Incidental Mutation 'R7120:Ptprn2'
ID 551954
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 045209-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R7120 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 116835676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 337 (E337A)
Ref Sequence ENSEMBL: ENSMUSP00000064046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]
AlphaFold P80560
Predicted Effect probably benign
Transcript: ENSMUST00000070733
AA Change: E337A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: E337A

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 probably benign
Transcript: ENSMUST00000190247
AA Change: E337A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: E337A

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik A T 3: 36,536,016 (GRCm39) Q94L unknown Het
4933411K16Rik C T 19: 42,041,112 (GRCm39) A81V probably benign Het
Actr3 A C 1: 125,331,169 (GRCm39) Y273* probably null Het
Aoc1 T A 6: 48,883,531 (GRCm39) I469N probably damaging Het
Arhgef28 A T 13: 98,081,047 (GRCm39) L1270Q probably damaging Het
Atp2c1 G A 9: 105,297,385 (GRCm39) Q780* probably null Het
Bbs10 T C 10: 111,135,310 (GRCm39) V141A possibly damaging Het
Bivm A T 1: 44,165,606 (GRCm39) T19S probably benign Het
Cacna1h T G 17: 25,610,481 (GRCm39) H675P probably benign Het
Cadps T A 14: 12,439,919 (GRCm38) L1204F probably damaging Het
Cald1 T C 6: 34,663,011 (GRCm39) probably null Het
Calr A G 8: 85,569,457 (GRCm39) M357T probably damaging Het
Ccni A T 5: 93,331,190 (GRCm39) Y260* probably null Het
Csrnp3 C A 2: 65,853,354 (GRCm39) T594K probably damaging Het
Dek A T 13: 47,253,659 (GRCm39) M152K unknown Het
Depdc1b T C 13: 108,498,781 (GRCm39) W155R probably benign Het
Ehd1 A G 19: 6,347,591 (GRCm39) K315R probably benign Het
Epn3 C A 11: 94,383,254 (GRCm39) R323S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxo10 T A 4: 45,040,533 (GRCm39) K891* probably null Het
Fras1 G T 5: 96,900,819 (GRCm39) G3013* probably null Het
Gbp2b A G 3: 142,312,507 (GRCm39) T297A probably benign Het
Gbp7 T C 3: 142,249,734 (GRCm39) S402P probably damaging Het
Gclc T C 9: 77,694,032 (GRCm39) Y329H probably damaging Het
Gfpt1 A G 6: 87,064,375 (GRCm39) H655R probably benign Het
Gm4787 C A 12: 81,425,260 (GRCm39) M299I probably benign Het
Grb7 C A 11: 98,345,817 (GRCm39) R532S probably benign Het
Hmcn1 A T 1: 150,576,292 (GRCm39) I2066N probably damaging Het
Hnrnpll T C 17: 80,341,486 (GRCm39) T518A probably benign Het
Hps3 G A 3: 20,065,705 (GRCm39) R712W probably damaging Het
Hspd1 A G 1: 55,118,388 (GRCm39) V406A probably benign Het
Igkv2-112 T C 6: 68,197,510 (GRCm39) F61L probably benign Het
Iqcf5 G A 9: 106,392,995 (GRCm39) R84H probably damaging Het
Itgad T A 7: 127,773,146 (GRCm39) M1K probably null Het
Kmt2d A G 15: 98,758,946 (GRCm39) S1292P unknown Het
Macc1 C A 12: 119,409,480 (GRCm39) Q83K possibly damaging Het
Map3k4 G T 17: 12,490,354 (GRCm39) A359E probably damaging Het
Mfap3 T A 11: 57,419,043 (GRCm39) C68S probably damaging Het
Mipep C T 14: 61,112,696 (GRCm39) R660C possibly damaging Het
Morc2b A T 17: 33,354,787 (GRCm39) L995Q probably damaging Het
Mrc1 A G 2: 14,313,508 (GRCm39) N913S probably damaging Het
N4bp1 C A 8: 87,587,495 (GRCm39) C481F probably benign Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Nup214 T A 2: 31,941,054 (GRCm39) V29E probably benign Het
Or1e30 A T 11: 73,677,940 (GRCm39) M59L probably damaging Het
Or8c11 T C 9: 38,289,945 (GRCm39) L250P probably damaging Het
Orai1 A G 5: 123,167,535 (GRCm39) E236G possibly damaging Het
P2rx7 A G 5: 122,819,357 (GRCm39) Y593C probably benign Het
Pcbp2 A G 15: 102,383,113 (GRCm39) D77G possibly damaging Het
Pcdha8 G A 18: 37,126,840 (GRCm39) V441M possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plaa A G 4: 94,470,919 (GRCm39) S406P possibly damaging Het
Plekhh1 C A 12: 79,117,713 (GRCm39) P903Q probably benign Het
Plekhh3 T C 11: 101,059,064 (GRCm39) E92G probably damaging Het
Ptpn9 T C 9: 56,967,166 (GRCm39) F463S probably damaging Het
Rubcn C T 16: 32,656,839 (GRCm39) R527Q probably damaging Het
Samd3 C T 10: 26,106,864 (GRCm39) T73M possibly damaging Het
Sfxn4 T A 19: 60,840,477 (GRCm39) K173* probably null Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Son T G 16: 91,467,414 (GRCm39) N2258K unknown Het
Sspo A T 6: 48,442,505 (GRCm39) H2000L probably benign Het
Syne1 C T 10: 5,243,971 (GRCm39) S2731N probably benign Het
Syt6 T C 3: 103,494,673 (GRCm39) Y213H probably damaging Het
Tkt A G 14: 30,281,779 (GRCm39) N99S probably benign Het
Tlcd3b T C 7: 126,428,505 (GRCm39) L221P probably damaging Het
Tmem258 G A 19: 10,181,602 (GRCm39) probably benign Het
Tnks1bp1 T C 2: 84,902,441 (GRCm39) S1702P probably damaging Het
Tpte A G 8: 22,817,689 (GRCm39) D225G probably damaging Het
Trak1 T A 9: 121,289,564 (GRCm39) F625L probably benign Het
Ttc33 G T 15: 5,241,488 (GRCm39) C77F probably benign Het
Ugt1a2 A G 1: 88,128,522 (GRCm39) H55R probably damaging Het
Vmn1r169 G T 7: 23,277,444 (GRCm39) V279L probably benign Het
Vmn2r25 T C 6: 123,805,394 (GRCm39) K488E possibly damaging Het
Vmn2r8 A T 5: 108,956,504 (GRCm39) D39E possibly 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
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
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
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'- GGGCTCTATGTCCAGCTAAAC -3'
(R):5'- TCTGCATGGCATGGTCTCAC -3'

Sequencing Primer
(F):5'- CCAAGCCAGGCTACTTCTTATG -3'
(R):5'- ATGGCATGGTCTCACTCCTTC -3'
Posted On 2019-05-15