Incidental Mutation 'R8907:Ptprm'
| ID |
678476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
068763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67051732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1001
(H1001L)
|
| 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: H1001L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: H1001L
| 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: H967L
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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 |
|---|
| 5930422O12Rik |
A |
G |
8: 33,919,398 (GRCm39) |
I73V |
probably damaging |
Het |
| Agap3 |
T |
C |
5: 24,679,629 (GRCm39) |
I109T |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,986,452 (GRCm39) |
V2579M |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,260,444 (GRCm39) |
S220P |
probably benign |
Het |
| Akap13 |
C |
G |
7: 75,260,456 (GRCm39) |
P224A |
probably damaging |
Het |
| Alpk1 |
G |
A |
3: 127,474,642 (GRCm39) |
Q454* |
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,090,506 (GRCm39) |
G280D |
probably damaging |
Het |
| Atp6v0d1 |
TTCTTACCTC |
T |
8: 106,251,782 (GRCm39) |
|
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,099,425 (GRCm39) |
D204V |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,628,100 (GRCm39) |
Y177H |
probably damaging |
Het |
| Bcl2l14 |
G |
A |
6: 134,400,585 (GRCm39) |
C2Y |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,002,295 (GRCm39) |
Y1413* |
probably null |
Het |
| Bphl |
A |
T |
13: 34,230,930 (GRCm39) |
M125L |
possibly damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,521 (GRCm39) |
N707I |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,171,444 (GRCm39) |
D340V |
possibly damaging |
Het |
| Cklf |
G |
A |
8: 104,977,671 (GRCm39) |
V8I |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,310,711 (GRCm39) |
N126S |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,456,106 (GRCm39) |
M327K |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,644,528 (GRCm39) |
F1253L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,685,395 (GRCm39) |
S1169N |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,790,967 (GRCm39) |
D72V |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,905,873 (GRCm39) |
P840L |
probably damaging |
Het |
| Eea1 |
T |
C |
10: 95,826,274 (GRCm39) |
Y105H |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,483,422 (GRCm39) |
S196A |
probably damaging |
Het |
| Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
| Fcamr |
G |
T |
1: 130,740,328 (GRCm39) |
G249V |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,681,451 (GRCm39) |
T124I |
probably damaging |
Het |
| Fmn1 |
T |
G |
2: 113,355,914 (GRCm39) |
L883R |
unknown |
Het |
| Frmd4b |
T |
C |
6: 97,273,046 (GRCm39) |
N782S |
probably damaging |
Het |
| Frmpd2 |
T |
G |
14: 33,248,380 (GRCm39) |
C621W |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,984 (GRCm39) |
V4239D |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,844 (GRCm39) |
Y380C |
probably damaging |
Het |
| Gm7298 |
T |
C |
6: 121,741,817 (GRCm39) |
V413A |
probably benign |
Het |
| Gstp3 |
C |
T |
19: 4,108,145 (GRCm39) |
V93M |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,874,920 (GRCm39) |
M1858K |
possibly damaging |
Het |
| Ighv1-7 |
T |
A |
12: 114,502,353 (GRCm39) |
K38M |
probably damaging |
Het |
| Klri1 |
T |
C |
6: 129,680,283 (GRCm39) |
K124R |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,514,609 (GRCm39) |
F3078Y |
probably damaging |
Het |
| Map4k4 |
C |
T |
1: 40,058,770 (GRCm39) |
P988L |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,953,077 (GRCm39) |
E453K |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,417,434 (GRCm39) |
I3461N |
|
Het |
| Ngef |
G |
A |
1: 87,405,376 (GRCm39) |
S678F |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,178,157 (GRCm39) |
S418T |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,421,995 (GRCm39) |
D257G |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,542 (GRCm39) |
V76D |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
| Pcf11 |
T |
C |
7: 92,302,451 (GRCm39) |
T1220A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,785 (GRCm39) |
I3508V |
possibly damaging |
Het |
| Ppargc1a |
A |
T |
5: 51,647,570 (GRCm39) |
S258T |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,159,135 (GRCm39) |
Y830H |
probably damaging |
Het |
| Rab8b |
A |
G |
9: 66,826,807 (GRCm39) |
F37L |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,070,278 (GRCm39) |
I1148F |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,621 (GRCm39) |
K162E |
unknown |
Het |
| Serpinb13 |
A |
T |
1: 106,928,519 (GRCm39) |
I380F |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,634,186 (GRCm39) |
D2175G |
probably benign |
Het |
| St3gal6 |
T |
C |
16: 58,314,095 (GRCm39) |
I13V |
probably benign |
Het |
| Tfpi2 |
A |
T |
6: 3,967,996 (GRCm39) |
L48H |
probably damaging |
Het |
| Tmem121b |
T |
A |
6: 120,469,707 (GRCm39) |
I337F |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,275,182 (GRCm39) |
D225G |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,959,664 (GRCm39) |
V674A |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,963,563 (GRCm39) |
L553P |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,755,798 (GRCm39) |
V189A |
probably damaging |
Het |
| Vmn1r19 |
G |
T |
6: 57,381,991 (GRCm39) |
M181I |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 109,149,791 (GRCm39) |
T418A |
probably benign |
Het |
| Zfp617 |
A |
G |
8: 72,686,927 (GRCm39) |
Y419C |
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 |
|
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 |
|
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'- CCTTCTGCTGGGAAAACAAGG -3'
(R):5'- GACCATCCCTGGATAGCATG -3'
Sequencing Primer
(F):5'- ACAAGGGTGCAGGTGCC -3'
(R):5'- TCAGCTCATGAAAGGTGTCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation