Incidental Mutation 'IGL02172:Ptprn2'
ID 282958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprn2
Ensembl Gene ENSMUSG00000056553
Gene Name protein tyrosine phosphatase receptor type N polypeptide 2
Synonyms IA-2 beta, PTP-NP, 4930425H11Rik, IA-2beta, phogrin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # IGL02172
Quality Score
Status
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 116837317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]
AlphaFold P80560
Predicted Effect probably benign
Transcript: ENSMUST00000070733
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
RESP18 58 157 1.9e-40 SMART
low complexity region 393 426 N/A INTRINSIC
Pfam:Receptor_IA-2 495 583 1.5e-35 PFAM
low complexity region 687 707 N/A INTRINSIC
PTPc 730 993 4.42e-119 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189009
Predicted Effect probably benign
Transcript: ENSMUST00000190247
SMART Domains Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
RESP18 58 157 1.9e-40 SMART
low complexity region 393 426 N/A INTRINSIC
Pfam:Receptor_IA-2 494 584 2.5e-43 PFAM
transmembrane domain 602 624 N/A INTRINSIC
low complexity region 687 707 N/A INTRINSIC
PTPc 730 932 8.81e-64 SMART
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 protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,341,817 (GRCm39) V1048A probably benign Het
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Arhgef26 T C 3: 62,367,097 (GRCm39) V810A probably benign Het
Atf1 T A 15: 100,152,322 (GRCm39) V105E probably damaging Het
Bbs9 C T 9: 22,490,772 (GRCm39) T300I possibly damaging Het
Bltp1 T C 3: 37,059,022 (GRCm39) V3236A probably damaging Het
Brd7 G T 8: 89,078,452 (GRCm39) H226Q probably benign Het
Cadps T C 14: 12,705,681 (GRCm38) K238R probably damaging Het
Chordc1 A G 9: 18,213,388 (GRCm39) T80A possibly damaging Het
Clca4a A T 3: 144,676,155 (GRCm39) C126* probably null Het
Col24a1 A T 3: 145,020,723 (GRCm39) T365S probably benign Het
Crb1 C T 1: 139,164,965 (GRCm39) G1053D probably damaging Het
Creb3l4 A T 3: 90,150,082 (GRCm39) S20T probably benign Het
Cyp2c67 C T 19: 39,637,446 (GRCm39) C10Y possibly damaging Het
Dhdh A T 7: 45,125,041 (GRCm39) C294S probably damaging Het
Fam135a A G 1: 24,063,861 (GRCm39) probably null Het
Fsd1 G T 17: 56,297,244 (GRCm39) probably benign Het
Gatad2b A G 3: 90,262,978 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,680,382 (GRCm39) D232G probably damaging Het
Gm10553 T C 1: 85,078,015 (GRCm39) L44P probably damaging Het
Hecw1 T C 13: 14,438,734 (GRCm39) Y883C probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Ift172 T C 5: 31,438,681 (GRCm39) probably benign Het
Krtcap3 A C 5: 31,409,397 (GRCm39) T55P probably damaging Het
Megf6 A G 4: 154,355,149 (GRCm39) D1488G probably damaging Het
Mrpl1 T C 5: 96,379,574 (GRCm39) V203A probably damaging Het
Myh2 A T 11: 67,079,878 (GRCm39) D1084V possibly damaging Het
Necap2 T A 4: 140,805,621 (GRCm39) probably benign Het
Nemp1 A G 10: 127,528,868 (GRCm39) S191G probably benign Het
Nrip1 T C 16: 76,088,380 (GRCm39) D1059G probably damaging Het
Ntrk3 A T 7: 78,110,020 (GRCm39) probably benign Het
Or51e1 G A 7: 102,359,051 (GRCm39) R195H probably benign Het
Or51f1d A G 7: 102,700,582 (GRCm39) I26V probably benign Het
Prkdc T G 16: 15,627,623 (GRCm39) V3427G probably benign Het
Ptprt A T 2: 161,397,422 (GRCm39) L1095H probably damaging Het
Ren1 T A 1: 133,286,771 (GRCm39) L300Q possibly damaging Het
Rgl3 A G 9: 21,888,134 (GRCm39) I460T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 (GRCm39) Q265P probably benign Het
Sh3d21 A G 4: 126,046,153 (GRCm39) S282P probably benign Het
Slc39a13 T C 2: 90,893,505 (GRCm39) E318G possibly damaging Het
Srd5a3 T C 5: 76,295,556 (GRCm39) I82T probably benign Het
Stard7 C A 2: 127,132,792 (GRCm39) T220N probably damaging Het
Tbx4 G A 11: 85,805,389 (GRCm39) G493R possibly damaging Het
Trerf1 A T 17: 47,628,743 (GRCm39) noncoding transcript Het
Trim59 T A 3: 68,944,810 (GRCm39) I177L probably benign Het
Trpm7 T C 2: 126,637,248 (GRCm39) M1789V possibly damaging Het
Tsc22d1 T C 14: 76,655,132 (GRCm39) V455A probably benign Het
Vmn2r118 C A 17: 55,931,598 (GRCm39) M25I probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr90 G A 17: 26,069,408 (GRCm39) T1233I probably benign Het
Zcchc2 G A 1: 105,928,664 (GRCm39) D308N probably benign Het
Zfp57 G T 17: 37,320,481 (GRCm39) V112L possibly damaging Het
Zfp874b A T 13: 67,622,135 (GRCm39) Y388N probably damaging Het
Other mutations in Ptprn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01695:Ptprn2 APN 12 116,805,008 (GRCm39) missense probably benign 0.02
IGL01788:Ptprn2 APN 12 116,864,607 (GRCm39) missense probably damaging 0.98
IGL02339:Ptprn2 APN 12 116,685,724 (GRCm39) missense probably damaging 1.00
IGL02706:Ptprn2 APN 12 116,852,518 (GRCm39) missense probably damaging 0.96
IGL03018:Ptprn2 APN 12 117,175,563 (GRCm39) missense probably damaging 1.00
IGL03267:Ptprn2 APN 12 116,839,964 (GRCm39) nonsense probably null
BB001:Ptprn2 UTSW 12 116,804,884 (GRCm39) missense probably benign 0.00
BB011:Ptprn2 UTSW 12 116,804,884 (GRCm39) missense probably benign 0.00
IGL03014:Ptprn2 UTSW 12 117,212,308 (GRCm39) missense probably damaging 1.00
R0066:Ptprn2 UTSW 12 117,240,222 (GRCm39) missense probably benign 0.07
R0066:Ptprn2 UTSW 12 117,240,222 (GRCm39) missense probably benign 0.07
R0115:Ptprn2 UTSW 12 117,175,466 (GRCm39) splice site probably benign
R0131:Ptprn2 UTSW 12 116,685,711 (GRCm39) missense probably damaging 1.00
R0131:Ptprn2 UTSW 12 116,685,711 (GRCm39) missense probably damaging 1.00
R0132:Ptprn2 UTSW 12 116,685,711 (GRCm39) missense probably damaging 1.00
R0481:Ptprn2 UTSW 12 117,175,466 (GRCm39) splice site probably benign
R0694:Ptprn2 UTSW 12 116,787,975 (GRCm39) missense possibly damaging 0.69
R0698:Ptprn2 UTSW 12 116,685,750 (GRCm39) nonsense probably null
R0746:Ptprn2 UTSW 12 116,864,637 (GRCm39) missense probably benign 0.00
R1127:Ptprn2 UTSW 12 117,175,628 (GRCm39) splice site probably null
R1443:Ptprn2 UTSW 12 117,217,235 (GRCm39) missense probably damaging 1.00
R1508:Ptprn2 UTSW 12 117,148,342 (GRCm39) missense probably damaging 1.00
R1664:Ptprn2 UTSW 12 117,125,329 (GRCm39) missense probably damaging 0.99
R1670:Ptprn2 UTSW 12 116,685,792 (GRCm39) missense possibly damaging 0.64
R1749:Ptprn2 UTSW 12 116,544,048 (GRCm39) missense probably benign 0.00
R2075:Ptprn2 UTSW 12 117,211,337 (GRCm39) missense probably benign 0.01
R3054:Ptprn2 UTSW 12 116,685,753 (GRCm39) missense probably damaging 1.00
R3107:Ptprn2 UTSW 12 116,839,800 (GRCm39) missense probably benign 0.04
R3109:Ptprn2 UTSW 12 116,839,800 (GRCm39) missense probably benign 0.04
R3552:Ptprn2 UTSW 12 116,852,497 (GRCm39) missense probably benign 0.00
R4193:Ptprn2 UTSW 12 116,864,628 (GRCm39) missense probably benign 0.01
R4523:Ptprn2 UTSW 12 116,839,620 (GRCm39) missense probably damaging 1.00
R4706:Ptprn2 UTSW 12 116,835,714 (GRCm39) missense probably benign 0.02
R4719:Ptprn2 UTSW 12 116,788,016 (GRCm39) missense possibly damaging 0.95
R4726:Ptprn2 UTSW 12 117,211,393 (GRCm39) nonsense probably null
R4872:Ptprn2 UTSW 12 117,125,314 (GRCm39) missense probably damaging 1.00
R4891:Ptprn2 UTSW 12 117,196,985 (GRCm39) splice site probably null
R4970:Ptprn2 UTSW 12 117,240,215 (GRCm39) missense probably damaging 1.00
R5208:Ptprn2 UTSW 12 116,822,548 (GRCm39) missense probably damaging 1.00
R5287:Ptprn2 UTSW 12 117,175,482 (GRCm39) missense probably damaging 1.00
R5419:Ptprn2 UTSW 12 117,148,267 (GRCm39) missense probably damaging 0.99
R6035:Ptprn2 UTSW 12 117,219,215 (GRCm39) missense probably damaging 1.00
R6035:Ptprn2 UTSW 12 117,219,215 (GRCm39) missense probably damaging 1.00
R6180:Ptprn2 UTSW 12 116,822,739 (GRCm39) missense probably benign 0.05
R6277:Ptprn2 UTSW 12 116,839,800 (GRCm39) missense probably benign 0.04
R6465:Ptprn2 UTSW 12 117,233,209 (GRCm39) missense probably damaging 0.96
R6488:Ptprn2 UTSW 12 116,835,658 (GRCm39) missense probably benign 0.13
R6555:Ptprn2 UTSW 12 117,190,820 (GRCm39) missense probably damaging 1.00
R6908:Ptprn2 UTSW 12 116,852,508 (GRCm39) missense probably benign 0.06
R7120:Ptprn2 UTSW 12 116,835,676 (GRCm39) missense probably benign 0.01
R7229:Ptprn2 UTSW 12 117,190,845 (GRCm39) splice site probably null
R7237:Ptprn2 UTSW 12 117,125,347 (GRCm39) missense probably benign 0.03
R7304:Ptprn2 UTSW 12 117,212,164 (GRCm39) missense probably damaging 1.00
R7355:Ptprn2 UTSW 12 116,822,571 (GRCm39) missense probably benign
R7460:Ptprn2 UTSW 12 117,212,301 (GRCm39) missense probably benign 0.05
R7577:Ptprn2 UTSW 12 116,449,486 (GRCm39) start codon destroyed probably null
R7658:Ptprn2 UTSW 12 116,685,739 (GRCm39) missense probably benign 0.01
R7666:Ptprn2 UTSW 12 116,804,940 (GRCm39) missense probably benign 0.10
R7924:Ptprn2 UTSW 12 116,804,884 (GRCm39) missense probably benign 0.00
R8219:Ptprn2 UTSW 12 117,148,357 (GRCm39) missense probably benign 0.30
R8716:Ptprn2 UTSW 12 117,219,168 (GRCm39) missense possibly damaging 0.73
R9235:Ptprn2 UTSW 12 117,233,271 (GRCm39) critical splice donor site probably null
R9605:Ptprn2 UTSW 12 117,125,278 (GRCm39) missense probably benign 0.13
X0066:Ptprn2 UTSW 12 117,148,360 (GRCm39) missense probably benign 0.16
X0066:Ptprn2 UTSW 12 117,125,380 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16