Incidental Mutation 'R5052:Ptprz1'
ID 394694
Institutional Source Beutler Lab
Gene Symbol Ptprz1
Ensembl Gene ENSMUSG00000068748
Gene Name protein tyrosine phosphatase receptor type Z, polypeptide 1
Synonyms DSD-1-PG, phosphacan, Ptprz, Ptpz, PTPzeta, Rptpbeta, RPTPz, PTPbeta
MMRRC Submission 042642-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R5052 (G1)
Quality Score 203
Status Validated
Chromosome 6
Chromosomal Location 22875501-23052915 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 23045625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 1283 (W1283G)
Ref Sequence ENSEMBL: ENSMUSP00000143902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090568] [ENSMUST00000202102]
AlphaFold B9EKR1
Predicted Effect probably damaging
Transcript: ENSMUST00000090568
AA Change: W2132G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088056
Gene: ENSMUSG00000068748
AA Change: W2132G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Carb_anhydrase 38 300 5.12e-99 SMART
FN3 312 397 5.53e-4 SMART
low complexity region 588 609 N/A INTRINSIC
low complexity region 825 837 N/A INTRINSIC
low complexity region 1417 1441 N/A INTRINSIC
low complexity region 1485 1495 N/A INTRINSIC
Blast:PTPc 1497 1573 1e-12 BLAST
low complexity region 1606 1620 N/A INTRINSIC
transmembrane domain 1637 1659 N/A INTRINSIC
low complexity region 1679 1693 N/A INTRINSIC
PTPc 1720 1991 2.8e-130 SMART
PTPc 2019 2281 1.65e-77 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200769
Predicted Effect probably damaging
Transcript: ENSMUST00000202102
AA Change: W1283G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143902
Gene: ENSMUSG00000068748
AA Change: W1283G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Carb_anhydrase 38 300 5.12e-99 SMART
FN3 312 397 5.53e-4 SMART
low complexity region 588 609 N/A INTRINSIC
transmembrane domain 788 810 N/A INTRINSIC
low complexity region 830 844 N/A INTRINSIC
PTPc 871 1142 2.8e-130 SMART
PTPc 1170 1432 1.65e-77 SMART
Meta Mutation Damage Score 0.9527 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 94.8%
  • 20x: 86.2%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for targeted null mutations demonstrate an impaired ability to recover from inflamatory lesions of the CNS or gastric mucosa. Mice homozygous for a knock-out allele exhibit increased tactile and thermal nociception thresholds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,563,162 (GRCm39) probably null Het
Adgrv1 T C 13: 81,676,940 (GRCm39) T1964A probably damaging Het
Agbl5 C T 5: 31,048,558 (GRCm39) T210I possibly damaging Het
Ak5 T C 3: 152,366,204 (GRCm39) T66A probably benign Het
Aktip G A 8: 91,856,279 (GRCm39) T66I possibly damaging Het
Aldh1l2 T C 10: 83,344,556 (GRCm39) Y330C possibly damaging Het
Btbd19 T G 4: 116,979,454 (GRCm39) K122Q possibly damaging Het
Cd180 A G 13: 102,841,403 (GRCm39) T150A probably benign Het
Celsr2 A G 3: 108,319,674 (GRCm39) I1046T probably damaging Het
Cep170 C T 1: 176,621,117 (GRCm39) R20Q probably damaging Het
Cercam T A 2: 29,765,639 (GRCm39) N260K probably damaging Het
Cfh T A 1: 140,071,782 (GRCm39) H284L probably damaging Het
Chmp5 A G 4: 40,948,608 (GRCm39) M1V probably null Het
Elp3 A T 14: 65,815,389 (GRCm39) I220N probably damaging Het
Esyt2 A G 12: 116,331,416 (GRCm39) T765A probably damaging Het
Evi5l T C 8: 4,256,019 (GRCm39) probably benign Het
Gm5866 T G 5: 52,740,234 (GRCm39) noncoding transcript Het
Grik1 C A 16: 87,746,986 (GRCm39) G417V probably benign Het
Gtpbp1 T G 15: 79,600,170 (GRCm39) I399R probably damaging Het
Il17rc T C 6: 113,449,284 (GRCm39) C14R probably damaging Het
Ipo9 T C 1: 135,316,349 (GRCm39) probably null Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Map3k15 T C X: 158,771,742 (GRCm39) V105A possibly damaging Het
Mitf A G 6: 97,987,406 (GRCm39) T320A possibly damaging Het
Ncapd3 T G 9: 26,963,015 (GRCm39) L440R probably damaging Het
Nrxn2 C G 19: 6,505,234 (GRCm39) A359G probably damaging Het
P2rx3 T G 2: 84,829,368 (GRCm39) I371L probably benign Het
Pde1b C A 15: 103,436,075 (GRCm39) Q493K possibly damaging Het
Ptpn13 T C 5: 103,709,846 (GRCm39) F1503S probably damaging Het
Rasd2 T A 8: 75,948,564 (GRCm39) D163E possibly damaging Het
Rgs11 A G 17: 26,426,947 (GRCm39) probably benign Het
Scap T C 9: 110,182,220 (GRCm39) I37T possibly damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Slc25a54 A G 3: 109,010,016 (GRCm39) I172V probably benign Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Tacc2 T A 7: 130,336,744 (GRCm39) D171E probably damaging Het
Tmco4 A G 4: 138,785,817 (GRCm39) E629G probably benign Het
Trav7-1 T G 14: 52,892,765 (GRCm39) L106R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Utf1 T C 7: 139,524,814 (GRCm39) probably benign Het
Zdhhc13 A G 7: 48,474,479 (GRCm39) N577S possibly damaging Het
Zmym6 A G 4: 127,017,767 (GRCm39) N1183D possibly damaging Het
Other mutations in Ptprz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Ptprz1 APN 6 22,973,053 (GRCm39) missense probably damaging 1.00
IGL00773:Ptprz1 APN 6 23,002,628 (GRCm39) missense probably benign 0.41
IGL01458:Ptprz1 APN 6 22,972,843 (GRCm39) missense probably damaging 0.99
IGL01481:Ptprz1 APN 6 22,999,979 (GRCm39) missense probably benign 0.05
IGL01501:Ptprz1 APN 6 22,973,081 (GRCm39) missense probably damaging 1.00
IGL01601:Ptprz1 APN 6 23,000,437 (GRCm39) missense probably damaging 0.99
IGL01882:Ptprz1 APN 6 23,000,463 (GRCm39) missense probably damaging 1.00
IGL02058:Ptprz1 APN 6 23,002,502 (GRCm39) missense probably benign 0.00
IGL02089:Ptprz1 APN 6 23,033,447 (GRCm39) missense probably damaging 1.00
IGL02136:Ptprz1 APN 6 22,972,821 (GRCm39) missense probably damaging 1.00
IGL02215:Ptprz1 APN 6 22,965,181 (GRCm39) missense possibly damaging 0.91
IGL02220:Ptprz1 APN 6 23,042,742 (GRCm39) splice site probably benign
IGL02556:Ptprz1 APN 6 22,972,844 (GRCm39) missense probably benign 0.01
IGL02601:Ptprz1 APN 6 23,000,686 (GRCm39) missense probably benign 0.11
IGL02620:Ptprz1 APN 6 22,959,739 (GRCm39) missense probably damaging 1.00
IGL02666:Ptprz1 APN 6 23,001,209 (GRCm39) missense probably benign 0.00
IGL02718:Ptprz1 APN 6 23,001,348 (GRCm39) missense possibly damaging 0.77
IGL02792:Ptprz1 APN 6 22,959,722 (GRCm39) missense probably damaging 1.00
IGL02894:Ptprz1 APN 6 23,035,148 (GRCm39) missense probably damaging 1.00
IGL02952:Ptprz1 APN 6 23,036,925 (GRCm39) missense probably damaging 1.00
IGL03003:Ptprz1 APN 6 23,002,582 (GRCm39) missense probably damaging 0.98
IGL03060:Ptprz1 APN 6 22,972,834 (GRCm39) missense probably damaging 1.00
IGL03170:Ptprz1 APN 6 22,959,766 (GRCm39) missense probably benign 0.00
IGL03246:Ptprz1 APN 6 22,986,159 (GRCm39) missense probably damaging 0.99
IGL03349:Ptprz1 APN 6 23,000,331 (GRCm39) missense probably damaging 1.00
IGL03365:Ptprz1 APN 6 23,030,581 (GRCm39) splice site probably benign
Elevator UTSW 6 23,030,661 (GRCm39) missense probably benign 0.03
escalator UTSW 6 22,986,187 (GRCm39) missense probably damaging 1.00
R0044:Ptprz1 UTSW 6 23,007,402 (GRCm39) missense probably damaging 1.00
R0054:Ptprz1 UTSW 6 22,986,195 (GRCm39) missense probably damaging 1.00
R0054:Ptprz1 UTSW 6 22,986,195 (GRCm39) missense probably damaging 1.00
R0107:Ptprz1 UTSW 6 23,000,569 (GRCm39) missense probably damaging 0.98
R0278:Ptprz1 UTSW 6 23,000,816 (GRCm39) missense probably benign 0.31
R0345:Ptprz1 UTSW 6 23,016,164 (GRCm39) missense probably damaging 1.00
R0359:Ptprz1 UTSW 6 22,973,175 (GRCm39) splice site probably benign
R0743:Ptprz1 UTSW 6 23,044,366 (GRCm39) nonsense probably null
R1014:Ptprz1 UTSW 6 23,000,643 (GRCm39) missense probably damaging 1.00
R1016:Ptprz1 UTSW 6 23,000,973 (GRCm39) missense probably damaging 1.00
R1106:Ptprz1 UTSW 6 22,965,748 (GRCm39) missense probably damaging 0.99
R1391:Ptprz1 UTSW 6 23,001,728 (GRCm39) missense probably benign 0.33
R1424:Ptprz1 UTSW 6 23,000,382 (GRCm39) missense probably benign 0.00
R1445:Ptprz1 UTSW 6 23,050,473 (GRCm39) missense probably damaging 1.00
R1496:Ptprz1 UTSW 6 23,049,523 (GRCm39) splice site probably benign
R1544:Ptprz1 UTSW 6 23,000,747 (GRCm39) missense possibly damaging 0.63
R1626:Ptprz1 UTSW 6 23,001,573 (GRCm39) missense probably benign
R1641:Ptprz1 UTSW 6 23,049,605 (GRCm39) missense probably damaging 1.00
R1757:Ptprz1 UTSW 6 23,044,319 (GRCm39) missense probably damaging 1.00
R1812:Ptprz1 UTSW 6 22,959,711 (GRCm39) missense probably benign 0.07
R1917:Ptprz1 UTSW 6 23,035,039 (GRCm39) splice site probably benign
R1930:Ptprz1 UTSW 6 23,007,354 (GRCm39) missense probably damaging 1.00
R1931:Ptprz1 UTSW 6 23,007,354 (GRCm39) missense probably damaging 1.00
R1974:Ptprz1 UTSW 6 22,986,310 (GRCm39) missense probably damaging 1.00
R1992:Ptprz1 UTSW 6 22,959,747 (GRCm39) missense probably benign 0.24
R1997:Ptprz1 UTSW 6 23,050,496 (GRCm39) missense probably damaging 0.99
R2002:Ptprz1 UTSW 6 23,027,833 (GRCm39) nonsense probably null
R2012:Ptprz1 UTSW 6 23,001,026 (GRCm39) missense probably benign 0.03
R2059:Ptprz1 UTSW 6 22,986,322 (GRCm39) splice site probably benign
R2061:Ptprz1 UTSW 6 23,049,674 (GRCm39) critical splice donor site probably null
R2064:Ptprz1 UTSW 6 23,050,388 (GRCm39) splice site probably benign
R2067:Ptprz1 UTSW 6 23,050,388 (GRCm39) splice site probably benign
R2108:Ptprz1 UTSW 6 23,033,476 (GRCm39) missense probably damaging 0.99
R2152:Ptprz1 UTSW 6 23,030,670 (GRCm39) missense probably damaging 0.99
R2166:Ptprz1 UTSW 6 23,045,632 (GRCm39) missense possibly damaging 0.90
R2183:Ptprz1 UTSW 6 23,002,284 (GRCm39) missense probably benign
R2202:Ptprz1 UTSW 6 23,000,649 (GRCm39) missense possibly damaging 0.63
R2238:Ptprz1 UTSW 6 22,987,376 (GRCm39) missense probably damaging 1.00
R2290:Ptprz1 UTSW 6 23,000,990 (GRCm39) missense probably damaging 1.00
R3027:Ptprz1 UTSW 6 23,016,196 (GRCm39) missense possibly damaging 0.89
R3861:Ptprz1 UTSW 6 23,036,894 (GRCm39) missense probably damaging 0.98
R4012:Ptprz1 UTSW 6 23,002,584 (GRCm39) missense probably damaging 0.99
R4020:Ptprz1 UTSW 6 22,959,623 (GRCm39) splice site probably benign
R4158:Ptprz1 UTSW 6 23,022,204 (GRCm39) missense possibly damaging 0.73
R4158:Ptprz1 UTSW 6 23,001,683 (GRCm39) nonsense probably null
R4159:Ptprz1 UTSW 6 23,001,683 (GRCm39) nonsense probably null
R4160:Ptprz1 UTSW 6 23,022,204 (GRCm39) missense possibly damaging 0.73
R4606:Ptprz1 UTSW 6 23,001,486 (GRCm39) missense possibly damaging 0.80
R4621:Ptprz1 UTSW 6 23,001,453 (GRCm39) missense possibly damaging 0.68
R4640:Ptprz1 UTSW 6 22,972,797 (GRCm39) missense probably damaging 1.00
R4731:Ptprz1 UTSW 6 23,002,609 (GRCm39) missense probably benign 0.06
R4732:Ptprz1 UTSW 6 23,002,609 (GRCm39) missense probably benign 0.06
R4733:Ptprz1 UTSW 6 23,002,609 (GRCm39) missense probably benign 0.06
R4803:Ptprz1 UTSW 6 23,001,545 (GRCm39) missense probably benign 0.00
R4890:Ptprz1 UTSW 6 23,024,957 (GRCm39) missense probably damaging 1.00
R5035:Ptprz1 UTSW 6 23,016,214 (GRCm39) missense probably benign 0.06
R5106:Ptprz1 UTSW 6 23,000,027 (GRCm39) missense probably benign 0.04
R5248:Ptprz1 UTSW 6 23,001,900 (GRCm39) missense probably benign 0.11
R5292:Ptprz1 UTSW 6 23,002,581 (GRCm39) missense probably benign 0.31
R5373:Ptprz1 UTSW 6 23,007,354 (GRCm39) missense probably damaging 1.00
R5374:Ptprz1 UTSW 6 23,007,354 (GRCm39) missense probably damaging 1.00
R5378:Ptprz1 UTSW 6 23,007,401 (GRCm39) missense probably damaging 1.00
R5408:Ptprz1 UTSW 6 23,002,599 (GRCm39) missense probably damaging 1.00
R5479:Ptprz1 UTSW 6 23,001,665 (GRCm39) missense probably benign
R5524:Ptprz1 UTSW 6 22,986,317 (GRCm39) splice site probably null
R5527:Ptprz1 UTSW 6 23,000,052 (GRCm39) missense possibly damaging 0.66
R5557:Ptprz1 UTSW 6 23,001,000 (GRCm39) missense probably benign 0.04
R5654:Ptprz1 UTSW 6 22,986,133 (GRCm39) missense probably damaging 1.00
R5655:Ptprz1 UTSW 6 22,999,772 (GRCm39) missense probably benign 0.00
R5658:Ptprz1 UTSW 6 23,016,188 (GRCm39) missense probably damaging 1.00
R5663:Ptprz1 UTSW 6 23,035,142 (GRCm39) missense probably damaging 1.00
R5765:Ptprz1 UTSW 6 23,000,235 (GRCm39) missense probably damaging 1.00
R5822:Ptprz1 UTSW 6 23,001,444 (GRCm39) missense probably benign 0.01
R5837:Ptprz1 UTSW 6 23,001,417 (GRCm39) missense probably benign 0.00
R6108:Ptprz1 UTSW 6 23,045,658 (GRCm39) missense probably damaging 1.00
R6199:Ptprz1 UTSW 6 23,002,470 (GRCm39) missense probably benign 0.01
R6245:Ptprz1 UTSW 6 23,051,989 (GRCm39) missense probably damaging 1.00
R6257:Ptprz1 UTSW 6 22,959,639 (GRCm39) missense probably damaging 1.00
R6488:Ptprz1 UTSW 6 23,001,516 (GRCm39) nonsense probably null
R6606:Ptprz1 UTSW 6 23,002,500 (GRCm39) missense probably benign 0.27
R6612:Ptprz1 UTSW 6 23,052,081 (GRCm39) missense probably damaging 1.00
R6824:Ptprz1 UTSW 6 23,002,130 (GRCm39) missense probably benign 0.05
R6834:Ptprz1 UTSW 6 22,999,632 (GRCm39) missense probably benign 0.38
R6836:Ptprz1 UTSW 6 23,030,664 (GRCm39) nonsense probably null
R6991:Ptprz1 UTSW 6 23,002,686 (GRCm39) missense probably benign 0.00
R7044:Ptprz1 UTSW 6 23,044,345 (GRCm39) missense probably damaging 1.00
R7048:Ptprz1 UTSW 6 22,961,622 (GRCm39) missense probably benign 0.18
R7225:Ptprz1 UTSW 6 23,000,928 (GRCm39) missense possibly damaging 0.61
R7284:Ptprz1 UTSW 6 23,000,097 (GRCm39) missense probably damaging 1.00
R7360:Ptprz1 UTSW 6 23,000,906 (GRCm39) missense probably damaging 1.00
R7501:Ptprz1 UTSW 6 23,001,746 (GRCm39) nonsense probably null
R7515:Ptprz1 UTSW 6 23,022,266 (GRCm39) missense probably damaging 1.00
R7538:Ptprz1 UTSW 6 22,999,895 (GRCm39) missense possibly damaging 0.81
R7567:Ptprz1 UTSW 6 22,959,779 (GRCm39) missense probably damaging 0.97
R7599:Ptprz1 UTSW 6 23,002,518 (GRCm39) missense not run
R7611:Ptprz1 UTSW 6 23,001,219 (GRCm39) missense probably benign
R7685:Ptprz1 UTSW 6 23,024,977 (GRCm39) missense probably damaging 1.00
R7707:Ptprz1 UTSW 6 23,002,295 (GRCm39) missense probably benign 0.00
R7733:Ptprz1 UTSW 6 23,000,383 (GRCm39) missense probably benign 0.31
R7786:Ptprz1 UTSW 6 23,036,992 (GRCm39) missense probably damaging 1.00
R7868:Ptprz1 UTSW 6 23,000,963 (GRCm39) missense not run
R7882:Ptprz1 UTSW 6 23,002,256 (GRCm39) missense probably benign 0.13
R7968:Ptprz1 UTSW 6 22,959,675 (GRCm39) missense probably damaging 0.98
R8024:Ptprz1 UTSW 6 23,042,750 (GRCm39) missense probably damaging 1.00
R8157:Ptprz1 UTSW 6 23,002,539 (GRCm39) missense probably damaging 1.00
R8159:Ptprz1 UTSW 6 23,001,662 (GRCm39) missense probably benign
R8354:Ptprz1 UTSW 6 22,999,614 (GRCm39) missense probably damaging 0.99
R8496:Ptprz1 UTSW 6 22,972,797 (GRCm39) missense probably damaging 0.96
R8757:Ptprz1 UTSW 6 22,972,716 (GRCm39) missense possibly damaging 0.74
R8767:Ptprz1 UTSW 6 22,986,187 (GRCm39) missense probably damaging 1.00
R8783:Ptprz1 UTSW 6 23,002,026 (GRCm39) missense probably benign 0.00
R8811:Ptprz1 UTSW 6 23,030,661 (GRCm39) missense probably benign 0.03
R8817:Ptprz1 UTSW 6 23,007,371 (GRCm39) missense probably damaging 1.00
R8822:Ptprz1 UTSW 6 23,002,588 (GRCm39) missense probably damaging 0.98
R8874:Ptprz1 UTSW 6 23,042,747 (GRCm39) missense
R9009:Ptprz1 UTSW 6 23,001,653 (GRCm39) missense possibly damaging 0.94
R9126:Ptprz1 UTSW 6 23,002,334 (GRCm39) nonsense probably null
R9201:Ptprz1 UTSW 6 22,972,869 (GRCm39) critical splice donor site probably null
R9210:Ptprz1 UTSW 6 23,050,493 (GRCm39) missense probably damaging 0.99
R9212:Ptprz1 UTSW 6 23,050,493 (GRCm39) missense probably damaging 0.99
R9229:Ptprz1 UTSW 6 22,986,283 (GRCm39) missense probably null 0.03
R9279:Ptprz1 UTSW 6 23,002,444 (GRCm39) missense probably benign
R9336:Ptprz1 UTSW 6 23,000,855 (GRCm39) missense probably benign 0.01
R9372:Ptprz1 UTSW 6 23,045,706 (GRCm39) missense probably damaging 1.00
R9577:Ptprz1 UTSW 6 23,002,202 (GRCm39) missense probably damaging 1.00
R9594:Ptprz1 UTSW 6 23,025,026 (GRCm39) missense probably damaging 0.98
R9632:Ptprz1 UTSW 6 23,007,292 (GRCm39) missense probably damaging 1.00
R9636:Ptprz1 UTSW 6 22,999,994 (GRCm39) missense probably benign
R9657:Ptprz1 UTSW 6 23,042,377 (GRCm39) missense possibly damaging 0.92
R9694:Ptprz1 UTSW 6 22,959,694 (GRCm39) missense probably damaging 1.00
R9716:Ptprz1 UTSW 6 22,959,650 (GRCm39) missense probably damaging 1.00
R9794:Ptprz1 UTSW 6 23,000,204 (GRCm39) missense probably benign 0.00
Z1176:Ptprz1 UTSW 6 23,051,994 (GRCm39) missense probably damaging 0.99
Z1177:Ptprz1 UTSW 6 23,052,023 (GRCm39) missense probably damaging 1.00
Z1177:Ptprz1 UTSW 6 22,999,839 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- TGCACCAAGAGCACAGAATG -3'
(R):5'- ACCCATGAGTAGAAGTGAAGTCC -3'

Sequencing Primer
(F):5'- CACAGAATGTCATGCGGTAATCTG -3'
(R):5'- GAGTAGAAGTGAAGTCCTTCCTC -3'
Posted On 2016-06-15