Incidental Mutation 'R7304:Ptprn2'
ID 567186
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 045365-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R7304 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117212164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 862 (V862D)
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: V862D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: V862D

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 damaging
Transcript: ENSMUST00000190247
AA Change: V862D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: V862D

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,247,203 (GRCm39) S2317G probably benign Het
Acap2 A C 16: 30,926,934 (GRCm39) L502R probably benign Het
Amotl2 A G 9: 102,605,549 (GRCm39) E467G probably damaging Het
Apbb1ip A T 2: 22,743,147 (GRCm39) probably null Het
Armc9 C G 1: 86,090,437 (GRCm39) D77E probably benign Het
Art1 T A 7: 101,755,531 (GRCm39) S8T possibly damaging Het
Asic5 G A 3: 81,916,872 (GRCm39) A321T possibly damaging Het
Astn2 A G 4: 66,103,612 (GRCm39) I267T unknown Het
Bmp8a T C 4: 123,236,182 (GRCm39) N107S probably benign Het
Card14 T A 11: 119,228,573 (GRCm39) L633Q probably damaging Het
Chpf C T 1: 75,455,698 (GRCm39) V18M possibly damaging Het
Cog7 T C 7: 121,536,362 (GRCm39) I493V probably benign Het
Col3a1 A T 1: 45,386,971 (GRCm39) N1394I unknown Het
Crybg1 C T 10: 43,873,254 (GRCm39) D1285N probably benign Het
Depdc7 A G 2: 104,553,463 (GRCm39) V395A possibly damaging Het
Dido1 G A 2: 180,329,286 (GRCm39) L379F probably damaging Het
Dnajc13 G T 9: 104,115,713 (GRCm39) T32N probably benign Het
Dok2 T A 14: 71,013,468 (GRCm39) S133R probably benign Het
Ehbp1l1 C T 19: 5,766,410 (GRCm39) R1311H probably damaging Het
Gm3099 A T 14: 15,346,488 (GRCm39) N118I probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Heg1 G A 16: 33,581,160 (GRCm39) A13T possibly damaging Het
Ifi209 A T 1: 173,470,156 (GRCm39) Y248F possibly damaging Het
Irag1 T C 7: 110,498,931 (GRCm39) T367A possibly damaging Het
Itgb3bp C G 4: 99,657,758 (GRCm39) E169Q probably damaging Het
Kcna2 A G 3: 107,012,066 (GRCm39) T216A probably benign Het
Kcnj6 A T 16: 94,742,042 (GRCm39) M10K probably benign Het
Krt17 T G 11: 100,148,163 (GRCm39) Q397P probably benign Het
Lrtm1 T A 14: 28,744,075 (GRCm39) M181K probably damaging Het
Map3k5 A G 10: 19,975,301 (GRCm39) H741R probably damaging Het
Mier1 T A 4: 102,996,599 (GRCm39) Y120* probably null Het
Myh14 T A 7: 44,279,415 (GRCm39) T922S probably benign Het
Nfkbie A T 17: 45,871,067 (GRCm39) I240F possibly damaging Het
Npas3 C A 12: 54,115,824 (GRCm39) H915Q probably damaging Het
Nrg2 A T 18: 36,178,994 (GRCm39) V314E probably benign Het
Or2z9 T A 8: 72,854,190 (GRCm39) Y195* probably null Het
Pds5a T C 5: 65,777,077 (GRCm39) N28S probably damaging Het
Pira1 T C 7: 3,740,493 (GRCm39) T243A probably damaging Het
Pkhd1l1 A T 15: 44,361,878 (GRCm39) N517I possibly damaging Het
Plekhb1 T C 7: 100,294,874 (GRCm39) Y99C probably benign Het
Plpp6 T C 19: 28,941,617 (GRCm39) S73P probably benign Het
Polb T C 8: 23,129,975 (GRCm39) N199S probably benign Het
Ppp1r13b T C 12: 111,838,840 (GRCm39) N13D possibly damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Rassf4 T C 6: 116,617,278 (GRCm39) I242M probably damaging Het
Rnf19a G A 15: 36,254,598 (GRCm39) T320I probably damaging Het
Sctr A T 1: 119,949,970 (GRCm39) E53V probably damaging Het
Srcin1 T C 11: 97,442,519 (GRCm39) D103G probably benign Het
St3gal3 T C 4: 117,814,633 (GRCm39) Q220R Het
Stk40 G A 4: 126,019,483 (GRCm39) E86K probably benign Het
Tas2r104 T A 6: 131,662,005 (GRCm39) I235F possibly damaging Het
Terf2ip T C 8: 112,738,280 (GRCm39) V56A possibly damaging Het
Thsd7b A G 1: 130,030,890 (GRCm39) N1075S probably benign Het
Trak1 A G 9: 121,245,278 (GRCm39) Y51C probably benign Het
Trav16n T A 14: 53,588,859 (GRCm39) V45E probably benign Het
Ttc6 T C 12: 57,622,837 (GRCm39) S79P probably damaging Het
Unc79 C T 12: 103,029,449 (GRCm39) T484M probably damaging Het
Usp49 T C 17: 47,983,796 (GRCm39) V267A possibly damaging Het
Vldlr T A 19: 27,216,004 (GRCm39) D305E possibly damaging Het
Vmn1r226 G T 17: 20,908,011 (GRCm39) C81F probably damaging Het
Vmn1r73 T C 7: 11,490,824 (GRCm39) V214A probably damaging Het
Vmn2r5 T C 3: 64,411,671 (GRCm39) N299S probably damaging Het
Vwa3b T C 1: 37,203,586 (GRCm39) L55S probably damaging Het
Wdr90 T C 17: 26,070,480 (GRCm39) D1105G probably benign Het
Zbtb38 A G 9: 96,569,480 (GRCm39) S535P probably damaging Het
Zfp329 T C 7: 12,544,826 (GRCm39) I233V probably damaging Het
Zfp579 T A 7: 4,997,582 (GRCm39) T110S 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
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'- TGTGTCCCCTGATCTAAACCAG -3'
(R):5'- CAAAACCTGAGAGACCTGGC -3'

Sequencing Primer
(F):5'- CCAGCTAAACTCAGAGCAGAGG -3'
(R):5'- TAGTCGCTACAGTCTGCAGCATG -3'
Posted On 2019-06-26