Incidental Mutation 'R7903:Ptprs'
ID 610120
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 045955-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7903 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 56731960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 1016 (K1016*)
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 probably null
Transcript: ENSMUST00000067538
AA Change: K1016*
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: K1016*

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 null
Transcript: ENSMUST00000086828
AA Change: K610*
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: K610*

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 null
Transcript: ENSMUST00000223859
AA Change: K610*
Predicted Effect probably null
Transcript: ENSMUST00000224777
AA Change: K64*
Predicted Effect probably benign
Transcript: ENSMUST00000225456
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik T C 18: 24,608,783 (GRCm39) probably null Het
Acsm2 A T 7: 119,195,215 (GRCm39) T596S probably benign Het
Aggf1 T C 13: 95,492,966 (GRCm39) K548E probably damaging Het
Anapc15 T G 7: 101,547,193 (GRCm39) V23G probably benign Het
Atp10a T C 7: 58,308,570 (GRCm39) L123P probably damaging Het
Brf2 G A 8: 27,616,121 (GRCm39) T88M possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccdc14 A T 16: 34,525,280 (GRCm39) H191L probably damaging Het
Cdc42bpg T A 19: 6,363,499 (GRCm39) V453E possibly damaging Het
Corin T C 5: 72,458,843 (GRCm39) K1110E probably benign Het
Cubn T C 2: 13,473,680 (GRCm39) D421G probably damaging Het
D130043K22Rik T G 13: 25,059,995 (GRCm39) V622G probably damaging Het
Ddb1 T C 19: 10,585,712 (GRCm39) V142A probably benign Het
Dnah3 A G 7: 119,641,351 (GRCm39) S1190P probably damaging Het
Eif4a3l2 A G 6: 116,528,212 (GRCm39) T30A probably benign Het
Elavl1 T C 8: 4,351,756 (GRCm39) K120R probably benign Het
Epb41l3 T A 17: 69,581,332 (GRCm39) probably null Het
Fubp1 G A 3: 151,920,498 (GRCm39) W79* probably null Het
Gsto2 T A 19: 47,873,096 (GRCm39) I157N possibly damaging Het
Gucy2d A G 7: 98,108,272 (GRCm39) D735G probably damaging Het
H2-D1 A T 17: 35,482,967 (GRCm39) I166F probably damaging Het
Hars2 C A 18: 36,919,245 (GRCm39) R128S probably damaging Het
Igf1r T C 7: 67,834,500 (GRCm39) F496S probably damaging Het
Inf2 T C 12: 112,578,988 (GRCm39) V1256A unknown Het
Kif19b T C 5: 140,461,767 (GRCm39) V523A probably damaging Het
Krt34 A T 11: 99,932,321 (GRCm39) M1K probably null Het
Lamtor2 T C 3: 88,459,817 (GRCm39) N26D possibly damaging Het
Map3k10 T C 7: 27,357,382 (GRCm39) T799A probably damaging Het
Map3k8 T C 18: 4,349,162 (GRCm39) D52G probably benign Het
Mcm10 T C 2: 5,000,613 (GRCm39) T693A probably benign Het
Mgarp G T 3: 51,304,119 (GRCm39) A10E Het
Mns1 A T 9: 72,360,093 (GRCm39) E414D probably benign Het
Myo16 A G 8: 10,426,265 (GRCm39) S341G probably null Het
Nags A T 11: 102,037,503 (GRCm39) D198V possibly damaging Het
Nedd4l C T 18: 65,319,438 (GRCm39) P464S probably damaging Het
Nicol1 T A 5: 34,140,910 (GRCm39) probably null Het
Nsfl1c T C 2: 151,338,522 (GRCm39) Y42H probably damaging Het
Obscn T C 11: 58,969,942 (GRCm39) M67V probably benign Het
Or2b28 T A 13: 21,532,046 (GRCm39) I316K probably benign Het
Pcsk5 A T 19: 17,549,847 (GRCm39) L715Q probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Pfkfb4 A T 9: 108,828,019 (GRCm39) N64Y probably damaging Het
Pidd1 A G 7: 141,019,744 (GRCm39) F673L probably damaging Het
Pla2g7 A G 17: 43,911,512 (GRCm39) probably null Het
Pml T C 9: 58,156,867 (GRCm39) E36G probably benign Het
Proser1 C A 3: 53,386,503 (GRCm39) S795* probably null Het
Rbfox1 T A 16: 7,042,375 (GRCm39) S76R probably benign Het
Reck A T 4: 43,927,166 (GRCm39) I486F possibly damaging Het
Rnf103 A T 6: 71,486,138 (GRCm39) K256N probably damaging Het
Setd2 A T 9: 110,446,905 (GRCm39) N713I Het
Slc38a4 C T 15: 96,906,809 (GRCm39) G310S probably benign Het
Slc7a4 C T 16: 17,393,145 (GRCm39) R218H probably benign Het
Slc7a7 T C 14: 54,611,366 (GRCm39) H344R probably damaging Het
Smarcc1 G A 9: 110,033,334 (GRCm39) E810K probably benign Het
Sord T A 2: 122,093,706 (GRCm39) M275K probably benign Het
Spire2 C A 8: 124,095,489 (GRCm39) P631T probably benign Het
Sult6b1 T C 17: 79,198,279 (GRCm39) K207R probably benign Het
Syde2 T A 3: 145,704,543 (GRCm39) D498E probably damaging Het
Syne2 C T 12: 76,110,958 (GRCm39) T1024M probably damaging Het
Tdrd9 T A 12: 112,018,410 (GRCm39) D1276E possibly damaging Het
Tm7sf2 A G 19: 6,121,365 (GRCm39) F219S probably damaging Het
Tmcc2 C T 1: 132,288,199 (GRCm39) G496D probably benign Het
Tmtc4 G A 14: 123,165,060 (GRCm39) H600Y probably benign Het
Vmn1r224 A T 17: 20,640,309 (GRCm39) L295F probably benign Het
Vmn1r91 T C 7: 19,835,135 (GRCm39) I18T possibly damaging Het
Vwa7 G A 17: 35,236,763 (GRCm39) R110H probably damaging Het
Wbp2nl C T 15: 82,190,332 (GRCm39) Q87* 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
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
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'- TCGAATCCTGATCTGGGGTG -3'
(R):5'- CCATCATCAAGTACACGGTGTC -3'

Sequencing Primer
(F):5'- GGCCTTGACTGTGCCCAATC -3'
(R):5'- ACAGGTAAGTCTCGGCCTC -3'
Posted On 2019-12-20