Incidental Mutation 'R3552:Ptprn2'
ID 269014
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 040669-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R3552 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116852497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 518 (Q518L)
Ref Sequence ENSEMBL: ENSMUSP00000139978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]
AlphaFold P80560
Predicted Effect probably benign
Transcript: ENSMUST00000070733
AA Change: Q518L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: Q518L

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: ENSMUST00000189009
Predicted Effect probably benign
Transcript: ENSMUST00000190247
AA Change: Q518L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: Q518L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.4%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,152,450 (GRCm39) Y866N probably damaging Het
Agk A G 6: 40,371,615 (GRCm39) T371A probably benign Het
Akna T C 4: 63,316,361 (GRCm39) M1V probably null Het
Aldh7a1 T C 18: 56,683,364 (GRCm39) probably null Het
Ankrd26 A T 6: 118,484,737 (GRCm39) L1500H probably damaging Het
Atp13a5 T A 16: 29,129,584 (GRCm39) D452V probably damaging Het
Bahcc1 C T 11: 120,167,598 (GRCm39) T1333M possibly damaging Het
Carmil3 G T 14: 55,744,859 (GRCm39) R1276L possibly damaging Het
Ccni T C 5: 93,335,620 (GRCm39) S173G probably benign Het
Chrm2 A T 6: 36,500,745 (GRCm39) I201F probably damaging Het
Col16a1 A G 4: 129,970,834 (GRCm39) T618A probably benign Het
Dele1 A G 18: 38,391,418 (GRCm39) probably benign Het
Dock2 T C 11: 34,611,787 (GRCm39) Y192C probably benign Het
Ep400 T A 5: 110,877,153 (GRCm39) E821V unknown Het
Esrrg G A 1: 187,882,387 (GRCm39) V215I probably benign Het
Evx1 A T 6: 52,293,908 (GRCm39) S359C probably damaging Het
Fcrl2 A G 3: 87,166,717 (GRCm39) I92T possibly damaging Het
Gal3st1 T A 11: 3,948,110 (GRCm39) F106I possibly damaging Het
Gm9944 T C 4: 144,179,613 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hrc G C 7: 44,985,757 (GRCm39) E303Q possibly damaging Het
Kcnh1 A G 1: 191,921,074 (GRCm39) N118D probably damaging Het
Khdrbs1 A G 4: 129,614,584 (GRCm39) I323T possibly damaging Het
Klhdc7b T C 15: 89,271,724 (GRCm39) Y869H probably benign Het
Lrrc4c T A 2: 97,460,306 (GRCm39) W311R probably damaging Het
Megf11 A G 9: 64,602,745 (GRCm39) D862G possibly damaging Het
Muc5b A G 7: 141,415,072 (GRCm39) T2673A possibly damaging Het
Muc5b A G 7: 141,421,442 (GRCm39) S4311G probably benign Het
Myo15a C T 11: 60,400,489 (GRCm39) A1767V possibly damaging Het
Neo1 T A 9: 58,801,161 (GRCm39) K1140M probably damaging Het
Oc90 T C 15: 65,750,650 (GRCm39) Q365R possibly damaging Het
Oplah C T 15: 76,186,294 (GRCm39) D734N possibly damaging Het
Or1e19 T C 11: 73,316,678 (GRCm39) I44V probably benign Het
Or4c58 A C 2: 89,674,687 (GRCm39) M210R possibly damaging Het
Or9g3 T C 2: 85,590,237 (GRCm39) N161S possibly damaging Het
Pbx1 G A 1: 167,986,362 (GRCm39) P411L possibly damaging Het
Pcdhga6 G T 18: 37,841,270 (GRCm39) R330L probably benign Het
Phox2b C A 5: 67,254,999 (GRCm39) R150L probably damaging Het
Plscr2 A G 9: 92,172,848 (GRCm39) E169G probably damaging Het
Rbl1 A T 2: 157,037,505 (GRCm39) I214K probably benign Het
Ryr1 T A 7: 28,756,422 (GRCm39) Q3464L probably damaging Het
Ryr3 T A 2: 112,582,132 (GRCm39) I2854F probably damaging Het
Shtn1 T C 19: 58,963,470 (GRCm39) Y615C probably benign Het
Sirt5 A T 13: 43,536,643 (GRCm39) N226Y probably damaging Het
Slc30a3 G A 5: 31,252,422 (GRCm39) probably benign Het
Slc5a4b A G 10: 75,917,358 (GRCm39) V226A probably damaging Het
Slf2 C A 19: 44,923,390 (GRCm39) S68* probably null Het
Smyd5 G A 6: 85,419,193 (GRCm39) E292K probably damaging Het
Spns1 A G 7: 125,969,543 (GRCm39) V512A possibly damaging Het
Sry T A Y: 2,663,141 (GRCm39) Q173L unknown Het
Ssrp1 C A 2: 84,874,736 (GRCm39) Q519K probably benign Het
Tgfbr3 T C 5: 107,287,705 (GRCm39) E498G probably damaging Het
Tnrc6b T G 15: 80,764,448 (GRCm39) L650W probably damaging Het
Tnxb A T 17: 34,937,695 (GRCm39) E3861D probably damaging Het
Trbc1 G T 6: 41,516,579 (GRCm39) probably benign Het
Trpm7 T A 2: 126,668,630 (GRCm39) probably benign Het
Usp39 G A 6: 72,314,815 (GRCm39) T197I possibly damaging Het
Vmn1r38 T C 6: 66,753,477 (GRCm39) H213R possibly damaging Het
Washc2 A G 6: 116,197,529 (GRCm39) D168G probably damaging Het
Washc4 A G 10: 83,382,720 (GRCm39) I45V probably benign Het
Zfp352 A G 4: 90,113,339 (GRCm39) E493G probably benign Het
Zfp692 C T 11: 58,200,254 (GRCm39) T170I possibly damaging Het
Zfp735 C A 11: 73,602,067 (GRCm39) S337* 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
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'- AAATATAGCAGGGCCTTGGATC -3'
(R):5'- CAAAGCCCAGGGGAATTCTC -3'

Sequencing Primer
(F):5'- CCTTGGATCAGGGCACATG -3'
(R):5'- AAAGCCCAGGGGAATTCTCCTTTC -3'
Posted On 2015-02-19