Incidental Mutation 'IGL03365:Ptprz1'
ID 420070
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # IGL03365
Quality Score
Status
Chromosome 6
Chromosomal Location 22875501-23052915 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 23030581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090568] [ENSMUST00000202102]
AlphaFold B9EKR1
Predicted Effect probably benign
Transcript: ENSMUST00000090568
SMART Domains Protein: ENSMUSP00000088056
Gene: ENSMUSG00000068748

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 benign
Transcript: ENSMUST00000202102
SMART Domains Protein: ENSMUSP00000143902
Gene: ENSMUSG00000068748

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 25,202,809 (GRCm39) probably benign Het
Adam6a T A 12: 113,507,765 (GRCm39) I46N possibly damaging Het
Adipor1 A G 1: 134,359,380 (GRCm39) D371G possibly damaging Het
Akr1c21 C T 13: 4,633,851 (GRCm39) P307S probably benign Het
Aoc1l3 A G 6: 48,965,531 (GRCm39) D513G probably damaging Het
Asxl1 T A 2: 153,243,674 (GRCm39) I1408N probably damaging Het
Avil T C 10: 126,846,852 (GRCm39) V472A probably damaging Het
Bpifa6 C A 2: 153,831,204 (GRCm39) Q257K possibly damaging Het
Cacna2d4 G T 6: 119,248,225 (GRCm39) V380L probably benign Het
Clip1 A C 5: 123,721,649 (GRCm39) S1111A probably damaging Het
Dennd4c A G 4: 86,725,663 (GRCm39) probably null Het
Dock8 C T 19: 25,077,048 (GRCm39) P506L possibly damaging Het
Ecsit A C 9: 21,987,822 (GRCm39) H72Q probably damaging Het
Eif1b T A 9: 120,323,186 (GRCm39) D15E probably benign Het
Enpp1 A G 10: 24,544,923 (GRCm39) Y319H probably damaging Het
Fat3 T C 9: 15,907,765 (GRCm39) N2746D probably damaging Het
Fgf20 G T 8: 40,732,932 (GRCm39) L115I possibly damaging Het
Hip1r C T 5: 124,138,230 (GRCm39) R775W probably damaging Het
Hycc1 A T 5: 24,188,158 (GRCm39) Y245N probably benign Het
Lrp12 A T 15: 39,735,917 (GRCm39) S672T probably benign Het
Morf4l2 A G X: 135,634,464 (GRCm39) Y255H probably benign Het
Mri1 A G 8: 84,978,262 (GRCm39) V343A possibly damaging Het
Mybphl T A 3: 108,272,314 (GRCm39) M1K probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Ofd1 C A X: 165,175,512 (GRCm39) V951F probably damaging Het
Or4k51 G T 2: 111,584,772 (GRCm39) M59I possibly damaging Het
Or51r1 G T 7: 102,227,836 (GRCm39) V45F probably benign Het
Or6c208 T A 10: 129,224,108 (GRCm39) V202D possibly damaging Het
Parp12 G A 6: 39,079,581 (GRCm39) R310W probably damaging Het
Pcdh11x T A X: 119,425,935 (GRCm39) D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 (GRCm39) probably benign Het
Qser1 T A 2: 104,617,344 (GRCm39) N1156I probably damaging Het
Rgs3 T A 4: 62,607,912 (GRCm39) D59E probably benign Het
Rims2 T C 15: 39,339,937 (GRCm39) F917S probably damaging Het
Sap30bp G A 11: 115,855,078 (GRCm39) V263M possibly damaging Het
Scart2 T A 7: 139,876,682 (GRCm39) V691E probably damaging Het
Scfd2 G T 5: 74,691,596 (GRCm39) H229N possibly damaging Het
Sspo T C 6: 48,436,349 (GRCm39) V1233A possibly damaging Het
Stam T A 2: 14,151,201 (GRCm39) Y519* probably null Het
Synj2 A G 17: 6,069,679 (GRCm39) T602A probably damaging Het
Tas2r126 C T 6: 42,412,391 (GRCm39) A308V probably benign Het
Tm4sf20 T C 1: 82,745,948 (GRCm39) probably benign Het
Ttc23 G A 7: 67,312,085 (GRCm39) probably benign Het
Vmn1r90 T C 7: 14,295,229 (GRCm39) I290V probably damaging Het
Xirp1 A C 9: 119,847,605 (GRCm39) L426W probably damaging Het
Zgrf1 T G 3: 127,392,423 (GRCm39) F430L 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
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
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
Posted On 2016-08-02