Incidental Mutation 'R1744:Ptprm'
ID |
200608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprm
|
Ensembl Gene |
ENSMUSG00000033278 |
Gene Name |
protein tyrosine phosphatase receptor type M |
Synonyms |
RPTPmu |
MMRRC Submission |
039776-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1744 (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 66996361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1242
(Y1242C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
|
AlphaFold |
P28828 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037974
AA Change: Y1276C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045603 Gene: ENSMUSG00000033278 AA Change: Y1276C
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: Y1242C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225074
|
Meta Mutation Damage Score |
0.9618 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
Validation Efficiency |
98% (59/60) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
A |
G |
5: 81,942,267 (GRCm39) |
E1247G |
probably damaging |
Het |
Bcl2l15 |
T |
A |
3: 103,745,856 (GRCm39) |
L165Q |
probably damaging |
Het |
Cd163 |
C |
A |
6: 124,283,987 (GRCm39) |
A53E |
possibly damaging |
Het |
Cemip2 |
C |
A |
19: 21,809,501 (GRCm39) |
Y960* |
probably null |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,452,596 (GRCm39) |
A629D |
probably damaging |
Het |
Csde1 |
T |
A |
3: 102,957,631 (GRCm39) |
S463R |
probably benign |
Het |
Cth |
C |
G |
3: 157,611,905 (GRCm39) |
R304P |
probably damaging |
Het |
D7Ertd443e |
A |
G |
7: 133,951,142 (GRCm39) |
V177A |
probably benign |
Het |
Ddx56 |
G |
A |
11: 6,216,396 (GRCm39) |
R189W |
probably damaging |
Het |
Dennd2a |
A |
T |
6: 39,457,185 (GRCm39) |
F752L |
probably benign |
Het |
Gabrp |
A |
T |
11: 33,522,462 (GRCm39) |
V28E |
probably benign |
Het |
Gpam |
T |
C |
19: 55,063,023 (GRCm39) |
E763G |
probably damaging |
Het |
Hars1 |
G |
A |
18: 36,903,885 (GRCm39) |
R266C |
probably benign |
Het |
Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,762,928 (GRCm39) |
K281E |
probably damaging |
Het |
Lbx1 |
T |
C |
19: 45,222,652 (GRCm39) |
K124E |
probably damaging |
Het |
Lcp2 |
T |
C |
11: 34,019,911 (GRCm39) |
|
probably null |
Het |
Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,369,646 (GRCm39) |
I140K |
probably damaging |
Het |
Mcemp1 |
G |
A |
8: 3,716,054 (GRCm39) |
A20T |
probably damaging |
Het |
Met |
T |
C |
6: 17,540,645 (GRCm39) |
V137A |
possibly damaging |
Het |
Mgat5 |
T |
C |
1: 127,407,206 (GRCm39) |
F624S |
probably damaging |
Het |
Nutm2 |
T |
C |
13: 50,623,390 (GRCm39) |
I29T |
probably benign |
Het |
Ociad1 |
T |
C |
5: 73,458,062 (GRCm39) |
|
probably null |
Het |
Ogfod2 |
G |
A |
5: 124,252,219 (GRCm39) |
|
probably null |
Het |
Or6c69 |
A |
C |
10: 129,747,262 (GRCm39) |
V295G |
probably damaging |
Het |
Or8g4 |
A |
C |
9: 39,661,711 (GRCm39) |
T10P |
probably benign |
Het |
Otoa |
G |
A |
7: 120,726,999 (GRCm39) |
|
probably benign |
Het |
Otud3 |
A |
C |
4: 138,623,059 (GRCm39) |
L394R |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,541,546 (GRCm39) |
V12A |
probably damaging |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Prr27 |
A |
G |
5: 87,990,906 (GRCm39) |
I173V |
possibly damaging |
Het |
Psg29 |
T |
C |
7: 16,944,278 (GRCm39) |
C263R |
probably damaging |
Het |
Retsat |
C |
T |
6: 72,583,558 (GRCm39) |
R84* |
probably null |
Het |
Rif1 |
G |
A |
2: 52,002,404 (GRCm39) |
V1953I |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 51,999,475 (GRCm39) |
N1137K |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,152,620 (GRCm39) |
H787R |
probably benign |
Het |
Sec16a |
T |
C |
2: 26,329,198 (GRCm39) |
E939G |
probably damaging |
Het |
Sh2d4a |
G |
A |
8: 68,783,807 (GRCm39) |
G247D |
possibly damaging |
Het |
Siglec1 |
A |
G |
2: 130,923,219 (GRCm39) |
S509P |
probably damaging |
Het |
Slc25a30 |
A |
G |
14: 76,000,770 (GRCm39) |
I278T |
probably damaging |
Het |
Slc6a20a |
C |
T |
9: 123,492,058 (GRCm39) |
V104I |
probably benign |
Het |
Sp110 |
G |
C |
1: 85,522,093 (GRCm39) |
T70S |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Stxbp1 |
A |
G |
2: 32,696,731 (GRCm39) |
|
probably null |
Het |
Tmem132b |
T |
C |
5: 125,855,908 (GRCm39) |
|
probably null |
Het |
Tnfsf13b |
G |
A |
8: 10,081,661 (GRCm39) |
|
probably null |
Het |
Trappc6a |
A |
G |
7: 19,248,154 (GRCm39) |
E38G |
probably damaging |
Het |
Trps1 |
T |
C |
15: 50,524,609 (GRCm39) |
D857G |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,700,718 (GRCm39) |
|
probably null |
Het |
Vmn1r23 |
A |
T |
6: 57,902,910 (GRCm39) |
N289K |
possibly damaging |
Het |
Zcchc8 |
G |
A |
5: 123,838,436 (GRCm39) |
Q701* |
probably null |
Het |
Zfp618 |
A |
T |
4: 63,004,871 (GRCm39) |
|
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 |
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'- GATAGCTTGCCTCTGGAAAGGCTC -3'
(R):5'- GGACCATCTTATCAGCCCACACTTC -3'
Sequencing Primer
(F):5'- CTCTGGAAAGGCTCAGGGG -3'
(R):5'- agttggcacattataactgcac -3'
|
Posted On |
2014-05-23 |