Incidental Mutation 'R7666:Ptprn2'
ID 591944
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 045705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R7666 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116804940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 152 (R152S)
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: R152S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: R152S

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 possibly damaging
Transcript: ENSMUST00000190247
AA Change: R152S

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: R152S

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 0.1415 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 G A 4: 139,361,268 (GRCm39) V72M probably damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atl3 T C 19: 7,487,405 (GRCm39) S107P probably benign Het
Brpf3 T C 17: 29,029,546 (GRCm39) L502P possibly damaging Het
C6 T A 15: 4,818,987 (GRCm39) S440T probably damaging Het
Car3 A G 3: 14,935,124 (GRCm39) H177R probably benign Het
Ccdc148 A G 2: 58,824,512 (GRCm39) W310R probably damaging Het
Cchcr1 C T 17: 35,837,383 (GRCm39) T401I probably benign Het
Cdk13 G A 13: 17,947,161 (GRCm39) probably benign Het
Celsr2 A G 3: 108,305,904 (GRCm39) S2067P probably benign Het
Chrng A T 1: 87,137,175 (GRCm39) T278S probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Clec14a T A 12: 58,314,543 (GRCm39) T360S probably benign Het
Cr2 A G 1: 194,836,533 (GRCm39) Y877H probably damaging Het
Crybg3 A T 16: 59,379,700 (GRCm39) L518* probably null Het
Cyp2c38 A T 19: 39,426,686 (GRCm39) V205D possibly damaging Het
Dlg5 G A 14: 24,207,867 (GRCm39) P1113L probably damaging Het
Dnah7a A T 1: 53,586,456 (GRCm39) V1465E probably benign Het
Fbn1 C T 2: 125,148,391 (GRCm39) C2619Y probably damaging Het
Fbxl4 A G 4: 22,376,869 (GRCm39) T102A probably benign Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Gimap8 A C 6: 48,636,089 (GRCm39) N618T probably damaging Het
Gk5 T A 9: 96,035,160 (GRCm39) F286L probably damaging Het
Gucy2c G A 6: 136,674,966 (GRCm39) S1039L probably benign Het
Hmcn2 C T 2: 31,270,245 (GRCm39) P1161S probably damaging Het
Hnrnpa2b1 A T 6: 51,443,917 (GRCm39) V78E possibly damaging Het
Ltbp3 C T 19: 5,797,034 (GRCm39) S387L possibly damaging Het
Mrpl48 A G 7: 100,214,408 (GRCm39) V64A probably benign Het
Muc16 T C 9: 18,469,723 (GRCm39) Y7284C probably damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Myh4 A T 11: 67,147,107 (GRCm39) D1584V probably damaging Het
Myl7 A G 11: 5,847,140 (GRCm39) F138L possibly damaging Het
Nek5 T C 8: 22,580,533 (GRCm39) K395R probably benign Het
Or10ak7 T A 4: 118,791,461 (GRCm39) T195S probably damaging Het
Or2t6 A T 14: 14,176,075 (GRCm38) D2E probably benign Het
Or5b12 A G 19: 12,897,526 (GRCm39) L49P probably damaging Het
Phf7 C T 14: 30,962,311 (GRCm39) E165K probably damaging Het
Pnpla6 A G 8: 3,591,591 (GRCm39) Y1213C probably benign Het
Ppp1r9a A T 6: 5,143,238 (GRCm39) K1005N probably benign Het
Ppp2r3d A T 9: 124,440,873 (GRCm38) D8E probably damaging Het
Pramel24 A T 4: 143,455,085 (GRCm39) Y461F probably benign Het
Smc5 A T 19: 23,206,381 (GRCm39) D724E probably benign Het
Snx30 T C 4: 59,885,047 (GRCm39) V229A probably benign Het
Spata31d1c A C 13: 65,183,814 (GRCm39) N452T probably benign Het
Tacc2 C T 7: 130,318,544 (GRCm39) probably benign Het
Thsd7a C T 6: 12,379,437 (GRCm39) D996N Het
Tubb2b A G 13: 34,312,118 (GRCm39) L225P probably damaging Het
Ubr4 A G 4: 139,140,791 (GRCm39) T1237A possibly damaging Het
Unc50 G A 1: 37,470,496 (GRCm39) R40Q possibly damaging Het
Usp31 T C 7: 121,248,404 (GRCm39) E1013G possibly damaging Het
Vwa5a A G 9: 38,645,259 (GRCm39) D448G probably benign Het
Wnt5a T C 14: 28,240,329 (GRCm39) S160P possibly damaging Het
Zfp618 T A 4: 63,050,954 (GRCm39) Y578* probably null Het
Zfp804a C T 2: 82,089,404 (GRCm39) Q1078* probably null Het
Zfp808 C T 13: 62,319,225 (GRCm39) T131M probably benign 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
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
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'- GGCTCCTTAAGAAACAACACTGG -3'
(R):5'- GCTCACTCTGCAAAGATGTCTG -3'

Sequencing Primer
(F):5'- ATAGGTGTTGACCAGCAGCTCAC -3'
(R):5'- TGCAAAGATGTCTGTACCCTAC -3'
Posted On 2019-11-12