Incidental Mutation 'R9235:Ptprn2'
ID 700443
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R9235 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 116449340-117240469 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 117233271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000064046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]
AlphaFold P80560
Predicted Effect probably null
Transcript: ENSMUST00000070733
SMART Domains Protein: ENSMUSP00000064046
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-2 495 583 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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,623,518 (GRCm39) I76N possibly damaging Het
4930558K02Rik T C 1: 161,780,172 (GRCm39) H114R possibly damaging Het
C2 T C 17: 35,083,845 (GRCm39) D414G probably damaging Het
Catsper4 C T 4: 133,954,606 (GRCm39) D15N probably benign Het
Ccnb2 A G 9: 70,318,163 (GRCm39) V203A probably damaging Het
Cd2 A G 3: 101,195,159 (GRCm39) F13L probably benign Het
Cwf19l1 G A 19: 44,113,275 (GRCm39) A227V probably damaging Het
Dis3l2 G A 1: 86,749,061 (GRCm39) D176N possibly damaging Het
Dmpk T G 7: 18,822,141 (GRCm39) N366K probably damaging Het
Dnajb12 C T 10: 59,728,799 (GRCm39) T229I probably benign Het
Efcab3 A G 11: 104,907,987 (GRCm39) D4479G probably benign Het
Fat3 T A 9: 15,833,674 (GRCm39) E126V probably null Het
Fbxo27 T A 7: 28,397,756 (GRCm39) Y264* probably null Het
Fign A G 2: 63,810,907 (GRCm39) M121T probably damaging Het
Flt3 T C 5: 147,320,202 (GRCm39) Y54C possibly damaging Het
Frmd4a G A 2: 4,599,366 (GRCm39) R460H probably damaging Het
Igkv4-53 A T 6: 69,626,301 (GRCm39) I13N possibly damaging Het
Islr T A 9: 58,064,944 (GRCm39) I188F possibly damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Klra3 A T 6: 130,311,218 (GRCm39) C54* probably null Het
Klrb1b A G 6: 128,795,547 (GRCm39) F140S probably damaging Het
Kmt2c T C 5: 25,504,997 (GRCm39) E3437G probably damaging Het
Mdn1 C A 4: 32,739,122 (GRCm39) L3648I probably benign Het
Mlxipl C A 5: 135,157,541 (GRCm39) T359K possibly damaging Het
Morc3 T C 16: 93,659,321 (GRCm39) W410R probably damaging Het
Mrpl49 G A 19: 6,105,147 (GRCm39) R105* probably null Het
Myom3 T A 4: 135,541,653 (GRCm39) Y1415N probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nrap A T 19: 56,330,760 (GRCm39) Y1100* probably null Het
Or14a257 A T 7: 86,138,306 (GRCm39) V151E probably benign Het
Or5d43 A T 2: 88,104,724 (GRCm39) I223N probably damaging Het
Or5t5 T C 2: 86,616,548 (GRCm39) I158T probably benign Het
Or6c8b G T 10: 128,882,051 (GRCm39) Q294K probably benign Het
Pank1 C A 19: 34,856,197 (GRCm39) A94S probably benign Het
Pikfyve C A 1: 65,299,188 (GRCm39) T1613K probably benign Het
Plbd2 T A 5: 120,626,554 (GRCm39) I352L probably benign Het
Plec T C 15: 76,059,701 (GRCm39) D3412G probably damaging Het
Plekhd1 T A 12: 80,768,791 (GRCm39) Y425N possibly damaging Het
Plscr5 A G 9: 92,086,417 (GRCm39) N129S possibly damaging Het
Prkdc T A 16: 15,651,751 (GRCm39) M3796K probably damaging Het
Psme3 A T 11: 101,211,594 (GRCm39) E213D possibly damaging Het
Sema5a A G 15: 32,619,034 (GRCm39) S521G probably benign Het
Slc34a2 A T 5: 53,226,667 (GRCm39) M597L probably benign Het
Slc6a13 A G 6: 121,301,984 (GRCm39) R189G probably damaging Het
Smyd4 G A 11: 75,295,689 (GRCm39) E782K probably benign Het
Sspo T A 6: 48,466,718 (GRCm39) C4078S probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Ttc21a G T 9: 119,774,559 (GRCm39) R271L probably benign Het
Ubr5 A G 15: 38,045,982 (GRCm39) L114P Het
Ugt1a2 A G 1: 88,128,488 (GRCm39) R44G possibly damaging Het
Ulk4 G A 9: 120,981,217 (GRCm39) T907I probably benign Het
Unc13a G T 8: 72,115,912 (GRCm39) L97I probably benign Het
Uqcc6 A T 10: 82,458,586 (GRCm39) C22S possibly damaging Het
Vmn1r25 A G 6: 57,955,488 (GRCm39) L267P probably damaging Het
Vmn2r101 T A 17: 19,810,238 (GRCm39) N341K probably damaging Het
Wdr3 T A 3: 100,054,023 (GRCm39) Q534L probably benign Het
Zfp28 A T 7: 6,397,605 (GRCm39) H680L probably damaging Het
Zfp986 T A 4: 145,625,759 (GRCm39) F140I 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
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
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'- CCAAGCTGCTGAAGGATGAGTG -3'
(R):5'- GCACAGTGATGAATCTCTTGGG -3'

Sequencing Primer
(F):5'- GAGTGTAATAATTTTCAATTGGCCTC -3'
(R):5'- TGAATCTCTTGGGAACAGCC -3'
Posted On 2022-02-07