Incidental Mutation 'R4193:Ptprn2'
ID 318436
Institutional Source Beutler Lab
Gene Symbol Ptprn2
Ensembl Gene ENSMUSG00000056553
Gene Name protein tyrosine phosphatase, receptor type, N polypeptide 2
Synonyms phogrin, 4930425H11Rik, IA-2 beta, PTP-NP, IA-2beta
MMRRC Submission 041024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R4193 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 116485720-117276849 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116901008 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 548 (I548V)
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: I548V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: I548V

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: I548V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: I548V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 36,096,579 (GRCm38) R178L possibly damaging Het
Abcb1a G A 5: 8,715,068 (GRCm38) probably null Het
Acap3 A G 4: 155,901,777 (GRCm38) T285A probably benign Het
Adam20 A T 8: 40,795,315 (GRCm38) N154I probably damaging Het
Adamts8 A T 9: 30,959,308 (GRCm38) D693V probably damaging Het
Ak9 A G 10: 41,335,945 (GRCm38) H226R probably benign Het
Atp6v1b1 A G 6: 83,743,103 (GRCm38) S7G probably benign Het
Atxn7l3b C A 10: 112,928,705 (GRCm38) L6F probably damaging Het
Bco1 C T 8: 117,113,469 (GRCm38) T242M probably damaging Het
Btla A G 16: 45,250,482 (GRCm38) N268S probably benign Het
Capn9 A G 8: 124,600,486 (GRCm38) S292G probably null Het
Col7a1 G A 9: 108,956,672 (GRCm38) S403N unknown Het
Ctps A G 4: 120,548,138 (GRCm38) V369A probably damaging Het
Ddx19b A T 8: 111,011,348 (GRCm38) L256Q probably damaging Het
Dnah7a T C 1: 53,447,334 (GRCm38) K3356R probably benign Het
Dpf2 G A 19: 5,907,016 (GRCm38) R60* probably null Het
Eif3h A T 15: 51,799,299 (GRCm38) V117E probably damaging Het
Fam234a A T 17: 26,213,860 (GRCm38) L467Q probably damaging Het
Fez1 T A 9: 36,843,727 (GRCm38) S7R probably damaging Het
Fh1 T A 1: 175,614,841 (GRCm38) M148L possibly damaging Het
Gabra2 G A 5: 71,007,998 (GRCm38) P210S probably benign Het
Gfm1 T G 3: 67,431,720 (GRCm38) I52S probably damaging Het
Gm13089 A T 4: 143,698,333 (GRCm38) L180Q probably damaging Het
Gm281 C T 14: 13,914,416 (GRCm38) V9I probably benign Het
Gm6729 A T 10: 86,540,619 (GRCm38) noncoding transcript Het
Gpr152 T G 19: 4,142,907 (GRCm38) L149R probably damaging Het
Hist3h2ba T A 11: 58,949,241 (GRCm38) L101Q probably damaging Het
Ifnar2 A T 16: 91,404,344 (GRCm38) D491V probably damaging Het
Igkv14-126 T C 6: 67,896,383 (GRCm38) S32P possibly damaging Het
Il1rl2 A G 1: 40,365,048 (GRCm38) E443G probably damaging Het
Impg2 A G 16: 56,268,411 (GRCm38) D1100G probably benign Het
Itga2 G A 13: 114,886,649 (GRCm38) R56* probably null Het
Itga2b A G 11: 102,469,685 (GRCm38) S10P probably benign Het
Jmjd1c C T 10: 67,096,681 (GRCm38) probably benign Het
Kdm7a T G 6: 39,169,096 (GRCm38) K299T probably damaging Het
Large2 T A 2: 92,365,359 (GRCm38) D632V probably damaging Het
Lrp2 C T 2: 69,467,143 (GRCm38) C3158Y probably damaging Het
Malt1 T A 18: 65,447,675 (GRCm38) D213E probably benign Het
Nkapl T C 13: 21,467,342 (GRCm38) Q367R probably benign Het
Nwd2 T C 5: 63,807,465 (GRCm38) L1464P probably damaging Het
Olfr1016 C T 2: 85,800,018 (GRCm38) C84Y probably benign Het
Olfr1037 T A 2: 86,085,700 (GRCm38) I26F probably benign Het
Olfr1385 A C 11: 49,495,307 (GRCm38) Y258S probably damaging Het
Olfr19 A T 16: 16,673,647 (GRCm38) D111E possibly damaging Het
Olfr384 C G 11: 73,603,417 (GRCm38) T279R probably damaging Het
P2ry2 A G 7: 100,998,450 (GRCm38) V216A probably benign Het
Pcdhb1 A G 18: 37,267,146 (GRCm38) K717E probably damaging Het
Pcdhgb8 G C 18: 37,763,541 (GRCm38) D555H probably damaging Het
Pcsk6 T C 7: 66,025,308 (GRCm38) S476P probably damaging Het
Phactr3 T A 2: 178,283,152 (GRCm38) H293Q probably damaging Het
Pias1 T C 9: 62,952,004 (GRCm38) D74G possibly damaging Het
Plekhg6 T C 6: 125,373,118 (GRCm38) T286A probably benign Het
Prkag2 A C 5: 24,878,760 (GRCm38) M75R probably damaging Het
Prl7c1 T A 13: 27,776,278 (GRCm38) M94L probably benign Het
Prodh C T 16: 18,073,640 (GRCm38) V480I probably benign Het
Ptprr T C 10: 116,252,864 (GRCm38) W307R probably damaging Het
Rab29 T C 1: 131,869,962 (GRCm38) S52P possibly damaging Het
Ralgapa2 A G 2: 146,342,573 (GRCm38) F1505L probably damaging Het
Scn8a C T 15: 100,971,603 (GRCm38) A209V probably damaging Het
Senp2 G T 16: 22,046,667 (GRCm38) W580L probably damaging Het
Sept4 A T 11: 87,583,316 (GRCm38) probably null Het
Slc17a5 C A 9: 78,559,106 (GRCm38) V269L possibly damaging Het
Slc2a9 T C 5: 38,398,706 (GRCm38) N299S probably damaging Het
Slc41a2 T A 10: 83,301,221 (GRCm38) H274L probably damaging Het
Suco A T 1: 161,863,959 (GRCm38) D43E probably benign Het
Tacr2 T A 10: 62,253,179 (GRCm38) I121N probably damaging Het
Tanc2 G A 11: 105,914,062 (GRCm38) probably benign Het
Tbl1xr1 T C 3: 22,200,358 (GRCm38) F322L possibly damaging Het
Tdrd1 T A 19: 56,851,341 (GRCm38) L611* probably null Het
Tgfbr2 T C 9: 116,109,941 (GRCm38) T298A probably damaging Het
Tmprss12 T C 15: 100,289,304 (GRCm38) V217A probably damaging Het
Ttbk1 A T 17: 46,479,247 (GRCm38) C91S probably damaging Het
Vit A G 17: 78,586,826 (GRCm38) H219R probably benign Het
Vmn1r71 A T 7: 10,748,248 (GRCm38) I105K possibly damaging Het
Vmn2r57 A G 7: 41,428,239 (GRCm38) F168L probably benign Het
Zfp945 C T 17: 22,851,170 (GRCm38) probably benign Het
Other mutations in Ptprn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01695:Ptprn2 APN 12 116,841,388 (GRCm38) missense probably benign 0.02
IGL01788:Ptprn2 APN 12 116,900,987 (GRCm38) missense probably damaging 0.98
IGL02172:Ptprn2 APN 12 116,873,697 (GRCm38) splice site probably benign
IGL02339:Ptprn2 APN 12 116,722,104 (GRCm38) missense probably damaging 1.00
IGL02706:Ptprn2 APN 12 116,888,898 (GRCm38) missense probably damaging 0.96
IGL03018:Ptprn2 APN 12 117,211,943 (GRCm38) missense probably damaging 1.00
IGL03267:Ptprn2 APN 12 116,876,344 (GRCm38) nonsense probably null
BB001:Ptprn2 UTSW 12 116,841,264 (GRCm38) missense probably benign 0.00
BB011:Ptprn2 UTSW 12 116,841,264 (GRCm38) missense probably benign 0.00
IGL03014:Ptprn2 UTSW 12 117,248,688 (GRCm38) missense probably damaging 1.00
R0066:Ptprn2 UTSW 12 117,276,602 (GRCm38) missense probably benign 0.07
R0066:Ptprn2 UTSW 12 117,276,602 (GRCm38) missense probably benign 0.07
R0115:Ptprn2 UTSW 12 117,211,846 (GRCm38) splice site probably benign
R0131:Ptprn2 UTSW 12 116,722,091 (GRCm38) missense probably damaging 1.00
R0131:Ptprn2 UTSW 12 116,722,091 (GRCm38) missense probably damaging 1.00
R0132:Ptprn2 UTSW 12 116,722,091 (GRCm38) missense probably damaging 1.00
R0481:Ptprn2 UTSW 12 117,211,846 (GRCm38) splice site probably benign
R0694:Ptprn2 UTSW 12 116,824,355 (GRCm38) missense possibly damaging 0.69
R0698:Ptprn2 UTSW 12 116,722,130 (GRCm38) nonsense probably null
R0746:Ptprn2 UTSW 12 116,901,017 (GRCm38) missense probably benign 0.00
R1127:Ptprn2 UTSW 12 117,212,008 (GRCm38) splice site probably null
R1443:Ptprn2 UTSW 12 117,253,615 (GRCm38) missense probably damaging 1.00
R1508:Ptprn2 UTSW 12 117,184,722 (GRCm38) missense probably damaging 1.00
R1664:Ptprn2 UTSW 12 117,161,709 (GRCm38) missense probably damaging 0.99
R1670:Ptprn2 UTSW 12 116,722,172 (GRCm38) missense possibly damaging 0.64
R1749:Ptprn2 UTSW 12 116,580,428 (GRCm38) missense probably benign 0.00
R2075:Ptprn2 UTSW 12 117,247,717 (GRCm38) missense probably benign 0.01
R3054:Ptprn2 UTSW 12 116,722,133 (GRCm38) missense probably damaging 1.00
R3107:Ptprn2 UTSW 12 116,876,180 (GRCm38) missense probably benign 0.04
R3109:Ptprn2 UTSW 12 116,876,180 (GRCm38) missense probably benign 0.04
R3552:Ptprn2 UTSW 12 116,888,877 (GRCm38) missense probably benign 0.00
R4523:Ptprn2 UTSW 12 116,876,000 (GRCm38) missense probably damaging 1.00
R4706:Ptprn2 UTSW 12 116,872,094 (GRCm38) missense probably benign 0.02
R4719:Ptprn2 UTSW 12 116,824,396 (GRCm38) missense possibly damaging 0.95
R4726:Ptprn2 UTSW 12 117,247,773 (GRCm38) nonsense probably null
R4872:Ptprn2 UTSW 12 117,161,694 (GRCm38) missense probably damaging 1.00
R4891:Ptprn2 UTSW 12 117,233,365 (GRCm38) splice site probably null
R4970:Ptprn2 UTSW 12 117,276,595 (GRCm38) missense probably damaging 1.00
R5208:Ptprn2 UTSW 12 116,858,928 (GRCm38) missense probably damaging 1.00
R5287:Ptprn2 UTSW 12 117,211,862 (GRCm38) missense probably damaging 1.00
R5419:Ptprn2 UTSW 12 117,184,647 (GRCm38) missense probably damaging 0.99
R6035:Ptprn2 UTSW 12 117,255,595 (GRCm38) missense probably damaging 1.00
R6035:Ptprn2 UTSW 12 117,255,595 (GRCm38) missense probably damaging 1.00
R6180:Ptprn2 UTSW 12 116,859,119 (GRCm38) missense probably benign 0.05
R6277:Ptprn2 UTSW 12 116,876,180 (GRCm38) missense probably benign 0.04
R6465:Ptprn2 UTSW 12 117,269,589 (GRCm38) missense probably damaging 0.96
R6488:Ptprn2 UTSW 12 116,872,038 (GRCm38) missense probably benign 0.13
R6555:Ptprn2 UTSW 12 117,227,200 (GRCm38) missense probably damaging 1.00
R6908:Ptprn2 UTSW 12 116,888,888 (GRCm38) missense probably benign 0.06
R7120:Ptprn2 UTSW 12 116,872,056 (GRCm38) missense probably benign 0.01
R7229:Ptprn2 UTSW 12 117,227,225 (GRCm38) splice site probably null
R7237:Ptprn2 UTSW 12 117,161,727 (GRCm38) missense probably benign 0.03
R7304:Ptprn2 UTSW 12 117,248,544 (GRCm38) missense probably damaging 1.00
R7355:Ptprn2 UTSW 12 116,858,951 (GRCm38) missense probably benign
R7460:Ptprn2 UTSW 12 117,248,681 (GRCm38) missense probably benign 0.05
R7577:Ptprn2 UTSW 12 116,485,866 (GRCm38) start codon destroyed probably null
R7658:Ptprn2 UTSW 12 116,722,119 (GRCm38) missense probably benign 0.01
R7666:Ptprn2 UTSW 12 116,841,320 (GRCm38) missense probably benign 0.10
R7924:Ptprn2 UTSW 12 116,841,264 (GRCm38) missense probably benign 0.00
R8219:Ptprn2 UTSW 12 117,184,737 (GRCm38) missense probably benign 0.30
R8716:Ptprn2 UTSW 12 117,255,548 (GRCm38) missense possibly damaging 0.73
R9235:Ptprn2 UTSW 12 117,269,651 (GRCm38) critical splice donor site probably null
R9605:Ptprn2 UTSW 12 117,161,658 (GRCm38) missense probably benign 0.13
X0066:Ptprn2 UTSW 12 117,184,740 (GRCm38) missense probably benign 0.16
X0066:Ptprn2 UTSW 12 117,161,760 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAAACAGAGCCCTAGTATCC -3'
(R):5'- CTCTGCCATGAACTGCTGTG -3'

Sequencing Primer
(F):5'- GTATCCAAAAGAAACACCACGAGGG -3'
(R):5'- CTGCCATGAACTGCTGTGAACATG -3'
Posted On 2015-06-10