Incidental Mutation 'R1164:Ptprf'
ID100794
Institutional Source Beutler Lab
Gene Symbol Ptprf
Ensembl Gene ENSMUSG00000033295
Gene Nameprotein tyrosine phosphatase, receptor type, F
SynonymsRPTP-LAR, LAR
MMRRC Submission 039237-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.742) question?
Stock #R1164 (G1)
Quality Score95
Status Not validated
Chromosome4
Chromosomal Location118208213-118291405 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118257492 bp
ZygosityHeterozygous
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]
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,402,331 M1055K probably damaging Het
Adprh A T 16: 38,450,340 D34E probably benign Het
Aldh1a1 A T 19: 20,617,946 M80L probably benign Het
Arap2 T A 5: 62,683,477 D682V probably damaging Het
Atp4a T A 7: 30,717,692 L500Q probably benign Het
Atp6v1c2 T C 12: 17,308,316 E10G probably damaging Het
B4galt2 G A 4: 117,876,944 R299W possibly damaging Het
Brinp1 A C 4: 68,798,691 S307A probably benign Het
Cacna2d1 G A 5: 16,361,876 probably null Het
Ccdc3 T C 2: 5,141,266 V137A possibly damaging Het
Ccnb1ip1 T C 14: 50,792,137 K156R possibly damaging Het
Cfap77 A T 2: 28,962,688 W191R probably damaging Het
Chga A G 12: 102,563,045 E427G probably damaging Het
Chrnd A T 1: 87,192,545 Y32F probably benign Het
Cks1b C A 3: 89,415,942 probably benign Het
Creld2 G A 15: 88,820,631 W103* probably null Het
Dip2a C A 10: 76,276,397 R1098L possibly damaging Het
Dmbx1 T A 4: 115,918,258 H275L probably damaging Het
Dmrt2 A G 19: 25,677,993 M319V possibly damaging Het
Dock8 A G 19: 25,090,027 Y345C probably benign Het
Dpp6 A G 5: 27,721,105 T668A probably benign Het
Eef1d A G 15: 75,902,677 probably null Het
Epb41l3 A G 17: 69,274,767 T568A possibly damaging Het
Erc2 A G 14: 28,302,972 R603G probably damaging Het
Fam83d T C 2: 158,783,250 S254P probably damaging Het
Fcgr4 A T 1: 171,029,170 H202L possibly damaging Het
Gm38394 G A 1: 133,659,203 T132I probably damaging Het
Gm4922 C T 10: 18,783,721 A418T possibly damaging Het
Kmo A G 1: 175,658,559 H416R probably benign Het
Lao1 A G 4: 118,965,405 N174S probably benign Het
Lrwd1 A T 5: 136,130,990 H406Q probably benign Het
Magoh A G 4: 107,887,262 I143V probably benign Het
Mpz A G 1: 171,158,439 H49R possibly damaging Het
Nav1 T C 1: 135,472,410 N474S probably benign Het
Ndufb10 T G 17: 24,722,783 E68D probably benign Het
Obscn T C 11: 59,036,087 D5534G possibly damaging Het
Olfr1076 C A 2: 86,508,684 T75K probably damaging Het
Olfr126 T A 17: 37,850,684 F31I probably damaging Het
Olfr1425 A T 19: 12,074,241 Y130* probably null Het
Olfr159 T C 4: 43,770,991 T7A probably benign Het
Olfr345 A T 2: 36,640,120 Y27F probably benign Het
Olfr685 A T 7: 105,180,833 F160Y probably benign Het
Padi1 A T 4: 140,832,329 V79E possibly damaging Het
Pdha2 A G 3: 141,211,499 Y83H probably damaging Het
Phpt1 A G 2: 25,574,715 I42T probably damaging Het
Pot1b A C 17: 55,674,085 S310A probably benign Het
Ptpn13 G A 5: 103,489,773 V176I probably damaging Het
Rere A T 4: 150,534,884 Q381L unknown Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Scn8a G A 15: 101,040,162 C1804Y probably benign Het
Sema3c G A 5: 17,678,314 D307N probably benign Het
Siah2 T C 3: 58,676,316 E183G probably benign Het
Smarca5 G A 8: 80,710,631 L699F probably damaging Het
Smo T A 6: 29,754,719 S263T probably benign Het
Sox2 A G 3: 34,650,699 E95G probably damaging Het
T T C 17: 8,439,939 S171P probably benign Het
Tmc7 G T 7: 118,542,024 A628D probably benign Het
Tmem45a2 A G 16: 57,049,426 S52P probably damaging Het
Tubb3 C T 8: 123,421,447 A373V probably damaging Het
Uhrf1bp1 T C 17: 27,895,380 probably null Het
Upp2 A G 2: 58,763,704 Y69C probably damaging Het
Utp4 A G 8: 106,900,844 probably null Het
Vmn1r59 T A 7: 5,454,411 M117L probably benign Het
Xkr8 T C 4: 132,732,411 S19G probably benign Het
Zbtb24 T C 10: 41,464,527 Y518H probably damaging Het
Zfp324 T C 7: 12,971,624 I580T probably benign Het
Zfp995 G A 17: 21,879,979 H425Y probably damaging Het
Other mutations in Ptprf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Ptprf APN 4 118223220 splice site probably benign
IGL01337:Ptprf APN 4 118236291 missense probably damaging 1.00
IGL01482:Ptprf APN 4 118212454 missense probably damaging 1.00
IGL01743:Ptprf APN 4 118248898 critical splice donor site probably null
IGL01987:Ptprf APN 4 118277370 missense probably benign
IGL02189:Ptprf APN 4 118213642 splice site probably benign
IGL03067:Ptprf APN 4 118210713 missense possibly damaging 0.67
PIT4677001:Ptprf UTSW 4 118213612 missense probably damaging 1.00
R0382:Ptprf UTSW 4 118223394 splice site probably benign
R0788:Ptprf UTSW 4 118226466 missense probably damaging 0.97
R1478:Ptprf UTSW 4 118212105 nonsense probably null
R1483:Ptprf UTSW 4 118235964 missense possibly damaging 0.81
R1611:Ptprf UTSW 4 118236233 missense probably benign 0.34
R1721:Ptprf UTSW 4 118224899 missense possibly damaging 0.56
R1817:Ptprf UTSW 4 118223265 missense probably benign 0.02
R1818:Ptprf UTSW 4 118209871 missense probably damaging 1.00
R1860:Ptprf UTSW 4 118223932 missense probably damaging 1.00
R2208:Ptprf UTSW 4 118269172 splice site probably benign
R2406:Ptprf UTSW 4 118269304 missense possibly damaging 0.62
R2912:Ptprf UTSW 4 118248980 missense probably damaging 0.98
R3111:Ptprf UTSW 4 118211432 missense probably damaging 1.00
R3498:Ptprf UTSW 4 118224930 missense probably damaging 0.99
R3499:Ptprf UTSW 4 118224930 missense probably damaging 0.99
R3615:Ptprf UTSW 4 118237883 missense probably benign 0.04
R3616:Ptprf UTSW 4 118237883 missense probably benign 0.04
R4038:Ptprf UTSW 4 118257608 missense probably damaging 1.00
R4243:Ptprf UTSW 4 118226452 critical splice donor site probably null
R4260:Ptprf UTSW 4 118226083 missense possibly damaging 0.64
R4693:Ptprf UTSW 4 118211022 missense probably benign 0.16
R4726:Ptprf UTSW 4 118212217 missense possibly damaging 0.86
R4746:Ptprf UTSW 4 118225039 missense possibly damaging 0.83
R4802:Ptprf UTSW 4 118210329 intron probably benign
R4857:Ptprf UTSW 4 118217197 splice site probably benign
R5071:Ptprf UTSW 4 118211999 missense probably damaging 1.00
R5221:Ptprf UTSW 4 118225108 missense probably benign 0.00
R5327:Ptprf UTSW 4 118236389 missense probably damaging 1.00
R5336:Ptprf UTSW 4 118235634 missense probably damaging 1.00
R5356:Ptprf UTSW 4 118226338 missense probably benign 0.00
R5373:Ptprf UTSW 4 118226041 missense possibly damaging 0.93
R5555:Ptprf UTSW 4 118224924 missense probably damaging 1.00
R5693:Ptprf UTSW 4 118236177 nonsense probably null
R5860:Ptprf UTSW 4 118211289 intron probably benign
R5869:Ptprf UTSW 4 118210382 missense probably damaging 1.00
R5890:Ptprf UTSW 4 118224735 missense probably benign
R5932:Ptprf UTSW 4 118211767 missense probably benign 0.10
R6028:Ptprf UTSW 4 118213629 missense probably benign 0.01
R6030:Ptprf UTSW 4 118211048 missense probably benign 0.19
R6030:Ptprf UTSW 4 118211048 missense probably benign 0.19
R6088:Ptprf UTSW 4 118210755 missense possibly damaging 0.68
R6089:Ptprf UTSW 4 118211084 missense probably damaging 0.99
R6108:Ptprf UTSW 4 118223256 missense probably benign 0.01
R6320:Ptprf UTSW 4 118212814 missense probably benign
R6741:Ptprf UTSW 4 118223368 missense probably benign 0.00
R6744:Ptprf UTSW 4 118236365 missense probably benign 0.00
R6750:Ptprf UTSW 4 118231731 missense probably benign 0.03
R6906:Ptprf UTSW 4 118269277 missense possibly damaging 0.95
R7021:Ptprf UTSW 4 118223904 missense probably benign 0.00
R7153:Ptprf UTSW 4 118231543 missense probably damaging 1.00
R7326:Ptprf UTSW 4 118231669 missense probably damaging 0.99
R7337:Ptprf UTSW 4 118211125 missense probably damaging 0.99
R7374:Ptprf UTSW 4 118257492 missense probably damaging 1.00
R7375:Ptprf UTSW 4 118212814 missense probably benign
R7399:Ptprf UTSW 4 118226523 missense probably benign 0.28
R7417:Ptprf UTSW 4 118212172 missense probably damaging 1.00
R7448:Ptprf UTSW 4 118235667 missense probably benign 0.03
R7530:Ptprf UTSW 4 118212748 missense probably damaging 1.00
X0067:Ptprf UTSW 4 118236026 missense possibly damaging 0.85
Predicted Primers
Posted On2014-01-15