Incidental Mutation 'R7574:Ptprs'
ID 586288
Institutional Source Beutler Lab
Gene Symbol Ptprs
Ensembl Gene ENSMUSG00000013236
Gene Name protein tyrosine phosphatase receptor type S
Synonyms Ptpt9, PTPsigma, PTP-NU3, RPTPsigma
MMRRC Submission 045660-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7574 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56730538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1144 (F1144L)
Ref Sequence ENSEMBL: ENSMUSP00000064048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223642] [ENSMUST00000223859] [ENSMUST00000225456]
AlphaFold B0V2N1
PDB Structure Crystal structure of mouse PTPsigma [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000067538
AA Change: F1144L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: F1144L

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
IGc2 45 114 3.38e-10 SMART
IGc2 147 214 2.4e-15 SMART
IGc2 244 305 8.26e-5 SMART
FN3 319 398 2.8e-14 SMART
FN3 414 497 3.24e-10 SMART
FN3 512 590 3.17e-13 SMART
FN3 605 692 9.69e-9 SMART
FN3 707 796 2.42e-9 SMART
FN3 811 890 2.22e0 SMART
FN3 905 995 8.31e-8 SMART
FN3 1009 1085 3.22e-5 SMART
low complexity region 1164 1177 N/A INTRINSIC
transmembrane domain 1259 1281 N/A INTRINSIC
PTPc 1351 1609 1.54e-136 SMART
PTPc 1638 1900 3.12e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086828
AA Change: F738L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: F738L

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
IGc2 45 114 3.38e-10 SMART
IGc2 147 214 2.4e-15 SMART
IGc2 244 305 8.26e-5 SMART
FN3 319 398 2.8e-14 SMART
FN3 414 497 3.24e-10 SMART
FN3 512 590 3.17e-13 SMART
FN3 603 679 2.54e-3 SMART
low complexity region 758 771 N/A INTRINSIC
transmembrane domain 853 875 N/A INTRINSIC
PTPc 945 1203 1.54e-136 SMART
PTPc 1232 1494 3.12e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223642
Predicted Effect probably damaging
Transcript: ENSMUST00000223859
AA Change: F738L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000225456
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
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 contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Almost half of null homozygotes die in the first day of life. Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs. Adult mice are small, lack estrus, have decreased litter sizes and have impairedolfaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,478 (GRCm39) V240A probably damaging Het
A930009A15Rik C T 10: 115,406,019 (GRCm39) probably benign Het
Aarsd1 A G 11: 101,301,970 (GRCm39) I201T probably damaging Het
Acaca T A 11: 84,152,414 (GRCm39) Y854N probably benign Het
Adra2c T C 5: 35,437,759 (GRCm39) L177P probably damaging Het
Akr1c12 A T 13: 4,329,309 (GRCm39) I16N probably damaging Het
Aldh8a1 A T 10: 21,256,729 (GRCm39) I47F possibly damaging Het
Birc6 A G 17: 74,886,879 (GRCm39) I736V probably benign Het
Bmp2 A T 2: 133,402,817 (GRCm39) M123L probably benign Het
C1ql1 T C 11: 102,836,812 (GRCm39) Y159C probably damaging Het
Ccdc148 T C 2: 58,713,645 (GRCm39) Y502C probably damaging Het
Ccdc168 A T 1: 44,098,593 (GRCm39) V835E possibly damaging Het
Cenpf A T 1: 189,390,864 (GRCm39) N989K probably damaging Het
Ciz1 A G 2: 32,257,380 (GRCm39) M142V probably benign Het
Cnot4 T C 6: 35,029,939 (GRCm39) R320G possibly damaging Het
Cyth1 G T 11: 118,073,689 (GRCm39) H215N probably damaging Het
Dapk1 G A 13: 60,908,987 (GRCm39) G1200D probably damaging Het
Dhps A G 8: 85,799,181 (GRCm39) Y103C probably damaging Het
Dnah1 T A 14: 31,041,865 (GRCm39) E35D probably benign Het
Dnajb9 A T 12: 44,254,169 (GRCm39) D79E probably damaging Het
Eif4a2 T C 16: 22,928,877 (GRCm39) F164S probably benign Het
Enpp2 T C 15: 54,714,813 (GRCm39) T595A probably benign Het
Exoc6b T A 6: 84,768,366 (GRCm39) probably null Het
Fam171a1 T C 2: 3,221,391 (GRCm39) S286P probably damaging Het
Fermt2 T A 14: 45,706,782 (GRCm39) N338I probably damaging Het
Fhdc1 A G 3: 84,353,438 (GRCm39) F596L probably benign Het
Fry T C 5: 150,304,359 (GRCm39) V583A probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gdap1 T A 1: 17,231,665 (GRCm39) F337I possibly damaging Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Gpr6 A T 10: 40,946,652 (GRCm39) I310N possibly damaging Het
Gpsm2 G A 3: 108,608,061 (GRCm39) A239V probably damaging Het
Hexa T C 9: 59,471,267 (GRCm39) V507A probably benign Het
Hmcn2 A T 2: 31,345,531 (GRCm39) H4718L possibly damaging Het
Hrh4 T C 18: 13,154,970 (GRCm39) F170L possibly damaging Het
Ica1 T C 6: 8,658,266 (GRCm39) T284A probably benign Het
Itga5 T C 15: 103,258,876 (GRCm39) N774S probably damaging Het
Itgb2 T C 10: 77,395,992 (GRCm39) S556P probably benign Het
Kash5 A T 7: 44,854,035 (GRCm39) H31Q possibly damaging Het
Kcnq4 A G 4: 120,568,565 (GRCm39) F384L probably benign Het
Lama2 A T 10: 26,882,726 (GRCm39) N2612K probably benign Het
Lnx1 T C 5: 74,846,099 (GRCm39) E117G probably benign Het
Lrrc14b G T 13: 74,508,892 (GRCm39) A505E probably damaging Het
Ly6g T C 15: 75,030,413 (GRCm39) I77T probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrgpre C T 7: 143,335,087 (GRCm39) V139M probably damaging Het
Muc4 T A 16: 32,753,411 (GRCm38) S1096T probably benign Het
Myrfl G A 10: 116,667,430 (GRCm39) R337* probably null Het
Ndufa4 C T 6: 11,906,092 (GRCm39) V20I probably benign Het
Nf1 A G 11: 79,299,595 (GRCm39) D241G probably null Het
Nid1 A G 13: 13,643,028 (GRCm39) D322G probably benign Het
Nova1 A T 12: 46,747,544 (GRCm39) D244E unknown Het
Or11g27 T A 14: 50,771,770 (GRCm39) D300E probably benign Het
Or4a68 T C 2: 89,269,745 (GRCm39) K293E possibly damaging Het
Or5m10b A G 2: 85,699,350 (GRCm39) K138R probably benign Het
Padi2 C A 4: 140,676,648 (GRCm39) N595K possibly damaging Het
Pag1 A G 3: 9,758,951 (GRCm39) I389T probably damaging Het
Pcdh10 G T 3: 45,335,810 (GRCm39) G708V possibly damaging Het
Pecam1 A G 11: 106,590,610 (GRCm39) S55P probably damaging Het
Plin3 A T 17: 56,591,192 (GRCm39) V196E possibly damaging Het
Plxdc1 A T 11: 97,847,316 (GRCm39) L119Q possibly damaging Het
Pnliprp1 A T 19: 58,726,681 (GRCm39) N346I probably damaging Het
Ppp1r27 A T 11: 120,441,856 (GRCm39) Y8* probably null Het
Prg3 A T 2: 84,819,746 (GRCm39) D80V probably damaging Het
Prmt5 T C 14: 54,745,347 (GRCm39) N607D possibly damaging Het
Rai14 C T 15: 10,593,189 (GRCm39) G152R probably damaging Het
Rap1gds1 T A 3: 138,661,976 (GRCm39) R427* probably null Het
Recql5 A G 11: 115,819,248 (GRCm39) V106A probably benign Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Rfx6 A G 10: 51,557,914 (GRCm39) D129G probably benign Het
Rsf1 T A 7: 97,310,374 (GRCm39) I368K Het
Sema6a C G 18: 47,424,231 (GRCm39) V226L probably damaging Het
Sf1 A G 19: 6,422,234 (GRCm39) E220G probably damaging Het
Shld2 C T 14: 33,959,423 (GRCm39) S853N probably damaging Het
Sidt1 T A 16: 44,079,848 (GRCm39) Y602F probably damaging Het
Slc17a8 A G 10: 89,428,008 (GRCm39) I273T probably benign Het
Slc28a2b A T 2: 122,353,325 (GRCm39) I502F not run Het
Slc41a1 A T 1: 131,766,889 (GRCm39) I136F probably damaging Het
Snrpb T C 2: 130,018,939 (GRCm39) I51V probably benign Het
Sprr2f T A 3: 92,273,254 (GRCm39) C18S unknown Het
Stab1 T C 14: 30,876,622 (GRCm39) N864S probably benign Het
Svil C A 18: 5,095,188 (GRCm39) T1457K probably benign Het
Syt1 A T 10: 108,340,262 (GRCm39) I352N probably damaging Het
Tas2r119 A G 15: 32,178,279 (GRCm39) K282E probably damaging Het
Timeless T C 10: 128,080,538 (GRCm39) F473S probably damaging Het
Tmc3 A G 7: 83,247,481 (GRCm39) D192G probably damaging Het
Trmt1l T A 1: 151,316,591 (GRCm39) I184N possibly damaging Het
Ttll6 G A 11: 96,025,701 (GRCm39) V61M probably damaging Het
Ttn C T 2: 76,632,755 (GRCm39) E14100K probably damaging Het
Txndc2 T A 17: 65,945,620 (GRCm39) I186F possibly damaging Het
Ubr1 A T 2: 120,703,672 (GRCm39) S1553T possibly damaging Het
Vmn1r208 T C 13: 22,956,705 (GRCm39) N264S probably benign Het
Vmn1r87 T A 7: 12,865,613 (GRCm39) M225L probably benign Het
Vmn2r101 T A 17: 19,831,899 (GRCm39) C632S possibly damaging Het
Wdr97 T A 15: 76,241,949 (GRCm39) Y747* probably null Het
Zfp474 T C 18: 52,772,261 (GRCm39) S305P probably benign Het
Zfp59 A G 7: 27,552,863 (GRCm39) N105S probably benign Het
Zfp804b T A 5: 6,822,301 (GRCm39) Y254F possibly damaging Het
Other mutations in Ptprs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Ptprs APN 17 56,765,243 (GRCm39) missense probably damaging 0.99
IGL01388:Ptprs APN 17 56,728,261 (GRCm39) missense probably damaging 1.00
IGL01568:Ptprs APN 17 56,720,958 (GRCm39) missense probably damaging 1.00
IGL01781:Ptprs APN 17 56,742,676 (GRCm39) missense probably damaging 1.00
IGL02499:Ptprs APN 17 56,744,884 (GRCm39) missense probably damaging 1.00
IGL02576:Ptprs APN 17 56,721,958 (GRCm39) missense probably damaging 1.00
IGL02736:Ptprs APN 17 56,765,248 (GRCm39) missense possibly damaging 0.88
IGL02871:Ptprs APN 17 56,754,443 (GRCm39) missense probably damaging 1.00
IGL02946:Ptprs APN 17 56,731,032 (GRCm39) missense probably benign
IGL03061:Ptprs APN 17 56,725,830 (GRCm39) missense probably damaging 0.96
IGL03347:Ptprs APN 17 56,742,972 (GRCm39) missense probably benign 0.07
IGL03351:Ptprs APN 17 56,744,943 (GRCm39) missense probably damaging 1.00
P0019:Ptprs UTSW 17 56,754,474 (GRCm39) splice site probably benign
PIT4434001:Ptprs UTSW 17 56,761,984 (GRCm39) missense probably null 0.02
PIT4520001:Ptprs UTSW 17 56,721,980 (GRCm39) missense probably damaging 1.00
R0240:Ptprs UTSW 17 56,743,087 (GRCm39) splice site probably null
R0240:Ptprs UTSW 17 56,743,087 (GRCm39) splice site probably null
R0504:Ptprs UTSW 17 56,761,220 (GRCm39) missense possibly damaging 0.60
R0518:Ptprs UTSW 17 56,726,621 (GRCm39) critical splice donor site probably null
R0539:Ptprs UTSW 17 56,765,255 (GRCm39) missense probably damaging 0.97
R0620:Ptprs UTSW 17 56,736,103 (GRCm39) missense possibly damaging 0.93
R0683:Ptprs UTSW 17 56,721,086 (GRCm39) missense probably damaging 1.00
R1147:Ptprs UTSW 17 56,730,504 (GRCm39) missense probably damaging 1.00
R1147:Ptprs UTSW 17 56,730,504 (GRCm39) missense probably damaging 1.00
R1474:Ptprs UTSW 17 56,731,128 (GRCm39) missense probably damaging 0.98
R1502:Ptprs UTSW 17 56,744,992 (GRCm39) missense probably benign 0.00
R1817:Ptprs UTSW 17 56,726,527 (GRCm39) missense probably damaging 1.00
R1844:Ptprs UTSW 17 56,741,510 (GRCm39) missense probably damaging 1.00
R2077:Ptprs UTSW 17 56,741,990 (GRCm39) missense probably null 0.26
R2086:Ptprs UTSW 17 56,761,984 (GRCm39) missense probably null 0.02
R2149:Ptprs UTSW 17 56,724,706 (GRCm39) missense probably damaging 1.00
R3618:Ptprs UTSW 17 56,735,965 (GRCm39) missense probably benign 0.25
R3722:Ptprs UTSW 17 56,724,485 (GRCm39) missense probably damaging 1.00
R3771:Ptprs UTSW 17 56,735,978 (GRCm39) missense possibly damaging 0.58
R3772:Ptprs UTSW 17 56,735,978 (GRCm39) missense possibly damaging 0.58
R3773:Ptprs UTSW 17 56,735,978 (GRCm39) missense possibly damaging 0.58
R4032:Ptprs UTSW 17 56,720,386 (GRCm39) missense probably damaging 1.00
R4326:Ptprs UTSW 17 56,754,468 (GRCm39) missense possibly damaging 0.83
R4327:Ptprs UTSW 17 56,754,468 (GRCm39) missense possibly damaging 0.83
R4480:Ptprs UTSW 17 56,733,404 (GRCm39) missense possibly damaging 0.79
R4505:Ptprs UTSW 17 56,758,678 (GRCm39) missense possibly damaging 0.57
R4507:Ptprs UTSW 17 56,726,014 (GRCm39) missense probably damaging 1.00
R4588:Ptprs UTSW 17 56,732,534 (GRCm39) missense probably damaging 1.00
R4662:Ptprs UTSW 17 56,724,666 (GRCm39) missense probably damaging 1.00
R4708:Ptprs UTSW 17 56,735,067 (GRCm39) missense probably damaging 1.00
R5016:Ptprs UTSW 17 56,726,070 (GRCm39) missense probably damaging 1.00
R5416:Ptprs UTSW 17 56,742,724 (GRCm39) missense probably damaging 1.00
R5447:Ptprs UTSW 17 56,736,128 (GRCm39) missense possibly damaging 0.50
R6041:Ptprs UTSW 17 56,726,080 (GRCm39) missense probably benign 0.00
R6329:Ptprs UTSW 17 56,724,427 (GRCm39) nonsense probably null
R6377:Ptprs UTSW 17 56,725,935 (GRCm39) missense probably damaging 1.00
R6605:Ptprs UTSW 17 56,729,195 (GRCm39) missense probably damaging 1.00
R6749:Ptprs UTSW 17 56,744,884 (GRCm39) missense probably damaging 1.00
R7113:Ptprs UTSW 17 56,758,697 (GRCm39) missense probably benign 0.40
R7114:Ptprs UTSW 17 56,758,697 (GRCm39) missense probably benign 0.40
R7133:Ptprs UTSW 17 56,724,429 (GRCm39) missense probably damaging 1.00
R7220:Ptprs UTSW 17 56,725,988 (GRCm39) missense probably benign 0.29
R7423:Ptprs UTSW 17 56,721,793 (GRCm39) missense probably damaging 1.00
R7440:Ptprs UTSW 17 56,731,256 (GRCm39) missense possibly damaging 0.75
R7457:Ptprs UTSW 17 56,726,502 (GRCm39) missense probably damaging 0.99
R7851:Ptprs UTSW 17 56,732,482 (GRCm39) missense probably benign
R7903:Ptprs UTSW 17 56,731,960 (GRCm39) nonsense probably null
R8013:Ptprs UTSW 17 56,742,994 (GRCm39) missense probably damaging 1.00
R8014:Ptprs UTSW 17 56,742,994 (GRCm39) missense probably damaging 1.00
R8094:Ptprs UTSW 17 56,735,947 (GRCm39) missense probably benign 0.01
R8112:Ptprs UTSW 17 56,741,532 (GRCm39) nonsense probably null
R8181:Ptprs UTSW 17 56,736,064 (GRCm39) missense probably damaging 1.00
R8511:Ptprs UTSW 17 56,754,440 (GRCm39) missense probably damaging 1.00
R8682:Ptprs UTSW 17 56,742,849 (GRCm39) missense probably damaging 0.98
R8875:Ptprs UTSW 17 56,742,946 (GRCm39) missense probably damaging 1.00
R8911:Ptprs UTSW 17 56,730,320 (GRCm39) missense probably benign 0.07
R8970:Ptprs UTSW 17 56,730,353 (GRCm39) missense possibly damaging 0.94
R9117:Ptprs UTSW 17 56,742,853 (GRCm39) missense possibly damaging 0.84
R9297:Ptprs UTSW 17 56,765,257 (GRCm39) missense probably damaging 0.96
R9539:Ptprs UTSW 17 56,725,715 (GRCm39) missense probably benign 0.09
R9803:Ptprs UTSW 17 56,729,217 (GRCm39) missense probably damaging 1.00
RF014:Ptprs UTSW 17 56,723,935 (GRCm39) missense probably damaging 1.00
X0028:Ptprs UTSW 17 56,744,831 (GRCm39) missense probably damaging 1.00
Z1176:Ptprs UTSW 17 56,741,468 (GRCm39) missense possibly damaging 0.66
Z1176:Ptprs UTSW 17 56,729,211 (GRCm39) nonsense probably null
Z1176:Ptprs UTSW 17 56,724,050 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TGGTTCCCAGGATGGAAGAC -3'
(R):5'- TTGAGGGATGCACAGGACAC -3'

Sequencing Primer
(F):5'- TTCCCAGGATGGAAGACAGCTG -3'
(R):5'- ACTGAGATCTGGCACGCCATG -3'
Posted On 2019-10-24