Incidental Mutation 'R8911:Ptprs'
ID 678657
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 068764-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8911 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56730320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1185 (A1185T)
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: A1185T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: A1185T

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: A779T

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: A779T

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: A779T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000224777
Predicted Effect probably benign
Transcript: ENSMUST00000225456
Meta Mutation Damage Score 0.1376 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
3425401B19Rik A T 14: 32,383,626 (GRCm39) C780S possibly damaging Het
Abca12 T C 1: 71,380,690 (GRCm39) D306G probably benign Het
Adgrl2 T C 3: 148,558,163 (GRCm39) probably benign Het
Agt T C 8: 125,291,184 (GRCm39) Y41C probably benign Het
Alx3 G T 3: 107,511,603 (GRCm39) R204L probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bcl11a C T 11: 24,114,763 (GRCm39) P702L probably damaging Het
Bpifa2 A G 2: 153,851,090 (GRCm39) N17S probably benign Het
Cabcoco1 T C 10: 68,377,584 (GRCm39) D35G probably benign Het
Cd69 T C 6: 129,252,187 (GRCm39) K21R probably benign Het
Cdhr18 T C 14: 13,823,796 (GRCm38) probably null Het
Cntn4 T C 6: 106,330,743 (GRCm39) probably null Het
Cntnap5c A C 17: 58,506,043 (GRCm39) N689T probably damaging Het
Cog5 A G 12: 31,883,238 (GRCm39) Y389C probably damaging Het
Col5a1 T C 2: 27,887,630 (GRCm39) probably null Het
Coro1b G A 19: 4,200,803 (GRCm39) R245Q probably damaging Het
Csmd1 T C 8: 16,748,019 (GRCm39) D244G probably damaging Het
Ctcfl C T 2: 172,937,121 (GRCm39) probably null Het
Dpy19l4 G A 4: 11,317,078 (GRCm39) P40L possibly damaging Het
Dsg4 C A 18: 20,584,929 (GRCm39) Y214* probably null Het
Eapp A T 12: 54,739,440 (GRCm39) probably benign Het
Fmo6 T C 1: 162,748,114 (GRCm39) T317A possibly damaging Het
Gm11595 A G 11: 99,663,564 (GRCm39) C39R unknown Het
Golim4 T C 3: 75,813,703 (GRCm39) probably benign Het
Greb1 G A 12: 16,740,903 (GRCm39) S1393L possibly damaging Het
Guca1b A G 17: 47,700,044 (GRCm39) I73V probably benign Het
Hdac7 C T 15: 97,694,789 (GRCm39) V796I possibly damaging Het
Hectd1 A G 12: 51,795,616 (GRCm39) I2271T probably damaging Het
Heg1 T G 16: 33,558,627 (GRCm39) Y1066* probably null Het
Helz2 C A 2: 180,880,173 (GRCm39) K514N Het
Ice1 C T 13: 70,740,787 (GRCm39) R70Q Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itgae A G 11: 73,004,447 (GRCm39) T245A probably damaging Het
Jhy G A 9: 40,822,453 (GRCm39) Q562* probably null Het
Khnyn A G 14: 56,124,735 (GRCm39) R330G probably benign Het
Lamc2 A T 1: 153,027,873 (GRCm39) C184S probably damaging Het
Lhx5 T A 5: 120,574,509 (GRCm39) L271* probably null Het
Magel2 G A 7: 62,029,537 (GRCm39) V814M unknown Het
Manf A G 9: 106,767,461 (GRCm39) I85T possibly damaging Het
Mgmt A G 7: 136,729,794 (GRCm39) T203A probably benign Het
Mmp9 C T 2: 164,794,568 (GRCm39) S520F possibly damaging Het
Myrip A G 9: 120,270,484 (GRCm39) E578G possibly damaging Het
Naaladl2 A G 3: 23,900,757 (GRCm39) M691T probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4c112 T C 2: 88,854,294 (GRCm39) N18D probably benign Het
Or4c117 T C 2: 88,955,608 (GRCm39) I156V probably benign Het
Pcdhga12 A T 18: 37,900,118 (GRCm39) M317L possibly damaging Het
Pcnt T G 10: 76,223,359 (GRCm39) K1941T probably damaging Het
Pde4dip A T 3: 97,650,917 (GRCm39) M896K probably benign Het
Pfkfb3 A T 2: 11,487,254 (GRCm39) probably null Het
Pik3cb A G 9: 98,946,201 (GRCm39) S542P probably benign Het
Pik3cg A G 12: 32,247,257 (GRCm39) V822A probably benign Het
Plcl2 G T 17: 50,915,141 (GRCm39) G717C probably damaging Het
Ptpru T A 4: 131,503,560 (GRCm39) I1157F probably damaging Het
Rbbp6 A G 7: 122,591,268 (GRCm39) T457A possibly damaging Het
Rdh16f2 A G 10: 127,712,812 (GRCm39) E270G probably damaging Het
Rrp15 C T 1: 186,453,641 (GRCm39) E269K unknown Het
Sec23b T C 2: 144,401,316 (GRCm39) V59A probably benign Het
Slc22a21 A T 11: 53,846,809 (GRCm39) probably null Het
Sp5 C A 2: 70,306,962 (GRCm39) P216T probably benign Het
Synj1 A T 16: 90,775,622 (GRCm39) D385E probably damaging Het
Trim37 C T 11: 87,097,629 (GRCm39) S808F possibly damaging Het
Tsks A T 7: 44,592,694 (GRCm39) probably benign Het
Upf1 A T 8: 70,791,087 (GRCm39) S563T possibly damaging Het
Upf2 A G 2: 5,987,893 (GRCm39) D580G unknown Het
Usp14 A G 18: 9,996,194 (GRCm39) I462T probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r184 C G 7: 25,966,310 (GRCm39) Q19E possibly damaging Het
Vps50 C A 6: 3,516,710 (GRCm39) A64E probably benign Het
Zc3h11a T A 1: 133,566,339 (GRCm39) N211I probably damaging Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp729a A T 13: 67,768,061 (GRCm39) S723T probably benign Het
Zmynd12 A T 4: 119,294,286 (GRCm39) I88F 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
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
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'- TAGGATGTAGGCAGACGCTG -3'
(R):5'- ATGGTCCCACTTCGGAAGTC -3'

Sequencing Primer
(F):5'- TGCCGAGGACTTACAGGCTC -3'
(R):5'- TGTCCTACTAGGTAGTCCAGAGGAC -3'
Posted On 2021-08-02