Incidental Mutation 'R1474:Ptprs'
ID 163965
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 039527-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1474 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56731128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 687 (A687S)
Ref Sequence ENSEMBL: ENSMUSP00000153134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223642] [ENSMUST00000223859] [ENSMUST00000225456]
AlphaFold B0V2N1
Predicted Effect possibly damaging
Transcript: ENSMUST00000067538
AA Change: A1093S

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: A1093S

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: A687S

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: A687S

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: ENSMUST00000223706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223783
Predicted Effect unknown
Transcript: ENSMUST00000224777
AA Change: A141S
Predicted Effect probably damaging
Transcript: ENSMUST00000223859
AA Change: A687S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000225456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225785
Meta Mutation Damage Score 0.1814 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 95% (104/110)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C A 11: 109,960,635 (GRCm39) A628S probably damaging Het
Abca9 T C 11: 110,036,405 (GRCm39) N568S probably damaging Het
Ada C T 2: 163,574,814 (GRCm39) A108T possibly damaging Het
Adam6a T A 12: 113,508,069 (GRCm39) D147E possibly damaging Het
Ampd1 A T 3: 103,006,154 (GRCm39) T655S probably damaging Het
Ankk1 A G 9: 49,327,139 (GRCm39) F680S probably damaging Het
Asap1 G A 15: 63,991,869 (GRCm39) T783I probably benign Het
Astn1 T A 1: 158,329,923 (GRCm39) N259K probably damaging Het
Birc6 T C 17: 74,886,673 (GRCm39) V667A probably damaging Het
Brat1 G A 5: 140,698,382 (GRCm39) V185I probably benign Het
Btnl6 T C 17: 34,732,620 (GRCm39) Y318C probably damaging Het
Caskin2 G A 11: 115,694,522 (GRCm39) P360S probably benign Het
Ccdc121rt3 T C 5: 112,503,642 (GRCm39) T21A probably benign Het
Cd68 T A 11: 69,555,754 (GRCm39) probably benign Het
Cdca2 T C 14: 67,952,355 (GRCm39) probably benign Het
Cdk6 G A 5: 3,523,217 (GRCm39) M212I probably benign Het
Ceacam5 T A 7: 17,481,159 (GRCm39) F302Y probably damaging Het
Celsr2 T C 3: 108,301,055 (GRCm39) E2746G possibly damaging Het
Clec4a4 G A 6: 122,989,703 (GRCm39) V115I probably benign Het
Clip3 C A 7: 29,998,307 (GRCm39) A251E possibly damaging Het
Cmah T C 13: 24,623,180 (GRCm39) L350P probably damaging Het
Cntnap5a C T 1: 116,370,103 (GRCm39) R907* probably null Het
Cntnap5b T C 1: 99,999,814 (GRCm39) Y191H probably benign Het
Col4a4 A T 1: 82,458,207 (GRCm39) C1122* probably null Het
Coq5 A G 5: 115,433,842 (GRCm39) probably benign Het
Cpxcr1 A G X: 115,387,136 (GRCm39) K16E possibly damaging Het
Dclk3 T C 9: 111,298,304 (GRCm39) I616T probably benign Het
Dhrs3 A T 4: 144,646,057 (GRCm39) T122S probably damaging Het
Dnm1 T C 2: 32,210,596 (GRCm39) I502V probably benign Het
Dscaml1 G T 9: 45,596,519 (GRCm39) G788W probably damaging Het
Dusp10 C T 1: 183,769,645 (GRCm39) probably null Het
Ehbp1l1 C A 19: 5,769,112 (GRCm39) L730F possibly damaging Het
Eif2ak1 C T 5: 143,808,785 (GRCm39) H75Y probably damaging Het
Evi2a T C 11: 79,418,398 (GRCm39) T71A probably benign Het
Fam184a A T 10: 53,511,461 (GRCm39) S1073T probably damaging Het
Fam227a T C 15: 79,499,582 (GRCm39) Y591C probably damaging Het
Fam83a C T 15: 57,873,272 (GRCm39) T367M probably benign Het
Fam83g A G 11: 61,593,819 (GRCm39) D451G probably damaging Het
Fbn1 A G 2: 125,203,185 (GRCm39) F1213L possibly damaging Het
Fcgbp G A 7: 27,791,273 (GRCm39) V845I probably benign Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Foxn1 T A 11: 78,251,933 (GRCm39) M433L probably benign Het
Gm6632 T G 5: 59,211,679 (GRCm39) noncoding transcript Het
Gnl3 A T 14: 30,738,418 (GRCm39) probably benign Het
Hhipl1 C T 12: 108,277,996 (GRCm39) T108I probably damaging Het
Hs2st1 A T 3: 144,141,256 (GRCm39) F271I possibly damaging Het
Ido1 T C 8: 25,074,462 (GRCm39) S303G probably damaging Het
Ints2 C T 11: 86,117,607 (GRCm39) R705H probably damaging Het
Kcnc2 A G 10: 112,292,305 (GRCm39) K49E probably damaging Het
Kif3b T A 2: 153,162,235 (GRCm39) V482E probably damaging Het
Ldlrad2 G A 4: 137,299,525 (GRCm39) P100S probably benign Het
Lrba G T 3: 86,687,573 (GRCm39) probably benign Het
Lsm11 A T 11: 45,824,730 (GRCm39) W266R probably benign Het
Mob3a A T 10: 80,522,988 (GRCm39) M215K probably benign Het
Mterf1b T G 5: 4,247,163 (GRCm39) L268R probably damaging Het
Mvk T C 5: 114,598,157 (GRCm39) F365L probably damaging Het
Myo16 T A 8: 10,552,796 (GRCm39) F945I probably damaging Het
Myo1f G T 17: 33,813,001 (GRCm39) K602N possibly damaging Het
Nr2c2ap A T 8: 70,585,765 (GRCm39) M108L probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Ogfrl1 A G 1: 23,414,890 (GRCm39) F206L probably damaging Het
Ola1 A T 2: 72,987,188 (GRCm39) I148N probably damaging Het
Or14c46 G T 7: 85,918,270 (GRCm39) H242Q probably damaging Het
Or4d10b T A 19: 12,036,844 (GRCm39) T91S probably benign Het
Or51f1d A G 7: 102,701,288 (GRCm39) Y261C probably damaging Het
Or6c2 A T 10: 129,362,824 (GRCm39) M243L probably benign Het
Or9m2 A G 2: 87,821,334 (GRCm39) N293S probably damaging Het
Otof A G 5: 30,536,876 (GRCm39) probably null Het
Pah G T 10: 87,414,175 (GRCm39) K341N probably damaging Het
Pfdn5 T A 15: 102,236,946 (GRCm39) probably null Het
Piezo2 A G 18: 63,216,202 (GRCm39) C960R probably damaging Het
Pitx2 T C 3: 129,012,488 (GRCm39) V306A probably damaging Het
Pkd1l2 C A 8: 117,792,236 (GRCm39) probably benign Het
Plekho1 T C 3: 95,896,878 (GRCm39) E197G probably damaging Het
Polr2i A G 7: 29,932,227 (GRCm39) N34S probably damaging Het
Psph A T 5: 129,848,614 (GRCm39) D22E probably damaging Het
Ralgapa1 T C 12: 55,788,265 (GRCm39) K606R probably benign Het
Rigi A G 4: 40,208,868 (GRCm39) V703A possibly damaging Het
Rims1 A G 1: 22,577,362 (GRCm39) probably benign Het
Rnf213 C T 11: 119,328,576 (GRCm39) P2002L probably damaging Het
Ryr3 A T 2: 112,740,307 (GRCm39) C555S probably damaging Het
Sftpd C A 14: 40,894,384 (GRCm39) G345V probably damaging Het
Slc41a1 T A 1: 131,774,319 (GRCm39) M462K probably damaging Het
Slc44a2 A G 9: 21,264,990 (GRCm39) E676G probably damaging Het
Sox6 T A 7: 115,300,926 (GRCm39) probably benign Het
Spdye4b G A 5: 143,181,472 (GRCm39) R109Q probably damaging Het
Spef1l C A 7: 139,556,555 (GRCm39) R144L probably benign Het
Spink8 A T 9: 109,649,706 (GRCm39) I63L probably damaging Het
St3gal3 A G 4: 117,871,983 (GRCm39) L73P probably damaging Het
Stab1 A G 14: 30,871,818 (GRCm39) L1247P probably benign Het
Tat A G 8: 110,718,195 (GRCm39) R27G probably benign Het
Tcerg1l C T 7: 137,881,804 (GRCm39) R295H probably damaging Het
Tfrc T C 16: 32,445,467 (GRCm39) V596A probably damaging Het
Tgfb3 C T 12: 86,116,120 (GRCm39) probably null Het
Tmed5 A T 5: 108,280,248 (GRCm39) S15T probably benign Het
Tph1 A T 7: 46,303,286 (GRCm39) S231T probably benign Het
Trim30d G A 7: 104,121,701 (GRCm39) S198L probably damaging Het
Trpm6 T C 19: 18,773,859 (GRCm39) M412T probably benign Het
Ttn G T 2: 76,612,589 (GRCm39) D15417E probably benign Het
U2surp A G 9: 95,375,251 (GRCm39) I157T possibly damaging Het
Ubr4 A G 4: 139,156,890 (GRCm39) D2305G probably damaging Het
Uvssa A G 5: 33,546,165 (GRCm39) K179E probably benign Het
Vps35l T C 7: 118,359,436 (GRCm39) F230S probably damaging Het
Xirp2 A G 2: 67,355,411 (GRCm39) K3391E probably benign Het
Xpo7 T A 14: 70,936,473 (GRCm39) H170L probably benign Het
Zrsr2-ps1 T C 11: 22,924,404 (GRCm39) W393R 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
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
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'- CACATAGTGGGTTGACAGCTACAGG -3'
(R):5'- ATCCAGAAGTGAGGCTCAGTCAGG -3'

Sequencing Primer
(F):5'- TTGACAGCTACAGGGACAGG -3'
(R):5'- TTGGTCCAGGACAGGCAG -3'
Posted On 2014-03-28