |
4 |
131,535,651 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1170:Ptpru
|
UTSW |
4 |
131,535,838 (GRCm39) |
splice site |
probably benign |
|
|
R1382:Ptpru
|
UTSW |
4 |
131,535,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1442:Ptpru
|
UTSW |
4 |
131,535,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1538:Ptpru
|
UTSW |
4 |
131,501,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1624:Ptpru
|
UTSW |
4 |
131,499,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Ptpru
|
UTSW |
4 |
131,514,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1699:Ptpru
|
UTSW |
4 |
131,506,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Ptpru
|
UTSW |
4 |
131,520,989 (GRCm39) |
splice site |
probably null |
|
|
R1874:Ptpru
|
UTSW |
4 |
131,497,066 (GRCm39) |
missense |
probably benign |
|
|
R1959:Ptpru
|
UTSW |
4 |
131,530,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Ptpru
|
UTSW |
4 |
131,546,398 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2200:Ptpru
|
UTSW |
4 |
131,548,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Ptpru
|
UTSW |
4 |
131,535,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2304:Ptpru
|
UTSW |
4 |
131,499,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2411:Ptpru
|
UTSW |
4 |
131,498,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2845:Ptpru
|
UTSW |
4 |
131,546,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3767:Ptpru
|
UTSW |
4 |
131,535,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Ptpru
|
UTSW |
4 |
131,535,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Ptpru
|
UTSW |
4 |
131,535,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Ptpru
|
UTSW |
4 |
131,535,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3937:Ptpru
|
UTSW |
4 |
131,501,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4079:Ptpru
|
UTSW |
4 |
131,526,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4110:Ptpru
|
UTSW |
4 |
131,546,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4170:Ptpru
|
UTSW |
4 |
131,503,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Ptpru
|
UTSW |
4 |
131,548,279 (GRCm39) |
missense |
probably benign |
|
|
R4751:Ptpru
|
UTSW |
4 |
131,529,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4766:Ptpru
|
UTSW |
4 |
131,548,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Ptpru
|
UTSW |
4 |
131,526,914 (GRCm39) |
missense |
probably benign |
|
|
R4900:Ptpru
|
UTSW |
4 |
131,515,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4998:Ptpru
|
UTSW |
4 |
131,504,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Ptpru
|
UTSW |
4 |
131,547,334 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5464:Ptpru
|
UTSW |
4 |
131,499,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Ptpru
|
UTSW |
4 |
131,530,691 (GRCm39) |
missense |
probably null |
1.00 |
|
R5667:Ptpru
|
UTSW |
4 |
131,547,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5671:Ptpru
|
UTSW |
4 |
131,547,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5735:Ptpru
|
UTSW |
4 |
131,565,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5802:Ptpru
|
UTSW |
4 |
131,515,688 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5809:Ptpru
|
UTSW |
4 |
131,513,067 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5953:Ptpru
|
UTSW |
4 |
131,504,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Ptpru
|
UTSW |
4 |
131,546,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6029:Ptpru
|
UTSW |
4 |
131,498,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6072:Ptpru
|
UTSW |
4 |
131,503,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6089:Ptpru
|
UTSW |
4 |
131,499,941 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6174:Ptpru
|
UTSW |
4 |
131,513,065 (GRCm39) |
missense |
probably benign |
|
|
R6177:Ptpru
|
UTSW |
4 |
131,520,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6367:Ptpru
|
UTSW |
4 |
131,501,663 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6682:Ptpru
|
UTSW |
4 |
131,548,093 (GRCm39) |
missense |
probably benign |
|
|
R7159:Ptpru
|
UTSW |
4 |
131,546,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Ptpru
|
UTSW |
4 |
131,515,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Ptpru
|
UTSW |
4 |
131,515,820 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8094:Ptpru
|
UTSW |
4 |
131,520,903 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8262:Ptpru
|
UTSW |
4 |
131,522,274 (GRCm39) |
nonsense |
probably null |
|
|
R8276:Ptpru
|
UTSW |
4 |
131,506,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Ptpru
|
UTSW |
4 |
131,535,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Ptpru
|
UTSW |
4 |
131,535,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Ptpru
|
UTSW |
4 |
131,535,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Ptpru
|
UTSW |
4 |
131,526,825 (GRCm39) |
splice site |
probably benign |
|
|
R8911:Ptpru
|
UTSW |
4 |
131,503,560 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8934:Ptpru
|
UTSW |
4 |
131,546,297 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9031:Ptpru
|
UTSW |
4 |
131,515,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Ptpru
|
UTSW |
4 |
131,503,565 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9096:Ptpru
|
UTSW |
4 |
131,499,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Ptpru
|
UTSW |
4 |
131,499,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Ptpru
|
UTSW |
4 |
131,522,278 (GRCm39) |
missense |
probably benign |
|
|
R9166:Ptpru
|
UTSW |
4 |
131,525,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9174:Ptpru
|
UTSW |
4 |
131,535,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Ptpru
|
UTSW |
4 |
131,530,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9698:Ptpru
|
UTSW |
4 |
131,547,531 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0024:Ptpru
|
UTSW |
4 |
131,498,501 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Ptpru
|
UTSW |
4 |
131,535,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ptpru
|
UTSW |
4 |
131,527,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATATATGCTCACAGCCCACTC -3'
(R):5'- AGGGTTTGGGTCCTCACTAG -3'
Sequencing Primer
(F):5'- TATATGCTCACAGCCCACTCATATAC -3'
(R):5'- TCACTAGACCTGGGACCTTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation