Incidental Mutation 'R5869:Ptprh'
ID 454327
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 044077-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5869 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4604939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 35 (D35G)
Ref Sequence ENSEMBL: ENSMUSP00000145543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably benign
Transcript: ENSMUST00000049113
AA Change: D35G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: D35G

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: ENSMUST00000166650
AA Change: D35G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: D35G

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
AA Change: D35G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.1247 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 93% (68/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,161,450 (GRCm39) probably benign Het
Arsk T C 13: 76,239,903 (GRCm39) E100G probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Aspscr1 T C 11: 120,579,746 (GRCm39) I31T possibly damaging Het
Asz1 T C 6: 18,074,939 (GRCm39) probably benign Het
Calm5 T A 13: 3,904,321 (GRCm39) probably benign Het
Car5a G A 8: 122,643,119 (GRCm39) T295I probably benign Het
Ccdc174 T A 6: 91,862,399 (GRCm39) probably benign Het
Celsr2 G A 3: 108,321,225 (GRCm39) A529V probably damaging Het
Cep192 A G 18: 67,948,935 (GRCm39) D252G probably benign Het
Clcnka A G 4: 141,122,276 (GRCm39) F217L probably benign Het
Cnot3 A T 7: 3,647,929 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,907 (GRCm39) probably benign Het
Cstf3 A G 2: 104,489,585 (GRCm39) probably null Het
Dcdc2a C T 13: 25,291,713 (GRCm39) P233S probably benign Het
Ddx55 A G 5: 124,706,745 (GRCm39) T581A probably benign Het
Exo1 T C 1: 175,728,849 (GRCm39) S638P possibly damaging Het
Fam135a T C 1: 24,068,511 (GRCm39) E616G possibly damaging Het
Fignl2 T C 15: 100,951,161 (GRCm39) S374G unknown Het
Gm4799 A T 10: 82,790,283 (GRCm39) noncoding transcript Het
Hectd4 T C 5: 121,481,288 (GRCm39) probably null Het
Ighv1-76 T C 12: 115,811,658 (GRCm39) E65G probably damaging Het
Igsf9b C A 9: 27,234,531 (GRCm39) H465Q probably benign Het
Itga9 A G 9: 118,492,957 (GRCm39) D284G probably damaging Het
Itpr1 T C 6: 108,450,490 (GRCm39) S1940P probably benign Het
Kcnb1 A G 2: 167,029,991 (GRCm39) S185P probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Krt1 A T 15: 101,758,566 (GRCm39) F199L probably damaging Het
Lpin2 A G 17: 71,539,271 (GRCm39) probably benign Het
Lrp1b A C 2: 40,894,615 (GRCm39) D2204E probably damaging Het
Mier3 T A 13: 111,851,384 (GRCm39) N427K probably damaging Het
Mmp12 GTAATAATAATAATAATAAT GTAATAATAATAATAAT 9: 7,348,446 (GRCm39) probably benign Het
Mroh3 T A 1: 136,113,861 (GRCm39) M643L probably benign Het
Myh11 A G 16: 14,048,664 (GRCm39) S548P probably damaging Het
Nat8f6 A C 6: 85,785,505 (GRCm39) L215V possibly damaging Het
Nlrp3 G A 11: 59,438,960 (GRCm39) R179Q probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Pias1 A T 9: 62,820,048 (GRCm39) D306E probably benign Het
Pick1 A G 15: 79,133,095 (GRCm39) D385G probably benign Het
Pitx3 A T 19: 46,125,735 (GRCm39) probably benign Het
Plpp3 T A 4: 105,052,159 (GRCm39) probably null Het
Prlhr C A 19: 60,456,059 (GRCm39) R169L probably damaging Het
Ptprf A C 4: 118,067,579 (GRCm39) M1872R probably damaging Het
Rnf130 A G 11: 49,976,642 (GRCm39) probably null Het
Rnf17 A C 14: 56,743,445 (GRCm39) E1337A possibly damaging Het
Sdk2 A G 11: 113,742,708 (GRCm39) Y734H probably damaging Het
Slc25a10 C T 11: 120,388,943 (GRCm39) T269I probably damaging Het
Slc4a11 A C 2: 130,526,379 (GRCm39) V855G probably benign Het
Slc5a5 C A 8: 71,344,974 (GRCm39) R111L probably damaging Het
Spart A T 3: 55,042,931 (GRCm39) M616L probably benign Het
Tmem229a T C 6: 24,954,686 (GRCm39) D356G probably damaging Het
Tmem30c A G 16: 57,086,925 (GRCm39) S293P probably damaging Het
Tnfrsf14 C A 4: 155,011,055 (GRCm39) probably null Het
Tnfrsf19 C T 14: 61,208,627 (GRCm39) R298H possibly damaging Het
Ttc21a A G 9: 119,787,858 (GRCm39) K809E probably benign Het
Ttn G A 2: 76,580,553 (GRCm39) P23447S probably damaging Het
Uap1 T A 1: 169,978,707 (GRCm39) probably null Het
Wdr82 A G 9: 106,062,503 (GRCm39) Q252R probably benign Het
Zfp523 T C 17: 28,413,967 (GRCm39) I34T probably benign Het
Zfp808 T A 13: 62,319,069 (GRCm39) H99Q 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
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
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'- GCTTGGATCGTGAAATCTGCC -3'
(R):5'- ATGCTTTTCTAATCTGGAAGCCC -3'

Sequencing Primer
(F):5'- GGATCGTGAAATCTGCCACCTTAAG -3'
(R):5'- GAAGCCCCGCTGTAATTCTCAG -3'
Posted On 2017-02-10