Incidental Mutation 'R0018:Ptprh'
ID 64937
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 038313-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0018 (G1)
Quality Score 141
Status Validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 4604845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably null
Transcript: ENSMUST00000049113
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429

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 null
Transcript: ENSMUST00000166650
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429

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 null
Transcript: ENSMUST00000166650
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429

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: ENSMUST00000205341
Predicted Effect probably benign
Transcript: ENSMUST00000206999
Meta Mutation Damage Score 0.9203 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (64/64)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,532,162 (GRCm39) probably null Het
Afp A C 5: 90,654,600 (GRCm39) Q546P probably damaging Het
Api5 A T 2: 94,251,329 (GRCm39) probably null Het
Atp2b4 T A 1: 133,645,609 (GRCm39) I982F probably damaging Het
BC024139 G A 15: 76,005,087 (GRCm39) Q592* probably null Het
Capn7 T A 14: 31,076,069 (GRCm39) C290* probably null Het
Ccn1 A G 3: 145,355,186 (GRCm39) L23P probably damaging Het
Celsr1 T A 15: 85,915,243 (GRCm39) D910V possibly damaging Het
Chga T C 12: 102,524,764 (GRCm39) S45P probably damaging Het
Cpne2 T A 8: 95,282,681 (GRCm39) C59S possibly damaging Het
Cyp2b13 G A 7: 25,785,375 (GRCm39) R248H probably benign Het
Dennd1a T A 2: 37,748,472 (GRCm39) T336S possibly damaging Het
Drc7 A G 8: 95,800,862 (GRCm39) Y628C probably damaging Het
Dse A G 10: 34,029,464 (GRCm39) V542A probably benign Het
Dspp A T 5: 104,326,096 (GRCm39) S820C unknown Het
Efcab3 G A 11: 104,612,378 (GRCm39) probably null Het
Eif5b T C 1: 38,057,970 (GRCm39) S91P unknown Het
Epop A G 11: 97,519,017 (GRCm39) V364A probably benign Het
Ext2 G A 2: 93,626,037 (GRCm39) P341L probably damaging Het
Galns T C 8: 123,311,724 (GRCm39) T429A probably benign Het
Gsx2 A G 5: 75,237,828 (GRCm39) K260R probably damaging Het
H2-M10.6 A C 17: 37,124,941 (GRCm39) H286P probably damaging Het
Hectd4 A G 5: 121,392,242 (GRCm39) N169D possibly damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Hmcn1 T C 1: 150,528,302 (GRCm39) D3282G probably benign Het
Hnmt T A 2: 23,893,640 (GRCm39) N285Y possibly damaging Het
Hr A G 14: 70,795,717 (GRCm39) R450G probably benign Het
Kat6a A G 8: 23,419,289 (GRCm39) D684G possibly damaging Het
Kif27 T G 13: 58,435,867 (GRCm39) I1309L probably benign Het
Mab21l4 T A 1: 93,082,327 (GRCm39) D264V probably benign Het
Man2b1 T A 8: 85,824,118 (GRCm39) V1005E probably damaging Het
Me2 A T 18: 73,924,923 (GRCm39) F265I possibly damaging Het
Myo9a A T 9: 59,779,007 (GRCm39) T1588S probably benign Het
Neu4 T A 1: 93,953,060 (GRCm39) D476E probably benign Het
Nlrp9c T A 7: 26,071,423 (GRCm39) Q895L possibly damaging Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or1p1c A C 11: 74,160,934 (GRCm39) T240P probably benign Het
Pdzd8 C T 19: 59,289,105 (GRCm39) R765H probably damaging Het
Plk1 T C 7: 121,768,208 (GRCm39) probably null Het
Ppfia2 A G 10: 106,678,647 (GRCm39) probably benign Het
Prkdc T C 16: 15,544,406 (GRCm39) Y1799H probably benign Het
Psmc1 T C 12: 100,082,951 (GRCm39) probably benign Het
Ptchd3 A C 11: 121,733,170 (GRCm39) I687L probably benign Het
Pus3 A G 9: 35,477,920 (GRCm39) D384G probably benign Het
Rab44 C T 17: 29,358,354 (GRCm39) P181S probably benign Het
Rasa2 A G 9: 96,454,016 (GRCm39) S307P probably damaging Het
Rbpms2 A G 9: 65,558,360 (GRCm39) D142G probably damaging Het
Reln A T 5: 22,130,369 (GRCm39) D2647E probably benign Het
Ryr2 G A 13: 11,610,109 (GRCm39) T4239I possibly damaging Het
Sctr C A 1: 119,971,286 (GRCm39) probably benign Het
Serpinb6e A T 13: 34,021,828 (GRCm39) Y167N probably damaging Het
Slc13a5 T C 11: 72,157,301 (GRCm39) I31V probably benign Het
Slc15a4 A T 5: 127,679,074 (GRCm39) I422N probably damaging Het
Stk24 G A 14: 121,545,419 (GRCm39) probably benign Het
Vmn1r213 T A 13: 23,196,311 (GRCm39) V298D probably damaging Het
Xdh C T 17: 74,232,020 (GRCm39) R230H probably benign Het
Zfp418 A T 7: 7,185,449 (GRCm39) S471C 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAGACCTGACAGTCCAATAGGGAG -3'
(R):5'- TGGCACTGACCCTCAGAACTTGAC -3'

Sequencing Primer
(F):5'- CCTTGGCTACATGAACTATGGG -3'
(R):5'- TCAGAACTTGACCAACTGGG -3'
Posted On 2013-08-06