Incidental Mutation 'R5890:Ptprf'
ID 457076
Institutional Source Beutler Lab
Gene Symbol Ptprf
Ensembl Gene ENSMUSG00000033295
Gene Name protein tyrosine phosphatase receptor type F
Synonyms RPTP-LAR, LAR
MMRRC Submission 044091-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.657) question?
Stock # R5890 (G1)
Quality Score 92
Status Not validated
Chromosome 4
Chromosomal Location 118065410-118148602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118081932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 1102 (I1102K)
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 probably benign
Transcript: ENSMUST00000049074
AA Change: I1102K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: I1102K

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 unknown
Transcript: ENSMUST00000124758
AA Change: I524K
SMART Domains Protein: ENSMUSP00000119954
Gene: ENSMUSG00000033295
AA Change: I524K

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 unknown
Transcript: ENSMUST00000150096
AA Change: I483K
SMART Domains Protein: ENSMUSP00000117313
Gene: ENSMUSG00000033295
AA Change: I483K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,550,554 (GRCm39) probably null Het
Acsm3 C A 7: 119,374,457 (GRCm39) T303N probably benign Het
Adamts13 A T 2: 26,876,603 (GRCm39) R506W probably damaging Het
Adck5 C T 15: 76,477,785 (GRCm39) T166M probably damaging Het
Adcy8 T A 15: 64,687,266 (GRCm39) I413F probably damaging Het
Adgrl2 A T 3: 148,564,811 (GRCm39) D252E probably damaging Het
Aldh16a1 T A 7: 44,793,969 (GRCm39) T636S probably benign Het
Ampd1 C A 3: 102,997,391 (GRCm39) F264L probably damaging Het
Arhgap17 T C 7: 122,885,981 (GRCm39) probably benign Het
Babam2 A G 5: 32,222,151 (GRCm39) probably benign Het
Bltp2 C T 11: 78,164,096 (GRCm39) Q40* probably null Het
Bod1l T A 5: 41,977,921 (GRCm39) E1131V probably benign Het
Cbs C T 17: 31,832,193 (GRCm39) V553M probably damaging Het
Cd72 T C 4: 43,454,475 (GRCm39) K18R probably damaging Het
Cep89 A G 7: 35,128,587 (GRCm39) Y580C probably damaging Het
Chrnb1 T A 11: 69,683,555 (GRCm39) I264F possibly damaging Het
Cntf A G 19: 12,741,357 (GRCm39) W168R probably damaging Het
Cxxc1 T A 18: 74,354,237 (GRCm39) D648E possibly damaging Het
Cyp2c68 A T 19: 39,700,936 (GRCm39) L294Q probably damaging Het
Dab2ip T C 2: 35,605,414 (GRCm39) S532P probably damaging Het
Defb3 G A 8: 19,345,200 (GRCm39) C52Y probably damaging Het
Dennd5a T G 7: 109,533,428 (GRCm39) E114A probably benign Het
Dnah12 T C 14: 26,428,039 (GRCm39) F222L probably benign Het
Dock9 A C 14: 121,905,820 (GRCm39) probably null Het
Fras1 A T 5: 96,793,807 (GRCm39) H1043L probably benign Het
Gamt C A 10: 80,095,741 (GRCm39) R63L possibly damaging Het
Gm1527 A G 3: 28,969,544 (GRCm39) H298R probably benign Het
Gphb5 C T 12: 75,462,596 (GRCm39) probably null Het
Greb1 A T 12: 16,783,422 (GRCm39) V104D possibly damaging Het
Hck A G 2: 152,970,996 (GRCm39) D86G probably damaging Het
Jhy T A 9: 40,833,958 (GRCm39) K321* probably null Het
Kcna5 C T 6: 126,511,699 (GRCm39) R143H probably damaging Het
Kif19a G T 11: 114,680,264 (GRCm39) W867L possibly damaging Het
Map3k4 G A 17: 12,490,303 (GRCm39) A376V probably damaging Het
Mars1 A T 10: 127,133,914 (GRCm39) M661K probably benign Het
Mecp2 C T X: 73,079,043 (GRCm39) V496M probably damaging Het
Mfsd2b A T 12: 4,917,651 (GRCm39) C132S probably damaging Het
Mfsd4a T C 1: 131,966,666 (GRCm39) Y356C probably damaging Het
Mif4gd G T 11: 115,500,188 (GRCm39) A89E probably benign Het
Mkln1 A T 6: 31,467,482 (GRCm39) E593D probably benign Het
Mlh1 G T 9: 111,057,563 (GRCm39) N749K possibly damaging Het
Mrgprb2 T A 7: 48,201,707 (GRCm39) *339C probably null Het
Nphp4 T C 4: 152,631,536 (GRCm39) V812A probably benign Het
Nrcam G T 12: 44,623,554 (GRCm39) V1048L probably benign Het
Obsl1 G A 1: 75,470,503 (GRCm39) A856V probably damaging Het
Osgepl1 T A 1: 53,357,326 (GRCm39) F163I probably damaging Het
Pcdha6 C A 18: 37,102,121 (GRCm39) T438K possibly damaging Het
Pcdhb20 A T 18: 37,638,286 (GRCm39) M271L probably benign Het
Phip T C 9: 82,789,005 (GRCm39) T770A probably benign Het
Ppm1d A G 11: 85,217,734 (GRCm39) T166A probably damaging Het
Sbsn T C 7: 30,452,692 (GRCm39) V569A possibly damaging Het
Skida1 T A 2: 18,050,814 (GRCm39) probably benign Het
Smg1 T A 7: 117,789,809 (GRCm39) probably benign Het
Sorcs2 A G 5: 36,386,535 (GRCm39) Y168H probably damaging Het
Sufu A T 19: 46,443,172 (GRCm39) probably null Het
Tbc1d24 A T 17: 24,404,500 (GRCm39) W215R probably damaging Het
Tenm4 T C 7: 96,552,067 (GRCm39) L2502P probably damaging Het
Tgm4 A T 9: 122,890,703 (GRCm39) E10V probably damaging Het
Trip11 T C 12: 101,852,231 (GRCm39) E611G probably damaging Het
Ttn C A 2: 76,540,243 (GRCm39) A34248S possibly damaging Het
Ube3a T A 7: 58,921,776 (GRCm39) N49K probably damaging Het
Ube3c A G 5: 29,863,290 (GRCm39) D855G possibly damaging Het
Ugt8a A G 3: 125,669,202 (GRCm39) S301P probably benign Het
Wdfy4 T A 14: 32,824,534 (GRCm39) N1295I possibly damaging Het
Wdr47 G T 3: 108,517,328 (GRCm39) G43C probably damaging Het
Wdtc1 A C 4: 133,021,673 (GRCm39) L601W unknown Het
Zfp236 A G 18: 82,658,276 (GRCm39) F614S possibly damaging Het
Zfp637 T A 6: 117,822,047 (GRCm39) D58E 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
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'- TCTTGGTGCCAGCAAGTTC -3'
(R):5'- GATCCTGTACAATGGGCAGAG -3'

Sequencing Primer
(F):5'- CGCCCACACGGTCAATG -3'
(R):5'- TGTACAATGGGCAGAGCGTGG -3'
Posted On 2017-02-15