Incidental Mutation 'R7973:Ptprh'
ID 650709
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 046016-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7973 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4583887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 235 (T235N)
Ref Sequence ENSEMBL: ENSMUSP00000042396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049113
AA Change: T235N

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: T235N

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: T235N

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: T235N

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: T235N

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (53/54)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik A G 5: 115,084,112 (GRCm39) D76G probably benign Het
Abcg1 T C 17: 31,323,132 (GRCm39) V237A probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Akap11 A T 14: 78,752,506 (GRCm39) H122Q Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Arhgef4 C T 1: 34,763,518 (GRCm39) R925W possibly damaging Het
Arid1a C T 4: 133,480,381 (GRCm39) G181D probably damaging Het
Ash1l T A 3: 88,960,164 (GRCm39) S2299T probably benign Het
Atf7ip C T 6: 136,538,062 (GRCm39) Q432* probably null Het
B430306N03Rik T A 17: 48,623,483 (GRCm39) S10T probably benign Het
Bckdk A G 7: 127,505,539 (GRCm39) I221V probably benign Het
Brinp2 T C 1: 158,074,057 (GRCm39) Y688C probably damaging Het
Caml C T 13: 55,779,784 (GRCm39) L286F probably benign Het
Ccdc125 C T 13: 100,806,331 (GRCm39) probably benign Het
Cdh24 A T 14: 54,876,477 (GRCm39) V116E possibly damaging Het
Cenpe T A 3: 134,929,011 (GRCm39) I305N probably damaging Het
Cep41 C T 6: 30,680,130 (GRCm39) G33S probably damaging Het
Clec4b2 A T 6: 123,181,148 (GRCm39) I178L probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dapk1 T A 13: 60,909,377 (GRCm39) L1330Q probably damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Fmnl1 G T 11: 103,061,984 (GRCm39) probably benign Het
Galk1 A G 11: 115,903,435 (GRCm39) F24L possibly damaging Het
Hyal4 T A 6: 24,755,785 (GRCm39) M1K probably null Het
Ighe T C 12: 113,236,677 (GRCm39) T64A Het
Iqch A G 9: 63,432,228 (GRCm39) I389T possibly damaging Het
Ism2 G T 12: 87,333,769 (GRCm39) T92K possibly damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Kdm1b T C 13: 47,230,922 (GRCm39) S650P probably benign Het
Mapkapk5 T G 5: 121,663,776 (GRCm39) N426T possibly damaging Het
Mroh5 G T 15: 73,664,614 (GRCm39) Y90* probably null Het
Ncan T G 8: 70,550,225 (GRCm39) I1184L probably benign Het
Nectin3 T C 16: 46,216,484 (GRCm39) T439A probably benign Het
Neo1 G T 9: 58,897,476 (GRCm39) A160E probably damaging Het
Nosip T C 7: 44,726,784 (GRCm39) S295P possibly damaging Het
Nup205 T A 6: 35,222,274 (GRCm39) F1979L probably benign Het
Nxpe2 A T 9: 48,231,168 (GRCm39) D400E probably damaging Het
Or4a73 T A 2: 89,421,331 (GRCm39) I43F probably damaging Het
Pfkfb4 G A 9: 108,854,179 (GRCm39) R351Q probably damaging Het
Psg29 T C 7: 16,944,462 (GRCm39) I324T probably benign Het
Ralgapa2 T A 2: 146,230,481 (GRCm39) N981I possibly damaging Het
Ralgps1 T C 2: 33,036,651 (GRCm39) Y421C probably damaging Het
Sf3b3 T C 8: 111,542,922 (GRCm39) E845G possibly damaging Het
Sgk1 G T 10: 21,870,054 (GRCm39) S31I probably benign Het
Sim1 T G 10: 50,857,419 (GRCm39) Y390D probably damaging Het
Slain2 T A 5: 73,112,779 (GRCm39) Y271* probably null Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Stab1 A T 14: 30,881,590 (GRCm39) probably null Het
Supv3l1 A T 10: 62,285,202 (GRCm39) L88Q probably damaging Het
Syt2 C A 1: 134,668,570 (GRCm39) probably null Het
Tpr C T 1: 150,279,638 (GRCm39) R256C probably damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Usp32 A G 11: 84,913,634 (GRCm39) I899T probably damaging Het
Usp6nl G T 2: 6,413,762 (GRCm39) R96M probably damaging Het
Vmn1r75 A G 7: 11,614,961 (GRCm39) D231G probably benign Het
Vmn2r42 T C 7: 8,197,872 (GRCm39) E249G probably benign Het
Zbtb34 C T 2: 33,301,531 (GRCm39) G337R probably benign Het
Zfp457 T A 13: 67,441,882 (GRCm39) H231L probably benign Het
Zfp715 C T 7: 42,949,321 (GRCm39) G213D possibly damaging Het
Zfp760 T G 17: 21,941,084 (GRCm39) H86Q 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
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
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'- TTCTGACATACACCTACAATTCAGGC -3'
(R):5'- AAACCTGAGGGTCGAAGGTC -3'

Sequencing Primer
(F):5'- CAATTCAGGCATCTAGGTAGCACTG -3'
(R):5'- GGGTCGAAGGTCAAAACAACATCTC -3'
Posted On 2020-09-15