Incidental Mutation 'R6750:Ptprf'
ID 530682
Institutional Source Beutler Lab
Gene Symbol Ptprf
Ensembl Gene ENSMUSG00000033295
Gene Name protein tyrosine phosphatase receptor type F
Synonyms RPTP-LAR, LAR
MMRRC Submission 044867-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.657) question?
Stock # R6750 (G1)
Quality Score 121.008
Status Validated
Chromosome 4
Chromosomal Location 118065410-118148602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118088928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 625 (V625A)
Ref Sequence ENSEMBL: ENSMUSP00000039368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049074] [ENSMUST00000222620]
AlphaFold A2A8L5
PDB Structure Tandem Ig domains of tyrosine phosphatase LAR [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000049074
AA Change: V625A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: V625A

DomainStartEndE-ValueType
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: ENSMUST00000124758
SMART Domains Protein: ENSMUSP00000119954
Gene: ENSMUSG00000033295

DomainStartEndE-ValueType
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: ENSMUST00000143348
Predicted Effect probably benign
Transcript: ENSMUST00000150096
SMART Domains Protein: ENSMUSP00000117313
Gene: ENSMUSG00000033295

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000222620
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 100% (75/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A T 2: 120,973,130 (GRCm39) L62F probably damaging Het
Akap13 C T 7: 75,389,206 (GRCm39) P2375S probably benign Het
Apob T A 12: 8,047,853 (GRCm39) L931Q probably damaging Het
Arcn1 A G 9: 44,661,691 (GRCm39) V391A possibly damaging Het
Ccdc162 A T 10: 41,437,222 (GRCm39) I1729N possibly damaging Het
Cd24a T C 10: 43,458,721 (GRCm39) L86P unknown Het
Cdcp3 T A 7: 130,889,974 (GRCm39) probably benign Het
Churc1 C A 12: 76,822,405 (GRCm39) H71Q probably damaging Het
Clcn3 A G 8: 61,367,809 (GRCm39) L780P possibly damaging Het
Cldn17 C T 16: 88,303,195 (GRCm39) G178E possibly damaging Het
Cmah A G 13: 24,648,235 (GRCm39) Y345C probably damaging Het
Cntnap5b C T 1: 100,202,224 (GRCm39) S357L probably damaging Het
Col6a6 A G 9: 105,660,879 (GRCm39) I410T probably damaging Het
Crmp1 T C 5: 37,422,666 (GRCm39) probably null Het
Csmd2 A C 4: 128,091,018 (GRCm39) N186H possibly damaging Het
Cyp1a1 A T 9: 57,607,539 (GRCm39) M56L probably benign Het
D2hgdh G C 1: 93,754,129 (GRCm39) R56P probably benign Het
Dapk2 A G 9: 66,128,034 (GRCm39) E104G probably damaging Het
Dld T C 12: 31,382,213 (GRCm39) N498S probably benign Het
Dyrk4 G T 6: 126,875,918 (GRCm39) Q106K probably benign Het
Eif2b4 T C 5: 31,347,304 (GRCm39) I333V probably damaging Het
F5 A G 1: 164,021,076 (GRCm39) T1184A possibly damaging Het
Fbxl6 C T 15: 76,422,612 (GRCm39) G102D probably damaging Het
Foxa1 C T 12: 57,589,396 (GRCm39) G275R probably benign Het
Fryl A G 5: 73,179,575 (GRCm39) I2944T probably damaging Het
Gna15 T C 10: 81,350,117 (GRCm39) D95G probably benign Het
Greb1 T A 12: 16,738,584 (GRCm39) M1460L probably benign Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Herc2 T C 7: 55,747,195 (GRCm39) I444T probably damaging Het
Ifngr1 T A 10: 19,485,099 (GRCm39) M366K probably benign Het
Krt27 C T 11: 99,239,806 (GRCm39) E253K probably damaging Het
Mical2 C T 7: 111,981,046 (GRCm39) T406I probably damaging Het
Mocs2 T G 13: 114,962,784 (GRCm39) D156E probably damaging Het
Mprip A T 11: 59,586,957 (GRCm39) K43N probably damaging Het
Myo5b A T 18: 74,750,106 (GRCm39) T190S possibly damaging Het
Naa25 C T 5: 121,546,372 (GRCm39) T86M probably damaging Het
Ncam1 T C 9: 49,478,639 (GRCm39) D163G probably damaging Het
Nlrp4f A T 13: 65,329,468 (GRCm39) Y908* probably null Het
Nlrp9b T A 7: 19,757,159 (GRCm39) L132* probably null Het
Nrg1 A C 8: 32,308,124 (GRCm39) S679A probably damaging Het
Or1j1 C A 2: 36,702,954 (GRCm39) R50M possibly damaging Het
Or52p1 C T 7: 104,267,320 (GRCm39) R145C probably damaging Het
Paqr9 A T 9: 95,443,050 (GRCm39) T347S probably damaging Het
Pcdhb21 T C 18: 37,647,501 (GRCm39) L210P probably damaging Het
Pdzd7 T G 19: 45,016,187 (GRCm39) D978A probably benign Het
Phf8-ps A T 17: 33,285,372 (GRCm39) S477T possibly damaging Het
Pkd1l1 A T 11: 8,923,217 (GRCm39) S17T unknown Het
Plcz1 T C 6: 139,974,164 (GRCm39) K93E possibly damaging Het
Pom121l2 G C 13: 22,166,107 (GRCm39) R126P probably damaging Het
Prkg1 C T 19: 31,741,961 (GRCm39) E88K probably benign Het
Psme4 A T 11: 30,803,203 (GRCm39) D15V probably damaging Het
Rab27a G A 9: 72,992,290 (GRCm39) S106N probably damaging Het
Rasa4 A G 5: 136,129,802 (GRCm39) T261A probably benign Het
Sardh T C 2: 27,118,269 (GRCm39) D487G probably benign Het
Sec16a A G 2: 26,330,030 (GRCm39) Y662H probably benign Het
Sema3d T A 5: 12,635,067 (GRCm39) L711* probably null Het
Septin14 T A 5: 129,773,181 (GRCm39) Y152F probably damaging Het
Smc5 A G 19: 23,220,004 (GRCm39) L411P probably damaging Het
Spata31e5 C A 1: 28,816,495 (GRCm39) E512D probably damaging Het
Spg7 T A 8: 123,800,650 (GRCm39) V39E probably damaging Het
Tas2r117 A G 6: 132,779,817 (GRCm39) probably benign Het
Tle1 A T 4: 72,040,687 (GRCm39) I631N probably damaging Het
Tmed3 T A 9: 89,581,843 (GRCm39) S207C probably damaging Het
Tmem59l G A 8: 70,939,022 (GRCm39) P51S probably benign Het
Trpc3 A G 3: 36,678,542 (GRCm39) Y848H probably damaging Het
Tsen2 T C 6: 115,526,881 (GRCm39) F66S probably damaging Het
Ttll5 T A 12: 86,003,384 (GRCm39) S216R probably damaging Het
Usp22 A T 11: 61,048,042 (GRCm39) V426E probably damaging Het
Vmn2r76 T C 7: 85,875,114 (GRCm39) N621S probably damaging Het
Wdr75 A G 1: 45,856,539 (GRCm39) T521A probably damaging Het
Wrnip1 T A 13: 32,986,739 (GRCm39) D173E probably damaging Het
Zfp317 G A 9: 19,559,100 (GRCm39) G438D probably damaging Het
Zscan10 T A 17: 23,826,164 (GRCm39) S109T possibly damaging Het
Other mutations in Ptprf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGTTACCCACTGCAGCCTAC -3'
(R):5'- CTGTCTCAGCAGCCATATGC -3'

Sequencing Primer
(F):5'- ACATCTGTGTGTGCCCG -3'
(R):5'- GCAGCCATATGCCTAGAGG -3'
Posted On 2018-08-01