Incidental Mutation 'R3498:Ptprf'
| ID |
273647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprf
|
| Ensembl Gene |
ENSMUSG00000033295 |
| Gene Name |
protein tyrosine phosphatase receptor type F |
| Synonyms |
RPTP-LAR, LAR |
| MMRRC Submission |
040661-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.698)
|
| Stock # |
R3498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118065410-118148602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118082127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1037
(I1037N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049074]
|
| AlphaFold |
A2A8L5 |
| PDB Structure |
Tandem Ig domains of tyrosine phosphatase LAR [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049074
AA Change: I1037N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: I1037N
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
45 |
114 |
2.64e-12 |
SMART |
|
IGc2
|
147 |
214 |
1.48e-15 |
SMART |
|
IG
|
238 |
316 |
1.06e-11 |
SMART |
|
FN3
|
319 |
398 |
6.9e-14 |
SMART |
|
FN3
|
414 |
497 |
5.73e-11 |
SMART |
|
FN3
|
512 |
591 |
4.06e-11 |
SMART |
|
FN3
|
606 |
693 |
8.69e-11 |
SMART |
|
FN3
|
709 |
797 |
8.83e-12 |
SMART |
|
FN3
|
812 |
892 |
3.2e-9 |
SMART |
|
FN3
|
907 |
988 |
2.53e-12 |
SMART |
|
FN3
|
1003 |
1079 |
3.48e-1 |
SMART |
|
coiled coil region
|
1146 |
1175 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1253 |
1275 |
N/A |
INTRINSIC |
|
PTPc
|
1342 |
1600 |
1.12e-138 |
SMART |
|
PTPc
|
1629 |
1891 |
3.4e-129 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124758
AA Change: I459N
|
| SMART Domains |
Protein: ENSMUSP00000119954
Gene: ENSMUSG00000033295
AA Change: I459N
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
37 |
116 |
4.06e-11 |
SMART |
|
FN3
|
132 |
220 |
8.83e-12 |
SMART |
|
FN3
|
235 |
315 |
3.2e-9 |
SMART |
|
FN3
|
330 |
411 |
2.53e-12 |
SMART |
|
FN3
|
426 |
502 |
3.48e-1 |
SMART |
|
coiled coil region
|
568 |
597 |
N/A |
INTRINSIC |
|
transmembrane domain
|
676 |
698 |
N/A |
INTRINSIC |
|
PTPc
|
776 |
1034 |
1.12e-138 |
SMART |
|
PTPc
|
1063 |
1325 |
3.4e-129 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143348
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150096
AA Change: I418N
|
| SMART Domains |
Protein: ENSMUSP00000117313
Gene: ENSMUSG00000033295
AA Change: I418N
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
14 |
66 |
2.7e1 |
SMART |
|
FN3
|
82 |
165 |
5.73e-11 |
SMART |
|
FN3
|
180 |
259 |
4.06e-11 |
SMART |
|
FN3
|
275 |
372 |
6.69e-12 |
SMART |
|
FN3
|
385 |
461 |
2.83e-1 |
SMART |
|
coiled coil region
|
527 |
556 |
N/A |
INTRINSIC |
|
transmembrane domain
|
635 |
657 |
N/A |
INTRINSIC |
|
PTPc
|
735 |
993 |
1.12e-138 |
SMART |
|
PTPc
|
1022 |
1284 |
3.4e-129 |
SMART |
|
| Meta Mutation Damage Score |
0.5072 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (43/43) |
| 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 intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups. Other characteristics of null mice include defective nerve regeneration and hyperactivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
| Kcnj11 |
T |
C |
7: 45,749,026 (GRCm39) |
D23G |
probably damaging |
Het |
| Lats2 |
G |
T |
14: 57,959,923 (GRCm39) |
A191E |
possibly damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
| Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
| Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,764 (GRCm39) |
M253K |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
| Slc22a4 |
T |
G |
11: 53,882,879 (GRCm39) |
K328N |
probably benign |
Het |
| Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,930,266 (GRCm39) |
W222R |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,567 (GRCm39) |
E466G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
probably benign |
Het |
|
| Other mutations in Ptprf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Ptprf
|
APN |
4 |
118,080,417 (GRCm39) |
splice site |
probably benign |
|
|
IGL01337:Ptprf
|
APN |
4 |
118,093,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Ptprf
|
APN |
4 |
118,069,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Ptprf
|
APN |
4 |
118,106,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01987:Ptprf
|
APN |
4 |
118,134,567 (GRCm39) |
missense |
probably benign |
|
|
IGL02189:Ptprf
|
APN |
4 |
118,070,839 (GRCm39) |
splice site |
probably benign |
|
|
IGL03067:Ptprf
|
APN |
4 |
118,067,910 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
PIT4677001:Ptprf
|
UTSW |
4 |
118,070,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Ptprf
|
UTSW |
4 |
118,080,591 (GRCm39) |
splice site |
probably benign |
|
|
R0788:Ptprf
|
UTSW |
4 |
118,083,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1164:Ptprf
|
UTSW |
4 |
118,114,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1478:Ptprf
|
UTSW |
4 |
118,069,302 (GRCm39) |
nonsense |
probably null |
|
|
R1483:Ptprf
|
UTSW |
4 |
118,093,161 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1611:Ptprf
|
UTSW |
4 |
118,093,430 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1721:Ptprf
|
UTSW |
4 |
118,082,096 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1817:Ptprf
|
UTSW |
4 |
118,080,462 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1818:Ptprf
|
UTSW |
4 |
118,067,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Ptprf
|
UTSW |
4 |
118,081,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Ptprf
|
UTSW |
4 |
118,126,369 (GRCm39) |
splice site |
probably benign |
|
|
R2406:Ptprf
|
UTSW |
4 |
118,126,501 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2912:Ptprf
|
UTSW |
4 |
118,106,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3111:Ptprf
|
UTSW |
4 |
118,068,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3499:Ptprf
|
UTSW |
4 |
118,082,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3615:Ptprf
|
UTSW |
4 |
118,095,080 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3616:Ptprf
|
UTSW |
4 |
118,095,080 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4038:Ptprf
|
UTSW |
4 |
118,114,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4243:Ptprf
|
UTSW |
4 |
118,083,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4260:Ptprf
|
UTSW |
4 |
118,083,280 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4693:Ptprf
|
UTSW |
4 |
118,068,219 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4726:Ptprf
|
UTSW |
4 |
118,069,414 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4746:Ptprf
|
UTSW |
4 |
118,082,236 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4802:Ptprf
|
UTSW |
4 |
118,067,526 (GRCm39) |
intron |
probably benign |
|
|
R4857:Ptprf
|
UTSW |
4 |
118,074,394 (GRCm39) |
splice site |
probably benign |
|
|
R5071:Ptprf
|
UTSW |
4 |
118,069,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Ptprf
|
UTSW |
4 |
118,082,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5327:Ptprf
|
UTSW |
4 |
118,093,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Ptprf
|
UTSW |
4 |
118,092,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Ptprf
|
UTSW |
4 |
118,083,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5373:Ptprf
|
UTSW |
4 |
118,083,238 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5555:Ptprf
|
UTSW |
4 |
118,082,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Ptprf
|
UTSW |
4 |
118,093,374 (GRCm39) |
nonsense |
probably null |
|
|
R5860:Ptprf
|
UTSW |
4 |
118,068,486 (GRCm39) |
intron |
probably benign |
|
|
R5869:Ptprf
|
UTSW |
4 |
118,067,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5890:Ptprf
|
UTSW |
4 |
118,081,932 (GRCm39) |
missense |
probably benign |
|
|
R5932:Ptprf
|
UTSW |
4 |
118,068,964 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6028:Ptprf
|
UTSW |
4 |
118,070,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6030:Ptprf
|
UTSW |
4 |
118,068,245 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6030:Ptprf
|
UTSW |
4 |
118,068,245 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6088:Ptprf
|
UTSW |
4 |
118,067,952 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6089:Ptprf
|
UTSW |
4 |
118,068,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6108:Ptprf
|
UTSW |
4 |
118,080,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6320:Ptprf
|
UTSW |
4 |
118,070,011 (GRCm39) |
missense |
probably benign |
|
|
R6741:Ptprf
|
UTSW |
4 |
118,080,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6744:Ptprf
|
UTSW |
4 |
118,093,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6750:Ptprf
|
UTSW |
4 |
118,088,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6906:Ptprf
|
UTSW |
4 |
118,126,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7021:Ptprf
|
UTSW |
4 |
118,081,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7153:Ptprf
|
UTSW |
4 |
118,088,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Ptprf
|
UTSW |
4 |
118,088,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7337:Ptprf
|
UTSW |
4 |
118,068,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7374:Ptprf
|
UTSW |
4 |
118,114,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Ptprf
|
UTSW |
4 |
118,070,011 (GRCm39) |
missense |
probably benign |
|
|
R7399:Ptprf
|
UTSW |
4 |
118,083,720 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7417:Ptprf
|
UTSW |
4 |
118,069,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Ptprf
|
UTSW |
4 |
118,092,864 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7530:Ptprf
|
UTSW |
4 |
118,069,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Ptprf
|
UTSW |
4 |
118,069,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8172:Ptprf
|
UTSW |
4 |
118,068,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8239:Ptprf
|
UTSW |
4 |
118,069,309 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8257:Ptprf
|
UTSW |
4 |
118,083,476 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8331:Ptprf
|
UTSW |
4 |
118,083,263 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8441:Ptprf
|
UTSW |
4 |
118,075,255 (GRCm39) |
splice site |
probably benign |
|
|
R8681:Ptprf
|
UTSW |
4 |
118,088,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8771:Ptprf
|
UTSW |
4 |
118,068,987 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8815:Ptprf
|
UTSW |
4 |
118,095,125 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8998:Ptprf
|
UTSW |
4 |
118,083,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8999:Ptprf
|
UTSW |
4 |
118,083,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9389:Ptprf
|
UTSW |
4 |
118,093,236 (GRCm39) |
missense |
probably benign |
|
|
R9508:Ptprf
|
UTSW |
4 |
118,126,776 (GRCm39) |
nonsense |
probably null |
|
|
R9581:Ptprf
|
UTSW |
4 |
118,092,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Ptprf
|
UTSW |
4 |
118,093,223 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Ptprf
|
UTSW |
4 |
118,126,812 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCCTCTATAAAGGCGGAG -3'
(R):5'- GTTTGCCAAGAATTTCCGTGTG -3'
Sequencing Primer
(F):5'- GCAGGCAGTGGCTTCTG -3'
(R):5'- AAGAATTTCCGTGTGGCCGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation