Incidental Mutation 'IGL02926:Ptprn'
ID363875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprn
Ensembl Gene ENSMUSG00000026204
Gene Nameprotein tyrosine phosphatase, receptor type, N
SynonymsIA-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.493) question?
Stock #IGL02926
Quality Score
Status
Chromosome1
Chromosomal Location75247027-75264502 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75247873 bp
ZygosityHeterozygous
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] [ENSMUST00000188346] [ENSMUST00000188931]
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 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
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: ENSMUST00000190445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191154
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
4930402H24Rik C T 2: 130,712,366 R921K probably benign Het
Alms1 A T 6: 85,641,450 D2826V probably damaging Het
Alpl C T 4: 137,742,634 A460T probably damaging Het
C2cd5 A G 6: 143,031,237 probably benign Het
C4b C T 17: 34,730,712 R1468Q possibly damaging Het
Calu A G 6: 29,366,920 T44A possibly damaging Het
Cgn T C 3: 94,778,016 K399R probably benign Het
Cyp2t4 G A 7: 27,157,803 V356M probably damaging Het
D430041D05Rik T C 2: 104,214,259 D683G probably damaging Het
Dhcr24 T A 4: 106,586,355 I410N probably damaging Het
Dmap1 T A 4: 117,681,888 E17V probably benign Het
Dnah7a A G 1: 53,495,950 I2717T possibly damaging Het
Epb41l3 G T 17: 69,247,746 K280N probably damaging Het
Espl1 T A 15: 102,299,855 M432K probably damaging Het
Fgf5 C A 5: 98,262,015 A141E probably damaging Het
Fto T A 8: 91,485,167 F373L probably damaging Het
Gpatch1 T C 7: 35,308,269 D122G probably damaging Het
Ints11 T C 4: 155,888,111 probably null Het
Jarid2 A G 13: 44,902,929 Q398R probably benign Het
Kcnh1 A G 1: 192,276,900 D254G probably damaging Het
Lamc3 C T 2: 31,935,725 probably benign Het
Lamc3 C T 2: 31,935,726 probably benign Het
Ltbp4 T C 7: 27,328,872 probably null Het
Mcm6 A G 1: 128,339,382 Y575H probably damaging Het
Myh9 A C 15: 77,787,626 Y422D probably damaging Het
Narfl A G 17: 25,782,154 H460R probably benign Het
Olfr1260 T C 2: 89,978,162 L128P probably damaging Het
Olfr1458 A C 19: 13,102,823 N160K possibly damaging Het
Olfr911-ps1 T C 9: 38,523,725 probably benign Het
Plcb1 T C 2: 135,364,762 probably benign Het
Pmfbp1 A G 8: 109,520,249 E251G probably damaging Het
Psg27 A T 7: 18,557,129 V383E probably damaging Het
Rbl1 A G 2: 157,167,413 V734A probably benign Het
Rspry1 T A 8: 94,649,811 N320K probably damaging Het
Ryr1 A T 7: 29,061,540 V3219D probably damaging Het
Ryr2 C A 13: 11,759,835 W1145L probably damaging Het
Scel A T 14: 103,576,247 R319* probably null Het
Stxbp2 C T 8: 3,635,629 T226I probably benign Het
Tac1 A T 6: 7,562,410 N106I possibly damaging Het
Trim13 G T 14: 61,605,244 probably null Het
Tspan31 T G 10: 127,068,909 probably null Het
Usp36 C T 11: 118,264,783 V723M probably benign Het
Utrn A T 10: 12,690,760 N1219K probably damaging Het
Vcan G T 13: 89,688,623 T2934K probably damaging Het
Other mutations in Ptprn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Ptprn APN 1 75252270 missense probably damaging 0.99
IGL01900:Ptprn APN 1 75252248 splice site probably benign
IGL02189:Ptprn APN 1 75258495 missense possibly damaging 0.73
IGL02282:Ptprn APN 1 75253156 missense probably damaging 1.00
IGL02452:Ptprn APN 1 75258169 missense probably benign 0.34
IGL02865:Ptprn APN 1 75262363 missense probably damaging 1.00
IGL03062:Ptprn APN 1 75247873 missense possibly damaging 0.95
H8562:Ptprn UTSW 1 75254620 missense possibly damaging 0.66
R0051:Ptprn UTSW 1 75252254 critical splice donor site probably null
R0107:Ptprn UTSW 1 75255712 missense probably damaging 0.99
R0801:Ptprn UTSW 1 75252265 missense probably damaging 1.00
R0865:Ptprn UTSW 1 75248138 unclassified probably null
R1120:Ptprn UTSW 1 75258181 missense probably benign 0.00
R1534:Ptprn UTSW 1 75257943 critical splice donor site probably null
R1740:Ptprn UTSW 1 75262050 missense probably damaging 1.00
R1857:Ptprn UTSW 1 75247905 missense possibly damaging 0.64
R1927:Ptprn UTSW 1 75254122 missense probably benign 0.00
R1974:Ptprn UTSW 1 75254820 unclassified probably null
R2071:Ptprn UTSW 1 75255144 missense probably damaging 1.00
R2223:Ptprn UTSW 1 75257937 unclassified probably benign
R3714:Ptprn UTSW 1 75252767 splice site probably null
R4617:Ptprn UTSW 1 75252287 missense possibly damaging 0.74
R4832:Ptprn UTSW 1 75258265 missense probably benign 0.37
R5503:Ptprn UTSW 1 75251875 missense probably damaging 1.00
R5926:Ptprn UTSW 1 75254598 missense probably damaging 1.00
R6217:Ptprn UTSW 1 75248166 missense probably damaging 1.00
R6419:Ptprn UTSW 1 75264037 missense probably benign 0.10
R6793:Ptprn UTSW 1 75258142 missense probably benign 0.38
R6964:Ptprn UTSW 1 75260649 missense possibly damaging 0.83
R7071:Ptprn UTSW 1 75260619 missense possibly damaging 0.82
R7680:Ptprn UTSW 1 75247893 missense probably benign 0.16
R7777:Ptprn UTSW 1 75252302 missense possibly damaging 0.54
X0017:Ptprn UTSW 1 75253265 missense probably benign 0.15
Z1088:Ptprn UTSW 1 75260620 missense possibly damaging 0.70
Posted On2015-12-18