Incidental Mutation 'R4782:Ptprh'
ID 366593
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 # R4782 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4572576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 467 (H467Q)
Ref Sequence ENSEMBL: ENSMUSP00000145543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably benign
Transcript: ENSMUST00000049113
AA Change: H467Q

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: H467Q

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: H467Q

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: H467Q

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: H467Q

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,278,096 (GRCm39) E3092G probably damaging Het
Abhd12b C G 12: 70,215,838 (GRCm39) S170C probably damaging Het
Abtb2 A T 2: 103,547,644 (GRCm39) D1006V probably benign Het
Abtb3 A C 10: 85,490,414 (GRCm39) I1027L probably damaging Het
Adgrl1 A G 8: 84,662,202 (GRCm39) H1021R probably benign Het
Ago3 A T 4: 126,241,665 (GRCm39) probably null Het
Ahnak A G 19: 8,989,863 (GRCm39) probably benign Het
Akap6 CA C 12: 52,934,406 (GRCm39) probably null Het
Amotl2 T G 9: 102,597,322 (GRCm39) probably null Het
Ankrd34b T A 13: 92,574,813 (GRCm39) I15N probably damaging Het
Ap3d1 C T 10: 80,557,420 (GRCm39) probably null Het
Appl2 A T 10: 83,436,855 (GRCm39) D635E probably damaging Het
Arid1b C T 17: 5,389,496 (GRCm39) P1681S probably damaging Het
Atp10a T C 7: 58,440,843 (GRCm39) M496T probably benign Het
Atp2c2 A G 8: 120,475,891 (GRCm39) K595E probably damaging Het
Atpaf2 T C 11: 60,295,238 (GRCm39) H204R probably damaging Het
Atr G A 9: 95,744,850 (GRCm39) V56I probably benign Het
Bod1l G A 5: 41,991,006 (GRCm39) T183I probably benign Het
Ccdc168 T C 1: 44,098,203 (GRCm39) D965G possibly damaging Het
Ccdc171 A T 4: 83,599,253 (GRCm39) E689D probably damaging Het
Cdc73 T A 1: 143,503,613 (GRCm39) Q346L probably benign Het
Cert1 T C 13: 96,748,773 (GRCm39) V281A probably benign Het
Chd2 A T 7: 73,134,184 (GRCm39) M721K possibly damaging Het
Col22a1 T A 15: 71,673,774 (GRCm39) T981S unknown Het
Cpox G A 16: 58,492,986 (GRCm39) A207T probably damaging Het
Cym G A 3: 107,123,413 (GRCm39) T160I possibly damaging Het
D130043K22Rik T C 13: 25,062,023 (GRCm39) I664T probably damaging Het
Ddx4 C T 13: 112,750,230 (GRCm39) probably null Het
Ddx4 A T 13: 112,787,894 (GRCm39) V15E probably benign Het
Depdc1a G A 3: 159,232,273 (GRCm39) E675K probably damaging Het
Dglucy A T 12: 100,816,602 (GRCm39) M415L probably benign Het
Dlg4 C T 11: 69,917,780 (GRCm39) P21L probably damaging Het
Dmxl1 A T 18: 49,996,059 (GRCm39) N395I probably damaging Het
Dzank1 A T 2: 144,346,319 (GRCm39) C249S probably damaging Het
Efnb2 A T 8: 8,673,104 (GRCm39) probably null Het
Ercc6l2 T G 13: 63,982,552 (GRCm39) I244S probably damaging Het
Ewsr1 A T 11: 5,020,423 (GRCm39) M584K unknown Het
Fam193b A G 13: 55,691,284 (GRCm39) S197P probably damaging Het
Fanca A G 8: 124,014,941 (GRCm39) V689A probably damaging Het
Fbxo31 A T 8: 122,279,178 (GRCm39) Y436* probably null Het
Fbxo31 A G 8: 122,279,180 (GRCm39) Y436H probably damaging Het
Fcna T A 2: 25,515,338 (GRCm39) D215V probably damaging Het
Foxj3 A T 4: 119,478,857 (GRCm39) S438C unknown Het
Gcm2 T C 13: 41,256,970 (GRCm39) K260E possibly damaging Het
Gcnt4 A T 13: 97,083,914 (GRCm39) L403F possibly damaging Het
Gdf10 A G 14: 33,653,870 (GRCm39) T126A probably benign Het
Ggcx A G 6: 72,405,875 (GRCm39) K569E probably benign Het
Gm10250 C T 15: 5,150,578 (GRCm39) probably benign Het
Gpnmb G T 6: 49,022,417 (GRCm39) probably null Het
Ifi44 G A 3: 151,451,229 (GRCm39) P241S probably damaging Het
Irs1 T C 1: 82,265,184 (GRCm39) T1011A probably benign Het
Jag2 A T 12: 112,877,869 (GRCm39) S595T probably benign Het
Kif5a T A 10: 127,066,823 (GRCm39) Q960L probably benign Het
Kifc2 A G 15: 76,548,548 (GRCm39) E430G possibly damaging Het
Lama3 T A 18: 12,544,627 (GRCm39) C323* probably null Het
Lgsn T C 1: 31,242,823 (GRCm39) Y302H probably benign Het
Lmbrd1 G A 1: 24,784,056 (GRCm39) probably null Het
Lrpap1 A G 5: 35,256,622 (GRCm39) V120A probably damaging Het
Macrod2 T A 2: 140,261,858 (GRCm39) D46E possibly damaging Het
Mbd4 C A 6: 115,822,283 (GRCm39) R63L possibly damaging Het
Mfsd10 T C 5: 34,792,293 (GRCm39) probably benign Het
Mib2 G T 4: 155,744,229 (GRCm39) S144R probably benign Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Ndufs1 C A 1: 63,200,108 (GRCm39) G268V probably damaging Het
Nfs1 A G 2: 155,976,369 (GRCm39) V175A possibly damaging Het
Ngb G A 12: 87,146,999 (GRCm39) H73Y probably benign Het
Npepps G A 11: 97,117,652 (GRCm39) T549I probably damaging Het
Nr1h2 A G 7: 44,199,923 (GRCm39) V329A possibly damaging Het
Nsun6 T C 2: 15,041,137 (GRCm39) I151M possibly damaging Het
Ofcc1 T C 13: 40,155,368 (GRCm39) probably null Het
Or1e31 C T 11: 73,689,665 (GRCm39) C306Y probably benign Het
Or2y16 T A 11: 49,334,696 (GRCm39) F6Y probably benign Het
Or2z8 A G 8: 72,811,938 (GRCm39) N138S probably benign Het
Or51h1 T A 7: 102,308,041 (GRCm39) N4K possibly damaging Het
Or5an1c C T 19: 12,218,936 (GRCm39) V30I probably benign Het
Or8b46 A G 9: 38,450,371 (GRCm39) Y60C probably damaging Het
Parp6 A G 9: 59,542,267 (GRCm39) probably null Het
Pcnt C A 10: 76,245,411 (GRCm39) R1075S possibly damaging Het
Pla2g4f T C 2: 120,133,757 (GRCm39) E548G probably damaging Het
Polrmt G T 10: 79,575,357 (GRCm39) H725N probably benign Het
Pou2f3 T C 9: 43,051,153 (GRCm39) T178A probably damaging Het
Prtn3 C A 10: 79,717,899 (GRCm39) P169H probably damaging Het
Ptprd A G 4: 76,009,769 (GRCm39) I764T probably benign Het
Raph1 A T 1: 60,528,273 (GRCm39) I996N probably damaging Het
Rasa4 G A 5: 136,120,083 (GRCm39) W53* probably null Het
Rasgrp1 C T 2: 117,115,356 (GRCm39) R744Q probably benign Het
Rmnd5a T C 6: 71,390,333 (GRCm39) E141G probably damaging Het
Rps12 T C 10: 23,662,688 (GRCm39) I51M possibly damaging Het
Scn10a T G 9: 119,451,976 (GRCm39) S1316R possibly damaging Het
Sdhb A G 4: 140,704,777 (GRCm39) H246R possibly damaging Het
Setx G A 2: 29,034,058 (GRCm39) R332Q probably damaging Het
Siglec1 A C 2: 130,917,843 (GRCm39) S1011R probably damaging Het
Sin3b A C 8: 73,452,271 (GRCm39) I126L probably benign Het
Slc11a1 T G 1: 74,423,247 (GRCm39) L366R probably damaging Het
Slc12a1 C T 2: 125,002,999 (GRCm39) R177* probably null Het
Slc30a1 A C 1: 191,641,160 (GRCm39) K269Q probably benign Het
Slco1a5 T C 6: 142,194,533 (GRCm39) Y370C possibly damaging Het
Slf2 T A 19: 44,923,364 (GRCm39) probably null Het
Sltm A G 9: 70,496,339 (GRCm39) H958R probably damaging Het
Snrnp40 A G 4: 130,256,549 (GRCm39) I91M probably damaging Het
Spta1 A T 1: 174,058,232 (GRCm39) Q1900L probably benign Het
Srgn C T 10: 62,333,631 (GRCm39) E49K possibly damaging Het
Ssu2 A C 6: 112,353,411 (GRCm39) C238G probably damaging Het
Terf2 G T 8: 107,803,307 (GRCm39) H425Q probably benign Het
Thra G A 11: 98,646,990 (GRCm39) S37N probably benign Het
Toporsl A G 4: 52,610,845 (GRCm39) D246G probably damaging Het
Ubap2l G A 3: 89,928,210 (GRCm39) T553M probably damaging Het
Usp10 A G 8: 120,667,930 (GRCm39) Y77C probably benign Het
Utrn T C 10: 12,625,813 (GRCm39) T123A probably damaging Het
Vmn1r204 T G 13: 22,740,867 (GRCm39) F166C probably benign Het
Vmn2r14 T C 5: 109,369,370 (GRCm39) I68V probably benign Het
Wls C T 3: 159,603,082 (GRCm39) T165I probably benign Het
Wsb1 A G 11: 79,131,199 (GRCm39) M399T probably benign Het
Xbp1 C T 11: 5,471,167 (GRCm39) T58M probably damaging Het
Zbtb46 A T 2: 181,032,929 (GRCm39) D577E probably benign Het
Zfp366 A G 13: 99,382,991 (GRCm39) D718G probably damaging Het
Zfp408 A T 2: 91,475,369 (GRCm39) V595E possibly damaging Het
Zfp493 T A 13: 67,934,322 (GRCm39) W60R probably null Het
Zfp606 A T 7: 12,227,932 (GRCm39) K626N probably damaging Het
Zfp820 A T 17: 22,037,966 (GRCm39) L454Q probably benign Het
Zswim5 A G 4: 116,830,169 (GRCm39) I515V 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
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
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'- CGATGTCATATTTCAACAACATCCC -3'
(R):5'- CACTGGGTTCATGGTCTCTG -3'

Sequencing Primer
(F):5'- CTCACCTGTGCTGGTATT -3'
(R):5'- CACTGGGTTCATGGTCTCTGAAGAG -3'
Posted On 2015-12-29