Mutagenetix > Incidental Mutations

Incidental Mutation 'R7436:Ptprh'

580554

Institutional Source

Beutler Lab

Gene Symbol

Ptprh

Ensembl Gene

ENSMUSG00000035429

Gene Name

protein tyrosine phosphatase, receptor type, H

Synonyms

SAP-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4548612-4604041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4552743 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 739 (E739G)

Ref Sequence

ENSEMBL: ENSMUSP00000042396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049113] [ENSMUST00000166650] [ENSMUST00000206999]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049113
AA Change: E739G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: E739G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000166650
AA Change: E739G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: E739G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000206999
AA Change: E739G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.2951

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,983,221		probably null	Het
2310034C09Rik	A	G	16: 88,759,354	Y152C	probably benign	Het
4921530L21Rik	A	T	14: 95,882,591	K261N	probably benign	Het
5830411N06Rik	A	T	7: 140,261,607	T275S	probably benign	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Akap1	A	G	11: 88,845,528	S103P	probably damaging	Het
Ampd1	T	A	3: 103,074,119		probably null	Het
Apoa1	T	A	9: 46,229,802		probably null	Het
Asb16	A	G	11: 102,272,655	D157G	possibly damaging	Het
Bank1	T	C	3: 136,055,800	N748D	possibly damaging	Het
BC034090	C	A	1: 155,226,381	G46W	probably damaging	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954		probably benign	Het
Ccdc73	T	A	2: 104,951,869	V190E	probably damaging	Het
Cyb561a3	A	G	19: 10,582,332	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 27,158,243	D427V	probably damaging	Het
Cyp4f14	T	C	17: 32,909,157	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,257,102	T510A	probably benign	Het
Dennd6a	G	T	14: 26,579,710	E26*	probably null	Het
Dusp10	T	C	1: 184,069,221	I395T	probably damaging	Het
Dzip3	T	A	16: 48,951,989	H439L	probably damaging	Het
Heatr5b	T	A	17: 78,768,533	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,711,796	F278L	probably benign	Het
Hspg2	T	A	4: 137,515,664	M702K	probably damaging	Het
Hydin	T	C	8: 110,583,914	F4081L	probably damaging	Het
Ido1	T	G	8: 24,586,916	T209P	probably benign	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ipo8	T	C	6: 148,789,805	Y689C	probably benign	Het
Macf1	C	T	4: 123,456,643	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,941,554	T1014A	probably benign	Het
Nek5	A	G	8: 22,108,040	F200L	probably damaging	Het
Nipal1	A	G	5: 72,667,641	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159	N80I	probably damaging	Het
Nmur1	G	A	1: 86,386,378	P389S	probably benign	Het
Olfr1037	T	C	2: 86,084,907	Y290C	probably damaging	Het
Olfr59	T	C	11: 74,288,685	L13P	possibly damaging	Het
Olfr975	G	T	9: 39,950,053	C239*	probably null	Het
Patl2	A	C	2: 122,127,525	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,309,275	V546A	probably damaging	Het
Phf20l1	G	T	15: 66,597,750	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,339,729	N35S	probably benign	Het
Pigw	A	T	11: 84,877,963	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,200,701	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,486,796	F436L	probably damaging	Het
Plch2	T	C	4: 154,984,096	T1358A	probably benign	Het
Poll	C	T	19: 45,553,057	V491M	probably damaging	Het
Polr1e	A	G	4: 45,024,553		probably null	Het
Ppp1r35	G	A	5: 137,780,017	W258*	probably null	Het
Ptpdc1	A	T	13: 48,586,666	F430I	probably benign	Het
Ramp2	T	C	11: 101,247,939	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,610,921		probably null	Het
Rbm5	A	G	9: 107,750,394		probably null	Het
Rnf39	A	T	17: 36,943,349	S88C	probably benign	Het
Rpl12	A	G	2: 32,963,824	I155V	probably benign	Het
Senp5	C	T	16: 31,976,029	E596K	unknown	Het
Serpinb9d	A	G	13: 33,195,933	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,416,316	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,226,484		probably null	Het
Spatc1	A	T	15: 76,268,368	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,368,229		probably benign	Het
Traf3ip1	A	G	1: 91,511,388	D342G	probably benign	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2j2	T	C	4: 155,957,331	V249A	probably damaging	Het
Utrn	A	C	10: 12,439,791	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,360,877	M168L	probably benign	Het
Vmn1r77	T	A	7: 12,041,767	S157T	probably benign	Het
Zfp977	A	G	7: 42,580,460	S214P	probably benign	Het
Zscan10	T	C	17: 23,610,005	L507P	possibly damaging	Het

Other mutations in Ptprh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01766:Ptprh	APN	7	4580916	missense	probably benign	0.23
IGL02420:Ptprh	APN	7	4580930	missense	probably damaging	1.00
IGL02619:Ptprh	APN	7	4549499	missense	probably damaging	1.00
IGL02729:Ptprh	APN	7	4580874	missense	probably damaging	0.99
BB008:Ptprh	UTSW	7	4571988	missense	probably benign	0.03
BB018:Ptprh	UTSW	7	4571988	missense	probably benign	0.03
R0018:Ptprh	UTSW	7	4601846	critical splice donor site	probably null
R0049:Ptprh	UTSW	7	4573362	missense	possibly damaging	0.80
R0449:Ptprh	UTSW	7	4598006	missense	probably damaging	1.00
R0477:Ptprh	UTSW	7	4597998	missense	possibly damaging	0.87
R0626:Ptprh	UTSW	7	4564272	missense	probably benign	0.00
R0741:Ptprh	UTSW	7	4554173	critical splice donor site	probably null
R1068:Ptprh	UTSW	7	4549463	missense	possibly damaging	0.89
R1226:Ptprh	UTSW	7	4603092	nonsense	probably null
R1487:Ptprh	UTSW	7	4552738	missense	probably damaging	1.00
R1495:Ptprh	UTSW	7	4580889	missense	probably benign	0.02
R1537:Ptprh	UTSW	7	4549699	missense	probably damaging	1.00
R1601:Ptprh	UTSW	7	4552638	missense	probably damaging	1.00
R1731:Ptprh	UTSW	7	4601913	missense	probably benign	0.00
R1920:Ptprh	UTSW	7	4549395	missense	probably benign	0.25
R2082:Ptprh	UTSW	7	4550775	missense	probably damaging	1.00
R2180:Ptprh	UTSW	7	4601868	missense	probably benign	0.26
R2214:Ptprh	UTSW	7	4552922	missense	possibly damaging	0.78
R2245:Ptprh	UTSW	7	4573346	missense	probably benign	0.09
R2271:Ptprh	UTSW	7	4603133	start gained	probably benign
R3693:Ptprh	UTSW	7	4554235	missense	probably damaging	0.99
R3713:Ptprh	UTSW	7	4571970	missense	probably damaging	1.00
R4081:Ptprh	UTSW	7	4580988	missense	probably damaging	0.99
R4205:Ptprh	UTSW	7	4597992	missense	probably damaging	1.00
R4689:Ptprh	UTSW	7	4597997	missense	possibly damaging	0.74
R4782:Ptprh	UTSW	7	4569577	missense	probably benign	0.08
R4838:Ptprh	UTSW	7	4573430	missense	possibly damaging	0.78
R4974:Ptprh	UTSW	7	4551007	splice site	probably null
R5218:Ptprh	UTSW	7	4597920	missense	probably benign	0.05
R5430:Ptprh	UTSW	7	4551047	missense	probably damaging	1.00
R5533:Ptprh	UTSW	7	4549505	missense	probably damaging	1.00
R5544:Ptprh	UTSW	7	4580910	nonsense	probably null
R5547:Ptprh	UTSW	7	4554222	nonsense	probably null
R5869:Ptprh	UTSW	7	4601940	missense	probably benign	0.00
R5928:Ptprh	UTSW	7	4573508	missense	probably damaging	1.00
R6063:Ptprh	UTSW	7	4573362	missense	possibly damaging	0.80
R6112:Ptprh	UTSW	7	4597923	missense	probably benign	0.01
R6493:Ptprh	UTSW	7	4580990	missense	possibly damaging	0.65
R6733:Ptprh	UTSW	7	4603044	splice site	probably null
R6836:Ptprh	UTSW	7	4551135	missense	probably damaging	1.00
R6859:Ptprh	UTSW	7	4549371	nonsense	probably null
R6868:Ptprh	UTSW	7	4601865	missense	probably benign
R7015:Ptprh	UTSW	7	4552627	critical splice donor site	probably null
R7092:Ptprh	UTSW	7	4580861	critical splice donor site	probably null
R7147:Ptprh	UTSW	7	4550782	missense	probably damaging	1.00
R7177:Ptprh	UTSW	7	4569481	missense	possibly damaging	0.77
R7358:Ptprh	UTSW	7	4551007	splice site	probably null
R7512:Ptprh	UTSW	7	4571781	missense	possibly damaging	0.60
R7863:Ptprh	UTSW	7	4603098	start codon destroyed	probably benign	0.31
R7931:Ptprh	UTSW	7	4571988	missense	probably benign	0.03
R7973:Ptprh	UTSW	7	4580888	missense	possibly damaging	0.55
R8239:Ptprh	UTSW	7	4581091	missense	probably damaging	1.00
R8331:Ptprh	UTSW	7	4549481	missense	probably damaging	1.00
RF022:Ptprh	UTSW	7	4549368	missense	probably benign
Z1177:Ptprh	UTSW	7	4597971	missense	probably damaging	0.99
Z1177:Ptprh	UTSW	7	4598118	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCCAGTTAGTGTCTGAGTTG -3'
(R):5'- TTCTTAGATGACTGGTCCCGG -3'

Sequencing Primer
(F):5'- CTGAGTTGGGCTGGCCAAG -3'
(R):5'- ATGACTGGTCCCGGGTTCC -3'

Posted On

2019-10-07