Incidental Mutation 'R1537:Ptprh'
ID 169593
Institutional Source Beutler Lab
Gene Symbol Ptprh
Ensembl Gene ENSMUSG00000035429
Gene Name protein tyrosine phosphatase receptor type H
Synonyms SAP-1
MMRRC Submission 039576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1537 (G1)
Quality Score 181
Status Not validated
Chromosome 7
Chromosomal Location 4551611-4607040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4552698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 884 (L884P)
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: L884P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: L884P

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: L884P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: L884P

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: L884P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,124 (GRCm39) H86L possibly damaging Het
4930519G04Rik A G 5: 115,008,278 (GRCm39) T31A probably benign Het
Ahcyl1 A G 3: 107,603,505 (GRCm39) F30S probably benign Het
Alox5ap G A 5: 149,201,993 (GRCm39) probably null Het
Amtn A G 5: 88,526,729 (GRCm39) S53G probably null Het
Arap3 A T 18: 38,122,737 (GRCm39) probably null Het
Ash1l T A 3: 88,979,783 (GRCm39) V2769E probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bhlha9 C T 11: 76,563,457 (GRCm39) S28L probably benign Het
Bltp2 T A 11: 78,180,169 (GRCm39) Y2150N probably damaging Het
Bmpr2 A G 1: 59,907,285 (GRCm39) T793A probably benign Het
Ccdc80 G A 16: 44,916,299 (GRCm39) A352T probably benign Het
Chst2 A T 9: 95,288,194 (GRCm39) F51I probably benign Het
Col14a1 A G 15: 55,244,163 (GRCm39) N412S unknown Het
Dclk2 T C 3: 86,713,491 (GRCm39) I451V probably damaging Het
Ddb2 A G 2: 91,065,234 (GRCm39) S64P probably benign Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dnai3 T C 3: 145,748,504 (GRCm39) E870G probably damaging Het
Dusp4 G T 8: 35,285,570 (GRCm39) R277L probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Garem1 A T 18: 21,301,931 (GRCm39) probably null Het
Gnpat A G 8: 125,597,555 (GRCm39) E39G probably damaging Het
Golgb1 A T 16: 36,719,150 (GRCm39) Q352L possibly damaging Het
Hdlbp T C 1: 93,345,096 (GRCm39) D803G probably benign Het
Hps1 A G 19: 42,748,143 (GRCm39) probably null Het
Ilvbl G A 10: 78,415,565 (GRCm39) R327H probably benign Het
Itpr3 A G 17: 27,333,121 (GRCm39) D1911G possibly damaging Het
Lmo7 T A 14: 102,166,700 (GRCm39) probably benign Het
Mcm10 G A 2: 5,003,591 (GRCm39) T542I possibly damaging Het
Med1 A G 11: 98,051,772 (GRCm39) V497A probably damaging Het
Mn1 G A 5: 111,602,646 (GRCm39) A1295T probably damaging Het
Myh7b A C 2: 155,473,707 (GRCm39) D1580A probably damaging Het
Naa20 A G 2: 145,754,438 (GRCm39) I101V probably benign Het
Nav3 T C 10: 109,702,846 (GRCm39) Y229C probably damaging Het
Obscn T C 11: 58,891,575 (GRCm39) R6986G unknown Het
Or51h7 G A 7: 102,591,547 (GRCm39) T79I probably damaging Het
Or8b4 A G 9: 37,830,570 (GRCm39) I211V probably benign Het
P2rx3 A G 2: 84,853,825 (GRCm39) probably null Het
Pcdhac2 G A 18: 37,279,539 (GRCm39) G840R possibly damaging Het
Pclo A G 5: 14,762,489 (GRCm39) N3654S unknown Het
Pcnx2 T A 8: 126,604,188 (GRCm39) E689D possibly damaging Het
Pds5a A G 5: 65,804,464 (GRCm39) S532P probably benign Het
Phf1 G A 17: 27,154,372 (GRCm39) probably null Het
Pkp4 G A 2: 59,045,147 (GRCm39) V41M probably damaging Het
Prlr T G 15: 10,328,364 (GRCm39) probably null Het
Prr12 G T 7: 44,678,366 (GRCm39) A1954D unknown Het
Prtg A G 9: 72,717,039 (GRCm39) T127A probably benign Het
Rnf170 T A 8: 26,629,076 (GRCm39) D183E probably benign Het
Rrp12 A T 19: 41,875,242 (GRCm39) H339Q probably damaging Het
Rubcnl T G 14: 75,278,267 (GRCm39) S350R possibly damaging Het
Sgo2b T A 8: 64,379,536 (GRCm39) T1099S possibly damaging Het
Ska2 T C 11: 87,006,945 (GRCm39) S17P probably damaging Het
Slc38a2 A G 15: 96,591,034 (GRCm39) I243T possibly damaging Het
Sptan1 T A 2: 29,916,034 (GRCm39) D2007E possibly damaging Het
Taar5 T A 10: 23,846,620 (GRCm39) L6H probably benign Het
Tbata G T 10: 61,019,270 (GRCm39) probably null Het
Tent2 C T 13: 93,312,076 (GRCm39) G208D probably damaging Het
Tmem107 T C 11: 68,963,284 (GRCm39) S98P probably damaging Het
Tpst2 A G 5: 112,456,286 (GRCm39) D275G possibly damaging Het
Ttc28 G T 5: 111,433,184 (GRCm39) G2073W probably damaging Het
Ttc7 T C 17: 87,629,891 (GRCm39) V291A possibly damaging Het
Vps13b T A 15: 35,792,327 (GRCm39) N2198K possibly damaging Het
Wdr37 A T 13: 8,887,039 (GRCm39) D249E probably benign Het
Xirp2 G T 2: 67,340,357 (GRCm39) C866F probably damaging Het
Zfp990 A G 4: 145,263,566 (GRCm39) E188G possibly damaging Het
Zkscan2 A G 7: 123,099,064 (GRCm39) S43P possibly damaging Het
Zscan5b A G 7: 6,236,850 (GRCm39) R200G 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
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
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'- AATGAGGGATGCTTCCTGAAGGGC -3'
(R):5'- TCCCCAAACCTGGAGCAAACTGTG -3'

Sequencing Primer
(F):5'- CCCTCAACCCCCACCAC -3'
(R):5'- gttttttgagacaaggtttctctg -3'
Posted On 2014-04-13