Incidental Mutation 'IGL02926:Ptprn'
ID 363875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprn
Ensembl Gene ENSMUSG00000026204
Gene Name protein tyrosine phosphatase receptor type N
Synonyms IA-2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.606) question?
Stock # IGL02926
Quality Score
Status
Chromosome 1
Chromosomal Location 75223671-75241146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75224517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 946 (H946Q)
Ref Sequence ENSEMBL: ENSMUSP00000027404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027404] [ENSMUST00000055223] [ENSMUST00000082158] [ENSMUST00000185403] [ENSMUST00000187058] [ENSMUST00000188290] [ENSMUST00000188931] [ENSMUST00000188346]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000027404
AA Change: H946Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: H946Q

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
RESP18 63 164 1.5e-51 SMART
low complexity region 174 201 N/A INTRINSIC
low complexity region 217 235 N/A INTRINSIC
low complexity region 360 368 N/A INTRINSIC
Pfam:Receptor_IA-2 471 559 7e-33 PFAM
transmembrane domain 579 601 N/A INTRINSIC
low complexity region 650 679 N/A INTRINSIC
PTPc 710 973 1.2e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055223
SMART Domains Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 1.46e-29 SMART
low complexity region 67 78 N/A INTRINSIC
low complexity region 119 148 N/A INTRINSIC
UIM 189 208 3.05e1 SMART
UIM 232 251 5.19e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000082158
SMART Domains Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185403
SMART Domains Protein: ENSMUSP00000139982
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 2.8e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187058
SMART Domains Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 1.46e-29 SMART
low complexity region 67 78 N/A INTRINSIC
low complexity region 119 148 N/A INTRINSIC
UIM 189 208 3.05e1 SMART
UIM 232 251 5.19e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188290
SMART Domains Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191154
Predicted Effect probably benign
Transcript: ENSMUST00000190445
Predicted Effect probably benign
Transcript: ENSMUST00000188931
SMART Domains Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188346
SMART Domains Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203

DomainStartEndE-ValueType
DnaJ 2 61 2.1e-30 SMART
low complexity region 85 96 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
UIM 207 226 3.05e1 SMART
UIM 250 269 5.19e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A T 6: 85,618,432 (GRCm39) D2826V probably damaging Het
Alpl C T 4: 137,469,945 (GRCm39) A460T probably damaging Het
C2cd5 A G 6: 142,976,963 (GRCm39) probably benign Het
C4b C T 17: 34,949,686 (GRCm39) R1468Q possibly damaging Het
Calu A G 6: 29,366,919 (GRCm39) T44A possibly damaging Het
Cgn T C 3: 94,685,326 (GRCm39) K399R probably benign Het
Ciao3 A G 17: 26,001,128 (GRCm39) H460R probably benign Het
Cyp2t4 G A 7: 26,857,228 (GRCm39) V356M probably damaging Het
D430041D05Rik T C 2: 104,044,604 (GRCm39) D683G probably damaging Het
Dhcr24 T A 4: 106,443,552 (GRCm39) I410N probably damaging Het
Dmap1 T A 4: 117,539,085 (GRCm39) E17V probably benign Het
Dnaaf9 C T 2: 130,554,286 (GRCm39) R921K probably benign Het
Dnah7a A G 1: 53,535,109 (GRCm39) I2717T possibly damaging Het
Epb41l3 G T 17: 69,554,741 (GRCm39) K280N probably damaging Het
Espl1 T A 15: 102,208,290 (GRCm39) M432K probably damaging Het
Fgf5 C A 5: 98,409,874 (GRCm39) A141E probably damaging Het
Fto T A 8: 92,211,795 (GRCm39) F373L probably damaging Het
Gpatch1 T C 7: 35,007,694 (GRCm39) D122G probably damaging Het
Ints11 T C 4: 155,972,568 (GRCm39) probably null Het
Jarid2 A G 13: 45,056,405 (GRCm39) Q398R probably benign Het
Kcnh1 A G 1: 191,959,208 (GRCm39) D254G probably damaging Het
Lamc3 C T 2: 31,825,738 (GRCm39) probably benign Het
Lamc3 C T 2: 31,825,737 (GRCm39) probably benign Het
Ltbp4 T C 7: 27,028,297 (GRCm39) probably null Het
Mcm6 A G 1: 128,267,119 (GRCm39) Y575H probably damaging Het
Myh9 A C 15: 77,671,826 (GRCm39) Y422D probably damaging Het
Or4c35 T C 2: 89,808,506 (GRCm39) L128P probably damaging Het
Or5b105 A C 19: 13,080,187 (GRCm39) N160K possibly damaging Het
Or8b47 T C 9: 38,435,021 (GRCm39) probably benign Het
Plcb1 T C 2: 135,206,682 (GRCm39) probably benign Het
Pmfbp1 A G 8: 110,246,881 (GRCm39) E251G probably damaging Het
Psg27 A T 7: 18,291,054 (GRCm39) V383E probably damaging Het
Rbl1 A G 2: 157,009,333 (GRCm39) V734A probably benign Het
Rspry1 T A 8: 95,376,439 (GRCm39) N320K probably damaging Het
Ryr1 A T 7: 28,760,965 (GRCm39) V3219D probably damaging Het
Ryr2 C A 13: 11,774,721 (GRCm39) W1145L probably damaging Het
Scel A T 14: 103,813,683 (GRCm39) R319* probably null Het
Stxbp2 C T 8: 3,685,629 (GRCm39) T226I probably benign Het
Tac1 A T 6: 7,562,410 (GRCm39) N106I possibly damaging Het
Trim13 G T 14: 61,842,693 (GRCm39) probably null Het
Tspan31 T G 10: 126,904,778 (GRCm39) probably null Het
Usp36 C T 11: 118,155,609 (GRCm39) V723M probably benign Het
Utrn A T 10: 12,566,504 (GRCm39) N1219K probably damaging Het
Vcan G T 13: 89,836,742 (GRCm39) T2934K probably damaging Het
Other mutations in Ptprn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Ptprn APN 1 75,228,914 (GRCm39) missense probably damaging 0.99
IGL01900:Ptprn APN 1 75,228,892 (GRCm39) splice site probably benign
IGL02189:Ptprn APN 1 75,235,139 (GRCm39) missense possibly damaging 0.73
IGL02282:Ptprn APN 1 75,229,800 (GRCm39) missense probably damaging 1.00
IGL02452:Ptprn APN 1 75,234,813 (GRCm39) missense probably benign 0.34
IGL02865:Ptprn APN 1 75,239,007 (GRCm39) missense probably damaging 1.00
IGL03062:Ptprn APN 1 75,224,517 (GRCm39) missense possibly damaging 0.95
ascorbic UTSW 1 75,224,537 (GRCm39) missense probably benign 0.16
Delusion UTSW 1 75,224,810 (GRCm39) missense probably damaging 1.00
H8562:Ptprn UTSW 1 75,231,264 (GRCm39) missense possibly damaging 0.66
R0051:Ptprn UTSW 1 75,228,898 (GRCm39) critical splice donor site probably null
R0107:Ptprn UTSW 1 75,232,356 (GRCm39) missense probably damaging 0.99
R0801:Ptprn UTSW 1 75,228,909 (GRCm39) missense probably damaging 1.00
R0865:Ptprn UTSW 1 75,224,782 (GRCm39) splice site probably null
R1120:Ptprn UTSW 1 75,234,825 (GRCm39) missense probably benign 0.00
R1534:Ptprn UTSW 1 75,234,587 (GRCm39) critical splice donor site probably null
R1740:Ptprn UTSW 1 75,238,694 (GRCm39) missense probably damaging 1.00
R1857:Ptprn UTSW 1 75,224,549 (GRCm39) missense possibly damaging 0.64
R1927:Ptprn UTSW 1 75,230,766 (GRCm39) missense probably benign 0.00
R1974:Ptprn UTSW 1 75,231,464 (GRCm39) splice site probably null
R2071:Ptprn UTSW 1 75,231,788 (GRCm39) missense probably damaging 1.00
R2223:Ptprn UTSW 1 75,234,581 (GRCm39) unclassified probably benign
R3714:Ptprn UTSW 1 75,229,411 (GRCm39) splice site probably null
R4617:Ptprn UTSW 1 75,228,931 (GRCm39) missense possibly damaging 0.74
R4832:Ptprn UTSW 1 75,234,909 (GRCm39) missense probably benign 0.37
R5503:Ptprn UTSW 1 75,228,519 (GRCm39) missense probably damaging 1.00
R5926:Ptprn UTSW 1 75,231,242 (GRCm39) missense probably damaging 1.00
R6217:Ptprn UTSW 1 75,224,810 (GRCm39) missense probably damaging 1.00
R6419:Ptprn UTSW 1 75,240,681 (GRCm39) missense probably benign 0.10
R6793:Ptprn UTSW 1 75,234,786 (GRCm39) missense probably benign 0.38
R6964:Ptprn UTSW 1 75,237,293 (GRCm39) missense possibly damaging 0.83
R7071:Ptprn UTSW 1 75,237,263 (GRCm39) missense possibly damaging 0.82
R7680:Ptprn UTSW 1 75,224,537 (GRCm39) missense probably benign 0.16
R7777:Ptprn UTSW 1 75,228,946 (GRCm39) missense possibly damaging 0.54
R7883:Ptprn UTSW 1 75,239,007 (GRCm39) missense probably damaging 1.00
R8233:Ptprn UTSW 1 75,229,796 (GRCm39) missense probably damaging 1.00
R8243:Ptprn UTSW 1 75,229,179 (GRCm39) missense probably damaging 0.99
R8941:Ptprn UTSW 1 75,228,407 (GRCm39) missense probably damaging 1.00
R9076:Ptprn UTSW 1 75,229,018 (GRCm39) missense probably damaging 1.00
R9382:Ptprn UTSW 1 75,229,135 (GRCm39) missense probably benign 0.05
X0017:Ptprn UTSW 1 75,229,909 (GRCm39) missense probably benign 0.15
Z1088:Ptprn UTSW 1 75,237,264 (GRCm39) missense possibly damaging 0.70
Z1176:Ptprn UTSW 1 75,228,462 (GRCm39) missense probably damaging 0.99
Z1177:Ptprn UTSW 1 75,234,681 (GRCm39) missense probably benign 0.04
Posted On 2015-12-18