Incidental Mutation 'IGL02619:Ptprh'
ID 300773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02619
Quality Score
Status
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4552498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 922 (F922S)
Ref Sequence ENSEMBL: ENSMUSP00000145543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000065957] [ENSMUST00000166650] [ENSMUST00000206023] [ENSMUST00000206933] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably damaging
Transcript: ENSMUST00000049113
AA Change: F922S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: F922S

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FN3 67 145 2.42e-9 SMART
FN3 156 234 9.69e-9 SMART
FN3 245 323 1.57e-8 SMART
FN3 334 412 6.29e-8 SMART
FN3 427 505 7.75e-8 SMART
FN3 516 593 1.21e0 SMART
transmembrane domain 605 627 N/A INTRINSIC
PTPc 670 932 1.09e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065957
SMART Domains Protein: ENSMUSP00000070322
Gene: ENSMUSG00000004961

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
C2 124 226 2.8e-19 SMART
C2 255 369 4.76e-22 SMART
low complexity region 375 386 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166650
AA Change: F922S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: F922S

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FN3 67 145 2.42e-9 SMART
FN3 156 234 9.69e-9 SMART
FN3 245 323 1.57e-8 SMART
FN3 334 412 6.29e-8 SMART
FN3 427 505 7.75e-8 SMART
FN3 516 593 1.21e0 SMART
transmembrane domain 605 627 N/A INTRINSIC
PTPc 670 932 1.09e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205417
Predicted Effect probably benign
Transcript: ENSMUST00000206023
Predicted Effect probably benign
Transcript: ENSMUST00000206933
Predicted Effect probably damaging
Transcript: ENSMUST00000206999
AA Change: F922S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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 intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a null alllele exhibit normal intestinal epithelial cell morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C T 1: 179,620,016 (GRCm39) G220E possibly damaging Het
Arhgef10l A G 4: 140,321,504 (GRCm39) I101T probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Camkk2 A T 5: 122,902,298 (GRCm39) C4S probably damaging Het
Ccdc174 T A 6: 91,876,538 (GRCm39) D458E possibly damaging Het
Cercam A G 2: 29,770,686 (GRCm39) N419S probably benign Het
Clca3a2 T C 3: 144,512,083 (GRCm39) N551S probably damaging Het
Cldn18 T A 9: 99,580,988 (GRCm39) I87F probably damaging Het
Ctso T A 3: 81,848,836 (GRCm39) probably benign Het
Ddhd2 C A 8: 26,236,981 (GRCm39) probably null Het
Dscaml1 T A 9: 45,359,094 (GRCm39) Y118N probably damaging Het
Ece1 C T 4: 137,666,044 (GRCm39) A296V probably benign Het
Fbxo40 T A 16: 36,790,766 (GRCm39) I115F possibly damaging Het
Fkbp9 T A 6: 56,827,609 (GRCm39) N143K probably damaging Het
Foxk2 G T 11: 121,190,402 (GRCm39) probably benign Het
Ggnbp1 A G 17: 27,248,529 (GRCm39) K33E probably benign Het
Hace1 A T 10: 45,547,530 (GRCm39) probably benign Het
Hk3 A T 13: 55,162,107 (GRCm39) C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 (GRCm39) A542V probably damaging Het
Lrch2 A C X: 146,263,537 (GRCm39) V363G probably damaging Het
Lrch2 C T X: 146,302,131 (GRCm39) C264Y probably damaging Het
Lrrc56 C A 7: 140,787,546 (GRCm39) probably benign Het
Lrtm2 C T 6: 119,294,199 (GRCm39) V311M probably damaging Het
N4bp1 G T 8: 87,587,529 (GRCm39) Q470K probably benign Het
Naa15 A C 3: 51,367,552 (GRCm39) D575A probably benign Het
Ncaph A T 2: 126,969,456 (GRCm39) V69D probably damaging Het
Nlrp5 G A 7: 23,123,489 (GRCm39) probably null Het
Nmbr A G 10: 14,636,331 (GRCm39) D100G probably damaging Het
Ofcc1 C T 13: 40,250,553 (GRCm39) V588M possibly damaging Het
Or4b13 G T 2: 90,082,849 (GRCm39) T161N probably damaging Het
Or5p4 C A 7: 107,680,949 (GRCm39) probably benign Het
Osmr C A 15: 6,871,475 (GRCm39) R314M probably damaging Het
Pcdhb16 C T 18: 37,611,270 (GRCm39) Q77* probably null Het
Pglyrp4 G A 3: 90,642,955 (GRCm39) probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rp1 T A 1: 4,418,673 (GRCm39) Q813L possibly damaging Het
Sgtb A G 13: 104,254,922 (GRCm39) N64S probably benign Het
Slc5a12 T C 2: 110,471,201 (GRCm39) V481A probably benign Het
Slitrk1 A G 14: 109,149,349 (GRCm39) V454A probably benign Het
Sntg2 C A 12: 30,317,025 (GRCm39) probably null Het
Synj1 C T 16: 90,770,933 (GRCm39) V499I probably damaging Het
Tmco1 T C 1: 167,153,597 (GRCm39) probably benign Het
Tmem38b T C 4: 53,848,871 (GRCm39) I92T probably damaging Het
Tmem9 T C 1: 135,955,145 (GRCm39) V93A probably benign Het
Ttn T A 2: 76,625,582 (GRCm39) R15080S possibly damaging Het
Ube2e3 T C 2: 78,749,065 (GRCm39) I138T probably damaging Het
Urgcp A G 11: 5,665,752 (GRCm39) I862T possibly damaging Het
Vmn1r68 A T 7: 10,261,603 (GRCm39) I165N probably benign Het
Washc4 G A 10: 83,394,717 (GRCm39) V316I possibly damaging Het
Zfp111 A T 7: 23,899,113 (GRCm39) L166Q possibly damaging Het
Zfyve1 A T 12: 83,597,718 (GRCm39) probably benign Het
Zscan18 A G 7: 12,508,793 (GRCm39) probably benign Het
Other mutations in Ptprh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Ptprh APN 7 4,583,915 (GRCm39) missense probably benign 0.23
IGL02420:Ptprh APN 7 4,583,929 (GRCm39) missense probably damaging 1.00
IGL02729:Ptprh APN 7 4,583,873 (GRCm39) missense probably damaging 0.99
BB008:Ptprh UTSW 7 4,574,987 (GRCm39) missense probably benign 0.03
BB018:Ptprh UTSW 7 4,574,987 (GRCm39) missense probably benign 0.03
R0018:Ptprh UTSW 7 4,604,845 (GRCm39) critical splice donor site probably null
R0049:Ptprh UTSW 7 4,576,361 (GRCm39) missense possibly damaging 0.80
R0449:Ptprh UTSW 7 4,601,005 (GRCm39) missense probably damaging 1.00
R0477:Ptprh UTSW 7 4,600,997 (GRCm39) missense possibly damaging 0.87
R0626:Ptprh UTSW 7 4,567,271 (GRCm39) missense probably benign 0.00
R0741:Ptprh UTSW 7 4,557,172 (GRCm39) critical splice donor site probably null
R1068:Ptprh UTSW 7 4,552,462 (GRCm39) missense possibly damaging 0.89
R1226:Ptprh UTSW 7 4,606,091 (GRCm39) nonsense probably null
R1487:Ptprh UTSW 7 4,555,737 (GRCm39) missense probably damaging 1.00
R1495:Ptprh UTSW 7 4,583,888 (GRCm39) missense probably benign 0.02
R1537:Ptprh UTSW 7 4,552,698 (GRCm39) missense probably damaging 1.00
R1601:Ptprh UTSW 7 4,555,637 (GRCm39) missense probably damaging 1.00
R1731:Ptprh UTSW 7 4,604,912 (GRCm39) missense probably benign 0.00
R1920:Ptprh UTSW 7 4,552,394 (GRCm39) missense probably benign 0.25
R2082:Ptprh UTSW 7 4,553,774 (GRCm39) missense probably damaging 1.00
R2180:Ptprh UTSW 7 4,604,867 (GRCm39) missense probably benign 0.26
R2214:Ptprh UTSW 7 4,555,921 (GRCm39) missense possibly damaging 0.78
R2245:Ptprh UTSW 7 4,576,345 (GRCm39) missense probably benign 0.09
R2271:Ptprh UTSW 7 4,606,132 (GRCm39) start gained probably benign
R3693:Ptprh UTSW 7 4,557,234 (GRCm39) missense probably damaging 0.99
R3713:Ptprh UTSW 7 4,574,969 (GRCm39) missense probably damaging 1.00
R4081:Ptprh UTSW 7 4,583,987 (GRCm39) missense probably damaging 0.99
R4205:Ptprh UTSW 7 4,600,991 (GRCm39) missense probably damaging 1.00
R4689:Ptprh UTSW 7 4,600,996 (GRCm39) missense possibly damaging 0.74
R4782:Ptprh UTSW 7 4,572,576 (GRCm39) missense probably benign 0.08
R4838:Ptprh UTSW 7 4,576,429 (GRCm39) missense possibly damaging 0.78
R4974:Ptprh UTSW 7 4,554,006 (GRCm39) splice site probably null
R5218:Ptprh UTSW 7 4,600,919 (GRCm39) missense probably benign 0.05
R5430:Ptprh UTSW 7 4,554,046 (GRCm39) missense probably damaging 1.00
R5533:Ptprh UTSW 7 4,552,504 (GRCm39) missense probably damaging 1.00
R5544:Ptprh UTSW 7 4,583,909 (GRCm39) nonsense probably null
R5547:Ptprh UTSW 7 4,557,221 (GRCm39) nonsense probably null
R5869:Ptprh UTSW 7 4,604,939 (GRCm39) missense probably benign 0.00
R5928:Ptprh UTSW 7 4,576,507 (GRCm39) missense probably damaging 1.00
R6063:Ptprh UTSW 7 4,576,361 (GRCm39) missense possibly damaging 0.80
R6112:Ptprh UTSW 7 4,600,922 (GRCm39) missense probably benign 0.01
R6493:Ptprh UTSW 7 4,583,989 (GRCm39) missense possibly damaging 0.65
R6733:Ptprh UTSW 7 4,606,043 (GRCm39) splice site probably null
R6836:Ptprh UTSW 7 4,554,134 (GRCm39) missense probably damaging 1.00
R6859:Ptprh UTSW 7 4,552,370 (GRCm39) nonsense probably null
R6868:Ptprh UTSW 7 4,604,864 (GRCm39) missense probably benign
R7015:Ptprh UTSW 7 4,555,626 (GRCm39) critical splice donor site probably null
R7092:Ptprh UTSW 7 4,583,860 (GRCm39) critical splice donor site probably null
R7147:Ptprh UTSW 7 4,553,781 (GRCm39) missense probably damaging 1.00
R7177:Ptprh UTSW 7 4,572,480 (GRCm39) missense possibly damaging 0.77
R7358:Ptprh UTSW 7 4,554,006 (GRCm39) splice site probably null
R7436:Ptprh UTSW 7 4,555,742 (GRCm39) missense probably damaging 1.00
R7512:Ptprh UTSW 7 4,574,780 (GRCm39) missense possibly damaging 0.60
R7863:Ptprh UTSW 7 4,606,097 (GRCm39) start codon destroyed probably benign 0.31
R7931:Ptprh UTSW 7 4,574,987 (GRCm39) missense probably benign 0.03
R7973:Ptprh UTSW 7 4,583,887 (GRCm39) missense possibly damaging 0.55
R8239:Ptprh UTSW 7 4,584,090 (GRCm39) missense probably damaging 1.00
R8331:Ptprh UTSW 7 4,552,480 (GRCm39) missense probably damaging 1.00
R8688:Ptprh UTSW 7 4,554,022 (GRCm39) missense probably benign 0.03
R8700:Ptprh UTSW 7 4,567,190 (GRCm39) missense probably damaging 1.00
R8716:Ptprh UTSW 7 4,567,273 (GRCm39) missense probably damaging 1.00
R8970:Ptprh UTSW 7 4,583,944 (GRCm39) missense possibly damaging 0.84
R9119:Ptprh UTSW 7 4,555,712 (GRCm39) missense probably benign 0.25
R9203:Ptprh UTSW 7 4,574,970 (GRCm39) missense probably damaging 1.00
R9213:Ptprh UTSW 7 4,583,911 (GRCm39) missense probably damaging 0.99
R9250:Ptprh UTSW 7 4,576,289 (GRCm39) missense probably benign 0.03
RF022:Ptprh UTSW 7 4,552,367 (GRCm39) missense probably benign
Z1177:Ptprh UTSW 7 4,601,117 (GRCm39) missense probably damaging 1.00
Z1177:Ptprh UTSW 7 4,600,970 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16