Incidental Mutation 'IGL01987:Ptprf'
ID 181963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprf
Ensembl Gene ENSMUSG00000033295
Gene Name protein tyrosine phosphatase receptor type F
Synonyms RPTP-LAR, LAR
Accession Numbers
Essential gene? Possibly essential (E-score: 0.657) question?
Stock # IGL01987
Quality Score
Status
Chromosome 4
Chromosomal Location 118065410-118148602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118134567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 24 (M24L)
Ref Sequence ENSEMBL: ENSMUSP00000152568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049074] [ENSMUST00000222620]
AlphaFold A2A8L5
Predicted Effect probably benign
Transcript: ENSMUST00000049074
AA Change: M24L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: M24L

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: ENSMUST00000222620
AA Change: M24L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S probably 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
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
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
Posted On 2014-05-07