Incidental Mutation 'R6377:Ptprs'
ID 515081
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 044527-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6377 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56725935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1043 (M1043K)
Ref Sequence ENSEMBL: ENSMUSP00000084038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223859]
AlphaFold B0V2N1
Predicted Effect probably damaging
Transcript: ENSMUST00000067538
AA Change: M1449K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: M1449K

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 damaging
Transcript: ENSMUST00000086828
AA Change: M1043K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: M1043K

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 noncoding transcript
Transcript: ENSMUST00000184960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223706
Predicted Effect probably damaging
Transcript: ENSMUST00000223859
AA Change: M1039K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224522
Predicted Effect probably benign
Transcript: ENSMUST00000224777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225379
Meta Mutation Damage Score 0.7462 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 94% (59/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankib1 A G 5: 3,743,855 (GRCm39) S812P possibly damaging Het
Atp2c2 A G 8: 120,453,093 (GRCm39) E159G probably benign Het
Atrn A G 2: 130,821,889 (GRCm39) I861V probably damaging Het
Clip1 A G 5: 123,741,717 (GRCm39) V1053A possibly damaging Het
Cngb1 C A 8: 95,975,608 (GRCm39) G629C probably damaging Het
Cntn5 A T 9: 9,743,657 (GRCm39) F540Y probably damaging Het
Cpb1 A C 3: 20,329,748 (GRCm39) probably null Het
Cyp4a14 A G 4: 115,353,280 (GRCm39) Y11H probably benign Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dcstamp A T 15: 39,618,317 (GRCm39) Y242F probably benign Het
Drd3 G T 16: 43,641,670 (GRCm39) G329* probably null Het
Duxf1 T C 10: 58,059,494 (GRCm39) probably benign Het
Dysf T A 6: 83,985,945 (GRCm39) S17T probably benign Het
Eno1 A T 4: 150,333,009 (GRCm39) K366N possibly damaging Het
Ffar2 C T 7: 30,518,971 (GRCm39) V190I probably benign Het
Fkbp15 T C 4: 62,242,429 (GRCm39) T508A probably damaging Het
Fndc1 A G 17: 7,988,567 (GRCm39) V1165A unknown Het
Foxj3 A T 4: 119,430,945 (GRCm39) probably null Het
Gabarap T C 11: 69,882,630 (GRCm39) probably null Het
Gm19410 T A 8: 36,270,736 (GRCm39) L1221* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Igf1r A T 7: 67,850,998 (GRCm39) Y931F probably benign Het
Il23r A T 6: 67,400,636 (GRCm39) S565T probably damaging Het
Ipo8 A T 6: 148,717,995 (GRCm39) Y209* probably null Het
Jph2 C T 2: 163,181,632 (GRCm39) G511R probably benign Het
Khdrbs1 C A 4: 129,635,890 (GRCm39) D22Y probably damaging Het
Kif5b A T 18: 6,212,562 (GRCm39) L754Q probably damaging Het
Ksr1 C T 11: 78,927,320 (GRCm39) probably null Het
L3mbtl4 G T 17: 69,084,918 (GRCm39) V610F probably benign Het
Lars2 A G 9: 123,283,825 (GRCm39) T698A probably benign Het
Lonp1 A G 17: 56,928,961 (GRCm39) V267A possibly damaging Het
Loxhd1 T A 18: 77,468,128 (GRCm39) D925E probably damaging Het
Lsg1 A G 16: 30,393,386 (GRCm39) L187P possibly damaging Het
Mki67 A T 7: 135,298,050 (GRCm39) V2328E possibly damaging Het
Mlh3 A G 12: 85,315,271 (GRCm39) I305T probably damaging Het
Mtbp A G 15: 55,421,016 (GRCm39) M1V probably null Het
Myadml2 C A 11: 120,538,538 (GRCm39) C99F probably benign Het
Ncbp1 A G 4: 46,150,703 (GRCm39) Y185C probably damaging Het
Ndufaf7 A T 17: 79,250,739 (GRCm39) Q222L probably null Het
Nlrp4b A T 7: 10,449,339 (GRCm39) Y147F probably benign Het
Or4c11c C T 2: 88,661,613 (GRCm39) R51* probably null Het
Pet100 T C 8: 3,672,370 (GRCm39) V15A probably benign Het
Pot1a A G 6: 25,778,869 (GRCm39) V75A probably benign Het
Rnf31 A G 14: 55,832,984 (GRCm39) T413A probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rubcnl A T 14: 75,287,635 (GRCm39) probably null Het
Ryr3 A T 2: 112,462,530 (GRCm39) C4839S probably damaging Het
Scai A C 2: 38,992,340 (GRCm39) D379E probably benign Het
Scd2 G T 19: 44,288,198 (GRCm39) G197* probably null Het
Sdr39u1 A C 14: 56,135,166 (GRCm39) I259S probably benign Het
Slco1a5 A T 6: 142,187,906 (GRCm39) probably null Het
Sp1 A T 15: 102,339,318 (GRCm39) T733S probably benign Het
Tecta A G 9: 42,255,051 (GRCm39) S1711P probably damaging Het
Tedc1 G T 12: 113,124,975 (GRCm39) W240L probably damaging Het
Trarg1 T C 11: 76,571,355 (GRCm39) S124P probably damaging Het
Trim50 A G 5: 135,382,454 (GRCm39) K102R probably benign Het
Utrn A G 10: 12,619,827 (GRCm39) Y278H probably damaging Het
Vinac1 T A 2: 128,878,731 (GRCm39) D1065V unknown Het
Vmn2r109 A C 17: 20,784,796 (GRCm39) probably null Het
Zbed5 T C 5: 129,932,210 (GRCm39) S720P possibly damaging Het
Zc3h3 A G 15: 75,711,304 (GRCm39) S386P probably damaging Het
Zscan4-ps1 C T 7: 10,802,418 (GRCm39) probably null 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
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'- CCAGCTCCATGGTATCTAGTAGG -3'
(R):5'- TGTCAGAGGGCAAGTTGAAC -3'

Sequencing Primer
(F):5'- CTCCATGGTATCTAGTAGGGTGAC -3'
(R):5'- GGCAAGTTGAACAGCCCC -3'
Posted On 2018-05-04