Incidental Mutation 'R9610:Ptprm'
| ID |
724187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9610 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 67000483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Methionine
at position 1167
(R1167M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
|
| AlphaFold |
P28828 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037974
AA Change: R1167M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: R1167M
| 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: R1133M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
T |
18: 59,023,399 (GRCm39) |
T265S |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,257,890 (GRCm39) |
I1311M |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,743 (GRCm39) |
Y750N |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,745 (GRCm39) |
Y750* |
probably null |
Het |
| Btbd16 |
T |
A |
7: 130,407,595 (GRCm39) |
M295K |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,427,316 (GRCm39) |
L1007P |
possibly damaging |
Het |
| Cnep1r1 |
A |
G |
8: 88,860,457 (GRCm39) |
*126W |
probably null |
Het |
| Cstf1 |
T |
A |
2: 172,214,984 (GRCm39) |
I35N |
probably benign |
Het |
| Cstpp1 |
T |
C |
2: 91,135,127 (GRCm39) |
D111G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,830,823 (GRCm39) |
L1690P |
possibly damaging |
Het |
| Dnm2 |
A |
T |
9: 21,414,973 (GRCm39) |
K677* |
probably null |
Het |
| Dscaml1 |
C |
A |
9: 45,579,522 (GRCm39) |
N356K |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,346,008 (GRCm39) |
D446G |
probably damaging |
Het |
| Ecm2 |
A |
G |
13: 49,668,518 (GRCm39) |
N74D |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,681,216 (GRCm39) |
I450M |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,091,035 (GRCm39) |
D460E |
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,824,258 (GRCm39) |
Y493C |
probably benign |
Het |
| Fuom |
T |
A |
7: 139,679,828 (GRCm39) |
E121V |
possibly damaging |
Het |
| Fyco1 |
T |
C |
9: 123,657,585 (GRCm39) |
T864A |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
| Gcsh |
T |
A |
8: 117,720,125 (GRCm39) |
Y14F |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,194,605 (GRCm39) |
I937M |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,600 (GRCm39) |
I370M |
possibly damaging |
Het |
| Hypk |
T |
C |
2: 121,288,154 (GRCm39) |
S72P |
probably damaging |
Het |
| Izumo1r |
T |
G |
9: 14,811,840 (GRCm39) |
I183L |
possibly damaging |
Het |
| Kctd13 |
G |
T |
7: 126,544,180 (GRCm39) |
G293C |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,012,318 (GRCm39) |
S2G |
probably benign |
Het |
| Mark4 |
C |
A |
7: 19,167,338 (GRCm39) |
R467L |
possibly damaging |
Het |
| Mrps33 |
T |
A |
6: 39,779,422 (GRCm39) |
K91M |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,350,078 (GRCm39) |
V608D |
possibly damaging |
Het |
| Myb |
G |
A |
10: 21,030,627 (GRCm39) |
Q57* |
probably null |
Het |
| Or51f1 |
T |
G |
7: 102,506,147 (GRCm39) |
H114P |
probably damaging |
Het |
| Peg10 |
GCAC |
GCACCAC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
G |
A |
7: 24,328,372 (GRCm39) |
V639M |
probably damaging |
Het |
| Pip4k2c |
A |
C |
10: 127,036,069 (GRCm39) |
L266R |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,609,213 (GRCm39) |
Y173H |
probably benign |
Het |
| Pmp22 |
G |
T |
11: 63,024,065 (GRCm39) |
V25F |
probably benign |
Het |
| Ppp1r16b |
T |
A |
2: 158,537,998 (GRCm39) |
Y40N |
probably damaging |
Het |
| Prl5a1 |
A |
G |
13: 28,329,492 (GRCm39) |
E57G |
possibly damaging |
Het |
| Psmb10 |
A |
G |
8: 106,664,144 (GRCm39) |
F75S |
probably benign |
Het |
| Rbm46 |
T |
C |
3: 82,771,541 (GRCm39) |
H358R |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,397,115 (GRCm39) |
S684P |
probably benign |
Het |
| Rmnd5b |
T |
C |
11: 51,517,869 (GRCm39) |
I162V |
probably damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,529 (GRCm39) |
V440A |
possibly damaging |
Het |
| Sik1 |
T |
A |
17: 32,073,246 (GRCm39) |
K70M |
probably damaging |
Het |
| Slc44a4 |
C |
T |
17: 35,147,793 (GRCm39) |
S611F |
probably benign |
Het |
| Stk32a |
A |
G |
18: 43,430,620 (GRCm39) |
I177V |
probably benign |
Het |
| Syt7 |
G |
A |
19: 10,421,459 (GRCm39) |
D548N |
probably benign |
Het |
| Tcf7l2 |
A |
G |
19: 55,899,038 (GRCm39) |
D215G |
probably null |
Het |
| Tex14 |
T |
A |
11: 87,377,084 (GRCm39) |
F143I |
probably damaging |
Het |
| Tjp3 |
A |
G |
10: 81,119,411 (GRCm39) |
V26A |
possibly damaging |
Het |
| Tpx2 |
T |
A |
2: 152,715,124 (GRCm39) |
V115D |
probably benign |
Het |
| Tubb2b |
C |
A |
13: 34,311,742 (GRCm39) |
K350N |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,036,936 (GRCm39) |
V472A |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,642,555 (GRCm39) |
G1389V |
possibly damaging |
Het |
| Vps39 |
T |
C |
2: 120,172,485 (GRCm39) |
R183G |
probably damaging |
Het |
| Wnk4 |
G |
T |
11: 101,159,250 (GRCm39) |
E556* |
probably null |
Het |
| Xpo7 |
T |
A |
14: 70,925,617 (GRCm39) |
E474V |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,275,341 (GRCm39) |
R234G |
probably null |
Het |
| Zc3h14 |
T |
A |
12: 98,737,663 (GRCm39) |
I50N |
possibly damaging |
Het |
| Zfat |
A |
G |
15: 68,051,655 (GRCm39) |
V713A |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,009,545 (GRCm39) |
S504P |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,651,022 (GRCm39) |
V502A |
probably benign |
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 |
|
R1726:Ptprm
|
UTSW |
17 |
67,349,322 (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 |
|
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'- AACTCTTGGCACCAGAATCTG -3'
(R):5'- AGGACGCTAGAAGCCTTGTG -3'
Sequencing Primer
(F):5'- CTTGGCACCAGAATCTGTAACTTG -3'
(R):5'- GGCAGCCCTTCCCCTTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation