Incidental Mutation 'IGL01601:Ptprz1'
ID 91764
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 # IGL01601
Quality Score
Status
Chromosome 6
Chromosomal Location 22875501-23052915 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23000437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 842 (H842Q)
Ref Sequence ENSEMBL: ENSMUSP00000144605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090568] [ENSMUST00000202102] [ENSMUST00000202579]
AlphaFold B9EKR1
Predicted Effect probably damaging
Transcript: ENSMUST00000090568
AA Change: H842Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088056
Gene: ENSMUSG00000068748
AA Change: H842Q

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: ENSMUST00000201827
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
Predicted Effect probably damaging
Transcript: ENSMUST00000202579
AA Change: H842Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144605
Gene: ENSMUSG00000068748
AA Change: H842Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Carb_anhydrase 38 300 4e-103 SMART
FN3 312 397 2.8e-6 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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T C 17: 43,020,940 (GRCm39) D628G probably benign Het
Aldh1l1 T A 6: 90,568,823 (GRCm39) I708N probably damaging Het
Ank3 T A 10: 69,840,555 (GRCm39) F985I possibly damaging Het
Arap2 A G 5: 62,798,685 (GRCm39) W1315R probably damaging Het
Arhgef33 C A 17: 80,655,112 (GRCm39) Q106K probably damaging Het
Atad5 G A 11: 79,986,343 (GRCm39) G477S probably benign Het
Chgb T A 2: 132,635,411 (GRCm39) I451K probably benign Het
Cln6 T A 9: 62,754,252 (GRCm39) I98N probably damaging Het
Commd1 T C 11: 22,849,981 (GRCm39) E234G probably damaging Het
Dock2 C A 11: 34,189,528 (GRCm39) probably null Het
Flrt2 T C 12: 95,746,369 (GRCm39) S236P probably damaging Het
Garnl3 G A 2: 32,887,701 (GRCm39) Q770* probably null Het
Gpr22 C T 12: 31,760,044 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,503,164 (GRCm39) D3880E probably benign Het
Lgals8 T C 13: 12,471,219 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,101 (GRCm39) V214A probably benign Het
Nat8l T C 5: 34,155,809 (GRCm39) L155P probably damaging Het
Nckipsd A G 9: 108,691,154 (GRCm39) S359G probably benign Het
Pex6 A C 17: 47,034,650 (GRCm39) N785T probably damaging Het
Potefam1 A T 2: 111,023,823 (GRCm39) C104S unknown Het
Rhno1 A T 6: 128,335,021 (GRCm39) S101T probably damaging Het
Rnf103 T G 6: 71,486,167 (GRCm39) V266G probably damaging Het
Slc25a39 T C 11: 102,296,544 (GRCm39) D100G probably damaging Het
Sspo T C 6: 48,463,313 (GRCm39) L3746P probably benign Het
Svep1 C T 4: 58,084,872 (GRCm39) G1822E probably damaging Het
Tbl3 T A 17: 24,921,291 (GRCm39) D500V probably damaging Het
Tmc5 T C 7: 118,223,047 (GRCm39) probably benign Het
Usp20 C T 2: 30,901,806 (GRCm39) R524W probably benign Het
Wnk2 G T 13: 49,230,038 (GRCm39) P829T probably damaging Het
Zmiz1 A G 14: 25,582,068 (GRCm39) N84S 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
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
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 2013-12-09