Incidental Mutation 'R8511:Ptprs'
ID 655908
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 067888-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8511 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56754440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 200 (T200I)
Ref Sequence ENSEMBL: ENSMUSP00000064048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223859]
AlphaFold B0V2N1
PDB Structure Crystal structure of mouse PTPsigma [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000067538
AA Change: T200I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: T200I

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 possibly damaging
Transcript: ENSMUST00000086828
AA Change: T200I

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: T200I

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 damaging
Transcript: ENSMUST00000223859
AA Change: T200I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik T C 11: 11,540,056 (GRCm39) H186R unknown Het
6430548M08Rik A G 8: 120,879,301 (GRCm39) N233S probably benign Het
Acan A G 7: 78,747,683 (GRCm39) D818G possibly damaging Het
Adam22 G A 5: 8,184,558 (GRCm39) T478I probably damaging Het
Afg2a A G 3: 37,490,897 (GRCm39) M481V probably damaging Het
Agmo T A 12: 37,294,396 (GRCm39) *115R probably null Het
Ahnak A G 19: 8,989,719 (GRCm39) K3668E unknown Het
Aldh6a1 G A 12: 84,480,745 (GRCm39) T430I possibly damaging Het
Ankrd11 T C 8: 123,626,468 (GRCm39) D17G Het
Apol10b T C 15: 77,469,211 (GRCm39) E322G probably benign Het
Apol10b C G 15: 77,469,210 (GRCm39) E322D probably benign Het
Apol8 C T 15: 77,634,273 (GRCm39) G101E probably benign Het
Arhgef26 A T 3: 62,336,350 (GRCm39) M630L probably damaging Het
Aspm T C 1: 139,385,046 (GRCm39) L230P probably damaging Het
Atg101 T C 15: 101,188,503 (GRCm39) S203P probably damaging Het
Baz2b T A 2: 59,732,158 (GRCm39) T1996S probably benign Het
Brwd1 A T 16: 95,859,938 (GRCm39) M350K probably damaging Het
Cad A G 5: 31,233,165 (GRCm39) K1869R probably benign Het
Caskin1 A T 17: 24,724,910 (GRCm39) I1233F probably benign Het
Ckap5 T A 2: 91,445,492 (GRCm39) L1770I possibly damaging Het
Clip1 T C 5: 123,791,969 (GRCm39) N67S possibly damaging Het
Csmd2 A G 4: 128,262,692 (GRCm39) N626S Het
Cuedc2 C A 19: 46,319,358 (GRCm39) probably null Het
Dmbt1 A T 7: 130,703,742 (GRCm39) N1275Y unknown Het
Dnm3 A G 1: 162,113,611 (GRCm39) V483A possibly damaging Het
Dock9 A T 14: 121,864,801 (GRCm39) H718Q probably benign Het
Dock9 T C 14: 121,918,847 (GRCm39) D50G probably damaging Het
Egfr T G 11: 16,846,949 (GRCm39) I782S probably damaging Het
Elmod1 A T 9: 53,820,095 (GRCm39) F298I probably damaging Het
Enthd1 T C 15: 80,358,428 (GRCm39) Q364R probably damaging Het
Fat2 T A 11: 55,200,063 (GRCm39) S1004C probably damaging Het
Fga A T 3: 82,939,064 (GRCm39) K480* probably null Het
Fhod3 A G 18: 25,265,994 (GRCm39) T1561A probably damaging Het
Foxg1 T A 12: 49,431,868 (GRCm39) Y200* probably null Het
Foxj2 C T 6: 122,808,404 (GRCm39) R115* probably null Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gpsm2 A G 3: 108,589,399 (GRCm39) S580P probably benign Het
Hectd1 A G 12: 51,834,654 (GRCm39) S870P probably benign Het
Hic2 T A 16: 17,075,874 (GRCm39) N234K possibly damaging Het
Ica1 A G 6: 8,754,726 (GRCm39) F15L probably benign Het
Immp1l G A 2: 105,761,100 (GRCm39) R3H probably benign Het
Iqca1l T A 5: 24,750,906 (GRCm39) H559L possibly damaging Het
Jak3 T A 8: 72,138,194 (GRCm39) Y882N probably damaging Het
Klk1b1 C T 7: 43,619,767 (GRCm39) R109C possibly damaging Het
Luzp1 A G 4: 136,268,650 (GRCm39) D291G probably damaging Het
Map3k19 C T 1: 127,775,155 (GRCm39) E61K possibly damaging Het
Mical3 A G 6: 121,015,513 (GRCm39) I175T possibly damaging Het
Nectin3 G A 16: 46,284,363 (GRCm39) P107L probably damaging Het
Or10d5 A G 9: 39,861,455 (GRCm39) V204A probably benign Het
Pira1 A G 7: 3,742,347 (GRCm39) L60P probably damaging Het
Polr1a C A 6: 71,897,504 (GRCm39) H207N probably benign Het
Prokr2 A G 2: 132,223,422 (GRCm39) V40A probably benign Het
Prtg T C 9: 72,798,156 (GRCm39) probably null Het
Ramp3 C T 11: 6,626,709 (GRCm39) R139C probably benign Het
Scfd2 A G 5: 74,372,949 (GRCm39) V642A possibly damaging Het
Scn11a T C 9: 119,618,981 (GRCm39) K787R probably damaging Het
Slco3a1 A G 7: 73,952,990 (GRCm39) V523A probably benign Het
Smo A G 6: 29,755,531 (GRCm39) Y401C probably damaging Het
Stmn2 A G 3: 8,574,615 (GRCm39) probably benign Het
Stra6l G T 4: 45,885,347 (GRCm39) G605V probably benign Het
Syne2 A G 12: 76,055,647 (GRCm39) I4170V probably benign Het
Tgm7 T A 2: 120,924,141 (GRCm39) I594F probably damaging Het
Tle2 T C 10: 81,423,830 (GRCm39) L648P probably damaging Het
Tmprss2 G T 16: 97,369,662 (GRCm39) L371I possibly damaging Het
Ttn T C 2: 76,579,866 (GRCm39) R23676G probably damaging Het
Tvp23b T C 11: 62,774,563 (GRCm39) I69T possibly damaging Het
Vmn2r66 A T 7: 84,656,026 (GRCm39) I330N probably damaging Het
Vmn2r99 A T 17: 19,614,443 (GRCm39) D721V probably damaging Het
Zan A T 5: 137,445,108 (GRCm39) V1717E unknown Het
Zmiz2 C T 11: 6,353,190 (GRCm39) H658Y probably 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
R7574:Ptprs UTSW 17 56,730,538 (GRCm39) missense probably benign 0.00
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
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'- CATTCCAATGACCCCTTGGATGG -3'
(R):5'- TTAGTCCACAGGATGCTGGG -3'

Sequencing Primer
(F):5'- TCGGGACTGCACAGGACAG -3'
(R):5'- TCCAGGAGTGGCAACCTCTTG -3'
Posted On 2020-10-20