Incidental Mutation 'R2208:Ptprf'
| ID |
236768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprf
|
| Ensembl Gene |
ENSMUSG00000033295 |
| Gene Name |
protein tyrosine phosphatase receptor type F |
| Synonyms |
RPTP-LAR, LAR |
| MMRRC Submission |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.657)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118065410-118148602 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 118126369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049074]
[ENSMUST00000222620]
|
| 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 |
probably benign
Transcript: ENSMUST00000222620
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| Ahnak |
T |
C |
19: 8,995,096 (GRCm39) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,444,755 (GRCm39) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,455,809 (GRCm39) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,084,941 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,895,327 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,302,463 (GRCm39) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,485,120 (GRCm39) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,705,419 (GRCm39) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,463 (GRCm39) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,242,314 (GRCm39) |
V22D |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,223,887 (GRCm39) |
N883K |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,441,137 (GRCm39) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 114,983,791 (GRCm39) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,879,588 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,604 (GRCm39) |
|
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm39) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,070,236 (GRCm39) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,270,309 (GRCm39) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 99,993,765 (GRCm39) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,224,838 (GRCm39) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,987 (GRCm39) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,698,872 (GRCm39) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,480,934 (GRCm39) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,755,747 (GRCm39) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,516,773 (GRCm39) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,856,545 (GRCm39) |
D196G |
probably damaging |
Het |
| Or11h4b |
T |
C |
14: 50,919,020 (GRCm39) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,207,722 (GRCm39) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,196,073 (GRCm39) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,607,428 (GRCm39) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,976,602 (GRCm39) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,600,464 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,525,246 (GRCm39) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,378 (GRCm39) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,914 (GRCm39) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,714 (GRCm39) |
T92A |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,332,596 (GRCm39) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,888 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 51,104,321 (GRCm39) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,056,483 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,118,399 (GRCm39) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,646 (GRCm39) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,445,309 (GRCm39) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 26,079,362 (GRCm39) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,098 (GRCm39) |
C168R |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,035,065 (GRCm39) |
V462E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCCTTCATCAGGGTAC -3'
(R):5'- TAACAGGCTGTGACCACGTC -3'
Sequencing Primer
(F):5'- AACTGCCAGGCTTCACTG -3'
(R):5'- GACCACGTCTGTCCTGTGAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation