Incidental Mutation 'R6088:Ptprf'
ID |
486080 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprf
|
Ensembl Gene |
ENSMUSG00000033295 |
Gene Name |
protein tyrosine phosphatase receptor type F |
Synonyms |
RPTP-LAR, LAR |
MMRRC Submission |
044245-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.657)
|
Stock # |
R6088 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
118065410-118148602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118067952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1785
(T1785I)
|
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 |
possibly damaging
Transcript: ENSMUST00000049074
AA Change: T1785I
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000039368 Gene: ENSMUSG00000033295 AA Change: T1785I
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 |
noncoding transcript
Transcript: ENSMUST00000123484
|
Predicted Effect |
unknown
Transcript: ENSMUST00000124758
AA Change: T1218I
|
SMART Domains |
Protein: ENSMUSP00000119954 Gene: ENSMUSG00000033295 AA Change: T1218I
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: ENSMUST00000127616
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150096
AA Change: T1177I
|
SMART Domains |
Protein: ENSMUSP00000117313 Gene: ENSMUSG00000033295 AA Change: T1177I
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184953
|
Meta Mutation Damage Score |
0.2067 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
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 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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
G |
T |
18: 59,035,174 (GRCm39) |
V360F |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,401,547 (GRCm39) |
E1605K |
possibly damaging |
Het |
Arid4a |
A |
G |
12: 71,069,010 (GRCm39) |
D54G |
probably damaging |
Het |
Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
Bltp3a |
G |
A |
17: 28,103,579 (GRCm39) |
|
probably null |
Het |
Card6 |
A |
T |
15: 5,134,501 (GRCm39) |
V234E |
possibly damaging |
Het |
Cd1d1 |
G |
T |
3: 86,906,009 (GRCm39) |
Q89K |
probably benign |
Het |
Ciita |
G |
A |
16: 10,329,795 (GRCm39) |
R693K |
probably damaging |
Het |
Cox7a2l |
G |
T |
17: 83,811,401 (GRCm39) |
L77I |
probably benign |
Het |
Crybg2 |
A |
T |
4: 133,803,101 (GRCm39) |
|
probably null |
Het |
Cts8 |
T |
C |
13: 61,401,780 (GRCm39) |
N39S |
probably benign |
Het |
Def8 |
G |
T |
8: 124,186,787 (GRCm39) |
E456* |
probably null |
Het |
Dld |
A |
G |
12: 31,390,988 (GRCm39) |
F153L |
probably benign |
Het |
Elf1 |
C |
T |
14: 79,804,701 (GRCm39) |
T122I |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,562,119 (GRCm39) |
N961S |
probably benign |
Het |
Esp24 |
A |
G |
17: 39,350,901 (GRCm39) |
I34V |
probably benign |
Het |
Fam184b |
C |
A |
5: 45,741,354 (GRCm39) |
K292N |
probably damaging |
Het |
Gabrg3 |
T |
A |
7: 56,634,826 (GRCm39) |
N119I |
probably damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,942,187 (GRCm39) |
H524R |
probably damaging |
Het |
Kcp |
A |
T |
6: 29,502,631 (GRCm39) |
S205T |
probably benign |
Het |
Klb |
C |
T |
5: 65,506,356 (GRCm39) |
T201M |
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,492,148 (GRCm39) |
F365L |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,179,718 (GRCm39) |
H390L |
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
Myo5b |
T |
A |
18: 74,853,969 (GRCm39) |
L1196Q |
possibly damaging |
Het |
Ndufb8 |
A |
G |
19: 44,543,464 (GRCm39) |
S70P |
probably benign |
Het |
Neb |
T |
C |
2: 52,099,354 (GRCm39) |
D4832G |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,813,135 (GRCm39) |
V540A |
probably damaging |
Het |
Nr5a1 |
T |
C |
2: 38,592,007 (GRCm39) |
D322G |
probably benign |
Het |
Or1e1d-ps1 |
A |
T |
11: 73,819,649 (GRCm39) |
T273S |
probably benign |
Het |
Or5ak20 |
T |
A |
2: 85,183,698 (GRCm39) |
S191C |
probably damaging |
Het |
Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
Oxa1l |
T |
A |
14: 54,605,151 (GRCm39) |
|
probably null |
Het |
Pafah2 |
A |
G |
4: 134,140,692 (GRCm39) |
I221V |
probably benign |
Het |
Pibf1 |
T |
A |
14: 99,416,794 (GRCm39) |
F456I |
probably benign |
Het |
Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
Plekhg2 |
C |
T |
7: 28,060,438 (GRCm39) |
V964I |
probably benign |
Het |
Ppip5k1 |
C |
A |
2: 121,167,944 (GRCm39) |
V770L |
probably benign |
Het |
Ppl |
A |
T |
16: 4,922,852 (GRCm39) |
L213Q |
possibly damaging |
Het |
Pycr2 |
G |
A |
1: 180,733,801 (GRCm39) |
G131E |
probably damaging |
Het |
Rbpj |
C |
T |
5: 53,808,710 (GRCm39) |
|
probably null |
Het |
Rcc1 |
G |
T |
4: 132,060,153 (GRCm39) |
D430E |
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,162,007 (GRCm39) |
V525A |
possibly damaging |
Het |
Samd7 |
G |
A |
3: 30,810,632 (GRCm39) |
M216I |
probably benign |
Het |
Ska3 |
A |
T |
14: 58,054,151 (GRCm39) |
D266E |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,869,641 (GRCm39) |
V569M |
probably damaging |
Het |
Slc26a1 |
C |
T |
5: 108,821,872 (GRCm39) |
E6K |
possibly damaging |
Het |
Slc4a4 |
T |
A |
5: 89,345,563 (GRCm39) |
V741E |
probably benign |
Het |
St6galnac3 |
C |
T |
3: 152,912,352 (GRCm39) |
G164S |
probably damaging |
Het |
Tgs1 |
T |
A |
4: 3,595,383 (GRCm39) |
N517K |
probably benign |
Het |
Tns4 |
A |
G |
11: 98,964,546 (GRCm39) |
S522P |
probably damaging |
Het |
Trpm1 |
A |
T |
7: 63,917,724 (GRCm39) |
M355L |
probably damaging |
Het |
Trpm8 |
G |
A |
1: 88,234,400 (GRCm39) |
|
probably benign |
Het |
V1ra8 |
T |
C |
6: 90,180,082 (GRCm39) |
F95S |
probably damaging |
Het |
Zfp521 |
A |
C |
18: 13,979,166 (GRCm39) |
S416A |
possibly damaging |
Het |
Zfp574 |
T |
A |
7: 24,779,764 (GRCm39) |
V262E |
probably benign |
Het |
Zfp740 |
T |
A |
15: 102,117,243 (GRCm39) |
I77N |
probably damaging |
Het |
Zscan18 |
A |
T |
7: 12,509,125 (GRCm39) |
|
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 |
R3498:Ptprf
|
UTSW |
4 |
118,082,127 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- AATGGCTGTGTCAGGAGTCC -3'
(R):5'- CAAGACACTGCAGGGATCTG -3'
Sequencing Primer
(F):5'- AACTTCCCTGGCCTTCGGG -3'
(R):5'- ACACTGCAGGGATCTGAGTCG -3'
|
Posted On |
2017-08-16 |