Incidental Mutation 'IGL02619:Ptprh'
ID300773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Nameprotein tyrosine phosphatase, receptor type, H
SynonymsSAP-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02619
Quality Score
Status
Chromosome7
Chromosomal Location4548612-4604041 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4549499 bp
ZygosityHeterozygous
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]
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: 179,792,451 G220E possibly damaging Het
Arhgef10l A G 4: 140,594,193 I101T probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Camkk2 A T 5: 122,764,235 C4S probably damaging Het
Ccdc174 T A 6: 91,899,557 D458E possibly damaging Het
Cercam A G 2: 29,880,674 N419S probably benign Het
Clca3a2 T C 3: 144,806,322 N551S probably damaging Het
Cldn18 T A 9: 99,698,935 I87F probably damaging Het
Ctso T A 3: 81,941,529 probably benign Het
Ddhd2 C A 8: 25,746,954 probably null Het
Dscaml1 T A 9: 45,447,796 Y118N probably damaging Het
Ece1 C T 4: 137,938,733 A296V probably benign Het
Fbxo40 T A 16: 36,970,404 I115F possibly damaging Het
Fkbp9 T A 6: 56,850,624 N143K probably damaging Het
Foxk2 G T 11: 121,299,576 probably benign Het
Ggnbp1 A G 17: 27,029,555 K33E probably benign Het
Hace1 A T 10: 45,671,434 probably benign Het
Hk3 A T 13: 55,014,294 C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 A542V probably damaging Het
Lrch2 A C X: 147,480,541 V363G probably damaging Het
Lrch2 C T X: 147,519,135 C264Y probably damaging Het
Lrrc56 C A 7: 141,207,633 probably benign Het
Lrtm2 C T 6: 119,317,238 V311M probably damaging Het
N4bp1 G T 8: 86,860,901 Q470K probably benign Het
Naa15 A C 3: 51,460,131 D575A probably benign Het
Ncaph A T 2: 127,127,536 V69D probably damaging Het
Nlrp5 G A 7: 23,424,064 probably null Het
Nmbr A G 10: 14,760,587 D100G probably damaging Het
Ofcc1 C T 13: 40,097,077 V588M possibly damaging Het
Olfr142 G T 2: 90,252,505 T161N probably damaging Het
Olfr481 C A 7: 108,081,742 probably benign Het
Osmr C A 15: 6,841,994 R314M probably damaging Het
Pcdhb16 C T 18: 37,478,217 Q77* probably null Het
Pglyrp4 G A 3: 90,735,648 probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rp1 T A 1: 4,348,450 Q813L possibly damaging Het
Sgtb A G 13: 104,118,414 N64S probably benign Het
Slc5a12 T C 2: 110,640,856 V481A probably benign Het
Slitrk1 A G 14: 108,911,917 V454A probably benign Het
Sntg2 C A 12: 30,267,026 probably null Het
Synj1 C T 16: 90,974,045 V499I probably damaging Het
Tmco1 T C 1: 167,326,028 probably benign Het
Tmem38b T C 4: 53,848,871 I92T probably damaging Het
Tmem9 T C 1: 136,027,407 V93A probably benign Het
Ttn T A 2: 76,795,238 R15080S possibly damaging Het
Ube2e3 T C 2: 78,918,721 I138T probably damaging Het
Urgcp A G 11: 5,715,752 I862T possibly damaging Het
Vmn1r68 A T 7: 10,527,676 I165N probably benign Het
Washc4 G A 10: 83,558,853 V316I possibly damaging Het
Zfp111 A T 7: 24,199,688 L166Q possibly damaging Het
Zfyve1 A T 12: 83,550,944 probably benign Het
Zscan18 A G 7: 12,774,866 probably benign Het
Other mutations in Ptprh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Ptprh APN 7 4580916 missense probably benign 0.23
IGL02420:Ptprh APN 7 4580930 missense probably damaging 1.00
IGL02729:Ptprh APN 7 4580874 missense probably damaging 0.99
R0018:Ptprh UTSW 7 4601846 critical splice donor site probably null
R0049:Ptprh UTSW 7 4573362 missense possibly damaging 0.80
R0449:Ptprh UTSW 7 4598006 missense probably damaging 1.00
R0477:Ptprh UTSW 7 4597998 missense possibly damaging 0.87
R0626:Ptprh UTSW 7 4564272 missense probably benign 0.00
R0741:Ptprh UTSW 7 4554173 critical splice donor site probably null
R1068:Ptprh UTSW 7 4549463 missense possibly damaging 0.89
R1226:Ptprh UTSW 7 4603092 nonsense probably null
R1487:Ptprh UTSW 7 4552738 missense probably damaging 1.00
R1495:Ptprh UTSW 7 4580889 missense probably benign 0.02
R1537:Ptprh UTSW 7 4549699 missense probably damaging 1.00
R1601:Ptprh UTSW 7 4552638 missense probably damaging 1.00
R1731:Ptprh UTSW 7 4601913 missense probably benign 0.00
R1920:Ptprh UTSW 7 4549395 missense probably benign 0.25
R2082:Ptprh UTSW 7 4550775 missense probably damaging 1.00
R2180:Ptprh UTSW 7 4601868 missense probably benign 0.26
R2214:Ptprh UTSW 7 4552922 missense possibly damaging 0.78
R2245:Ptprh UTSW 7 4573346 missense probably benign 0.09
R2271:Ptprh UTSW 7 4603133 start gained probably benign
R3693:Ptprh UTSW 7 4554235 missense probably damaging 0.99
R3713:Ptprh UTSW 7 4571970 missense probably damaging 1.00
R4081:Ptprh UTSW 7 4580988 missense probably damaging 0.99
R4205:Ptprh UTSW 7 4597992 missense probably damaging 1.00
R4689:Ptprh UTSW 7 4597997 missense possibly damaging 0.74
R4782:Ptprh UTSW 7 4569577 missense probably benign 0.08
R4838:Ptprh UTSW 7 4573430 missense possibly damaging 0.78
R4974:Ptprh UTSW 7 4551007 splice site probably null
R5218:Ptprh UTSW 7 4597920 missense probably benign 0.05
R5430:Ptprh UTSW 7 4551047 missense probably damaging 1.00
R5533:Ptprh UTSW 7 4549505 missense probably damaging 1.00
R5544:Ptprh UTSW 7 4580910 nonsense probably null
R5547:Ptprh UTSW 7 4554222 nonsense probably null
R5869:Ptprh UTSW 7 4601940 missense probably benign 0.00
R5928:Ptprh UTSW 7 4573508 missense probably damaging 1.00
R6063:Ptprh UTSW 7 4573362 missense possibly damaging 0.80
R6112:Ptprh UTSW 7 4597923 missense probably benign 0.01
R6493:Ptprh UTSW 7 4580990 missense possibly damaging 0.65
R6733:Ptprh UTSW 7 4603044 splice site probably null
R6836:Ptprh UTSW 7 4551135 missense probably damaging 1.00
R6859:Ptprh UTSW 7 4549371 nonsense probably null
R6868:Ptprh UTSW 7 4601865 missense probably benign
R7015:Ptprh UTSW 7 4552627 critical splice donor site probably null
R7092:Ptprh UTSW 7 4580861 critical splice donor site probably null
R7147:Ptprh UTSW 7 4550782 missense probably damaging 1.00
R7177:Ptprh UTSW 7 4569481 missense possibly damaging 0.77
R7358:Ptprh UTSW 7 4551007 splice site probably null
R7436:Ptprh UTSW 7 4552743 missense probably damaging 1.00
R7512:Ptprh UTSW 7 4571781 missense possibly damaging 0.60
RF022:Ptprh UTSW 7 4549368 missense probably benign
Posted On2015-04-16