Incidental Mutation 'R5547:Ptprh'
ID 436345
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 043105-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5547 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 4557221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 691 (S691*)
Ref Sequence ENSEMBL: ENSMUSP00000145543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably null
Transcript: ENSMUST00000049113
AA Change: S691*
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: S691*

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
AA Change: S691*
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: S691*

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: ENSMUST00000205417
Predicted Effect probably null
Transcript: ENSMUST00000206999
AA Change: S691*
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A G 18: 56,661,356 (GRCm39) S492P probably damaging Het
Arfgef1 A T 1: 10,231,201 (GRCm39) D1133E probably damaging Het
Avpi1 T C 19: 42,113,382 (GRCm39) K25R probably damaging Het
Bank1 T C 3: 135,772,110 (GRCm39) S708G probably damaging Het
C1qtnf2 A G 11: 43,381,794 (GRCm39) E202G probably damaging Het
C6 T A 15: 4,837,970 (GRCm39) V860E probably benign Het
Cbr1 T A 16: 93,406,698 (GRCm39) V138E probably damaging Het
Cdip1 A G 16: 4,587,988 (GRCm39) S2P probably damaging Het
Cep126 T C 9: 8,100,428 (GRCm39) N702S probably damaging Het
Chek1 T C 9: 36,623,400 (GRCm39) I381V probably benign Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cryz C T 3: 154,317,194 (GRCm39) R138* probably null Het
Ctsll3 T A 13: 60,948,551 (GRCm39) M103L probably benign Het
Daxx TGATGATGACGATGATGACGATGATGA TGATGATGACGATGATGA 17: 34,131,615 (GRCm39) probably benign Het
Daxx CGATGATGATGA CGA 17: 34,131,633 (GRCm39) probably benign Het
Dsg1a T G 18: 20,469,097 (GRCm39) probably null Het
Eya4 T C 10: 22,985,753 (GRCm39) E583G possibly damaging Het
Flt1 T A 5: 147,591,948 (GRCm39) S505C probably damaging Het
Gpr161 C A 1: 165,133,982 (GRCm39) F81L possibly damaging Het
H2-T15 G A 17: 36,368,796 (GRCm39) H95Y possibly damaging Het
Hmcn1 A G 1: 150,613,257 (GRCm39) V1390A possibly damaging Het
Ifi44l C T 3: 151,467,142 (GRCm39) V63I unknown Het
Klhl3 C T 13: 58,250,243 (GRCm39) probably null Het
Lekr1 T A 3: 65,576,601 (GRCm39) probably null Het
Lhx5 A G 5: 120,572,675 (GRCm39) Q98R probably benign Het
Nuggc A G 14: 65,879,330 (GRCm39) K681E possibly damaging Het
Numa1 G T 7: 101,663,137 (GRCm39) A735S probably damaging Het
Oog3 A T 4: 143,884,598 (GRCm39) L446Q probably benign Het
Or5ac19 G A 16: 59,089,479 (GRCm39) L184F probably benign Het
Otogl C T 10: 107,617,909 (GRCm39) E1735K possibly damaging Het
Pcsk5 T C 19: 17,729,488 (GRCm39) D119G probably benign Het
Pgpep1 T C 8: 71,105,069 (GRCm39) K64E probably benign Het
Prr19 A C 7: 25,003,388 (GRCm39) D334A probably damaging Het
Recql4 G A 15: 76,589,994 (GRCm39) R684* probably null Het
Rnf112 C T 11: 61,341,854 (GRCm39) V317I possibly damaging Het
Rnf40 T C 7: 127,188,302 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Spag17 T C 3: 99,963,468 (GRCm39) V1062A probably benign Het
Tbc1d1 A G 5: 64,481,887 (GRCm39) D696G possibly damaging Het
Tdo2 T C 3: 81,866,247 (GRCm39) R339G probably damaging Het
Tmem245 C T 4: 56,910,156 (GRCm39) probably null Het
Trim24 A G 6: 37,942,485 (GRCm39) E965G probably damaging Het
Trmt112 T C 19: 6,888,156 (GRCm39) S103P probably damaging Het
Trpv6 A T 6: 41,613,088 (GRCm39) V26D possibly damaging Het
Zfp850 A G 7: 27,688,844 (GRCm39) C455R probably damaging Het
Zfp946 T C 17: 22,673,873 (GRCm39) I209T probably benign Het
Zfp957 T C 14: 79,451,406 (GRCm39) N131S 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
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'- AGCTTGAACACAAATTTGAGGCAG -3'
(R):5'- TGTGAGTGCTAGAGTCCCAAG -3'

Sequencing Primer
(F):5'- CACAAATTTGAGGCAGATACAAAG -3'
(R):5'- TGCTAGAGTCCCAAGATTCAGTG -3'
Posted On 2016-10-24