Incidental Mutation 'R7863:Ptprh'
ID 607647
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 045916-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7863 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 4606097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000042396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably benign
Transcript: ENSMUST00000049113
AA Change: M1L

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: M1L

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: ENSMUST00000206999
AA Change: M1L

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,101 (GRCm39) S829P probably benign Het
Abca1 A T 4: 53,107,179 (GRCm39) F183I probably benign Het
Abca12 A T 1: 71,332,656 (GRCm39) M1235K probably damaging Het
Abca7 A G 10: 79,844,655 (GRCm39) D1488G probably damaging Het
Adgrl3 A G 5: 81,660,596 (GRCm39) Y387C probably damaging Het
Adnp T C 2: 168,031,270 (GRCm39) K14E possibly damaging Het
Ago3 T C 4: 126,243,990 (GRCm39) R721G possibly damaging Het
Aldh3b3 T A 19: 4,015,322 (GRCm39) Y196* probably null Het
Alox12b T C 11: 69,057,753 (GRCm39) W506R probably damaging Het
Arid4b A G 13: 14,338,734 (GRCm39) I402V probably benign Het
Cep55 C T 19: 38,046,247 (GRCm39) probably benign Het
Chl1 A G 6: 103,683,475 (GRCm39) N767S possibly damaging Het
Cldn6 A G 17: 23,900,096 (GRCm39) N20S probably benign Het
Col23a1 A T 11: 51,463,597 (GRCm39) I420F probably damaging Het
Cxcr6 G A 9: 123,639,914 (GRCm39) R312Q probably damaging Het
Cyp4a10 T C 4: 115,375,622 (GRCm39) V35A probably benign Het
Def6 A G 17: 28,446,841 (GRCm39) N548D possibly damaging Het
Dock6 A G 9: 21,757,954 (GRCm39) V50A possibly damaging Het
Epha8 T A 4: 136,660,966 (GRCm39) I639F probably damaging Het
Ephx2 T A 14: 66,344,692 (GRCm39) R211* probably null Het
Espn C T 4: 152,236,616 (GRCm39) V17M probably damaging Het
Ezr A G 17: 7,008,863 (GRCm39) L403P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Golm1 T C 13: 59,797,383 (GRCm39) Y154C probably damaging Het
Gpam A G 19: 55,059,388 (GRCm39) Y820H probably damaging Het
Gpr12 T C 5: 146,520,370 (GRCm39) D184G possibly damaging Het
Gpr87 C T 3: 59,087,317 (GRCm39) A63T probably damaging Het
Hmx2 G T 7: 131,156,082 (GRCm39) G16V probably benign Het
Hspg2 T C 4: 137,292,135 (GRCm39) V4009A probably benign Het
Iglc3 T C 16: 18,884,248 (GRCm39) D61G not run Het
Ikzf2 G T 1: 69,609,796 (GRCm39) Q144K possibly damaging Het
Il1rap C T 16: 26,495,461 (GRCm39) R23C probably damaging Het
Kctd9 T A 14: 67,967,166 (GRCm39) D161E possibly damaging Het
Klhl8 T C 5: 104,019,968 (GRCm39) N351S probably benign Het
Krt28 G A 11: 99,255,999 (GRCm39) T420I possibly damaging Het
Marchf7 T A 2: 60,071,366 (GRCm39) H623Q probably benign Het
Max A G 12: 76,986,848 (GRCm39) I63T probably damaging Het
Mrpl28 T A 17: 26,343,615 (GRCm39) V125E possibly damaging Het
Mtmr10 T A 7: 63,969,205 (GRCm39) D322E probably benign Het
Mtrex T C 13: 113,045,435 (GRCm39) T366A probably benign Het
Nlrp4f A T 13: 65,342,059 (GRCm39) Y529N possibly damaging Het
Nlrx1 A G 9: 44,176,509 (GRCm39) I31T probably benign Het
Oaz2 G A 9: 65,596,449 (GRCm39) R171Q possibly damaging Het
Or4c121 T G 2: 89,024,295 (GRCm39) I28L probably benign Het
Or5a1 T G 19: 12,097,974 (GRCm39) D34A possibly damaging Het
Or5t16 T G 2: 86,819,424 (GRCm39) Y32S probably damaging Het
Pcdhgc4 T A 18: 37,951,027 (GRCm39) Y814* probably null Het
Pcm1 T A 8: 41,714,163 (GRCm39) I243K probably damaging Het
Pdcd11 A T 19: 47,085,403 (GRCm39) N171I probably damaging Het
Phf20l1 T A 15: 66,487,084 (GRCm39) V400E possibly damaging Het
Pira13 C T 7: 3,827,801 (GRCm39) probably null Het
Psg28 T A 7: 18,162,042 (GRCm39) T154S possibly damaging Het
Ptgs2 T A 1: 149,977,090 (GRCm39) M99K probably damaging Het
Rbp4 T C 19: 38,112,546 (GRCm39) T140A possibly damaging Het
Rhbdd3 G A 11: 5,053,236 (GRCm39) R12Q probably benign Het
Saal1 T C 7: 46,342,327 (GRCm39) N372S probably benign Het
Satb1 T C 17: 52,112,350 (GRCm39) E88G possibly damaging Het
Shfl G A 9: 20,782,672 (GRCm39) A79T possibly damaging Het
Slc49a3 A T 5: 108,593,400 (GRCm39) L146Q probably damaging Het
Slc6a9 G T 4: 117,721,207 (GRCm39) C319F probably damaging Het
Smc6 T G 12: 11,339,130 (GRCm39) V322G probably benign Het
Snrnp200 T A 2: 127,073,609 (GRCm39) F1336I probably damaging Het
Spg7 T A 8: 123,815,788 (GRCm39) probably null Het
Stab2 G A 10: 86,808,745 (GRCm39) T188I probably benign Het
Tbata A G 10: 61,011,521 (GRCm39) E19G probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ticrr T C 7: 79,331,760 (GRCm39) V757A possibly damaging Het
Tle1 T C 4: 72,059,529 (GRCm39) S261G probably null Het
Tlr3 T A 8: 45,850,774 (GRCm39) I708L probably benign Het
Tph2 A C 10: 114,915,906 (GRCm39) S422R probably damaging Het
Trim26 A G 17: 37,161,664 (GRCm39) T28A probably damaging Het
Trmt10c A G 16: 55,855,554 (GRCm39) L27S probably benign Het
Tubb6 T C 18: 67,534,790 (GRCm39) S230P probably damaging Het
Usf1 C T 1: 171,245,385 (GRCm39) Q266* probably null Het
Vegfa A G 17: 46,336,461 (GRCm39) F220L probably damaging Het
Vmn2r105 C T 17: 20,428,937 (GRCm39) C713Y probably benign Het
Vmn2r17 T A 5: 109,568,035 (GRCm39) S53T probably benign Het
Xirp2 A T 2: 67,343,074 (GRCm39) T1772S probably benign Het
Zfp462 T C 4: 55,007,747 (GRCm39) I62T probably benign Het
Zfp516 T A 18: 83,019,453 (GRCm39) I1157N probably benign Het
Zfp819 C A 7: 43,267,316 (GRCm39) Q600K 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
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
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
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'- GGCTTCTTCAAGTCTCTGGC -3'
(R):5'- AGATGTCCAGAATGTCTGTGTG -3'

Sequencing Primer
(F):5'- TGGCTGAGAGACCTTCCTC -3'
(R):5'- CTAAGAGACAGGGCAGGGC -3'
Posted On 2019-12-20