Incidental Mutation 'R2082:Ptprh'
ID 230070
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 040087-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2082 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4553774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 859 (D859G)
Ref Sequence ENSEMBL: ENSMUSP00000145543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000065957] [ENSMUST00000166650] [ENSMUST00000206023] [ENSMUST00000206933] [ENSMUST00000206999]
AlphaFold E9Q0N2
Predicted Effect probably damaging
Transcript: ENSMUST00000049113
AA Change: D859G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: D859G

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 damaging
Transcript: ENSMUST00000166650
AA Change: D859G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: D859G

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 benign
Transcript: ENSMUST00000206023
Predicted Effect probably benign
Transcript: ENSMUST00000206933
Predicted Effect probably damaging
Transcript: ENSMUST00000206999
AA Change: D859G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,686,391 (GRCm39) probably null Het
4933427I04Rik A G 4: 123,754,769 (GRCm39) I228V probably benign Het
Aco2 T C 15: 81,797,896 (GRCm39) W657R possibly damaging Het
Acsm2 T A 7: 119,179,857 (GRCm39) H333Q probably benign Het
Adamts18 C T 8: 114,501,965 (GRCm39) V299I probably damaging Het
Adat2 G A 10: 13,435,907 (GRCm39) C84Y probably damaging Het
Arhgef11 C T 3: 87,633,303 (GRCm39) T690I possibly damaging Het
Cachd1 A G 4: 100,860,155 (GRCm39) D1242G probably damaging Het
Casp14 A G 10: 78,550,867 (GRCm39) M106T probably benign Het
Ccdc69 T A 11: 54,943,215 (GRCm39) I130F probably damaging Het
Cdk9 A G 2: 32,599,513 (GRCm39) L189P probably damaging Het
Cfhr1 C T 1: 139,478,624 (GRCm39) V249I possibly damaging Het
Chst1 T C 2: 92,444,335 (GRCm39) V269A possibly damaging Het
Col18a1 G T 10: 76,895,127 (GRCm39) P1178Q probably damaging Het
Col6a1 A G 10: 76,545,430 (GRCm39) L1014P probably damaging Het
Crisp3 T C 17: 40,536,751 (GRCm39) Y188C probably damaging Het
Dse G A 10: 34,031,936 (GRCm39) R363C probably damaging Het
Exoc5 T C 14: 49,253,044 (GRCm39) I525V probably benign Het
Fech A T 18: 64,591,260 (GRCm39) I388N probably damaging Het
Fmnl1 T C 11: 103,082,851 (GRCm39) L363P probably damaging Het
Gm10842 T A 11: 105,037,909 (GRCm39) L64Q unknown Het
Gm8225 C A 17: 26,762,670 (GRCm39) P287Q possibly damaging Het
Hsp90aa1 A T 12: 110,659,261 (GRCm39) L512H probably damaging Het
Ifi30 T C 8: 71,216,373 (GRCm39) probably benign Het
Iqsec1 A T 6: 90,671,556 (GRCm39) D115E probably damaging Het
Kcnu1 T A 8: 26,411,577 (GRCm39) L174H probably damaging Het
Krt10 A G 11: 99,279,701 (GRCm39) V153A probably damaging Het
Krt18 G A 15: 101,939,455 (GRCm39) probably null Het
Micu1 A G 10: 59,699,129 (GRCm39) T469A probably benign Het
Mtss2 T C 8: 111,452,889 (GRCm39) probably null Het
Myo10 T A 15: 25,786,079 (GRCm39) F1253L probably damaging Het
N4bp2 A T 5: 65,964,908 (GRCm39) T986S probably damaging Het
Naip6 C A 13: 100,440,852 (GRCm39) probably null Het
Nphp4 G A 4: 152,643,821 (GRCm39) V1117M probably benign Het
Oca2 C A 7: 55,946,885 (GRCm39) Q305K probably benign Het
Or56b34 C T 7: 104,937,710 (GRCm39) Q137* probably null Het
Or5k3 T A 16: 58,969,248 (GRCm39) F12I probably damaging Het
Or7g27 G A 9: 19,250,574 (GRCm39) V273I probably benign Het
P2rx7 A T 5: 122,782,158 (GRCm39) N8Y possibly damaging Het
Pag1 A T 3: 9,764,545 (GRCm39) S203T probably damaging Het
Pfn4 T A 12: 4,825,439 (GRCm39) probably null Het
Pip4k2c T C 10: 127,034,958 (GRCm39) D414G probably damaging Het
Pkp1 T G 1: 135,812,714 (GRCm39) Q329P possibly damaging Het
Polrmt A T 10: 79,579,346 (GRCm39) I135N probably benign Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Ppp3cb T C 14: 20,558,746 (GRCm39) T439A possibly damaging Het
Prkdc A G 16: 15,533,827 (GRCm39) Y1555C probably damaging Het
Sema5a T A 15: 32,619,002 (GRCm39) M510K probably benign Het
Slc22a16 A G 10: 40,461,335 (GRCm39) E379G probably benign Het
Slc30a5 C A 13: 100,943,041 (GRCm39) probably null Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tbc1d9 A T 8: 83,997,616 (GRCm39) S1058C probably damaging Het
Tet2 A G 3: 133,191,488 (GRCm39) L982P possibly damaging Het
Tmem101 G T 11: 102,044,203 (GRCm39) T228K probably benign Het
Tshz2 G T 2: 169,728,135 (GRCm39) K441N probably damaging Het
Upf1 A T 8: 70,794,222 (GRCm39) I228N probably damaging Het
Usp32 A T 11: 84,921,338 (GRCm39) I692N probably damaging Het
Vmn2r117 A G 17: 23,679,230 (GRCm39) S665P possibly damaging Het
Vps13b T C 15: 35,910,892 (GRCm39) V3552A possibly damaging Het
Vps35 A T 8: 85,990,094 (GRCm39) M638K possibly damaging Het
Vps41 T G 13: 19,036,521 (GRCm39) I645S probably benign Het
Zfp703 T C 8: 27,469,016 (GRCm39) S227P 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
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
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'- AAACAAATCGGTTCTGGGGTTTTG -3'
(R):5'- TGCGTGTCCCAGAGAATTCC -3'

Sequencing Primer
(F):5'- TGTCCTGGAACTCAGTCTGAAGAC -3'
(R):5'- GTGTCCCAGAGAATTCCCTATTAGG -3'
Posted On 2014-09-18