Incidental Mutation 'R6419:Ptprn'
ID 517978
Institutional Source Beutler Lab
Gene Symbol Ptprn
Ensembl Gene ENSMUSG00000026204
Gene Name protein tyrosine phosphatase receptor type N
Synonyms IA-2
MMRRC Submission 044561-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.606) question?
Stock # R6419 (G1)
Quality Score 197.009
Status Validated
Chromosome 1
Chromosomal Location 75223671-75241146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75240681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 31 (R31C)
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: R31C

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: R31C

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 noncoding transcript
Transcript: ENSMUST00000188401
Predicted Effect probably benign
Transcript: ENSMUST00000189769
AA Change: P5L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000140168
Gene: ENSMUSG00000026204
AA Change: P5L

DomainStartEndE-ValueType
RESP18 56 157 1.5e-51 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 96% (67/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T C 4: 42,812,473 (GRCm39) probably benign Het
Abcc2 T A 19: 43,825,947 (GRCm39) probably null Het
Adamts12 C T 15: 11,215,759 (GRCm39) T260M possibly damaging Het
Adamts20 C T 15: 94,231,556 (GRCm39) V878I possibly damaging Het
Adgrl4 A G 3: 151,144,953 (GRCm39) E34G probably damaging Het
Asah1 A T 8: 41,796,803 (GRCm39) I293N probably damaging Het
Atosa G A 9: 74,916,619 (GRCm39) S413N probably benign Het
B3galt2 A T 1: 143,522,839 (GRCm39) E325V possibly damaging Het
Baz1b T A 5: 135,271,348 (GRCm39) H1310Q probably benign Het
Ccdc125 T A 13: 100,826,834 (GRCm39) N204K probably damaging Het
Cd36 C T 5: 18,002,150 (GRCm39) D284N probably benign Het
Cdh12 T C 15: 21,520,483 (GRCm39) L316S probably damaging Het
Cenpv T C 11: 62,416,008 (GRCm39) K247R probably benign Het
Cldn18 T C 9: 99,574,801 (GRCm39) H257R possibly damaging Het
Cnot8 T A 11: 58,004,891 (GRCm39) Y197N probably damaging Het
Cog3 A T 14: 75,962,178 (GRCm39) C554* probably null Het
Col4a4 A G 1: 82,444,207 (GRCm39) probably null Het
Cops5 G A 1: 10,103,532 (GRCm39) T158I probably damaging Het
Dhh A G 15: 98,792,282 (GRCm39) F242S probably damaging Het
Dot1l T C 10: 80,627,315 (GRCm39) V1512A possibly damaging Het
Dstn T G 2: 143,781,907 (GRCm39) I116S possibly damaging Het
Egfem1 G A 3: 29,711,398 (GRCm39) D326N probably damaging Het
Enpp3 A T 10: 24,684,089 (GRCm39) Y52N probably damaging Het
Gabra2 A G 5: 71,119,426 (GRCm39) S359P probably benign Het
Gbp7 G A 3: 142,252,214 (GRCm39) G599E probably benign Het
Gcat T G 15: 78,920,264 (GRCm39) I198S probably damaging Het
Gm8439 A G 4: 120,466,755 (GRCm39) K82R unknown Het
Grin2b A G 6: 135,717,965 (GRCm39) F709S probably damaging Het
Grm3 T C 5: 9,620,201 (GRCm39) N348D probably damaging Het
Hdgfl1 G A 13: 26,954,075 (GRCm39) probably benign Het
Hmgxb3 G T 18: 61,285,296 (GRCm39) D564E possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Impg1 A G 9: 80,287,300 (GRCm39) V305A probably benign Het
Ints7 T A 1: 191,334,414 (GRCm39) S313T possibly damaging Het
Knl1 T A 2: 118,899,484 (GRCm39) I395K probably benign Het
Lactb2 A T 1: 13,708,459 (GRCm39) Y196* probably null Het
Lad1 T C 1: 135,759,630 (GRCm39) S509P possibly damaging Het
Ltf T C 9: 110,860,090 (GRCm39) F504L possibly damaging Het
Med4 A T 14: 73,751,363 (GRCm39) D104V probably damaging Het
Mrpl58 A T 11: 115,301,073 (GRCm39) N128Y probably damaging Het
Ndufs2 T C 1: 171,068,668 (GRCm39) T54A probably benign Het
Notch2 G T 3: 98,007,705 (GRCm39) probably null Het
Ntng1 A T 3: 109,690,169 (GRCm39) N424K possibly damaging Het
Ntrk2 G A 13: 59,009,113 (GRCm39) W301* probably null Het
Or5b116 T A 19: 13,423,131 (GRCm39) S252T probably benign Het
Otud6b A G 4: 14,822,766 (GRCm39) S113P possibly damaging Het
Pcdhb20 A G 18: 37,638,608 (GRCm39) N378S probably damaging Het
Polr3b T C 10: 84,473,975 (GRCm39) S185P possibly damaging Het
Rgsl1 C T 1: 153,698,117 (GRCm39) V478M probably damaging Het
Sema6b A T 17: 56,439,784 (GRCm39) L19* probably null Het
Slfn8 A G 11: 82,894,881 (GRCm39) probably null Het
Spen A T 4: 141,203,621 (GRCm39) S1669T unknown Het
Syne2 T C 12: 76,143,740 (GRCm39) F1522L probably damaging Het
Tarbp1 C T 8: 127,185,783 (GRCm39) A470T possibly damaging Het
Tent4a A C 13: 69,658,785 (GRCm39) M350R possibly damaging Het
Tiam1 C A 16: 89,694,912 (GRCm39) E182* probably null Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trip12 C T 1: 84,771,591 (GRCm39) A186T probably damaging Het
Ufc1 C T 1: 171,116,529 (GRCm39) A147T probably damaging Het
Vmn1r199 A G 13: 22,567,777 (GRCm39) K314R possibly damaging Het
Vmn2r13 A T 5: 109,323,085 (GRCm39) I68K possibly damaging Het
Vmn2r77 A T 7: 86,460,767 (GRCm39) I698F probably damaging Het
Vmn2r86 T C 10: 130,282,795 (GRCm39) K607R probably damaging Het
Vwa3b T C 1: 37,196,457 (GRCm39) V28A probably benign Het
Wdr19 A G 5: 65,373,236 (GRCm39) N166S possibly damaging Het
Wfdc17 G A 11: 83,595,634 (GRCm39) G33R probably damaging Het
Zfp330 T G 8: 83,491,545 (GRCm39) K209N probably benign Het
Zfp493 A G 13: 67,934,526 (GRCm39) T160A probably benign Het
Zfp974 A T 7: 27,610,940 (GRCm39) C262S possibly 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
R6793:Ptprn UTSW 1 75,234,786 (GRCm39) missense probably benign 0.38
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'- ATCTCTCAACTCGCGTGCAC -3'
(R):5'- CTCAAGAGGGGCAACTAGAC -3'

Sequencing Primer
(F):5'- TGGAGCCCACTTTTCCAGG -3'
(R):5'- AACTAGACCCCGCCTTGGAG -3'
Posted On 2018-05-24