Incidental Mutation 'IGL02189:Ptprf'
ID |
283811 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptprf
|
Ensembl Gene |
ENSMUSG00000033295 |
Gene Name |
protein tyrosine phosphatase receptor type F |
Synonyms |
RPTP-LAR, LAR |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.657)
|
Stock # |
IGL02189
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
118065410-118148602 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 118070839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049074]
|
AlphaFold |
A2A8L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049074
|
SMART Domains |
Protein: ENSMUSP00000039368 Gene: ENSMUSG00000033295
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 |
probably benign
Transcript: ENSMUST00000124758
|
SMART Domains |
Protein: ENSMUSP00000119954 Gene: ENSMUSG00000033295
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 |
probably benign
Transcript: ENSMUST00000150096
|
SMART Domains |
Protein: ENSMUSP00000117313 Gene: ENSMUSG00000033295
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
|
Coding Region Coverage |
|
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 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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
A |
T |
11: 48,838,248 (GRCm39) |
Y780N |
probably benign |
Het |
Aadacl2 |
T |
C |
3: 59,932,609 (GRCm39) |
S375P |
probably damaging |
Het |
Abi1 |
A |
C |
2: 22,930,076 (GRCm39) |
M1R |
probably null |
Het |
Acss1 |
T |
C |
2: 150,471,788 (GRCm39) |
D322G |
probably damaging |
Het |
Adam22 |
G |
A |
5: 8,380,029 (GRCm39) |
R90W |
possibly damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,648,275 (GRCm39) |
H515R |
probably benign |
Het |
C3 |
T |
C |
17: 57,527,113 (GRCm39) |
K779E |
probably benign |
Het |
Cfhr2 |
A |
G |
1: 139,749,497 (GRCm39) |
Y162H |
probably damaging |
Het |
Chchd5 |
T |
C |
2: 128,975,188 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,321,620 (GRCm39) |
I493F |
probably damaging |
Het |
Daam1 |
A |
T |
12: 71,993,059 (GRCm39) |
R349S |
unknown |
Het |
Dnah11 |
T |
C |
12: 118,046,314 (GRCm39) |
E1708G |
probably benign |
Het |
Epg5 |
A |
G |
18: 78,056,085 (GRCm39) |
D1753G |
probably damaging |
Het |
Flt4 |
T |
G |
11: 49,516,830 (GRCm39) |
C206G |
probably damaging |
Het |
Fscn1 |
G |
T |
5: 142,946,375 (GRCm39) |
A58S |
possibly damaging |
Het |
Gapvd1 |
A |
T |
2: 34,618,556 (GRCm39) |
N272K |
probably damaging |
Het |
Gem |
T |
A |
4: 11,706,121 (GRCm39) |
S70T |
possibly damaging |
Het |
H2-K2 |
A |
G |
17: 34,218,466 (GRCm39) |
L150P |
probably damaging |
Het |
Hsd3b3 |
T |
A |
3: 98,649,454 (GRCm39) |
I290L |
probably benign |
Het |
Iws1 |
A |
G |
18: 32,226,178 (GRCm39) |
R689G |
probably damaging |
Het |
Klk1b22 |
A |
G |
7: 43,765,630 (GRCm39) |
|
probably null |
Het |
Klra4 |
T |
A |
6: 130,021,105 (GRCm39) |
D230V |
possibly damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Liat1 |
A |
G |
11: 75,891,056 (GRCm39) |
K57E |
probably damaging |
Het |
Lilra5 |
A |
T |
7: 4,240,968 (GRCm39) |
M21L |
probably benign |
Het |
Lrrc20 |
T |
A |
10: 61,362,887 (GRCm39) |
V44D |
possibly damaging |
Het |
Mtx1 |
T |
G |
3: 89,116,624 (GRCm39) |
M426L |
probably damaging |
Het |
Mylk2 |
C |
T |
2: 152,757,074 (GRCm39) |
P283L |
probably damaging |
Het |
Mynn |
T |
A |
3: 30,667,693 (GRCm39) |
|
probably benign |
Het |
Odr4 |
G |
T |
1: 150,247,784 (GRCm39) |
N356K |
possibly damaging |
Het |
Or4c1 |
A |
C |
2: 89,133,641 (GRCm39) |
C98W |
probably damaging |
Het |
Parl |
T |
A |
16: 20,116,453 (GRCm39) |
I116F |
probably damaging |
Het |
Pdlim3 |
T |
C |
8: 46,338,630 (GRCm39) |
V5A |
probably damaging |
Het |
Pld1 |
G |
A |
3: 28,174,932 (GRCm39) |
V857I |
probably benign |
Het |
Ptprn |
A |
G |
1: 75,235,139 (GRCm39) |
S170P |
possibly damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Rps27a |
C |
A |
11: 29,496,772 (GRCm39) |
Q40H |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,585,183 (GRCm39) |
|
probably benign |
Het |
Scube3 |
G |
T |
17: 28,381,970 (GRCm39) |
C332F |
probably benign |
Het |
Sh3glb2 |
T |
C |
2: 30,235,351 (GRCm39) |
|
probably null |
Het |
Sh3tc2 |
A |
G |
18: 62,123,693 (GRCm39) |
E818G |
probably benign |
Het |
Slc16a3 |
G |
A |
11: 120,847,597 (GRCm39) |
V262I |
probably benign |
Het |
Sptbn1 |
T |
A |
11: 30,067,871 (GRCm39) |
D1781V |
probably damaging |
Het |
Ssr1 |
C |
T |
13: 38,171,492 (GRCm39) |
|
probably null |
Het |
Tep1 |
A |
G |
14: 51,064,283 (GRCm39) |
L2442S |
probably benign |
Het |
Tonsl |
A |
T |
15: 76,507,378 (GRCm39) |
V94D |
possibly damaging |
Het |
Ttc22 |
A |
T |
4: 106,496,354 (GRCm39) |
H468L |
probably benign |
Het |
Ttc27 |
C |
T |
17: 75,036,894 (GRCm39) |
T189M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,720,500 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
G |
2: 76,590,239 (GRCm39) |
I21157L |
probably damaging |
Het |
Vav3 |
T |
A |
3: 109,433,276 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |