Incidental Mutation 'R8970:Ptprs'
ID 683044
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 068804-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8970 (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 56730353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1174 (S1174P)
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: S1174P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: S1174P

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: S768P

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: S768P

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: S768P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000224777
Predicted Effect probably benign
Transcript: ENSMUST00000225456
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,545,726 (GRCm39) V467A probably damaging Het
Abca2 T C 2: 25,335,728 (GRCm39) V2113A probably benign Het
Adam10 A G 9: 70,655,458 (GRCm39) N309D probably benign Het
Adcy1 T A 11: 7,099,983 (GRCm39) W698R probably benign Het
Adnp T C 2: 168,031,290 (GRCm39) N7S possibly damaging Het
Ankar A G 1: 72,691,496 (GRCm39) probably null Het
Ankrd34b T A 13: 92,575,590 (GRCm39) I274K probably benign Het
Apela A T 8: 65,489,601 (GRCm39) L6H unknown Het
Ash1l T C 3: 88,976,307 (GRCm39) I2629T probably benign Het
Auts2 C T 5: 132,287,791 (GRCm39) R64K possibly damaging Het
Bms1 A G 6: 118,369,292 (GRCm39) V1003A possibly damaging Het
C2cd3 T C 7: 100,068,971 (GRCm39) V555A Het
C2cd6 T A 1: 59,108,895 (GRCm39) H252L possibly damaging Het
Capn3 G T 2: 120,294,566 (GRCm39) K71N possibly damaging Het
Chct1 A G 11: 85,069,246 (GRCm39) E198G probably benign Het
Clec2l C A 6: 38,657,122 (GRCm39) T195K possibly damaging Het
Col27a1 T C 4: 63,134,105 (GRCm39) S15P unknown Het
Coro2b T C 9: 62,333,809 (GRCm39) probably benign Het
Crocc2 A T 1: 93,116,687 (GRCm39) T233S probably benign Het
Ddb1 A G 19: 10,585,808 (GRCm39) Q174R probably benign Het
Denr C T 5: 124,055,279 (GRCm39) P48L probably damaging Het
Dusp26 A G 8: 31,584,232 (GRCm39) Y113C probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Evi5l A G 8: 4,236,154 (GRCm39) probably benign Het
Fgf2 G T 3: 37,458,767 (GRCm39) V96F probably benign Het
Gpr139 A G 7: 118,744,034 (GRCm39) Y184H probably damaging Het
Gtf3c1 A C 7: 125,272,227 (GRCm39) probably benign Het
Gucy1b2 A G 14: 62,656,664 (GRCm39) V231A possibly damaging Het
Gucy2g T C 19: 55,191,478 (GRCm39) E991G possibly damaging Het
Gvin1 A T 7: 105,762,647 (GRCm39) H607Q probably damaging Het
Hal T C 10: 93,325,036 (GRCm39) V15A probably damaging Het
Hes3 A G 4: 152,376,036 (GRCm39) probably null Het
Il11 A G 7: 4,779,181 (GRCm39) L72P probably damaging Het
Iqsec3 T A 6: 121,366,528 (GRCm39) I785F probably damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Lrpprc T A 17: 85,074,483 (GRCm39) T475S probably damaging Het
Lrrc63 T A 14: 75,362,631 (GRCm39) T300S unknown Het
Lsamp A T 16: 41,994,528 (GRCm39) I331F possibly damaging Het
Ltn1 A T 16: 87,212,926 (GRCm39) I545K probably benign Het
Mab21l4 G C 1: 93,087,533 (GRCm39) P107A probably benign Het
Med13l G A 5: 118,883,164 (GRCm39) R1341H probably damaging Het
Msh4 T A 3: 153,575,369 (GRCm39) K669* probably null Het
Myo10 T A 15: 25,803,467 (GRCm39) L1558H possibly damaging Het
Ncbp1 G A 4: 46,170,023 (GRCm39) V699M probably damaging Het
Or12k8 T A 2: 36,975,478 (GRCm39) Y94F probably benign Het
Or56b1b A G 7: 108,164,997 (GRCm39) S2P probably benign Het
Or5b114-ps1 T G 19: 13,353,117 (GRCm39) S264A unknown Het
Or5b99 T A 19: 12,976,353 (GRCm39) M1K probably null Het
Parpbp G A 10: 87,962,186 (GRCm39) R165W probably damaging Het
Pcdhgb7 T A 18: 37,885,631 (GRCm39) M267K probably benign Het
Pitx3 T A 19: 46,125,540 (GRCm39) H68L possibly damaging Het
Ppfia4 A G 1: 134,252,289 (GRCm39) L395P probably damaging Het
Pramel42 T C 5: 94,685,645 (GRCm39) V435A probably benign Het
Ptprh T C 7: 4,583,944 (GRCm39) D216G possibly damaging Het
Shf A G 2: 122,187,654 (GRCm39) S51P probably benign Het
Sinhcaf A T 6: 148,834,624 (GRCm39) F2I probably damaging Het
Slc19a3 A T 1: 83,000,822 (GRCm39) L65Q probably damaging Het
Srgap2 G A 1: 131,226,104 (GRCm39) L390F Het
Srpk1 T C 17: 28,818,493 (GRCm39) T448A probably benign Het
Stat5a A G 11: 100,771,353 (GRCm39) D612G probably benign Het
Supt4a A T 11: 87,633,645 (GRCm39) E67V probably benign Het
Tango6 T A 8: 107,415,871 (GRCm39) C231S probably damaging Het
Th A G 7: 142,446,796 (GRCm39) L490P probably damaging Het
Tpcn1 C T 5: 120,682,518 (GRCm39) G497S probably damaging Het
Trim10 A T 17: 37,184,168 (GRCm39) I254F probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vmn2r56 T C 7: 12,428,632 (GRCm39) R545G probably damaging Het
Vmn2r84 T C 10: 130,222,244 (GRCm39) T659A probably damaging Het
Vps13c T C 9: 67,852,803 (GRCm39) M2361T probably benign Het
Zfp217 T C 2: 169,956,997 (GRCm39) D667G possibly damaging Het
Zfp952 T G 17: 33,221,810 (GRCm39) C96W probably benign Het
Zfp959 A G 17: 56,204,836 (GRCm39) Q291R possibly damaging Het
Zscan4-ps3 T C 7: 11,344,414 (GRCm39) V124A probably benign 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
R8911:Ptprs UTSW 17 56,730,320 (GRCm39) missense probably benign 0.07
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'- CGAGGACTTACAGGCTCATTCTTC -3'
(R):5'- ATGGTCCCACTTCGGAAGTC -3'

Sequencing Primer
(F):5'- TCATTCTTCTGCAACACAGCAAG -3'
(R):5'- CTGTCCTACTAGGTAGTCCAGAG -3'
Posted On 2021-10-11