Incidental Mutation 'R7440:Ptprs'
ID 576926
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 045516-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7440 (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 G at 56731256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1050 (L1050P)
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 possibly damaging
Transcript: ENSMUST00000067538
AA Change: L1050P

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: L1050P

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: L644P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: L644P

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: L644P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000225456
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G A 3: 153,628,626 (GRCm39) T403I probably damaging Het
Adat1 A T 8: 112,716,530 (GRCm39) M64K probably damaging Het
Adcy2 C T 13: 68,944,786 (GRCm39) V199M probably damaging Het
Ankrd13a T C 5: 114,941,636 (GRCm39) S508P possibly damaging Het
Ap1g1 T A 8: 110,529,356 (GRCm39) probably null Het
Bicral C T 17: 47,136,710 (GRCm39) G167R probably damaging Het
Ccser2 T C 14: 36,620,174 (GRCm39) K727E possibly damaging Het
Cep350 T G 1: 155,816,518 (GRCm39) K332N probably damaging Het
Cfap68 A G 9: 50,676,213 (GRCm39) V35A probably benign Het
Chd5 A G 4: 152,469,108 (GRCm39) N1811S probably benign Het
Chpf A T 1: 75,452,245 (GRCm39) V565D probably damaging Het
Clcn6 A T 4: 148,098,652 (GRCm39) L489H probably damaging Het
Cntln C A 4: 84,981,453 (GRCm39) T877K possibly damaging Het
Cog4 T C 8: 111,606,338 (GRCm39) V630A probably benign Het
Col6a5 G T 9: 105,758,630 (GRCm39) S2192* probably null Het
Cry2 G A 2: 92,243,983 (GRCm39) R397W probably damaging Het
Cstdc2 A C 2: 148,688,911 (GRCm39) C109W probably damaging Het
Cyp1b1 T C 17: 80,020,986 (GRCm39) N252S probably damaging Het
Dhx9 T C 1: 153,356,977 (GRCm39) I91V probably benign Het
Dnajb6 G A 5: 29,962,857 (GRCm39) A256T possibly damaging Het
Epm2a T G 10: 11,266,619 (GRCm39) Y121* probably null Het
Erlec1 T C 11: 30,900,818 (GRCm39) I117V possibly damaging Het
Exoc8 T C 8: 125,622,520 (GRCm39) M616V probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Fuz T C 7: 44,545,996 (GRCm39) L46P probably damaging Het
Insc T C 7: 114,444,278 (GRCm39) S422P possibly damaging Het
Intu A G 3: 40,651,981 (GRCm39) I813V probably benign Het
Jak3 T A 8: 72,133,362 (GRCm39) S352T probably benign Het
Klf11 T C 12: 24,705,490 (GRCm39) S315P probably benign Het
Lrrc63 T C 14: 75,358,453 (GRCm39) N400D possibly damaging Het
Lrrk1 T C 7: 65,940,602 (GRCm39) D760G probably damaging Het
Macf1 A T 4: 123,349,239 (GRCm39) L3976* probably null Het
Map7 C T 10: 20,137,605 (GRCm39) A259V probably damaging Het
Meioc T A 11: 102,565,063 (GRCm39) D170E possibly damaging Het
Mgat5b T A 11: 116,859,271 (GRCm39) Y34* probably null Het
Mgst1 A G 6: 138,127,842 (GRCm39) K68R probably benign Het
Miga1 T A 3: 152,043,683 (GRCm39) probably null Het
Mrps33 G A 6: 39,779,413 (GRCm39) P94L probably damaging Het
Ncapg2 G T 12: 116,414,033 (GRCm39) G1068C possibly damaging Het
Ndufaf7 C T 17: 79,249,546 (GRCm39) H148Y probably damaging Het
Nkx6-3 A T 8: 23,643,770 (GRCm39) D57V probably damaging Het
Nlrp1a T C 11: 70,983,150 (GRCm39) D1272G probably damaging Het
Oit3 T C 10: 59,265,392 (GRCm39) N291S probably damaging Het
Or1b1 A T 2: 36,995,181 (GRCm39) H160Q possibly damaging Het
Pld1 T G 3: 28,095,419 (GRCm39) S251A probably benign Het
Polr1h T A 17: 37,268,736 (GRCm39) L75F probably benign Het
Potefam3a C T 8: 20,356,948 (GRCm38) S254N unknown Het
Ppfibp1 T C 6: 146,921,001 (GRCm39) S580P probably benign Het
Prdx6b A T 2: 80,123,560 (GRCm39) D123V probably damaging Het
Rcc1 A C 4: 132,065,110 (GRCm39) S138A probably damaging Het
Rimbp3 G T 16: 17,031,065 (GRCm39) R1496S possibly damaging Het
Sacs T C 14: 61,429,054 (GRCm39) V371A probably benign Het
Sfxn4 A G 19: 60,830,642 (GRCm39) L260P possibly damaging Het
Slc17a1 G A 13: 24,062,466 (GRCm39) S211N possibly damaging Het
Slc39a11 C T 11: 113,452,918 (GRCm39) V8M probably damaging Het
Smpd2 A G 10: 41,365,012 (GRCm39) I78T probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Syt17 A T 7: 117,981,107 (GRCm39) V462E probably damaging Het
Tlr11 T A 14: 50,598,801 (GRCm39) D262E probably benign Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Trpv3 C A 11: 73,168,800 (GRCm39) Q87K probably benign Het
Ugt1a5 T C 1: 88,094,281 (GRCm39) Y170H probably benign Het
Urb1 A G 16: 90,584,296 (GRCm39) L562P probably damaging Het
Usp3 G T 9: 66,437,537 (GRCm39) N299K probably benign Het
Vmn1r83 T C 7: 12,055,556 (GRCm39) Y167C probably damaging Het
Vmn2r117 T A 17: 23,694,539 (GRCm39) Y436F probably benign Het
Vps13d A G 4: 144,854,981 (GRCm39) I2220T Het
Zfp936 T A 7: 42,836,685 (GRCm39) V32D probably damaging Het
Zswim2 A G 2: 83,751,063 (GRCm39) C259R 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
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'- GGTAGACCACGATGAAACCG -3'
(R):5'- AGTCAGCTCTGTACTGAATTAGAAC -3'

Sequencing Primer
(F):5'- ATGAAACCGTCATTGTCGGGC -3'
(R):5'- GCTCTGTACTGAATTAGAACTCAGG -3'
Posted On 2019-10-07