Incidental Mutation 'R6329:Ptprs'
ID 509436
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 044483-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6329 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56719426-56783480 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 56724427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1167 (Y1167*)
Ref Sequence ENSEMBL: ENSMUSP00000153134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223859]
AlphaFold B0V2N1
Predicted Effect probably null
Transcript: ENSMUST00000067538
AA Change: Y1577*
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: Y1577*

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: Y1171*
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: Y1171*

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 noncoding transcript
Transcript: ENSMUST00000184960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223685
Predicted Effect probably null
Transcript: ENSMUST00000223859
AA Change: Y1167*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224522
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,879,457 (GRCm39) H72R probably damaging Het
Abca13 A T 11: 9,227,937 (GRCm39) N660I probably damaging Het
Actr8 C T 14: 29,715,041 (GRCm39) R619* probably null Het
Adam18 C A 8: 25,104,843 (GRCm39) G657V probably damaging Het
Adcyap1 A G 17: 93,510,227 (GRCm39) E85G probably benign Het
Akr1c14 A G 13: 4,137,302 (GRCm39) Y305C probably damaging Het
Ankdd1b T A 13: 96,591,388 (GRCm39) H37L possibly damaging Het
Ap4e1 T C 2: 126,903,636 (GRCm39) L846P probably benign Het
Aqp9 A T 9: 71,039,966 (GRCm39) Y105* probably null Het
Arid1b C T 17: 5,387,538 (GRCm39) Q1664* probably null Het
Aup1 A G 6: 83,031,588 (GRCm39) probably benign Het
Bnip1 C A 17: 27,005,684 (GRCm39) S64* probably null Het
Calcr T A 6: 3,687,621 (GRCm39) Q422L probably damaging Het
Ccdc162 T A 10: 41,539,147 (GRCm39) D407V possibly damaging Het
Ccdc66 G T 14: 27,208,441 (GRCm39) S760R probably benign Het
Cd22 T A 7: 30,577,193 (GRCm39) E38V probably damaging Het
Cggbp1 T C 16: 64,676,383 (GRCm39) Y150H probably damaging Het
Chd3 T C 11: 69,252,510 (GRCm39) K263R possibly damaging Het
Col4a2 T A 8: 11,496,238 (GRCm39) F1620I probably damaging Het
Col6a2 T C 10: 76,435,662 (GRCm39) T858A probably benign Het
Dnah7a T A 1: 53,580,273 (GRCm39) D1554V probably damaging Het
Dnajc25 A T 4: 59,013,678 (GRCm39) Q132L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Ehbp1l1 A C 19: 5,768,795 (GRCm39) I836S possibly damaging Het
Elf1 A G 14: 79,810,779 (GRCm39) Q288R possibly damaging Het
Fbn1 C A 2: 125,150,393 (GRCm39) V2608L possibly damaging Het
Frmpd1 T C 4: 45,268,551 (GRCm39) I232T possibly damaging Het
Fuca1 T A 4: 135,662,137 (GRCm39) I355N probably damaging Het
Gcnt4 A G 13: 97,083,781 (GRCm39) D359G probably damaging Het
Gm5134 T C 10: 75,790,494 (GRCm39) M30T possibly damaging Het
Grk1 T G 8: 13,455,704 (GRCm39) L196R probably damaging Het
Igkv14-126 A C 6: 67,873,548 (GRCm39) D92A probably damaging Het
Kmt2c A G 5: 25,520,600 (GRCm39) S1837P probably benign Het
Lhx4 T A 1: 155,578,300 (GRCm39) T281S probably benign Het
Lrrc55 G T 2: 85,026,653 (GRCm39) H124N probably benign Het
Marchf8 T A 6: 116,383,277 (GRCm39) I566N possibly damaging Het
Mycbp2 G A 14: 103,393,288 (GRCm39) A3091V probably benign Het
Nlrp4b A G 7: 10,458,847 (GRCm39) N355S probably benign Het
Nmur2 A G 11: 55,920,411 (GRCm39) V278A probably benign Het
Nod1 T C 6: 54,921,689 (GRCm39) M210V probably benign Het
Nt5c1b T A 12: 10,422,138 (GRCm39) C63* probably null Het
Or1e1f A G 11: 73,855,568 (GRCm39) I45V possibly damaging Het
Or1j17 A T 2: 36,578,694 (GRCm39) K227* probably null Het
Or4g7 C T 2: 111,309,573 (GRCm39) A148V possibly damaging Het
Or5d37 G A 2: 87,924,008 (GRCm39) P91S probably damaging Het
Or7g21 A C 9: 19,032,253 (GRCm39) M1L probably benign Het
Or8b37 T C 9: 37,959,121 (GRCm39) V201A probably benign Het
Or8g24 C T 9: 38,989,199 (GRCm39) V281I probably benign Het
Osbp2 T A 11: 3,665,153 (GRCm39) S517C probably damaging Het
Pcdha1 C T 18: 37,065,301 (GRCm39) P655L probably damaging Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Perp G A 10: 18,731,502 (GRCm39) G154S probably damaging Het
Perp G T 10: 18,731,503 (GRCm39) G154V probably damaging Het
Pira13 T C 7: 3,825,850 (GRCm39) T340A probably damaging Het
Prokr1 T G 6: 87,558,774 (GRCm39) T204P possibly damaging Het
Prpf3 A T 3: 95,739,890 (GRCm39) C630S probably damaging Het
Pter C A 2: 12,985,359 (GRCm39) H230N probably damaging Het
Rad54l2 T C 9: 106,595,121 (GRCm39) I279V possibly damaging Het
Rora T A 9: 69,280,468 (GRCm39) L347Q probably damaging Het
Runx1t1 T G 4: 13,785,136 (GRCm39) M1R probably null Het
Sdcbp A G 4: 6,381,064 (GRCm39) S70G probably benign Het
Serpinb12 A G 1: 106,881,493 (GRCm39) Y210C probably damaging Het
Sipa1 T C 19: 5,701,517 (GRCm39) E1015G probably damaging Het
Slc15a2 A C 16: 36,572,144 (GRCm39) L740R possibly damaging Het
Specc1 A G 11: 62,047,379 (GRCm39) E916G probably damaging Het
Spta1 T C 1: 174,041,743 (GRCm39) I1371T possibly damaging Het
Tagln3 T C 16: 45,533,365 (GRCm39) M130V probably benign Het
Tchh A T 3: 93,353,752 (GRCm39) E1064V unknown Het
Tdp1 A T 12: 99,880,330 (GRCm39) S464C probably damaging Het
Tdp1 G C 12: 99,880,331 (GRCm39) S464T probably benign Het
Tenm3 T C 8: 48,729,884 (GRCm39) Y1374C probably damaging Het
Tmprss3 A T 17: 31,402,833 (GRCm39) Y455* probably null Het
Ttc5 A G 14: 51,003,385 (GRCm39) V433A possibly damaging Het
Wnt5a A T 14: 28,240,449 (GRCm39) R180* probably null Het
Zfp53 A G 17: 21,728,372 (GRCm39) D135G probably benign Het
Zfp619 T A 7: 39,186,969 (GRCm39) C1000S probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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'- GCAACAAAATCACCGGCATGTG -3'
(R):5'- CTGCGAAGAGTCAAGACCTG -3'

Sequencing Primer
(F):5'- ACTGTGGGAGTCAGTTTTCACACC -3'
(R):5'- CCATTGTGGTCCACTGCAG -3'
Posted On 2018-04-02