Incidental Mutation 'R6969:Ptprm'
| ID |
543415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
045079-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6969 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67219413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 726
(I726T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
|
| AlphaFold |
P28828 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037974
AA Change: I726T
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: I726T
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224091
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,958,317 (GRCm39) |
L800H |
unknown |
Het |
| Ap2b1 |
T |
A |
11: 83,280,552 (GRCm39) |
D788E |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arhgap9 |
G |
A |
10: 127,162,512 (GRCm39) |
E348K |
probably benign |
Het |
| B4galnt2 |
A |
T |
11: 95,782,756 (GRCm39) |
F19I |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,211,039 (GRCm39) |
I551N |
probably damaging |
Het |
| Ceacam16 |
A |
G |
7: 19,586,230 (GRCm39) |
*427Q |
probably null |
Het |
| Chd9 |
A |
C |
8: 91,705,542 (GRCm39) |
Q260P |
probably benign |
Het |
| Col16a1 |
A |
T |
4: 129,986,880 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 17,266,805 (GRCm39) |
N40K |
possibly damaging |
Het |
| Depdc5 |
T |
G |
5: 33,141,204 (GRCm39) |
V1368G |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,397,398 (GRCm39) |
P3943Q |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,076,141 (GRCm39) |
Q691R |
probably damaging |
Het |
| Dusp10 |
T |
C |
1: 183,801,085 (GRCm39) |
L284P |
probably damaging |
Het |
| Efr3b |
A |
G |
12: 4,018,624 (GRCm39) |
V574A |
probably benign |
Het |
| Erc2 |
A |
T |
14: 27,620,553 (GRCm39) |
I60F |
probably damaging |
Het |
| Exoc2 |
A |
G |
13: 31,095,161 (GRCm39) |
V245A |
probably benign |
Het |
| Fasl |
G |
T |
1: 161,609,244 (GRCm39) |
F37L |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,941,212 (GRCm39) |
P1360S |
probably benign |
Het |
| Gpsm1 |
C |
T |
2: 26,230,555 (GRCm39) |
P502S |
probably benign |
Het |
| Gtpbp10 |
C |
A |
5: 5,605,331 (GRCm39) |
G124V |
probably damaging |
Het |
| Insm2 |
T |
C |
12: 55,646,963 (GRCm39) |
C236R |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,929,468 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Irx6 |
A |
G |
8: 93,403,958 (GRCm39) |
E175G |
probably damaging |
Het |
| Kcnh8 |
C |
T |
17: 53,184,971 (GRCm39) |
R418* |
probably null |
Het |
| Kif3c |
G |
A |
12: 3,416,114 (GRCm39) |
R45Q |
probably benign |
Het |
| Larp7-ps |
A |
G |
4: 92,079,826 (GRCm39) |
I54T |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,630,862 (GRCm39) |
F12S |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,526,897 (GRCm39) |
T156S |
probably benign |
Het |
| Lrrc19 |
G |
T |
4: 94,527,610 (GRCm39) |
N200K |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,862,550 (GRCm39) |
H1296Y |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,212,578 (GRCm39) |
F661Y |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,351,593 (GRCm39) |
Y1893C |
probably benign |
Het |
| Mmd |
G |
C |
11: 90,148,362 (GRCm39) |
A15P |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,088,092 (GRCm39) |
F1903L |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,528,371 (GRCm39) |
L1072P |
probably damaging |
Het |
| Or13l2 |
A |
T |
3: 97,318,118 (GRCm39) |
Y126* |
probably null |
Het |
| Or56a41 |
T |
C |
7: 104,740,463 (GRCm39) |
I128V |
probably benign |
Het |
| Or5bw2 |
G |
A |
7: 6,573,320 (GRCm39) |
C110Y |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,495,886 (GRCm39) |
T18S |
possibly damaging |
Het |
| Patl2 |
A |
T |
2: 121,959,410 (GRCm39) |
V18D |
possibly damaging |
Het |
| Pkn1 |
T |
C |
8: 84,410,055 (GRCm39) |
S395G |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 184,968,209 (GRCm39) |
L187P |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,563,182 (GRCm39) |
E535V |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,827,657 (GRCm39) |
K598R |
probably benign |
Het |
| Rnf40 |
A |
G |
7: 127,195,495 (GRCm39) |
E607G |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,452,616 (GRCm39) |
T544A |
probably benign |
Het |
| Scaf1 |
C |
A |
7: 44,657,253 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,591,643 (GRCm39) |
M1018V |
probably benign |
Het |
| Shmt1 |
C |
T |
11: 60,695,153 (GRCm39) |
A54T |
probably damaging |
Het |
| Slc39a14 |
C |
A |
14: 70,546,275 (GRCm39) |
V383F |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,871,249 (GRCm39) |
T346A |
probably benign |
Het |
| Slco4a1 |
G |
A |
2: 180,106,601 (GRCm39) |
S261N |
probably benign |
Het |
| Smarcc1 |
C |
G |
9: 110,025,388 (GRCm39) |
S688R |
probably damaging |
Het |
| Sppl2b |
G |
A |
10: 80,700,959 (GRCm39) |
A314T |
probably damaging |
Het |
| Sptb |
A |
T |
12: 76,654,781 (GRCm39) |
V1513E |
probably damaging |
Het |
| Stx17 |
A |
T |
4: 48,140,462 (GRCm39) |
I56F |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,968,171 (GRCm39) |
Y424C |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,883,949 (GRCm39) |
K536E |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,644,329 (GRCm39) |
I309V |
possibly damaging |
Het |
| Tymp |
G |
A |
15: 89,258,251 (GRCm39) |
S334L |
probably benign |
Het |
| Unc13b |
T |
C |
4: 43,263,538 (GRCm39) |
F1587L |
possibly damaging |
Het |
| Vgf |
G |
T |
5: 137,060,507 (GRCm39) |
|
probably benign |
Het |
| Zfp59 |
T |
C |
7: 27,552,922 (GRCm39) |
S125P |
probably damaging |
Het |
| Zfp641 |
A |
T |
15: 98,188,448 (GRCm39) |
M144K |
possibly damaging |
Het |
| Zfp93 |
A |
T |
7: 23,974,806 (GRCm39) |
K264* |
probably null |
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 |
|
|
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'- GGTCTAGAACATTCTAAACAGGCC -3'
(R):5'- GTTAGAAATCTGACCGCGCG -3'
Sequencing Primer
(F):5'- ATTCTAAACAGGCCTTAAGCAAG -3'
(R):5'- AGATGAAAACCTTGCTGTGTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation