Incidental Mutation 'IGL03062:Ptprn'
ID 409512
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 # IGL03062
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,681,054 (GRCm39) R714Q possibly damaging Het
Abcb5 T A 12: 118,899,822 (GRCm39) I282L probably benign Het
Aox1 A T 1: 58,117,624 (GRCm39) E835D probably benign Het
Arhgap17 C T 7: 122,921,097 (GRCm39) probably null Het
Bltp1 T C 3: 37,092,666 (GRCm39) probably benign Het
Calcr C T 6: 3,693,718 (GRCm39) V359I probably benign Het
Chd9 T A 8: 91,741,895 (GRCm39) probably benign Het
Col28a1 T C 6: 8,017,029 (GRCm39) probably benign Het
Dnajc11 A G 4: 152,055,318 (GRCm39) E171G possibly damaging Het
Efhd1 T C 1: 87,192,406 (GRCm39) F79L possibly damaging Het
Fam83a A T 15: 57,856,473 (GRCm39) probably null Het
Fam98a A G 17: 75,847,100 (GRCm39) probably benign Het
Ficd A G 5: 113,876,314 (GRCm39) Y163C probably damaging Het
Filip1l T C 16: 57,327,167 (GRCm39) S66P probably damaging Het
Fmo5 A G 3: 97,542,909 (GRCm39) Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 (GRCm39) R574S possibly damaging Het
Klc3 C A 7: 19,128,987 (GRCm39) G461W probably damaging Het
Lmo7 A T 14: 102,149,515 (GRCm39) T973S possibly damaging Het
Loxl1 C A 9: 58,219,193 (GRCm39) G326V possibly damaging Het
Lrrc24 A G 15: 76,602,504 (GRCm39) V127A probably benign Het
Lyrm1 T C 7: 119,515,354 (GRCm39) probably benign Het
Med28 G A 5: 45,679,811 (GRCm39) V65I probably damaging Het
Mgat4c T C 10: 102,224,322 (GRCm39) Y179H probably damaging Het
Micall1 A C 15: 78,998,881 (GRCm39) N58T probably damaging Het
Mtcl3 T A 10: 29,074,945 (GRCm39) F911Y probably damaging Het
Ncoa4 T A 14: 31,895,377 (GRCm39) M72K possibly damaging Het
Nutm1 T C 2: 112,079,278 (GRCm39) Q879R probably benign Het
Or4d6 C T 19: 12,086,512 (GRCm39) V133I probably benign Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Or8g52 T A 9: 39,631,331 (GRCm39) D269E probably benign Het
Phf11b T C 14: 59,562,373 (GRCm39) I177M probably damaging Het
Pin1rt1 T G 2: 104,545,052 (GRCm39) I27L probably benign Het
Plxna2 T C 1: 194,444,858 (GRCm39) V750A possibly damaging Het
Pou5f1 A T 17: 35,820,936 (GRCm39) N126I possibly damaging Het
Rnf43 G T 11: 87,623,130 (GRCm39) G744* probably null Het
Rsbn1 C A 3: 103,860,945 (GRCm39) probably benign Het
Sars2 T A 7: 28,446,206 (GRCm39) I145N possibly damaging Het
Sh3tc2 A T 18: 62,144,951 (GRCm39) E1135V probably damaging Het
Shroom1 A G 11: 53,354,206 (GRCm39) D42G probably benign Het
Sidt2 A G 9: 45,853,981 (GRCm39) probably null Het
Slc39a8 T C 3: 135,592,558 (GRCm39) probably benign Het
Slc9c1 T C 16: 45,420,121 (GRCm39) S1059P probably benign Het
Socs6 A T 18: 88,887,970 (GRCm39) M315K probably benign Het
Speer2 T C 16: 69,654,865 (GRCm39) E200G probably damaging Het
Sult2a5 T A 7: 13,358,107 (GRCm39) probably null Het
Tmbim1 A T 1: 74,330,858 (GRCm39) I168N possibly damaging Het
Trim38 T C 13: 23,966,946 (GRCm39) V131A probably damaging Het
Ube2o A G 11: 116,432,468 (GRCm39) S833P probably damaging Het
Uggt2 T C 14: 119,312,758 (GRCm39) I350M probably damaging Het
Unc80 A G 1: 66,548,648 (GRCm39) D640G probably damaging Het
Vmn2r13 A G 5: 109,304,148 (GRCm39) F761S probably damaging Het
Vmn2r54 C T 7: 12,366,355 (GRCm39) C193Y 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
IGL02926: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 2016-08-02