Incidental Mutation 'R7436:Ptprh'
ID 580554
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 045512-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7436 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4555742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 739 (E739G)
Ref Sequence ENSEMBL: ENSMUSP00000042396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably damaging
Transcript: ENSMUST00000049113
AA Change: E739G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: E739G

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 damaging
Transcript: ENSMUST00000166650
AA Change: E739G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: E739G

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 damaging
Transcript: ENSMUST00000206999
AA Change: E739G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.2951 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (66/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A G 14: 41,805,178 (GRCm39) probably null Het
2310034C09Rik A G 16: 88,556,242 (GRCm39) Y152C probably benign Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Akap1 A G 11: 88,736,354 (GRCm39) S103P probably damaging Het
Ampd1 T A 3: 102,981,435 (GRCm39) probably null Het
Apoa1 T A 9: 46,141,100 (GRCm39) probably null Het
Asb16 A G 11: 102,163,481 (GRCm39) D157G possibly damaging Het
Bank1 T C 3: 135,761,561 (GRCm39) N748D possibly damaging Het
BC034090 C A 1: 155,102,127 (GRCm39) G46W probably damaging Het
Ccdc202 A T 14: 96,120,027 (GRCm39) K261N probably benign Het
Ccdc73 T A 2: 104,782,214 (GRCm39) V190E probably damaging Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Cyb561a3 A G 19: 10,559,696 (GRCm39) Y7C probably damaging Het
Cyp2t4 A T 7: 26,857,668 (GRCm39) D427V probably damaging Het
Cyp4f14 T C 17: 33,128,131 (GRCm39) T295A probably benign Het
D430041D05Rik T C 2: 104,087,447 (GRCm39) T510A probably benign Het
Dennd6a G T 14: 26,300,865 (GRCm39) E26* probably null Het
Dusp10 T C 1: 183,801,418 (GRCm39) I395T probably damaging Het
Dzip3 T A 16: 48,772,352 (GRCm39) H439L probably damaging Het
Heatr5b T A 17: 79,075,962 (GRCm39) D1452V probably benign Het
Hsd3b2 A G 3: 98,619,112 (GRCm39) F278L probably benign Het
Hspg2 T A 4: 137,242,975 (GRCm39) M702K probably damaging Het
Hydin T C 8: 111,310,546 (GRCm39) F4081L probably damaging Het
Ido1 T G 8: 25,076,932 (GRCm39) T209P probably benign Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ipo8 T C 6: 148,691,303 (GRCm39) Y689C probably benign Het
Macf1 C T 4: 123,350,436 (GRCm39) R3809Q probably benign Het
Manea T C 4: 26,328,228 (GRCm39) Y271C probably damaging Het
Mroh2b A G 15: 4,971,036 (GRCm39) T1014A probably benign Het
Nek5 A G 8: 22,598,056 (GRCm39) F200L probably damaging Het
Nipal1 A G 5: 72,824,984 (GRCm39) I226V probably benign Het
Nipsnap3a A T 4: 52,994,159 (GRCm39) N80I probably damaging Het
Nmur1 G A 1: 86,314,100 (GRCm39) P389S probably benign Het
Or10d5 G T 9: 39,861,349 (GRCm39) C239* probably null Het
Or1p1 T C 11: 74,179,511 (GRCm39) L13P possibly damaging Het
Or8u10 T C 2: 85,915,251 (GRCm39) Y290C probably damaging Het
Patl2 A C 2: 121,958,006 (GRCm39) V84G probably benign Het
Pcdhb4 T C 18: 37,442,328 (GRCm39) V546A probably damaging Het
Phf20l1 G T 15: 66,469,599 (GRCm39) S168I possibly damaging Het
Phgdh T C 3: 98,247,045 (GRCm39) N35S probably benign Het
Pigw A T 11: 84,768,789 (GRCm39) M180K probably damaging Het
Pkhd1 G T 1: 20,270,925 (GRCm39) H3209Q probably benign Het
Plbd2 A G 5: 120,624,861 (GRCm39) F436L probably damaging Het
Plch2 T C 4: 155,068,553 (GRCm39) T1358A probably benign Het
Poll C T 19: 45,541,496 (GRCm39) V491M probably damaging Het
Polr1e A G 4: 45,024,553 (GRCm39) probably null Het
Ppp1r35 G A 5: 137,778,279 (GRCm39) W258* probably null Het
Ptpdc1 A T 13: 48,740,142 (GRCm39) F430I probably benign Het
Ramp2 T C 11: 101,138,765 (GRCm39) V148A possibly damaging Het
Rapgef6 T C 11: 54,501,747 (GRCm39) probably null Het
Rbm5 A G 9: 107,627,593 (GRCm39) probably null Het
Rnf39 A T 17: 37,254,241 (GRCm39) S88C probably benign Het
Rpl12 A G 2: 32,853,836 (GRCm39) I155V probably benign Het
Scart2 A T 7: 139,841,520 (GRCm39) T275S probably benign Het
Senp5 C T 16: 31,794,847 (GRCm39) E596K unknown Het
Serpinb9d A G 13: 33,379,916 (GRCm39) Y85C probably benign Het
Serpinf1 T A 11: 75,307,142 (GRCm39) Y65F probably benign Het
Snrnp200 G A 2: 127,068,404 (GRCm39) probably null Het
Spatc1 A T 15: 76,152,568 (GRCm39) Q66L probably benign Het
Tet3 TGGCCCAGGCCCAGGC TGGCCCAGGCCCAGGCCCAGGC 6: 83,345,211 (GRCm39) probably benign Het
Traf3ip1 A G 1: 91,439,110 (GRCm39) D342G probably benign Het
Txk T A 5: 72,853,922 (GRCm39) T472S probably damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Utrn A C 10: 12,315,535 (GRCm39) N3025K possibly damaging Het
Vmn1r17 T A 6: 57,337,862 (GRCm39) M168L probably benign Het
Vmn1r77 T A 7: 11,775,694 (GRCm39) S157T probably benign Het
Zfp977 A G 7: 42,229,884 (GRCm39) S214P probably benign Het
Zscan10 T C 17: 23,828,979 (GRCm39) L507P possibly damaging 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
IGL02619:Ptprh APN 7 4,552,498 (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
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
Predicted Primers PCR Primer
(F):5'- CACCCAGTTAGTGTCTGAGTTG -3'
(R):5'- TTCTTAGATGACTGGTCCCGG -3'

Sequencing Primer
(F):5'- CTGAGTTGGGCTGGCCAAG -3'
(R):5'- ATGACTGGTCCCGGGTTCC -3'
Posted On 2019-10-07