Incidental Mutation 'R1502:Ptprs'
ID 169406
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 039552-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1502 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56744992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 248 (N248S)
Ref Sequence ENSEMBL: ENSMUSP00000153134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223642] [ENSMUST00000223859] [ENSMUST00000225456]
AlphaFold B0V2N1
Predicted Effect probably benign
Transcript: ENSMUST00000067538
AA Change: N248S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: N248S

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: N248S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: N248S

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 benign
Transcript: ENSMUST00000223642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223691
Predicted Effect probably benign
Transcript: ENSMUST00000223859
AA Change: N248S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225785
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T G 11: 109,865,471 (GRCm39) T329P probably damaging Het
Adamts4 C A 1: 171,086,559 (GRCm39) P784T probably damaging Het
Adamts6 T C 13: 104,630,145 (GRCm39) L1096P probably damaging Het
Ap1b1 A G 11: 4,990,290 (GRCm39) S849G probably benign Het
Arap2 T C 5: 62,761,747 (GRCm39) S1660G probably benign Het
Atp10b A C 11: 43,121,174 (GRCm39) T946P probably damaging Het
Brpf1 A G 6: 113,299,381 (GRCm39) D1103G probably damaging Het
Bub1 A G 2: 127,669,339 (GRCm39) Y102H probably damaging Het
Ccdc182 A G 11: 88,185,193 (GRCm39) E91G probably benign Het
Cd200r4 C T 16: 44,653,803 (GRCm39) T154M probably damaging Het
Cdh20 A G 1: 104,881,755 (GRCm39) T407A probably benign Het
Col6a2 T C 10: 76,450,512 (GRCm39) I140V probably benign Het
Csn3 C A 5: 88,077,983 (GRCm39) T163K probably damaging Het
Dars2 A T 1: 160,874,375 (GRCm39) L438* probably null Het
Dbr1 T C 9: 99,464,440 (GRCm39) L289P probably damaging Het
Ddx46 A G 13: 55,811,122 (GRCm39) R573G possibly damaging Het
Defb10 T C 8: 22,348,972 (GRCm39) I10T possibly damaging Het
Dis3l T C 9: 64,233,069 (GRCm39) E136G possibly damaging Het
Dnajb13 T C 7: 100,156,668 (GRCm39) Q136R probably benign Het
Dse A T 10: 34,029,214 (GRCm39) S625R probably damaging Het
Dvl3 A G 16: 20,342,209 (GRCm39) D94G probably damaging Het
Dynlt2a2 A G 17: 15,187,876 (GRCm39) F133L probably benign Het
E130311K13Rik A C 3: 63,822,968 (GRCm39) Y225* probably null Het
Etnppl A G 3: 130,422,438 (GRCm39) I222V probably benign Het
Evc2 T C 5: 37,550,440 (GRCm39) L818P probably benign Het
Fbn1 A T 2: 125,205,626 (GRCm39) C1083* probably null Het
Flnc G A 6: 29,438,693 (GRCm39) V196I probably benign Het
Fscn3 A G 6: 28,435,622 (GRCm39) D415G probably benign Het
Gm4861 A C 3: 137,256,381 (GRCm39) V75G probably damaging Het
Gpld1 A T 13: 25,155,399 (GRCm39) T345S probably benign Het
Grik4 T C 9: 42,432,169 (GRCm39) S943G probably damaging Het
Grik4 C T 9: 42,502,743 (GRCm39) R460Q probably benign Het
Ifi207 A C 1: 173,556,872 (GRCm39) L629R possibly damaging Het
Ift52 G A 2: 162,871,782 (GRCm39) probably null Het
Insl3 A G 8: 72,142,876 (GRCm39) D79G probably damaging Het
Kif5a A T 10: 127,081,310 (GRCm39) I208N probably damaging Het
Lag3 T C 6: 124,886,206 (GRCm39) Y249C probably damaging Het
Lipe T C 7: 25,097,572 (GRCm39) N124D possibly damaging Het
Lnpep A G 17: 17,791,906 (GRCm39) Y412H probably damaging Het
Lrtm2 A G 6: 119,294,235 (GRCm39) Y299H probably benign Het
Lypd4 T C 7: 24,566,253 (GRCm39) T24A probably benign Het
Magi1 T A 6: 93,671,151 (GRCm39) I805F probably damaging Het
Mfap3 T C 11: 57,418,975 (GRCm39) L45P probably benign Het
Nbea G A 3: 55,912,310 (GRCm39) P1159L probably benign Het
Ndst4 A T 3: 125,231,407 (GRCm39) probably benign Het
Notch1 A T 2: 26,374,335 (GRCm39) N229K possibly damaging Het
Nova1 A G 12: 46,767,615 (GRCm39) I102T unknown Het
Npepps T C 11: 97,109,401 (GRCm39) E725G possibly damaging Het
Or11g27 A T 14: 50,771,234 (GRCm39) M122L possibly damaging Het
Or13a1 T C 6: 116,471,242 (GRCm39) I224T probably damaging Het
Or5l14 T C 2: 87,792,379 (GRCm39) N286D probably damaging Het
Or6c69c T C 10: 129,910,741 (GRCm39) I154T probably damaging Het
Pappa2 A T 1: 158,784,858 (GRCm39) W51R probably damaging Het
Pde8a T C 7: 80,942,007 (GRCm39) S149P probably damaging Het
Pgap6 A G 17: 26,339,290 (GRCm39) T535A possibly damaging Het
Phkb T A 8: 86,785,968 (GRCm39) L1052Q possibly damaging Het
Pou5f2 T A 13: 78,173,370 (GRCm39) L104Q probably benign Het
Pramel32 T A 4: 88,546,269 (GRCm39) I358F probably benign Het
Psme2b A T 11: 48,836,576 (GRCm39) W124R probably damaging Het
Ptk2b G A 14: 66,400,529 (GRCm39) S762L possibly damaging Het
Rgs22 G A 15: 36,080,997 (GRCm39) T705I probably damaging Het
Rnf123 T C 9: 107,945,709 (GRCm39) probably null Het
Sel1l2 A T 2: 140,231,515 (GRCm39) I13N probably damaging Het
Slc39a4 T C 15: 76,500,793 (GRCm39) T57A probably benign Het
Smpdl3a T G 10: 57,685,187 (GRCm39) V319G probably damaging Het
Syt9 T C 7: 107,035,694 (GRCm39) L237P probably damaging Het
Tbc1d16 G T 11: 119,044,830 (GRCm39) A536E probably damaging Het
Tcf20 T C 15: 82,739,777 (GRCm39) D558G probably damaging Het
Tdpoz2 A T 3: 93,559,453 (GRCm39) M173K probably benign Het
Tek A G 4: 94,669,339 (GRCm39) I113M probably damaging Het
Tmem50a A T 4: 134,636,980 (GRCm39) D50E probably benign Het
Trappc11 A T 8: 47,983,862 (GRCm39) V10E possibly damaging Het
Vmn1r172 C T 7: 23,359,681 (GRCm39) R189* probably null Het
Vmn2r63 A T 7: 42,578,015 (GRCm39) D174E possibly damaging Het
Zc3h10 A T 10: 128,380,151 (GRCm39) M402K probably damaging Het
Zfp109 T C 7: 23,927,588 (GRCm39) H615R probably damaging Het
Zfp982 A C 4: 147,597,126 (GRCm39) H161P probably benign Het
Zhx1 A G 15: 57,917,992 (GRCm39) F85L 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
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
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'- TTTTACAGTGATCTGGGCCACGG -3'
(R):5'- TGTGTACTTCCATGCTGCGACC -3'

Sequencing Primer
(F):5'- CTCGATCACACCCAGGCTG -3'
(R):5'- GGAACCCTTTGCTATGAGAGC -3'
Posted On 2014-04-13