Incidental Mutation 'R5658:Ptprz1'
ID 443925
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 043172-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R5658 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 22875501-23052915 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23016188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1677 (R1677Q)
Ref Sequence ENSEMBL: ENSMUSP00000088056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090568] [ENSMUST00000202102]
AlphaFold B9EKR1
Predicted Effect probably damaging
Transcript: ENSMUST00000090568
AA Change: R1677Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088056
Gene: ENSMUSG00000068748
AA Change: R1677Q

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 probably damaging
Transcript: ENSMUST00000202102
AA Change: R828Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143902
Gene: ENSMUSG00000068748
AA Change: R828Q

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,644 (GRCm39) L221P probably damaging Het
Art2b A G 7: 101,229,569 (GRCm39) V110A probably damaging Het
Bccip A G 7: 133,319,349 (GRCm39) I147V possibly damaging Het
Bcl9l G T 9: 44,420,466 (GRCm39) G1254W probably damaging Het
Cep68 C T 11: 20,191,885 (GRCm39) probably null Het
Chst5 A G 8: 112,617,422 (GRCm39) V66A probably damaging Het
F5 C A 1: 164,019,907 (GRCm39) T794K probably damaging Het
Faf2 T C 13: 54,789,347 (GRCm39) V55A probably benign Het
Gm7535 T A 17: 18,131,582 (GRCm39) probably benign Het
Itpr3 T C 17: 27,326,852 (GRCm39) V1471A possibly damaging Het
Kbtbd4 T A 2: 90,736,423 (GRCm39) S145T probably benign Het
Kcnh3 C T 15: 99,139,957 (GRCm39) P948S possibly damaging Het
Kcnq1 G A 7: 142,917,432 (GRCm39) probably null Het
Kng2 T C 16: 22,815,770 (GRCm39) probably null Het
Krt9 A G 11: 100,081,593 (GRCm39) I312T probably damaging Het
Lactb2 T A 1: 13,697,642 (GRCm39) H254L probably benign Het
Lama5 A T 2: 179,850,069 (GRCm39) Y187* probably null Het
Ldc1 A G 4: 130,114,234 (GRCm39) V61A probably benign Het
Maf1 T C 15: 76,237,420 (GRCm39) V154A possibly damaging Het
Mlh1 A G 9: 111,076,448 (GRCm39) V303A probably damaging Het
Mrgprh A T 17: 13,096,646 (GRCm39) K295N possibly damaging Het
Mtrr G T 13: 68,717,034 (GRCm39) A393D possibly damaging Het
Myef2l C T 3: 10,153,837 (GRCm39) S202F probably damaging Het
Nebl A G 2: 17,353,663 (GRCm39) Y963H probably damaging Het
Ormdl1 T C 1: 53,348,093 (GRCm39) V145A probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Pmpcb A G 5: 21,943,999 (GRCm39) T78A probably damaging Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,631,191 (GRCm39) probably benign Het
Ryr1 A T 7: 28,790,514 (GRCm39) probably null Het
Sh3bp2 T A 5: 34,714,291 (GRCm39) I162N probably damaging Het
Slc38a10 C T 11: 119,996,218 (GRCm39) A960T probably benign Het
Sntb1 C T 15: 55,655,472 (GRCm39) C248Y probably damaging Het
Sowahc G A 10: 59,059,049 (GRCm39) R395H possibly damaging Het
Tbc1d5 T C 17: 51,120,869 (GRCm39) R416G probably benign Het
Tnfaip6 A T 2: 51,941,047 (GRCm39) Y196F possibly damaging Het
Tpo A G 12: 30,105,137 (GRCm39) L911P possibly damaging Het
Try5 T C 6: 41,289,361 (GRCm39) R72G probably damaging Het
Vwa8 T C 14: 79,219,838 (GRCm39) probably null 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
R5052:Ptprz1 UTSW 6 23,045,625 (GRCm39) missense probably damaging 1.00
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
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'- GCAATGGTTACTCTCCTGGTC -3'
(R):5'- GCCATATCATCCCTGTGACTAAG -3'

Sequencing Primer
(F):5'- AATGGTTACTCTCCTGGTCATGGATC -3'
(R):5'- GACTGGTAGCCTGACACATG -3'
Posted On 2016-11-09