Incidental Mutation 'R4081:Ptprh'
ID 316881
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 040977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4081 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4583987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 202 (T202S)
Ref Sequence ENSEMBL: ENSMUSP00000145543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably damaging
Transcript: ENSMUST00000049113
AA Change: T202S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: T202S

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: ENSMUST00000103950
Predicted Effect probably damaging
Transcript: ENSMUST00000166650
AA Change: T202S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: T202S

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: T202S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.2427 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (58/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Adad1 A G 3: 37,118,512 (GRCm39) probably null Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Arhgef1 G T 7: 24,625,271 (GRCm39) D850Y probably damaging Het
Ccnf T C 17: 24,442,872 (GRCm39) *778W probably null Het
Cd53 T C 3: 106,669,461 (GRCm39) H179R probably benign Het
Cit G T 5: 116,086,109 (GRCm39) R891L probably damaging Het
Clec4b1 T C 6: 123,046,733 (GRCm39) probably null Het
Cntrl C A 2: 35,051,938 (GRCm39) probably benign Het
Cntrl A G 2: 35,065,137 (GRCm39) D2148G probably damaging Het
Cpa5 T C 6: 30,631,228 (GRCm39) S381P probably benign Het
Crybg1 A T 10: 43,851,035 (GRCm39) V1612D probably damaging Het
Cwc25 G T 11: 97,644,744 (GRCm39) Q205K probably benign Het
Cyp2d11 A T 15: 82,276,002 (GRCm39) I193N possibly damaging Het
Gdi2 T A 13: 3,598,866 (GRCm39) C17S probably benign Het
Gm5436 T A 12: 84,305,489 (GRCm39) noncoding transcript Het
Ifit1bl1 T C 19: 34,572,040 (GRCm39) Y139C possibly damaging Het
Insr A T 8: 3,261,391 (GRCm39) M321K probably benign Het
Ippk T A 13: 49,599,852 (GRCm39) L237Q probably damaging Het
Itpr1 T A 6: 108,368,796 (GRCm39) I149N probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrp2 T A 2: 69,343,617 (GRCm39) H914L probably damaging Het
Myd88 G T 9: 119,169,053 (GRCm39) probably benign Het
Myh2 T C 11: 67,081,256 (GRCm39) S1291P probably benign Het
Mylk3 G A 8: 86,055,311 (GRCm39) L549F probably damaging Het
Otog T C 7: 45,937,723 (GRCm39) S1811P possibly damaging Het
Phrf1 T C 7: 140,838,970 (GRCm39) probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Ptprr A T 10: 116,072,615 (GRCm39) K329N probably benign Het
Rgl3 T A 9: 21,898,971 (GRCm39) H156L possibly damaging Het
Sema6b A G 17: 56,435,307 (GRCm39) V312A probably damaging Het
Sez6l T C 5: 112,609,032 (GRCm39) I606V probably benign Het
Slco1a1 T C 6: 141,881,688 (GRCm39) E148G probably damaging Het
Snph T C 2: 151,435,722 (GRCm39) D402G probably damaging Het
Sohlh1 A G 2: 25,735,734 (GRCm39) V135A probably benign Het
Sox14 T C 9: 99,757,277 (GRCm39) E154G possibly damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Szt2 A G 4: 118,230,764 (GRCm39) probably benign Het
Tab2 G A 10: 7,795,595 (GRCm39) P296S probably damaging Het
Tbx15 A G 3: 99,220,370 (GRCm39) D48G possibly damaging Het
Tex10 T C 4: 48,468,873 (GRCm39) S101G probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vmn1r66 A G 7: 10,008,733 (GRCm39) I100T probably damaging Het
Vmn2r106 A T 17: 20,487,818 (GRCm39) Y860* probably null Het
Vwa3b C T 1: 37,074,905 (GRCm39) T24I probably damaging Het
Zfp541 G A 7: 15,806,060 (GRCm39) S65N probably benign Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y probably 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
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
Predicted Primers PCR Primer
(F):5'- TGGCATGAGTAGTATGGGCTAC -3'
(R):5'- CAGGAACAACGCTGATTTCCC -3'

Sequencing Primer
(F):5'- GGGCTACATACTCAGAACATATTAAC -3'
(R):5'- GGAACAACGCTGATTTCCCTTTTTG -3'
Posted On 2015-05-15