Incidental Mutation 'RF022:Ptprh'
ID 603936
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 # RF022 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4552367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 966 (F966L)
Ref Sequence ENSEMBL: ENSMUSP00000042396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000065957] [ENSMUST00000166650] [ENSMUST00000206023] [ENSMUST00000206933] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably benign
Transcript: ENSMUST00000049113
AA Change: F966L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: F966L

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: ENSMUST00000065957
SMART Domains Protein: ENSMUSP00000070322
Gene: ENSMUSG00000004961

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
C2 124 226 2.8e-19 SMART
C2 255 369 4.76e-22 SMART
low complexity region 375 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166650
AA Change: F966L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: F966L

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: ENSMUST00000206023
Predicted Effect probably benign
Transcript: ENSMUST00000206933
Predicted Effect probably benign
Transcript: ENSMUST00000206999
AA Change: F966L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik GTACT GTACTACT 12: 110,634,877 (GRCm39) probably null Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Adam6b A T 12: 113,455,289 (GRCm39) E702V possibly damaging Het
Arpc3 A G 5: 122,538,489 (GRCm39) T7A probably benign Het
Bcl3 G A 7: 19,542,966 (GRCm39) P393L probably damaging Het
Ceacam9 A G 7: 16,459,304 (GRCm39) D201G possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Clgn A G 8: 84,152,235 (GRCm39) K579R probably damaging Het
Cntnap2 C T 6: 46,998,599 (GRCm39) R884W probably damaging Het
Col6a4 A T 9: 105,954,207 (GRCm39) D377E probably damaging Het
Cort GCCCACTCGT G 4: 149,209,869 (GRCm39) probably benign Het
D5Ertd579e A C 5: 36,772,006 (GRCm39) I796M probably damaging Het
Dmkn GGTGGAAGTGGTGGAAG GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG 7: 30,466,600 (GRCm39) probably benign Het
Dpagt1 G T 9: 44,243,262 (GRCm39) V266L possibly damaging Het
Ebf3 C A 7: 136,915,671 (GRCm39) probably benign Het
Exd2 AGCAGCCGCAGCC AGCAGCC 12: 80,522,691 (GRCm39) probably benign Het
Flywch1 CACTCCTGGTGT CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT 17: 23,981,141 (GRCm39) probably null Het
Gab3 CTT CTTATT X: 74,043,600 (GRCm39) probably null Het
Golga4 A G 9: 118,387,057 (GRCm39) D1393G probably damaging Het
Gpc5 G A 14: 115,789,688 (GRCm39) V521I probably damaging Het
Grik1 A T 16: 87,693,225 (GRCm39) N859K Het
Insrr G A 3: 87,711,792 (GRCm39) A511T possibly damaging Het
Isx A G 8: 75,600,474 (GRCm39) D69G probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lkaaear1 CAGCTCCAG CAGCTCCAGGTCGAGCTCCAG 2: 181,339,370 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Magel2 A G 7: 62,029,841 (GRCm39) E915G unknown Het
Maml3 A G 3: 51,764,083 (GRCm39) S294P probably damaging Het
Mamld1 AGC AGCCGC X: 70,162,426 (GRCm39) probably benign Het
Mef2d A T 3: 88,075,574 (GRCm39) T486S probably benign Het
Ms4a8a A G 19: 11,053,689 (GRCm39) V139A possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2z8 T G 8: 72,812,468 (GRCm39) *315G probably null Het
Pdik1l GTTTTTGTTTT GTTTTTGTTTTTTTTTTGTTTT 4: 134,006,678 (GRCm39) probably null Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,296,817 (GRCm39) L177P probably damaging Het
Ppp1r13l ACAGGCACCCTGCTCCGGC AC 7: 19,102,467 (GRCm39) probably benign Het
Rad17 A G 13: 100,773,593 (GRCm39) L132S probably damaging Het
Raph1 GG GGGGG 1: 60,528,426 (GRCm39) probably benign Het
Rnf126 AGGACGAGG AG 10: 79,594,977 (GRCm39) probably null Het
Rwdd2b C T 16: 87,233,558 (GRCm39) A181T probably benign Het
Sh3pxd2b GCCTGT GCCTGTTCCTGT 11: 32,373,054 (GRCm39) probably benign Het
Six3 CGG CGGTGG 17: 85,928,784 (GRCm39) probably benign Het
Sla C T 15: 66,654,593 (GRCm39) G231D probably benign Het
Tcof1 CAG CAGTAG 18: 60,968,807 (GRCm39) probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tgm5 T A 2: 120,902,092 (GRCm39) E192D probably damaging Het
Tmem123 A G 9: 7,791,414 (GRCm39) Y171C probably damaging Het
Tnrc18 G A 5: 142,759,385 (GRCm39) A999V Het
Triobp C T 15: 78,858,482 (GRCm39) P1361L probably benign Het
Ubac1 A T 2: 25,895,470 (GRCm39) W328R probably damaging Het
Ube2q1 A G 3: 89,688,200 (GRCm39) N324S probably benign Het
Zcchc2 T C 1: 105,939,472 (GRCm39) I407T possibly damaging Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) 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
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
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'- AGTATACCAGCCCTTCCTGCAC -3'
(R):5'- ACAGAGGTGAGGAGCTTTCG -3'

Sequencing Primer
(F):5'- CACTTGGACCACAGGAGATGC -3'
(R):5'- TTGAGGGCCCTTCAGGAAG -3'
Posted On 2019-12-04