Incidental Mutation 'R2077:Ptprs'
ID 229245
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 040082-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2077 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56741990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 7 (R7Q)
Ref Sequence ENSEMBL: ENSMUSP00000153398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223642] [ENSMUST00000223642] [ENSMUST00000223859] [ENSMUST00000225456]
AlphaFold B0V2N1
Predicted Effect probably benign
Transcript: ENSMUST00000067538
AA Change: R519Q

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: R519Q

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: R519Q

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: R519Q

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 noncoding transcript
Transcript: ENSMUST00000143018
Predicted Effect probably null
Transcript: ENSMUST00000223642
Predicted Effect probably null
Transcript: ENSMUST00000223642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223691
Predicted Effect probably benign
Transcript: ENSMUST00000223859
AA Change: R519Q

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably null
Transcript: ENSMUST00000225456
AA Change: R7Q

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225785
Meta Mutation Damage Score 0.1287 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T A 4: 144,183,604 (GRCm39) probably benign Het
Abhd16b A C 2: 181,135,209 (GRCm39) D37A probably benign Het
Acp7 T C 7: 28,328,907 (GRCm39) E91G probably damaging Het
Alms1 T A 6: 85,599,291 (GRCm39) N1841K possibly damaging Het
Arhgap25 T A 6: 87,436,990 (GRCm39) D620V probably damaging Het
Caps2 C T 10: 112,035,632 (GRCm39) T371I possibly damaging Het
Ccdc175 A G 12: 72,186,794 (GRCm39) I350T possibly damaging Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cdc42bpb A G 12: 111,265,630 (GRCm39) L1434P probably damaging Het
Cdkl3 A T 11: 51,917,666 (GRCm39) E321V probably damaging Het
Clec2d G T 6: 129,160,153 (GRCm39) V56L possibly damaging Het
Cops3 A T 11: 59,715,136 (GRCm39) S301T possibly damaging Het
Crygd T C 1: 65,102,405 (GRCm39) D19G probably damaging Het
Dnah2 T C 11: 69,387,432 (GRCm39) I931M possibly damaging Het
Dst A T 1: 34,250,251 (GRCm39) R4068S probably damaging Het
Fas C T 19: 34,297,953 (GRCm39) probably benign Het
G6pd2 T A 5: 61,967,594 (GRCm39) D456E probably damaging Het
Galnt18 G A 7: 111,153,809 (GRCm39) R272W probably damaging Het
Grb2 C A 11: 115,536,651 (GRCm39) G200W probably damaging Het
Herc4 A G 10: 63,099,832 (GRCm39) N85S probably benign Het
Ighv7-2 T C 12: 113,875,727 (GRCm39) D92G probably damaging Het
Itih3 A G 14: 30,631,792 (GRCm39) V765A possibly damaging Het
Itm2b T C 14: 73,600,560 (GRCm39) N247D probably benign Het
Kcnd3 T C 3: 105,574,315 (GRCm39) V500A probably benign Het
Lrp2 C T 2: 69,338,187 (GRCm39) G1198R probably damaging Het
Ltb4r2 A G 14: 55,999,444 (GRCm39) T22A probably damaging Het
Mdga2 A G 12: 66,702,136 (GRCm39) V355A probably damaging Het
Megf8 T A 7: 25,053,163 (GRCm39) V1778E probably benign Het
Mroh2b G A 15: 4,974,448 (GRCm39) E1143K probably damaging Het
Nbn A T 4: 15,979,389 (GRCm39) Y458F probably damaging Het
Nlrc3 A G 16: 3,781,856 (GRCm39) C534R probably benign Het
Nup155 A G 15: 8,172,510 (GRCm39) E832G probably damaging Het
Or5w11 A G 2: 87,459,173 (GRCm39) Y122C probably damaging Het
Plcl2 A G 17: 50,913,857 (GRCm39) T289A probably benign Het
Rab3ip A T 10: 116,754,865 (GRCm39) D198E possibly damaging Het
Scaf4 A T 16: 90,049,323 (GRCm39) F255I unknown Het
Senp6 T C 9: 80,033,437 (GRCm39) S475P probably benign Het
Shpk T C 11: 73,094,785 (GRCm39) L67P probably damaging Het
Sik3 T A 9: 46,130,801 (GRCm39) Y1246N probably damaging Het
Slc44a2 A G 9: 21,265,020 (GRCm39) Y686C probably damaging Het
Slc6a19 A G 13: 73,848,685 (GRCm39) V23A probably benign Het
Slit3 A T 11: 35,435,575 (GRCm39) I169F possibly damaging Het
Stxbp5l A G 16: 37,056,637 (GRCm39) V379A possibly damaging Het
Tex2 T C 11: 106,397,690 (GRCm39) probably null Het
Tnpo3 A G 6: 29,586,143 (GRCm39) V149A possibly damaging Het
Vmn1r158 T A 7: 22,489,815 (GRCm39) R131S probably benign Het
Vmn2r24 T A 6: 123,792,358 (GRCm39) C562S probably damaging Het
Wipi1 T C 11: 109,468,490 (GRCm39) N368S probably benign Het
Zbtb41 T C 1: 139,351,831 (GRCm39) S315P 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
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
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'- TAACAAGCCAGCTCTGACG -3'
(R):5'- ACCCATGAGCAGACAAGGTG -3'

Sequencing Primer
(F):5'- TCTGACGGGAGGCCATG -3'
(R):5'- TGACCGGCTGGAAGACTTCTG -3'
Posted On 2014-09-17