Incidental Mutation 'R1726:Ptprm'
| ID |
198182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
039758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67349322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 40
(I40M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
[ENSMUST00000224862]
|
| AlphaFold |
P28828 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037974
AA Change: I300M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: I300M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
MAM
|
22 |
184 |
2.81e-73 |
SMART |
|
IG
|
191 |
279 |
2.1e-6 |
SMART |
|
FN3
|
281 |
364 |
6.35e-4 |
SMART |
|
FN3
|
380 |
468 |
2.81e-5 |
SMART |
|
FN3
|
482 |
572 |
3.7e-5 |
SMART |
|
transmembrane domain
|
743 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
774 |
N/A |
INTRINSIC |
|
PTPc
|
899 |
1156 |
5.26e-135 |
SMART |
|
PTPc
|
1185 |
1450 |
9.46e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223982
AA Change: I300M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224091
AA Change: I300M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224862
AA Change: I40M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.2351 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
97% (63/65) |
| 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 catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
C |
12: 118,838,536 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,871,267 (GRCm39) |
S711T |
possibly damaging |
Het |
| Acoxl |
G |
A |
2: 127,722,366 (GRCm39) |
G216R |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,504,228 (GRCm39) |
N949I |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,105,225 (GRCm39) |
|
probably null |
Het |
| Brip1 |
A |
T |
11: 85,955,740 (GRCm39) |
S924R |
probably benign |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc141 |
A |
G |
2: 76,938,700 (GRCm39) |
|
probably benign |
Het |
| Ccdc80 |
A |
T |
16: 44,916,368 (GRCm39) |
T375S |
probably benign |
Het |
| Ccl11 |
A |
G |
11: 81,952,546 (GRCm39) |
K40E |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,509 (GRCm39) |
C269S |
probably damaging |
Het |
| Dgat2 |
A |
G |
7: 98,831,623 (GRCm39) |
S33P |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,625,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,388,715 (GRCm39) |
D889E |
probably damaging |
Het |
| Dvl2 |
A |
T |
11: 69,900,287 (GRCm39) |
T694S |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,184 (GRCm39) |
I561T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,036,280 (GRCm39) |
V1100A |
probably benign |
Het |
| Galt |
G |
A |
4: 41,756,001 (GRCm39) |
W22* |
probably null |
Het |
| Garem1 |
C |
A |
18: 21,281,319 (GRCm39) |
V346L |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm10762 |
A |
T |
2: 128,809,135 (GRCm39) |
|
probably benign |
Het |
| Gm21900 |
A |
G |
Y: 10,616,358 (GRCm39) |
|
probably null |
Het |
| Gm2663 |
T |
C |
6: 40,974,960 (GRCm39) |
Y37C |
probably damaging |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
C |
A |
10: 75,828,361 (GRCm39) |
P314T |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
| H2-T24 |
T |
A |
17: 36,326,513 (GRCm39) |
M129L |
probably benign |
Het |
| Ikzf2 |
C |
A |
1: 69,587,847 (GRCm39) |
R214L |
probably damaging |
Het |
| Insyn2a |
T |
C |
7: 134,500,867 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,664 (GRCm39) |
L1691Q |
probably damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,707,113 (GRCm39) |
L650P |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,413,977 (GRCm39) |
P368S |
possibly damaging |
Het |
| Mob3b |
A |
G |
4: 34,954,028 (GRCm39) |
M214T |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,371,686 (GRCm39) |
V71A |
probably benign |
Het |
| Mrpl57 |
A |
G |
14: 58,064,092 (GRCm39) |
E40G |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,774,547 (GRCm39) |
V162A |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,545,816 (GRCm39) |
V1065E |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,676,554 (GRCm39) |
D42G |
probably damaging |
Het |
| Npepps |
A |
G |
11: 97,115,495 (GRCm39) |
L623P |
probably damaging |
Het |
| Olig3 |
A |
G |
10: 19,232,482 (GRCm39) |
S36G |
probably benign |
Het |
| Or10j5 |
A |
G |
1: 172,784,658 (GRCm39) |
T99A |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,636 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
T |
C |
7: 108,354,215 (GRCm39) |
S51P |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,647 (GRCm39) |
Y584* |
probably null |
Het |
| Pcyox1l |
T |
C |
18: 61,830,849 (GRCm39) |
Y341C |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,656,164 (GRCm39) |
|
probably null |
Het |
| Pias4 |
A |
C |
10: 80,991,689 (GRCm39) |
V313G |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,783,150 (GRCm39) |
T81M |
probably damaging |
Het |
| Reep6 |
T |
C |
10: 80,170,954 (GRCm39) |
S277P |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,442,189 (GRCm39) |
E1694G |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,613,996 (GRCm39) |
Y274C |
probably benign |
Het |
| Slc12a6 |
T |
A |
2: 112,177,771 (GRCm39) |
I630N |
probably damaging |
Het |
| Slc14a1 |
T |
A |
18: 78,159,681 (GRCm39) |
N15Y |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,089,574 (GRCm39) |
Y114* |
probably null |
Het |
| Slc26a1 |
C |
T |
5: 108,821,541 (GRCm39) |
G116D |
probably damaging |
Het |
| Smg8 |
G |
T |
11: 86,971,439 (GRCm39) |
Y777* |
probably null |
Het |
| Tlr11 |
A |
T |
14: 50,598,998 (GRCm39) |
H328L |
probably benign |
Het |
| Ube2c |
G |
T |
2: 164,613,237 (GRCm39) |
A52S |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,523,864 (GRCm39) |
S806G |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,839 (GRCm39) |
I153K |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,089,046 (GRCm39) |
E408D |
probably damaging |
Het |
|
| Other mutations in Ptprm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Ptprm
|
APN |
17 |
67,124,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01128:Ptprm
|
APN |
17 |
67,349,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01509:Ptprm
|
APN |
17 |
67,069,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01785:Ptprm
|
APN |
17 |
66,992,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01912:Ptprm
|
APN |
17 |
67,353,113 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01929:Ptprm
|
APN |
17 |
66,997,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01937:Ptprm
|
APN |
17 |
67,353,158 (GRCm39) |
splice site |
probably benign |
|
|
IGL01939:Ptprm
|
APN |
17 |
67,370,158 (GRCm39) |
splice site |
probably benign |
|
|
IGL02053:Ptprm
|
APN |
17 |
67,000,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02203:Ptprm
|
APN |
17 |
67,260,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02468:Ptprm
|
APN |
17 |
67,121,504 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02500:Ptprm
|
APN |
17 |
67,227,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02542:Ptprm
|
APN |
17 |
67,227,145 (GRCm39) |
missense |
probably benign |
|
|
Becalming
|
UTSW |
17 |
67,251,327 (GRCm39) |
splice site |
probably null |
|
|
Pacifying
|
UTSW |
17 |
66,990,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0674:Ptprm
|
UTSW |
17 |
67,498,336 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0709:Ptprm
|
UTSW |
17 |
67,251,327 (GRCm39) |
splice site |
probably null |
|
|
R1054:Ptprm
|
UTSW |
17 |
67,349,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Ptprm
|
UTSW |
17 |
67,000,866 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1561:Ptprm
|
UTSW |
17 |
67,247,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Ptprm
|
UTSW |
17 |
66,996,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Ptprm
|
UTSW |
17 |
66,995,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1952:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1953:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1993:Ptprm
|
UTSW |
17 |
67,054,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Ptprm
|
UTSW |
17 |
67,264,148 (GRCm39) |
splice site |
probably null |
|
|
R2266:Ptprm
|
UTSW |
17 |
67,032,846 (GRCm39) |
splice site |
probably null |
|
|
R2417:Ptprm
|
UTSW |
17 |
67,251,321 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2511:Ptprm
|
UTSW |
17 |
67,000,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3726:Ptprm
|
UTSW |
17 |
67,263,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3824:Ptprm
|
UTSW |
17 |
67,116,570 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4057:Ptprm
|
UTSW |
17 |
67,382,658 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4113:Ptprm
|
UTSW |
17 |
67,032,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Ptprm
|
UTSW |
17 |
66,990,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4598:Ptprm
|
UTSW |
17 |
67,402,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4742:Ptprm
|
UTSW |
17 |
67,051,746 (GRCm39) |
nonsense |
probably null |
|
|
R4974:Ptprm
|
UTSW |
17 |
66,985,062 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5157:Ptprm
|
UTSW |
17 |
67,264,092 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5433:Ptprm
|
UTSW |
17 |
67,000,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5509:Ptprm
|
UTSW |
17 |
66,996,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Ptprm
|
UTSW |
17 |
67,227,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Ptprm
|
UTSW |
17 |
66,996,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5867:Ptprm
|
UTSW |
17 |
67,352,976 (GRCm39) |
splice site |
probably null |
|
|
R6044:Ptprm
|
UTSW |
17 |
67,000,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Ptprm
|
UTSW |
17 |
66,995,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6615:Ptprm
|
UTSW |
17 |
67,660,951 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6969:Ptprm
|
UTSW |
17 |
67,219,413 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7135:Ptprm
|
UTSW |
17 |
67,251,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7161:Ptprm
|
UTSW |
17 |
67,116,622 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7410:Ptprm
|
UTSW |
17 |
67,000,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7476:Ptprm
|
UTSW |
17 |
67,032,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7789:Ptprm
|
UTSW |
17 |
67,402,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Ptprm
|
UTSW |
17 |
67,251,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8089:Ptprm
|
UTSW |
17 |
66,990,483 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8442:Ptprm
|
UTSW |
17 |
67,251,312 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8476:Ptprm
|
UTSW |
17 |
67,251,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Ptprm
|
UTSW |
17 |
67,116,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8907:Ptprm
|
UTSW |
17 |
67,051,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8930:Ptprm
|
UTSW |
17 |
67,263,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8932:Ptprm
|
UTSW |
17 |
67,263,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9009:Ptprm
|
UTSW |
17 |
66,996,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9084:Ptprm
|
UTSW |
17 |
67,263,948 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9338:Ptprm
|
UTSW |
17 |
67,069,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Ptprm
|
UTSW |
17 |
67,116,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Ptprm
|
UTSW |
17 |
67,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Ptprm
|
UTSW |
17 |
67,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Ptprm
|
UTSW |
17 |
67,116,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Ptprm
|
UTSW |
17 |
67,498,291 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9694:Ptprm
|
UTSW |
17 |
67,116,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9736:Ptprm
|
UTSW |
17 |
66,997,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCTGGTCTGGTAAGAAGCACAC -3'
(R):5'- TCCTGCCTGTTTCCTAAGGAGCTG -3'
Sequencing Primer
(F):5'- TCTGGTAAGAAGCACACTGATCTC -3'
(R):5'- aattgagtaccagaaatcaaaccc -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation