Incidental Mutation 'R3772:Ptprs'
ID 273392
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 040748-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3772 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56735978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 152 (T152A)
Ref Sequence ENSEMBL: ENSMUSP00000153398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223642] [ENSMUST00000225456] [ENSMUST00000223859]
AlphaFold B0V2N1
Predicted Effect probably benign
Transcript: ENSMUST00000067538
AA Change: T664A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: T664A

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
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236

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: ENSMUST00000223706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223783
Predicted Effect possibly damaging
Transcript: ENSMUST00000225456
AA Change: T152A

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225104
Predicted Effect probably benign
Transcript: ENSMUST00000223859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225785
Predicted Effect probably benign
Transcript: ENSMUST00000224777
Meta Mutation Damage Score 0.0650 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (77/77)
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
Abcb11 T A 2: 69,159,720 (GRCm39) probably benign Het
Adgrl1 A G 8: 84,649,633 (GRCm39) N97S possibly damaging Het
Aldh1a2 A G 9: 71,160,202 (GRCm39) D76G probably damaging Het
Aldh3a1 A G 11: 61,105,431 (GRCm39) E179G possibly damaging Het
Ap1g1 A G 8: 110,564,418 (GRCm39) D324G probably damaging Het
Arfgap2 A G 2: 91,095,711 (GRCm39) T12A probably benign Het
Aurka A G 2: 172,208,880 (GRCm39) L85P probably benign Het
Birc6 T A 17: 74,925,424 (GRCm39) probably benign Het
Bmp7 A T 2: 172,712,015 (GRCm39) I403N probably damaging Het
Carns1 A G 19: 4,220,915 (GRCm39) probably benign Het
Ccdc88c G A 12: 100,932,359 (GRCm39) probably benign Het
Ccl2 C T 11: 81,927,784 (GRCm39) A76V probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Clstn2 A G 9: 97,464,615 (GRCm39) I180T probably damaging Het
Col24a1 T C 3: 145,251,041 (GRCm39) L1680P probably damaging Het
Col4a6 C A X: 139,955,196 (GRCm39) G1416C probably damaging Het
Ctnna2 T G 6: 76,950,752 (GRCm39) N573T probably damaging Het
Cts8 G A 13: 61,398,715 (GRCm39) probably benign Het
Cxcl17 A G 7: 25,099,754 (GRCm39) probably benign Het
Defb18 T C 1: 18,306,845 (GRCm39) H37R possibly damaging Het
Dis3l2 T C 1: 86,782,130 (GRCm39) I229T probably benign Het
Dysf G A 6: 84,129,333 (GRCm39) S1474N possibly damaging Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
F13a1 T C 13: 37,082,108 (GRCm39) K532R probably benign Het
Fmn1 T G 2: 113,412,463 (GRCm39) S996A probably damaging Het
Focad A C 4: 88,254,398 (GRCm39) probably benign Het
Frmd4a A T 2: 4,595,433 (GRCm39) E109D probably damaging Het
Frrs1 T G 3: 116,672,036 (GRCm39) S45A possibly damaging Het
Gm5422 T A 10: 31,124,510 (GRCm39) noncoding transcript Het
Gm5866 T C 5: 52,740,088 (GRCm39) noncoding transcript Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Iglon5 A T 7: 43,130,037 (GRCm39) Y42* probably null Het
Khdrbs2 C T 1: 32,283,157 (GRCm39) Q90* probably null Het
Krt74 T C 15: 101,670,630 (GRCm39) noncoding transcript Het
Lamc2 T A 1: 152,999,997 (GRCm39) M1121L probably benign Het
Lrig1 A G 6: 94,582,798 (GRCm39) L1073P probably benign Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Man2c1 C A 9: 57,047,661 (GRCm39) probably benign Het
Megf10 G A 18: 57,416,934 (GRCm39) D768N probably benign Het
Mycbp2 T C 14: 103,371,224 (GRCm39) N4108S possibly damaging Het
Nid1 A G 13: 13,651,003 (GRCm39) probably benign Het
Nnt A G 13: 119,533,488 (GRCm39) V59A probably damaging Het
Nsd1 G A 13: 55,394,486 (GRCm39) V696I probably benign Het
Or1o4 T C 17: 37,590,745 (GRCm39) T189A probably benign Het
Pag1 G A 3: 9,764,688 (GRCm39) T155M probably benign Het
Pgam5 T C 5: 110,413,459 (GRCm39) H176R probably damaging Het
Pid1 T C 1: 84,015,918 (GRCm39) D149G probably damaging Het
Pkp3 G A 7: 140,662,259 (GRCm39) M1I probably null Het
Pld2 C T 11: 70,434,949 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab9b T A X: 135,762,198 (GRCm39) E67D probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf214 T C 9: 45,777,932 (GRCm39) M625V possibly damaging Het
Rwdd2a A C 9: 86,456,214 (GRCm39) N130T possibly damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Septin10 A T 10: 59,012,709 (GRCm39) M303K probably damaging Het
Sez6l2 A G 7: 126,558,375 (GRCm39) E339G probably damaging Het
Sf3b1 C A 1: 55,039,150 (GRCm39) probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
St18 A T 1: 6,914,553 (GRCm39) K799I probably damaging Het
Strada C T 11: 106,055,648 (GRCm39) R333Q probably damaging Het
Stradb A T 1: 59,024,544 (GRCm39) I64L probably benign Het
Sun1 A G 5: 139,224,575 (GRCm39) probably benign Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tenm4 A T 7: 96,344,087 (GRCm39) R227W probably damaging Het
Tnk2 A G 16: 32,498,640 (GRCm39) D651G probably damaging Het
Trim43c A T 9: 88,729,810 (GRCm39) D417V probably damaging Het
Tsc22d4 T C 5: 137,757,495 (GRCm39) L374P possibly damaging Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ubr4 T C 4: 139,180,011 (GRCm39) V262A possibly damaging Het
Vmn2r60 A T 7: 41,765,980 (GRCm39) N29I probably benign Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zbed4 C T 15: 88,664,990 (GRCm39) P353S probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zwilch A T 9: 64,063,316 (GRCm39) F286I 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
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'- CAGAGCACCTAAGACTCAGGAG -3'
(R):5'- CCCCTCAAGACGTTAAGTGC -3'

Sequencing Primer
(F):5'- AACTTCGAGGCCAGCTTG -3'
(R):5'- ACGTTAAGTGCACCAGCTTG -3'
Posted On 2015-03-25