Incidental Mutation 'R1670:Ptprn2'
ID 187566
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 039706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R1670 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 116685792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 84 (T84P)
Ref Sequence ENSEMBL: ENSMUSP00000139978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]
AlphaFold P80560
Predicted Effect possibly damaging
Transcript: ENSMUST00000070733
AA Change: T84P

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: T84P

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: ENSMUST00000185505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189009
Predicted Effect possibly damaging
Transcript: ENSMUST00000190247
AA Change: T84P

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: T84P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191106
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (74/76)
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
Abcc9 A G 6: 142,540,448 (GRCm39) V1497A possibly damaging Het
Adam15 T C 3: 89,255,817 (GRCm39) probably benign Het
Angel2 T A 1: 190,674,360 (GRCm39) S371T probably benign Het
Atr T A 9: 95,743,509 (GRCm39) N49K probably benign Het
Bace2 G A 16: 97,213,335 (GRCm39) M228I probably damaging Het
Bdp1 A C 13: 100,163,941 (GRCm39) probably null Het
Calr A T 8: 85,570,748 (GRCm39) D302E probably benign Het
Camta1 T C 4: 151,164,228 (GRCm39) D340G probably benign Het
Car11 C T 7: 45,352,949 (GRCm39) T236I possibly damaging Het
Cfap69 A T 5: 5,636,409 (GRCm39) S275T probably benign Het
Cib2 G A 9: 54,455,653 (GRCm39) R104W probably damaging Het
CN725425 T C 15: 91,130,018 (GRCm39) S294P possibly damaging Het
Coro7 G A 16: 4,446,097 (GRCm39) S876F possibly damaging Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Dennd6b C A 15: 89,069,540 (GRCm39) probably benign Het
Dhx30 A T 9: 109,914,341 (GRCm39) Y979N possibly damaging Het
Dnaaf9 G A 2: 130,554,299 (GRCm39) P187S probably damaging Het
Dnah8 A T 17: 30,944,098 (GRCm39) I1772F probably damaging Het
Dync2h1 A T 9: 6,993,942 (GRCm39) I3976N possibly damaging Het
Ebi3 T C 17: 56,261,479 (GRCm39) I125T probably damaging Het
Elfn2 C T 15: 78,556,568 (GRCm39) A660T probably benign Het
F12 C T 13: 55,569,346 (GRCm39) C209Y probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T A 7: 129,782,187 (GRCm39) D413V probably damaging Het
Gdf10 T A 14: 33,654,000 (GRCm39) I169N possibly damaging Het
Gdnf T C 15: 7,845,130 (GRCm39) V41A probably benign Het
Gm9857 A T 3: 108,847,478 (GRCm39) probably benign Het
Gpatch11 A G 17: 79,146,529 (GRCm39) E58G possibly damaging Het
Gpr55 A G 1: 85,869,137 (GRCm39) V148A possibly damaging Het
Gucy1b1 A G 3: 81,952,767 (GRCm39) I222T probably benign Het
Hnf4a T C 2: 163,404,496 (GRCm39) S227P probably damaging Het
Hsfy2 A G 1: 56,675,548 (GRCm39) S330P possibly damaging Het
Hycc1 T A 5: 24,204,989 (GRCm39) M1L possibly damaging Het
Ift122 T C 6: 115,900,844 (GRCm39) V1054A probably benign Het
Il27 T A 7: 126,188,647 (GRCm39) E175D probably benign Het
Lactb2 A T 1: 13,730,641 (GRCm39) S12T probably damaging Het
Lrfn2 T C 17: 49,403,605 (GRCm39) V576A probably benign Het
Mansc4 C G 6: 146,976,689 (GRCm39) R309T possibly damaging Het
Med12l AACAGCA AACAGCAACAGCA 3: 59,183,379 (GRCm39) probably benign Het
Mrpl16 C T 19: 11,751,959 (GRCm39) R240* probably null Het
Muc17 A G 5: 137,172,843 (GRCm39) V70A probably benign Het
Ndnf A G 6: 65,680,054 (GRCm39) D111G probably benign Het
Nek4 T C 14: 30,704,384 (GRCm39) F688S probably damaging Het
Nkx2-6 T A 14: 69,412,126 (GRCm39) M98K probably benign Het
Nup188 T C 2: 30,230,667 (GRCm39) S1402P probably benign Het
Or10j2 T A 1: 173,098,467 (GRCm39) S242T probably damaging Het
Or2t48 A T 11: 58,420,237 (GRCm39) S192T probably damaging Het
Or4f14b C T 2: 111,775,264 (GRCm39) C179Y probably damaging Het
Or52i2 A G 7: 102,319,609 (GRCm39) T161A possibly damaging Het
Or5ac23 A T 16: 59,149,607 (GRCm39) N88K probably benign Het
Or5ac24 T C 16: 59,165,790 (GRCm39) I91M possibly damaging Het
Or5m9b T A 2: 85,905,594 (GRCm39) V170D probably benign Het
Parp10 A T 15: 76,126,270 (GRCm39) V306E probably benign Het
Pcnx3 A G 19: 5,723,343 (GRCm39) L1284P probably damaging Het
Pld1 A T 3: 28,103,389 (GRCm39) I365F probably benign Het
Pnisr A G 4: 21,865,893 (GRCm39) D294G probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Rln1 C T 19: 29,309,468 (GRCm39) E104K possibly damaging Het
Rnf38 A G 4: 44,138,681 (GRCm39) S271P probably damaging Het
Rngtt A G 4: 33,368,660 (GRCm39) T398A probably benign Het
Rprd2 G T 3: 95,672,115 (GRCm39) T1096K probably damaging Het
Sema3e C T 5: 14,212,199 (GRCm39) probably benign Het
Sema5a T A 15: 32,548,945 (GRCm39) C140S probably damaging Het
Shpk A C 11: 73,113,757 (GRCm39) D390A probably benign Het
Slc22a20 C T 19: 6,022,876 (GRCm39) probably benign Het
Steap2 A G 5: 5,727,393 (GRCm39) V314A possibly damaging Het
Stxbp5l A G 16: 37,111,289 (GRCm39) probably null Het
Tgm3 G T 2: 129,883,688 (GRCm39) E449* probably null Het
Tmem68 A C 4: 3,560,627 (GRCm39) L186V probably damaging Het
Ttc41 T A 10: 86,612,116 (GRCm39) W1130R possibly damaging Het
Ttpal T C 2: 163,457,286 (GRCm39) F253L possibly damaging Het
Vmn2r99 G T 17: 19,582,514 (GRCm39) V40F probably benign Het
Xkr9 G A 1: 13,771,167 (GRCm39) V228M probably damaging Het
Zc3h7b C T 15: 81,661,268 (GRCm39) A369V 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
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
Predicted Primers PCR Primer
(F):5'- AGTGCTCTCTGCTGCTGTCTGAAG -3'
(R):5'- AGGTGAGTGACTGTCCTAACCACTG -3'

Sequencing Primer
(F):5'- GCTGTCTGAAGCTCTGCC -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2014-05-09