Incidental Mutation 'R6793:Ptprn'
ID 532676
Institutional Source Beutler Lab
Gene Symbol Ptprn
Ensembl Gene ENSMUSG00000026204
Gene Name protein tyrosine phosphatase receptor type N
Synonyms IA-2
MMRRC Submission 044906-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.606) question?
Stock # R6793 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 75223671-75241146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75234786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 267 (T267I)
Ref Sequence ENSEMBL: ENSMUSP00000027404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027404] [ENSMUST00000185849] [ENSMUST00000186178] [ENSMUST00000189769]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027404
AA Change: T267I

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: T267I

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
RESP18 63 164 1.5e-51 SMART
low complexity region 174 201 N/A INTRINSIC
low complexity region 217 235 N/A INTRINSIC
low complexity region 360 368 N/A INTRINSIC
Pfam:Receptor_IA-2 471 559 7e-33 PFAM
transmembrane domain 579 601 N/A INTRINSIC
low complexity region 650 679 N/A INTRINSIC
PTPc 710 973 1.2e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185849
SMART Domains Protein: ENSMUSP00000140062
Gene: ENSMUSG00000026204

DomainStartEndE-ValueType
RESP18 1 62 5e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186178
SMART Domains Protein: ENSMUSP00000139925
Gene: ENSMUSG00000026204

DomainStartEndE-ValueType
RESP18 27 128 1.5e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189769
SMART Domains Protein: ENSMUSP00000140168
Gene: ENSMUSG00000026204

DomainStartEndE-ValueType
RESP18 56 157 1.5e-51 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,052 (GRCm39) N19K possibly damaging Het
A2ml1 G A 6: 128,523,292 (GRCm39) Q1215* probably null Het
Abraxas2 T C 7: 132,476,563 (GRCm39) I98T probably damaging Het
Ankrd17 G A 5: 90,413,371 (GRCm39) T1181I probably damaging Het
Bsn T A 9: 107,991,814 (GRCm39) K1313* probably null Het
Chst4 A T 8: 110,756,699 (GRCm39) V388D probably damaging Het
Ckap5 T G 2: 91,399,054 (GRCm39) W613G probably damaging Het
Clock GACTCACT GACT 5: 76,384,967 (GRCm39) probably null Het
Enpp1 T C 10: 24,531,723 (GRCm39) D520G probably damaging Het
Epha3 T C 16: 63,593,818 (GRCm39) N90S probably benign Het
Esp36 A T 17: 38,728,005 (GRCm39) M92K unknown Het
Fam135a A G 1: 24,107,006 (GRCm39) V44A possibly damaging Het
Fndc8 T C 11: 82,788,412 (GRCm39) S81P probably damaging Het
Fsip2 T G 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gabrr1 T G 4: 33,162,712 (GRCm39) V426G possibly damaging Het
Igkv6-15 T A 6: 70,383,976 (GRCm39) M1L probably benign Het
Lrrc36 A G 8: 106,185,065 (GRCm39) E614G probably damaging Het
Man1a2 A T 3: 100,539,913 (GRCm39) I176K possibly damaging Het
Mapk4 T A 18: 74,063,539 (GRCm39) N561I probably damaging Het
Med15 A T 16: 17,470,567 (GRCm39) probably benign Het
Mfsd2a A G 4: 122,844,498 (GRCm39) V258A probably benign Het
Micu3 G A 8: 40,833,736 (GRCm39) V457I probably damaging Het
Mov10l1 T A 15: 88,880,387 (GRCm39) V291E possibly damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncbp1 T C 4: 46,157,827 (GRCm39) I355T probably damaging Het
Or51s1 A G 7: 102,558,935 (GRCm39) V37A probably benign Het
Or52ad1 T C 7: 102,995,473 (GRCm39) T221A probably benign Het
Otub2 A G 12: 103,355,278 (GRCm39) probably benign Het
Pcdh15 T C 10: 74,466,971 (GRCm39) S1666P probably damaging Het
Pcdha12 T A 18: 37,155,234 (GRCm39) V651E probably damaging Het
Pomt1 T C 2: 32,132,961 (GRCm39) F186L probably damaging Het
Prl3d3 G A 13: 27,345,044 (GRCm39) A140T probably benign Het
Qrfprl C T 6: 65,358,405 (GRCm39) A43V probably benign Het
Rhbdd2 T A 5: 135,665,008 (GRCm39) I113N probably damaging Het
Saraf T A 8: 34,635,767 (GRCm39) probably null Het
Slc41a2 T C 10: 83,137,022 (GRCm39) probably null Het
Slc47a1 A G 11: 61,250,229 (GRCm39) V352A probably benign Het
Tmem237 T C 1: 59,153,375 (GRCm39) T49A probably benign Het
Tmem273 A C 14: 32,528,778 (GRCm39) I48L probably benign Het
Tmprss11e C T 5: 86,863,414 (GRCm39) C217Y probably damaging Het
Ubfd1 T C 7: 121,667,103 (GRCm39) V140A probably benign Het
Utrn A G 10: 12,516,669 (GRCm39) probably null Het
Utrn T A 10: 12,574,844 (GRCm39) I1028F possibly damaging Het
Virma C T 4: 11,539,968 (GRCm39) T1479M probably damaging Het
Vwa7 G T 17: 35,243,867 (GRCm39) R767L probably benign Het
Wdfy3 A T 5: 102,065,297 (GRCm39) Y1290* probably null Het
Zfp970 G A 2: 177,167,338 (GRCm39) C304Y probably damaging Het
Other mutations in Ptprn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Ptprn APN 1 75,228,914 (GRCm39) missense probably damaging 0.99
IGL01900:Ptprn APN 1 75,228,892 (GRCm39) splice site probably benign
IGL02189:Ptprn APN 1 75,235,139 (GRCm39) missense possibly damaging 0.73
IGL02282:Ptprn APN 1 75,229,800 (GRCm39) missense probably damaging 1.00
IGL02452:Ptprn APN 1 75,234,813 (GRCm39) missense probably benign 0.34
IGL02865:Ptprn APN 1 75,239,007 (GRCm39) missense probably damaging 1.00
IGL02926:Ptprn APN 1 75,224,517 (GRCm39) missense possibly damaging 0.95
IGL03062:Ptprn APN 1 75,224,517 (GRCm39) missense possibly damaging 0.95
ascorbic UTSW 1 75,224,537 (GRCm39) missense probably benign 0.16
Delusion UTSW 1 75,224,810 (GRCm39) missense probably damaging 1.00
H8562:Ptprn UTSW 1 75,231,264 (GRCm39) missense possibly damaging 0.66
R0051:Ptprn UTSW 1 75,228,898 (GRCm39) critical splice donor site probably null
R0107:Ptprn UTSW 1 75,232,356 (GRCm39) missense probably damaging 0.99
R0801:Ptprn UTSW 1 75,228,909 (GRCm39) missense probably damaging 1.00
R0865:Ptprn UTSW 1 75,224,782 (GRCm39) splice site probably null
R1120:Ptprn UTSW 1 75,234,825 (GRCm39) missense probably benign 0.00
R1534:Ptprn UTSW 1 75,234,587 (GRCm39) critical splice donor site probably null
R1740:Ptprn UTSW 1 75,238,694 (GRCm39) missense probably damaging 1.00
R1857:Ptprn UTSW 1 75,224,549 (GRCm39) missense possibly damaging 0.64
R1927:Ptprn UTSW 1 75,230,766 (GRCm39) missense probably benign 0.00
R1974:Ptprn UTSW 1 75,231,464 (GRCm39) splice site probably null
R2071:Ptprn UTSW 1 75,231,788 (GRCm39) missense probably damaging 1.00
R2223:Ptprn UTSW 1 75,234,581 (GRCm39) unclassified probably benign
R3714:Ptprn UTSW 1 75,229,411 (GRCm39) splice site probably null
R4617:Ptprn UTSW 1 75,228,931 (GRCm39) missense possibly damaging 0.74
R4832:Ptprn UTSW 1 75,234,909 (GRCm39) missense probably benign 0.37
R5503:Ptprn UTSW 1 75,228,519 (GRCm39) missense probably damaging 1.00
R5926:Ptprn UTSW 1 75,231,242 (GRCm39) missense probably damaging 1.00
R6217:Ptprn UTSW 1 75,224,810 (GRCm39) missense probably damaging 1.00
R6419:Ptprn UTSW 1 75,240,681 (GRCm39) missense probably benign 0.10
R6964:Ptprn UTSW 1 75,237,293 (GRCm39) missense possibly damaging 0.83
R7071:Ptprn UTSW 1 75,237,263 (GRCm39) missense possibly damaging 0.82
R7680:Ptprn UTSW 1 75,224,537 (GRCm39) missense probably benign 0.16
R7777:Ptprn UTSW 1 75,228,946 (GRCm39) missense possibly damaging 0.54
R7883:Ptprn UTSW 1 75,239,007 (GRCm39) missense probably damaging 1.00
R8233:Ptprn UTSW 1 75,229,796 (GRCm39) missense probably damaging 1.00
R8243:Ptprn UTSW 1 75,229,179 (GRCm39) missense probably damaging 0.99
R8941:Ptprn UTSW 1 75,228,407 (GRCm39) missense probably damaging 1.00
R9076:Ptprn UTSW 1 75,229,018 (GRCm39) missense probably damaging 1.00
R9382:Ptprn UTSW 1 75,229,135 (GRCm39) missense probably benign 0.05
X0017:Ptprn UTSW 1 75,229,909 (GRCm39) missense probably benign 0.15
Z1088:Ptprn UTSW 1 75,237,264 (GRCm39) missense possibly damaging 0.70
Z1176:Ptprn UTSW 1 75,228,462 (GRCm39) missense probably damaging 0.99
Z1177:Ptprn UTSW 1 75,234,681 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACTGCTACCTGGTTGTGCTG -3'
(R):5'- CTGCACTGCTACAGCCTTAC -3'

Sequencing Primer
(F):5'- CTTGGGGAGGGGACTTCTC -3'
(R):5'- TCTTCCACCAGGTGAGACC -3'
Posted On 2018-08-29