Incidental Mutation 'R4970:Ptprn2'
ID 384409
Institutional Source Beutler Lab
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
MMRRC Submission 042565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R4970 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117240215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 991 (E991K)
Ref Sequence ENSEMBL: ENSMUSP00000064046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]
AlphaFold P80560
Predicted Effect probably damaging
Transcript: ENSMUST00000070733
AA Change: E991K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: E991K

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: ENSMUST00000186454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190132
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
Meta Mutation Damage Score 0.2335 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (114/115)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,222,066 (GRCm39) noncoding transcript Het
Aars1 A G 8: 111,770,311 (GRCm39) M370V probably benign Het
Abca2 A G 2: 25,328,383 (GRCm39) K846R probably damaging Het
Acad9 A T 3: 36,139,674 (GRCm39) I425F probably damaging Het
Adhfe1 C A 1: 9,628,463 (GRCm39) D278E possibly damaging Het
Afg3l1 G A 8: 124,225,392 (GRCm39) V532I probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano7 G A 1: 93,325,085 (GRCm39) V546M possibly damaging Het
Aox1 G A 1: 58,349,254 (GRCm39) probably null Het
Asah1 G T 8: 41,813,314 (GRCm39) S33* probably null Het
Astn1 C T 1: 158,484,763 (GRCm39) S15F possibly damaging Het
Bag4 A T 8: 26,261,272 (GRCm39) Y156* probably null Het
Bmpr1b T C 3: 141,550,948 (GRCm39) E381G probably damaging Het
Btnl7-ps A G 17: 34,756,092 (GRCm39) noncoding transcript Het
Caap1 A T 4: 94,409,297 (GRCm39) probably null Het
Card10 C T 15: 78,686,580 (GRCm39) probably null Het
Ccp110 T C 7: 118,321,614 (GRCm39) V423A possibly damaging Het
Cdc123 A G 2: 5,809,748 (GRCm39) L221P possibly damaging Het
Cdh19 A G 1: 110,882,354 (GRCm39) V46A possibly damaging Het
Cfap57 A G 4: 118,477,568 (GRCm39) F12S probably damaging Het
Clvs1 A G 4: 9,350,857 (GRCm39) probably benign Het
Dgkh A T 14: 78,856,077 (GRCm39) V199E probably damaging Het
Dhx32 T A 7: 133,340,384 (GRCm39) probably benign Het
Dpf3 G T 12: 83,417,385 (GRCm39) S29* probably null Het
Efcab7 C A 4: 99,719,780 (GRCm39) S87R probably damaging Het
Fam81a G A 9: 70,000,872 (GRCm39) Q291* probably null Het
Fbxo41 G T 6: 85,454,906 (GRCm39) N667K probably damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gm10313 A T 8: 46,708,462 (GRCm39) noncoding transcript Het
Gm28051 G A 12: 102,686,430 (GRCm39) Q77* probably null Het
Gm5535 T A 2: 144,016,569 (GRCm39) noncoding transcript Het
Gtf2ird1 A T 5: 134,431,038 (GRCm39) D339E probably damaging Het
Gvin3 A T 7: 106,199,864 (GRCm39) noncoding transcript Het
Igfbp7 A G 5: 77,555,608 (GRCm39) M85T possibly damaging Het
Il20ra A G 10: 19,634,691 (GRCm39) T311A possibly damaging Het
Il24 T C 1: 130,811,179 (GRCm39) probably null Het
Itch T C 2: 155,027,513 (GRCm39) F379L possibly damaging Het
Itgad T A 7: 127,789,015 (GRCm39) V488D possibly damaging Het
Itpr2 A T 6: 146,135,489 (GRCm39) M1814K possibly damaging Het
Kirrel3 A G 9: 34,855,735 (GRCm39) E92G possibly damaging Het
Lpin2 T C 17: 71,538,329 (GRCm39) V325A probably damaging Het
Lrba C T 3: 86,132,678 (GRCm39) T28M probably benign Het
Lrch3 T C 16: 32,818,883 (GRCm39) Y661H probably damaging Het
Lrfn5 C A 12: 61,886,461 (GRCm39) S83Y probably damaging Het
Lrp1 A C 10: 127,375,389 (GRCm39) L4435R probably benign Het
Lrrn1 A G 6: 107,546,305 (GRCm39) D701G probably benign Het
Map4k3 A T 17: 80,961,332 (GRCm39) Y125N probably benign Het
Mau2 A T 8: 70,480,353 (GRCm39) H273Q possibly damaging Het
Med16 A C 10: 79,742,871 (GRCm39) probably null Het
Mmp17 A G 5: 129,679,229 (GRCm39) H376R possibly damaging Het
Nlrp12 G A 7: 3,289,613 (GRCm39) H300Y possibly damaging Het
Nlrp3 A T 11: 59,439,554 (GRCm39) Y377F probably damaging Het
Notch2 T C 3: 98,008,952 (GRCm39) probably null Het
Nudcd1 A T 15: 44,240,039 (GRCm39) C500* probably null Het
Or52z14 T C 7: 103,253,197 (GRCm39) I112T probably damaging Het
Or5d37 A G 2: 87,923,353 (GRCm39) V309A probably damaging Het
Or6b6 T A 7: 106,570,778 (GRCm39) M258L probably benign Het
Or8g23 A T 9: 38,971,827 (GRCm39) M45K probably benign Het
Or8h9 A T 2: 86,789,698 (GRCm39) Y35N probably damaging Het
Pcdhb20 T A 18: 37,639,824 (GRCm39) N783K probably benign Het
Pclo T A 5: 14,727,896 (GRCm39) probably benign Het
Pdyn T A 2: 129,530,021 (GRCm39) D216V probably damaging Het
Phldb3 A T 7: 24,324,110 (GRCm39) I495F possibly damaging Het
Pmpca A T 2: 26,285,178 (GRCm39) I468F probably damaging Het
Pmpcb G A 5: 21,961,441 (GRCm39) R399H probably damaging Het
Polrmt G T 10: 79,572,421 (GRCm39) H1145N probably damaging Het
Proser1 A G 3: 53,371,727 (GRCm39) D11G probably damaging Het
Ptprc A G 1: 138,022,037 (GRCm39) S544P probably damaging Het
Pwp2 A C 10: 78,009,527 (GRCm39) L797R possibly damaging Het
Rbm20 G A 19: 53,840,100 (GRCm39) A1030T probably damaging Het
Rdh7 T C 10: 127,721,691 (GRCm39) Y195C probably benign Het
Rev3l T A 10: 39,699,326 (GRCm39) D1274E probably benign Het
Scfd2 G T 5: 74,366,982 (GRCm39) H639Q probably benign Het
Sell T A 1: 163,892,887 (GRCm39) H34Q possibly damaging Het
Senp8 A C 9: 59,644,504 (GRCm39) D204E probably benign Het
Setd2 A G 9: 110,377,226 (GRCm39) D347G probably benign Het
Sh2b1 T A 7: 126,067,975 (GRCm39) R560W probably damaging Het
Slc36a3 T A 11: 55,039,399 (GRCm39) K76N probably damaging Het
Slc6a9 A T 4: 117,713,205 (GRCm39) Y60F probably damaging Het
Slfn10-ps C T 11: 82,921,207 (GRCm39) noncoding transcript Het
Spata31d1d G A 13: 59,875,334 (GRCm39) H734Y probably benign Het
Spmip10 G T 18: 56,725,494 (GRCm39) M46I possibly damaging Het
Spsb1 T A 4: 149,991,612 (GRCm39) probably benign Het
Sptbn5 T A 2: 119,882,258 (GRCm39) noncoding transcript Het
Sugp2 G A 8: 70,712,462 (GRCm39) V1026I possibly damaging Het
Syt14 T A 1: 192,613,285 (GRCm39) probably benign Het
Sytl1 G A 4: 132,982,893 (GRCm39) Q373* probably null Het
Trim38 T A 13: 23,975,312 (GRCm39) L417Q probably damaging Het
Ttll1 T C 15: 83,380,597 (GRCm39) H256R probably damaging Het
Ttyh2 A T 11: 114,587,583 (GRCm39) T195S probably benign Het
Unc119b A G 5: 115,263,553 (GRCm39) L217P probably damaging Het
Usp6nl A G 2: 6,425,714 (GRCm39) K152E probably benign Het
Vcam1 T C 3: 115,910,941 (GRCm39) R486G probably benign Het
Vmn1r225 G A 17: 20,722,831 (GRCm39) G91S possibly damaging Het
Vmn2r1 A C 3: 63,997,544 (GRCm39) Q400P possibly damaging Het
Vmn2r87 A T 10: 130,314,422 (GRCm39) L388Q probably damaging Het
Wnk1 A T 6: 119,942,696 (GRCm39) probably benign Het
Zfp239 A G 6: 117,847,478 (GRCm39) probably benign Het
Zfp688 T C 7: 127,018,327 (GRCm39) Y266C probably damaging Het
Zfp850 A T 7: 27,689,658 (GRCm39) C183* probably null Het
Zscan29 T C 2: 120,999,676 (GRCm39) probably null 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
IGL02172:Ptprn2 APN 12 116,837,317 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TCATCAGGAGCAAGGCTTTC -3'
(R):5'- GTACACATGACTAGCCACCTGC -3'

Sequencing Primer
(F):5'- GAGCAAGGCTTTCCCCCAC -3'
(R):5'- TAGCCACCTGCACTGACTG -3'
Posted On 2016-04-27