Incidental Mutation 'R6063:Ptprh'
ID 483910
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6063 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4576361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 300 (T300S)
Ref Sequence ENSEMBL: ENSMUSP00000145543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049113
AA Change: T300S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: T300S

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 possibly damaging
Transcript: ENSMUST00000166650
AA Change: T300S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: T300S

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 possibly damaging
Transcript: ENSMUST00000206999
AA Change: T300S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.2374 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,483,318 (GRCm39) R1713C unknown Het
Ano6 C T 15: 95,846,298 (GRCm39) T512I probably damaging Het
Ap3s1 T C 18: 46,887,505 (GRCm39) V46A probably benign Het
Art2a C A 7: 101,204,413 (GRCm39) V42F probably damaging Het
Asph C T 4: 9,531,960 (GRCm39) V386M probably benign Het
B4galnt4 T A 7: 140,644,643 (GRCm39) D179E probably benign Het
Bbx T C 16: 50,071,730 (GRCm39) I232V probably benign Het
C1ql2 A G 1: 120,269,321 (GRCm39) I159V probably benign Het
Ccar1 A G 10: 62,612,496 (GRCm39) V223A possibly damaging Het
Cd2ap A T 17: 43,136,802 (GRCm39) L277I probably benign Het
Cfap44 G A 16: 44,250,255 (GRCm39) E778K probably benign Het
Chd3 A T 11: 69,240,063 (GRCm39) D1626E probably benign Het
Crocc C T 4: 140,769,032 (GRCm39) G505S probably benign Het
Crocc T A 4: 140,773,851 (GRCm39) Q72L probably damaging Het
Drosha T C 15: 12,834,156 (GRCm39) probably benign Het
Eps8l1 T A 7: 4,474,296 (GRCm39) S256T possibly damaging Het
F830045P16Rik A G 2: 129,316,310 (GRCm39) V133A probably damaging Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fhdc1 G A 3: 84,353,336 (GRCm39) L630F probably benign Het
Gon4l T C 3: 88,807,306 (GRCm39) S1667P probably damaging Het
Greb1l A C 18: 10,557,340 (GRCm39) K1780T probably damaging Het
H2-Q10 C T 17: 35,781,026 (GRCm39) T8M probably benign Het
Hmcn2 A T 2: 31,324,725 (GRCm39) T4215S probably benign Het
I0C0044D17Rik G A 4: 98,708,576 (GRCm39) probably benign Het
Ifi204 A G 1: 173,579,223 (GRCm39) F541L probably benign Het
Igkv6-17 C T 6: 70,348,764 (GRCm39) A45V probably damaging Het
Intu G A 3: 40,608,524 (GRCm39) A161T probably damaging Het
Kcnmb2 A G 3: 32,233,141 (GRCm39) Y73C probably damaging Het
Lrit1 T C 14: 36,776,945 (GRCm39) F22L probably benign Het
Lrp1b A T 2: 41,174,156 (GRCm39) C699* probably null Het
Lrrc8d A G 5: 105,959,992 (GRCm39) D134G probably benign Het
Map1b T C 13: 99,567,645 (GRCm39) D1692G unknown Het
Met C T 6: 17,491,967 (GRCm39) S243F probably damaging Het
Mlph C A 1: 90,855,882 (GRCm39) H96Q probably damaging Het
Mycbp2 A T 14: 103,372,582 (GRCm39) V4088D probably damaging Het
Nampt T A 12: 32,898,658 (GRCm39) S425T probably damaging Het
Nts G A 10: 102,320,856 (GRCm39) H78Y probably benign Het
Nxf1 A G 19: 8,745,151 (GRCm39) E467G possibly damaging Het
Olfml2a C A 2: 38,841,155 (GRCm39) D230E probably benign Het
Or4b13 C A 2: 90,082,771 (GRCm39) C187F probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Pcsk5 A G 19: 17,432,045 (GRCm39) probably null Het
Pde5a C A 3: 122,618,574 (GRCm39) T629K probably benign Het
Plcb3 G T 19: 6,940,202 (GRCm39) R462S possibly damaging Het
Pnpla6 T A 8: 3,574,156 (GRCm39) M469K probably benign Het
Pram1 A T 17: 33,860,386 (GRCm39) K318* probably null Het
Prkd1 T C 12: 50,388,826 (GRCm39) R906G probably benign Het
Rdh16f2 A G 10: 127,712,743 (GRCm39) Y247C probably benign Het
Rimbp3 A G 16: 17,028,781 (GRCm39) E735G probably damaging Het
Sall3 G A 18: 81,017,470 (GRCm39) P153S possibly damaging Het
Samd4b T A 7: 28,123,056 (GRCm39) M1L possibly damaging Het
Septin12 T C 16: 4,810,127 (GRCm39) E136G probably damaging Het
Shpk A T 11: 73,104,270 (GRCm39) K140* probably null Het
Sidt1 G T 16: 44,079,829 (GRCm39) F608L probably benign Het
Skint5 A G 4: 113,347,842 (GRCm39) Y1300H probably benign Het
Slc22a28 G A 19: 8,094,386 (GRCm39) P212S probably benign Het
Slc22a5 A T 11: 53,758,359 (GRCm39) F480L possibly damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc3a1 C T 17: 85,335,951 (GRCm39) P31L probably benign Het
Slc4a7 T C 14: 14,793,964 (GRCm38) V1074A possibly damaging Het
Snx2 C T 18: 53,342,697 (GRCm39) Q254* probably null Het
Sox30 G A 11: 45,882,769 (GRCm39) V600I probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Tdpoz9 A G 3: 93,957,408 (GRCm39) F7L probably benign Het
Tdrd7 A G 4: 46,005,486 (GRCm39) T431A probably benign Het
Tenm2 A T 11: 36,054,544 (GRCm39) probably null Het
Tigar A G 6: 127,068,164 (GRCm39) S85P probably benign Het
Tnr A C 1: 159,740,254 (GRCm39) M1143L probably benign Het
Trio G T 15: 27,891,465 (GRCm39) Q429K possibly damaging Het
Urb1 T C 16: 90,585,985 (GRCm39) I452M probably benign Het
Uroc1 A T 6: 90,324,910 (GRCm39) E461V probably benign Het
Vax1 C A 19: 59,157,036 (GRCm39) R99L unknown Het
Xab2 A T 8: 3,663,051 (GRCm39) I510N possibly damaging Het
Zbtb34 A T 2: 33,301,842 (GRCm39) I233K possibly damaging Het
Zbtb47 A G 9: 121,592,598 (GRCm39) E306G probably benign Het
Zfp27 A G 7: 29,593,727 (GRCm39) F746S probably damaging Het
Zfp719 C T 7: 43,239,050 (GRCm39) Q213* probably null Het
Zswim6 T C 13: 107,865,112 (GRCm39) noncoding transcript 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
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'- GGGATCAGAGACCAGATGTTG -3'
(R):5'- TTTCAGCCCCAAACCCAGTG -3'

Posted On 2017-07-14