Incidental Mutation 'R1164:Ptprf'
| ID |
100794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprf
|
| Ensembl Gene |
ENSMUSG00000033295 |
| Gene Name |
protein tyrosine phosphatase receptor type F |
| Synonyms |
RPTP-LAR, LAR |
| MMRRC Submission |
039237-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.657)
|
| Stock # |
R1164 (G1)
|
| Quality Score |
95 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118065410-118148602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118114689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 189
(S189P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049074]
[ENSMUST00000222620]
|
| AlphaFold |
A2A8L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049074
AA Change: S189P
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: S189P
| 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 damaging
Transcript: ENSMUST00000222620
AA Change: S189P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,621,305 (GRCm39) |
M1055K |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,270,702 (GRCm39) |
D34E |
probably benign |
Het |
| Aldh1a1 |
A |
T |
19: 20,595,310 (GRCm39) |
M80L |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,840,820 (GRCm39) |
D682V |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,417,117 (GRCm39) |
L500Q |
probably benign |
Het |
| Atp6v1c2 |
T |
C |
12: 17,358,317 (GRCm39) |
E10G |
probably damaging |
Het |
| B4galt2 |
G |
A |
4: 117,734,141 (GRCm39) |
R299W |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,114,354 (GRCm39) |
|
probably null |
Het |
| Brinp1 |
A |
C |
4: 68,716,928 (GRCm39) |
S307A |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,566,874 (GRCm39) |
|
probably null |
Het |
| Ccdc3 |
T |
C |
2: 5,146,077 (GRCm39) |
V137A |
possibly damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,594 (GRCm39) |
K156R |
possibly damaging |
Het |
| Cfap77 |
A |
T |
2: 28,852,700 (GRCm39) |
W191R |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,304 (GRCm39) |
E427G |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,120,267 (GRCm39) |
Y32F |
probably benign |
Het |
| Cks1b |
C |
A |
3: 89,323,249 (GRCm39) |
|
probably benign |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dip2a |
C |
A |
10: 76,112,231 (GRCm39) |
R1098L |
possibly damaging |
Het |
| Dmbx1 |
T |
A |
4: 115,775,455 (GRCm39) |
H275L |
probably damaging |
Het |
| Dmrt2 |
A |
G |
19: 25,655,357 (GRCm39) |
M319V |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,067,391 (GRCm39) |
Y345C |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,926,103 (GRCm39) |
T668A |
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,526 (GRCm39) |
|
probably null |
Het |
| Epb41l3 |
A |
G |
17: 69,581,762 (GRCm39) |
T568A |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 28,024,929 (GRCm39) |
R603G |
probably damaging |
Het |
| Fam83d |
T |
C |
2: 158,625,170 (GRCm39) |
S254P |
probably damaging |
Het |
| Fcgr4 |
A |
T |
1: 170,856,739 (GRCm39) |
H202L |
possibly damaging |
Het |
| Gm4922 |
C |
T |
10: 18,659,469 (GRCm39) |
A418T |
possibly damaging |
Het |
| Kmo |
A |
G |
1: 175,486,125 (GRCm39) |
H416R |
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,822,602 (GRCm39) |
N174S |
probably benign |
Het |
| Lrwd1 |
A |
T |
5: 136,159,844 (GRCm39) |
H406Q |
probably benign |
Het |
| Magoh |
A |
G |
4: 107,744,459 (GRCm39) |
I143V |
probably benign |
Het |
| Mpz |
A |
G |
1: 170,986,008 (GRCm39) |
H49R |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,400,148 (GRCm39) |
N474S |
probably benign |
Het |
| Ndufb10 |
T |
G |
17: 24,941,757 (GRCm39) |
E68D |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,926,913 (GRCm39) |
D5534G |
possibly damaging |
Het |
| Or13c7d |
T |
C |
4: 43,770,991 (GRCm39) |
T7A |
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,161,575 (GRCm39) |
F31I |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,132 (GRCm39) |
Y27F |
probably benign |
Het |
| Or4d10 |
A |
T |
19: 12,051,605 (GRCm39) |
Y130* |
probably null |
Het |
| Or52l1 |
A |
T |
7: 104,830,040 (GRCm39) |
F160Y |
probably benign |
Het |
| Or8k30 |
C |
A |
2: 86,339,028 (GRCm39) |
T75K |
probably damaging |
Het |
| Padi1 |
A |
T |
4: 140,559,640 (GRCm39) |
V79E |
possibly damaging |
Het |
| Pdha2 |
A |
G |
3: 140,917,260 (GRCm39) |
Y83H |
probably damaging |
Het |
| Phpt1 |
A |
G |
2: 25,464,727 (GRCm39) |
I42T |
probably damaging |
Het |
| Pot1b |
A |
C |
17: 55,981,085 (GRCm39) |
S310A |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,637,639 (GRCm39) |
V176I |
probably damaging |
Het |
| Rere |
A |
T |
4: 150,619,341 (GRCm39) |
Q381L |
unknown |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,938,043 (GRCm39) |
C1804Y |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,883,312 (GRCm39) |
D307N |
probably benign |
Het |
| Siah2 |
T |
C |
3: 58,583,737 (GRCm39) |
E183G |
probably benign |
Het |
| Smarca5 |
G |
A |
8: 81,437,260 (GRCm39) |
L699F |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,754,718 (GRCm39) |
S263T |
probably benign |
Het |
| Sox2 |
A |
G |
3: 34,704,848 (GRCm39) |
E95G |
probably damaging |
Het |
| T |
T |
C |
17: 8,658,771 (GRCm39) |
S171P |
probably benign |
Het |
| Tmc7 |
G |
T |
7: 118,141,247 (GRCm39) |
A628D |
probably benign |
Het |
| Tmem45a2 |
A |
G |
16: 56,869,789 (GRCm39) |
S52P |
probably damaging |
Het |
| Tubb3 |
C |
T |
8: 124,148,186 (GRCm39) |
A373V |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,653,716 (GRCm39) |
Y69C |
probably damaging |
Het |
| Utp4 |
A |
G |
8: 107,627,476 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,410 (GRCm39) |
M117L |
probably benign |
Het |
| Xkr8 |
T |
C |
4: 132,459,722 (GRCm39) |
S19G |
probably benign |
Het |
| Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
| Zbtb24 |
T |
C |
10: 41,340,523 (GRCm39) |
Y518H |
probably damaging |
Het |
| Zfp324 |
T |
C |
7: 12,705,551 (GRCm39) |
I580T |
probably benign |
Het |
| Zfp995 |
G |
A |
17: 22,098,960 (GRCm39) |
H425Y |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation