Incidental Mutation 'IGL01458:Ptprz1'
ID 84869
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: 0.726) question?
Stock # IGL01458
Quality Score
Status
Chromosome 6
Chromosomal Location 22875501-23052915 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22972843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 251 (D251V)
Ref Sequence ENSEMBL: ENSMUSP00000088056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090568] [ENSMUST00000202102] [ENSMUST00000202579]
AlphaFold B9EKR1
Predicted Effect probably damaging
Transcript: ENSMUST00000090568
AA Change: D251V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088056
Gene: ENSMUSG00000068748
AA Change: D251V

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 unknown
Transcript: ENSMUST00000202102
AA Change: D251V
SMART Domains Protein: ENSMUSP00000143902
Gene: ENSMUSG00000068748
AA Change: D251V

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 noncoding transcript
Transcript: ENSMUST00000202341
Predicted Effect probably damaging
Transcript: ENSMUST00000202579
AA Change: D251V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144605
Gene: ENSMUSG00000068748
AA Change: D251V

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik A T 9: 3,134,008 (GRCm39) noncoding transcript Het
Akap12 A G 10: 4,304,060 (GRCm39) E290G probably damaging Het
Akap6 T A 12: 52,933,601 (GRCm39) C364* probably null Het
Akr1c18 A T 13: 4,187,143 (GRCm39) Y198N probably damaging Het
Aurka T C 2: 172,210,899 (GRCm39) probably benign Het
Bloc1s6 T A 2: 122,586,135 (GRCm39) probably null Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Csn2 T C 5: 87,843,879 (GRCm39) probably benign Het
Dsc1 T C 18: 20,232,195 (GRCm39) E271G probably damaging Het
Eif1ad4 A T 12: 87,862,158 (GRCm39) K7* probably null Het
Evi5 G A 5: 107,963,513 (GRCm39) A354V probably damaging Het
Fcer2a T A 8: 3,738,151 (GRCm39) R137S probably benign Het
Fto A G 8: 92,168,344 (GRCm39) T266A probably benign Het
Fzd4 G A 7: 89,053,943 (GRCm39) V17I unknown Het
Gadd45b T C 10: 80,767,075 (GRCm39) L105P probably damaging Het
Galntl6 T C 8: 58,880,743 (GRCm39) S137G probably damaging Het
Gpr135 T C 12: 72,116,442 (GRCm39) M442V probably benign Het
Kcnq1 T A 7: 142,748,015 (GRCm39) Y330* probably null Het
Kdm5b A G 1: 134,549,724 (GRCm39) R1106G possibly damaging Het
Lrrc8e C T 8: 4,286,141 (GRCm39) R789W probably damaging Het
Myo16 T C 8: 10,485,853 (GRCm39) L644P probably damaging Het
Nbeal1 G T 1: 60,281,784 (GRCm39) probably null Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10ag56 C T 2: 87,139,826 (GRCm39) T251I probably damaging Het
Or1e29 A T 11: 73,667,532 (GRCm39) I207N probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Ovgp1 A G 3: 105,882,307 (GRCm39) N70D probably benign Het
Panx3 A T 9: 37,572,443 (GRCm39) M369K probably damaging Het
Plet1 A G 9: 50,406,017 (GRCm39) N52S probably benign Het
Prss1l T G 6: 41,373,621 (GRCm39) D161E probably benign Het
Psg18 A T 7: 18,088,741 (GRCm39) M1K probably null Het
Serpinb6a A G 13: 34,114,064 (GRCm39) Y88H possibly damaging Het
Siglecf G A 7: 43,004,562 (GRCm39) R297Q possibly damaging Het
Tbx15 T C 3: 99,223,544 (GRCm39) V244A probably damaging Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Trim39 A G 17: 36,574,855 (GRCm39) probably benign Het
Vps37c T C 19: 10,687,781 (GRCm39) C81R probably damaging Het
Wdr62 A T 7: 29,941,187 (GRCm39) S744T probably benign Het
Zyg11a G A 4: 108,062,099 (GRCm39) T234I probably 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
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
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 2013-11-11