Incidental Mutation 'R8239:Ptprf'
| ID |
637495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprf
|
| Ensembl Gene |
ENSMUSG00000033295 |
| Gene Name |
protein tyrosine phosphatase receptor type F |
| Synonyms |
RPTP-LAR, LAR |
| MMRRC Submission |
067646-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.657)
|
| Stock # |
R8239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118065410-118148602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118069309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1586
(D1586G)
|
| 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: D1586G
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: D1586G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119954
Gene: ENSMUSG00000033295
AA Change: D1019G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117313
Gene: ENSMUSG00000033295
AA Change: D978G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,278,106 (GRCm39) |
S166P |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,686,914 (GRCm39) |
T19S |
probably damaging |
Het |
| Arid4b |
T |
A |
13: 14,344,594 (GRCm39) |
D557E |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| C2cd2l |
T |
C |
9: 44,227,502 (GRCm39) |
E307G |
possibly damaging |
Het |
| Cdh20 |
A |
C |
1: 110,027,832 (GRCm39) |
T526P |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,414,718 (GRCm39) |
V775M |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,969,673 (GRCm39) |
N63S |
probably benign |
Het |
| Dtnb |
A |
T |
12: 3,694,056 (GRCm39) |
Y248F |
unknown |
Het |
| Ehbp1l1 |
T |
A |
19: 5,770,089 (GRCm39) |
T405S |
possibly damaging |
Het |
| Fam149a |
A |
G |
8: 45,803,490 (GRCm39) |
Y415H |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,839,191 (GRCm39) |
L2351P |
unknown |
Het |
| Fsip2 |
T |
G |
2: 82,819,687 (GRCm39) |
I5140S |
possibly damaging |
Het |
| Gm8674 |
T |
C |
13: 50,054,262 (GRCm39) |
T749A |
noncoding transcript |
Het |
| Kalrn |
A |
G |
16: 33,870,153 (GRCm39) |
V1894A |
noncoding transcript |
Het |
| Kpna3 |
A |
T |
14: 61,624,919 (GRCm39) |
N141K |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,449,882 (GRCm39) |
G2067D |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,311,611 (GRCm39) |
Y2622* |
probably null |
Het |
| Lrtm2 |
A |
C |
6: 119,297,778 (GRCm39) |
F88V |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,429,333 (GRCm39) |
S454P |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,253,753 (GRCm39) |
P40S |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,788 (GRCm39) |
I135V |
probably benign |
Het |
| Or4a76 |
T |
A |
2: 89,460,907 (GRCm39) |
I112F |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Or8k27 |
C |
A |
2: 86,275,473 (GRCm39) |
M284I |
noncoding transcript |
Het |
| Patj |
A |
G |
4: 98,570,308 (GRCm39) |
E1711G |
possibly damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,128 (GRCm39) |
I104F |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plekhg4 |
C |
T |
8: 106,107,546 (GRCm39) |
R990* |
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,386,930 (GRCm39) |
S343P |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,241 (GRCm39) |
K269N |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,466,450 (GRCm39) |
I79K |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,584,090 (GRCm39) |
Q167H |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,077,848 (GRCm39) |
M20T |
probably damaging |
Het |
| Scrn2 |
T |
G |
11: 96,923,046 (GRCm39) |
L163R |
probably damaging |
Het |
| Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,701,951 (GRCm39) |
F120L |
probably benign |
Het |
| Slc8a2 |
A |
T |
7: 15,879,230 (GRCm39) |
H572L |
probably benign |
Het |
| Spats2 |
T |
A |
15: 99,106,776 (GRCm39) |
D357E |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,395,677 (GRCm39) |
N1816I |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,433,361 (GRCm39) |
V2A |
unknown |
Het |
| Susd3 |
T |
C |
13: 49,384,731 (GRCm39) |
T231A |
probably benign |
Het |
| Tamalin |
C |
T |
15: 101,128,902 (GRCm39) |
L217F |
probably damaging |
Het |
| Tcp1 |
A |
G |
17: 13,139,738 (GRCm39) |
D261G |
probably benign |
Het |
| Trpm2 |
C |
G |
10: 77,771,836 (GRCm39) |
S601T |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,659 (GRCm39) |
F124L |
probably benign |
Het |
| Unc80 |
G |
T |
1: 66,693,178 (GRCm39) |
E2522D |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,750 (GRCm39) |
T2365A |
|
Het |
| Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,597,550 (GRCm39) |
P1030Q |
probably damaging |
Het |
| Wrn |
T |
G |
8: 33,819,213 (GRCm39) |
K246N |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 29,991,147 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
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'- TGAAGAGCAAGGGTTCTGTCAG -3'
(R):5'- CATTGCAGGTGAGAGTCCAGAG -3'
Sequencing Primer
(F):5'- TGCTGCAGACAGGCTTC -3'
(R):5'- TGAGAGTCCAGAGCCACCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation