Incidental Mutation 'R4559:Ptprm'
| ID |
343008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
041785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66990403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 1412
(Y1412N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
|
| AlphaFold |
P28828 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037974
AA Change: Y1412N
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: Y1412N
| 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 benign
Transcript: ENSMUST00000223982
AA Change: Y1378N
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225074
|
| Meta Mutation Damage Score |
0.1017 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
| 1700066M21Rik |
T |
C |
1: 57,422,083 (GRCm39) |
F153S |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,480,405 (GRCm39) |
V222A |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,322,321 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 68,004,584 (GRCm39) |
C2312S |
probably damaging |
Het |
| Cidea |
C |
T |
18: 67,493,298 (GRCm39) |
Q106* |
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,054,892 (GRCm39) |
T159A |
probably damaging |
Het |
| Cyp2j12 |
G |
T |
4: 96,001,194 (GRCm39) |
S304R |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,124,785 (GRCm39) |
F665L |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,603,978 (GRCm39) |
V815E |
probably damaging |
Het |
| Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,510,213 (GRCm39) |
M737T |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,193,634 (GRCm39) |
D1395V |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,209,146 (GRCm39) |
M1076I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,593 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,929,148 (GRCm39) |
R3851G |
probably damaging |
Het |
| Frem2 |
C |
T |
3: 53,561,742 (GRCm39) |
V922I |
probably benign |
Het |
| Gm10719 |
A |
T |
9: 3,018,945 (GRCm39) |
T200S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,844,555 (GRCm39) |
D176G |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,089,928 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,309,741 (GRCm39) |
H1090Q |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,625,032 (GRCm39) |
T104A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,502,460 (GRCm39) |
D93G |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,612,090 (GRCm39) |
K176R |
probably benign |
Het |
| Jph1 |
A |
T |
1: 17,074,735 (GRCm39) |
C428S |
probably benign |
Het |
| Kif13b |
G |
T |
14: 65,043,581 (GRCm39) |
G1794W |
probably damaging |
Het |
| Map10 |
A |
G |
8: 126,398,553 (GRCm39) |
T649A |
probably benign |
Het |
| Med12l |
T |
C |
3: 58,914,523 (GRCm39) |
|
probably null |
Het |
| Nat8f1 |
A |
G |
6: 85,887,567 (GRCm39) |
I131T |
probably benign |
Het |
| Oas1d |
C |
A |
5: 121,054,958 (GRCm39) |
Q177K |
probably benign |
Het |
| Or4a74 |
C |
A |
2: 89,440,043 (GRCm39) |
M134I |
probably damaging |
Het |
| Or51q1 |
G |
A |
7: 103,628,767 (GRCm39) |
D123N |
probably damaging |
Het |
| P2ry2 |
A |
G |
7: 100,647,363 (GRCm39) |
V314A |
possibly damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
| Pfkl |
G |
T |
10: 77,824,717 (GRCm39) |
R691S |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,490,175 (GRCm39) |
I1005N |
probably damaging |
Het |
| Prkacb |
A |
G |
3: 146,451,147 (GRCm39) |
|
probably benign |
Het |
| Rab22a |
A |
G |
2: 173,503,226 (GRCm39) |
D13G |
probably damaging |
Het |
| Rab29 |
G |
A |
1: 131,800,305 (GRCm39) |
W201* |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,554,338 (GRCm39) |
E313G |
probably benign |
Het |
| Sf1 |
GGCAGCAGCAGCAGCAGCAGC |
GGCAGCAGCAGCAGCAGC |
19: 6,424,845 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,031,678 (GRCm39) |
L468Q |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,062,695 (GRCm39) |
K254* |
probably null |
Het |
| Slc6a12 |
G |
A |
6: 121,340,820 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,895,570 (GRCm39) |
L412P |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,583 (GRCm39) |
S469P |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,664 (GRCm39) |
E272G |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,509,563 (GRCm39) |
G896W |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,749,890 (GRCm39) |
H3720Y |
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 |
|
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'- GATGAGGCATTGCACCACTG -3'
(R):5'- GTAAGTCAGGCCTCTTCCTC -3'
Sequencing Primer
(F):5'- CATTGCACCACTGGGGAAG -3'
(R):5'- CCACTCCCTGATTGGTCCCTTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation