Incidental Mutation 'R8716:Ptprn2'
ID 669902
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 068569-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R8716 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117219168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 933 (D933G)
Ref Sequence ENSEMBL: ENSMUSP00000064046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]
AlphaFold P80560
Predicted Effect possibly damaging
Transcript: ENSMUST00000070733
AA Change: D933G

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: D933G

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 benign
Transcript: ENSMUST00000190247
SMART Domains Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553

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: 100.0%
  • 10x: 99.9%
  • 20x: 99.5%
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
Abca13 A G 11: 9,243,774 (GRCm39) Y1879C probably benign Het
Abce1 A T 8: 80,427,784 (GRCm39) I168N possibly damaging Het
Acan G A 7: 78,762,438 (GRCm39) R2004H probably damaging Het
Acsm4 T A 7: 119,307,883 (GRCm39) L340Q probably damaging Het
Actmap C A 7: 26,896,631 (GRCm39) P65T probably damaging Het
Adamts2 T A 11: 50,664,091 (GRCm39) N342K probably damaging Het
Adgrd1 A T 5: 129,265,435 (GRCm39) D725V possibly damaging Het
Ahnak T A 19: 8,986,438 (GRCm39) L2574Q probably damaging Het
Ank2 A T 3: 126,736,488 (GRCm39) L3132* probably null Het
Ap3b2 T G 7: 81,126,901 (GRCm39) E283A probably benign Het
Asb17 A T 3: 153,559,151 (GRCm39) L287F probably damaging Het
Atr T G 9: 95,789,468 (GRCm39) N1541K probably benign Het
Bcas3 G A 11: 85,471,868 (GRCm39) V711I probably damaging Het
Ccdc82 T G 9: 13,252,922 (GRCm39) Y262* probably null Het
Cd209d CAT C 8: 3,923,772 (GRCm39) probably null Het
Cdc23 GAGACTACCGAAGA GAGA 18: 34,784,735 (GRCm39) probably null Het
Cfap54 T A 10: 92,800,494 (GRCm39) L1571F probably benign Het
Clca3b C T 3: 144,550,355 (GRCm39) V197I probably benign Het
Cul9 T C 17: 46,838,840 (GRCm39) S932G probably benign Het
Cyp3a59 T A 5: 146,033,411 (GRCm39) D182E probably damaging Het
Ddx19a T C 8: 111,710,243 (GRCm39) E119G probably damaging Het
Dnah1 A G 14: 30,989,941 (GRCm39) probably benign Het
Dop1b T A 16: 93,577,673 (GRCm39) L1761* probably null Het
Ehd2 A G 7: 15,698,106 (GRCm39) S44P probably benign Het
Exoc2 T A 13: 31,095,227 (GRCm39) H223L probably damaging Het
Fam217a G A 13: 35,108,248 (GRCm39) probably benign Het
Farp1 A G 14: 121,479,855 (GRCm39) N382S probably benign Het
Gbf1 T A 19: 46,272,460 (GRCm39) L1633Q probably damaging Het
Gpn1 C T 5: 31,656,642 (GRCm39) T115I probably benign Het
Gstcd T C 3: 132,688,950 (GRCm39) D600G probably damaging Het
Ighv16-1 A C 12: 114,032,616 (GRCm39) M62R probably benign Het
Igsf3 T G 3: 101,334,739 (GRCm39) V272G probably damaging Het
Itgb2 T C 10: 77,393,787 (GRCm39) V409A probably damaging Het
Kcnh8 C T 17: 53,284,780 (GRCm39) P917S probably benign Het
Kif23 T C 9: 61,844,477 (GRCm39) T114A probably damaging Het
Krt35 A G 11: 99,987,011 (GRCm39) M1T probably null Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lonp2 T C 8: 87,442,933 (GRCm39) I798T probably benign Het
Lrp2 T A 2: 69,274,138 (GRCm39) T3971S probably benign Het
LTO1 G T 7: 144,468,930 (GRCm39) probably benign Het
Mcc C A 18: 44,582,403 (GRCm39) V758F possibly damaging Het
Naip2 C T 13: 100,280,914 (GRCm39) V1433I probably benign Het
Ndfip1 T C 18: 38,585,384 (GRCm39) F133L probably damaging Het
Nlrc4 T A 17: 74,752,985 (GRCm39) E466V probably damaging Het
Nwd1 A G 8: 73,388,908 (GRCm39) D112G probably damaging Het
Opn4 G T 14: 34,315,819 (GRCm39) R405S probably benign Het
Or10q12 T C 19: 13,746,185 (GRCm39) S160P probably damaging Het
Or2i1 C T 17: 37,508,299 (GRCm39) V112M possibly damaging Het
Or4c110 T C 2: 88,832,060 (GRCm39) T191A Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pde11a T A 2: 75,848,238 (GRCm39) D863V probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekhf1 A T 7: 37,921,322 (GRCm39) L82Q probably damaging Het
Pou4f3 G T 18: 42,528,593 (GRCm39) D179Y possibly damaging Het
Ppp1r12a G A 10: 108,096,749 (GRCm39) R713H probably damaging Het
Psg17 C A 7: 18,555,310 (GRCm39) G11W probably benign Het
Ptprh A T 7: 4,567,273 (GRCm39) V533D probably damaging Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rfx6 A C 10: 51,557,968 (GRCm39) H147P probably damaging Het
Rprd2 T C 3: 95,684,105 (GRCm39) Y310C probably damaging Het
Samd11 A G 4: 156,333,727 (GRCm39) F201S probably benign Het
Sox7 A G 14: 64,186,037 (GRCm39) T358A probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tie1 G A 4: 118,339,935 (GRCm39) T364M possibly damaging Het
Ttn C A 2: 76,597,266 (GRCm39) L19882F probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubr4 T C 4: 139,196,164 (GRCm39) W1267R unknown Het
Usp42 G A 5: 143,703,696 (GRCm39) P456S probably damaging Het
Vmn1r235 T C 17: 21,482,554 (GRCm39) V293A possibly damaging Het
Vmn2r90 T A 17: 17,924,343 (GRCm39) H47Q probably damaging Het
Vps13d T A 4: 144,802,348 (GRCm39) T3503S Het
Vwa5b2 T A 16: 20,415,026 (GRCm39) N349K probably benign Het
Zeb1 A T 18: 5,767,958 (GRCm39) Y823F probably damaging Het
Zfp273 T A 13: 67,974,053 (GRCm39) C394S probably damaging Het
Zfp286 G T 11: 62,671,817 (GRCm39) A147D unknown Het
Zfp831 A G 2: 174,547,049 (GRCm39) T1411A possibly damaging 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
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
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'- GGGCCACATCTCAGAGTAAAGG -3'
(R):5'- TCAACACCACTTGACTCAGG -3'

Sequencing Primer
(F):5'- AGCATTCTGAGAGAACCGTTCCTG -3'
(R):5'- CCACTTGACTCAGGAAAGGGAC -3'
Posted On 2021-04-30