Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Ptprh'

192610

Institutional Source

Beutler Lab

Gene Symbol

Ptprh

Ensembl Gene

ENSMUSG00000035429

Gene Name

protein tyrosine phosphatase receptor type H

Synonyms

SAP-1

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

4551611-4607040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4576361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 300 (T300S)

Ref Sequence

ENSEMBL: ENSMUSP00000145543 (fasta)

Gene Model

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

AlphaFold

E9Q0N2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049113
AA Change: T300S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: T300S

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

possibly damaging
Transcript: ENSMUST00000166650
AA Change: T300S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: T300S

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

possibly damaging
Transcript: ENSMUST00000206999
AA Change: T300S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.2374

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (114/115)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Abcb1b	T	A	5: 8,875,661 (GRCm39)	H611Q	probably damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Adgre1	T	A	17: 57,709,841 (GRCm39)	L166*	probably null	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Akna	T	A	4: 63,312,872 (GRCm39)	Q417L	probably damaging	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef10	A	C	8: 15,004,446 (GRCm39)	R360S	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Arid3a	A	G	10: 79,766,899 (GRCm39)	T58A	possibly damaging	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap36	A	T	11: 29,196,514 (GRCm39)		probably null	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Chadl	T	C	15: 81,578,213 (GRCm39)	D6G	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Crtc1	A	G	8: 70,844,509 (GRCm39)		probably null	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Dst	A	T	1: 34,314,862 (GRCm39)	N4267Y	probably damaging	Het
Duox2	T	A	2: 122,127,167 (GRCm39)	D170V	possibly damaging	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
Elf1	T	C	14: 79,802,965 (GRCm39)	L106P	probably damaging	Het
Exoc4	G	C	6: 33,273,857 (GRCm39)		probably null	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gga3	C	A	11: 115,477,915 (GRCm39)	G558*	probably null	Het
Glt1d1	T	C	5: 127,740,391 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Hcn4	T	C	9: 58,767,582 (GRCm39)	S1048P	probably damaging	Het
Henmt1	T	A	3: 108,861,105 (GRCm39)		probably benign	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Myh3	C	T	11: 66,990,498 (GRCm39)	R1677C	probably damaging	Het
Mynn	T	A	3: 30,661,230 (GRCm39)	*61K	probably null	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Oas1e	C	A	5: 120,933,395 (GRCm39)	A57S	probably benign	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Or14j10	T	A	17: 37,935,024 (GRCm39)	R167S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pnp2	T	A	14: 51,196,990 (GRCm39)	Y25*	probably null	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Ppp1r12a	A	G	10: 108,089,193 (GRCm39)	N611D	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Prl6a1	A	T	13: 27,501,980 (GRCm39)	I116F	probably damaging	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Satb1	T	A	17: 52,047,374 (GRCm39)	Q647L	probably benign	Het
Sec31b	T	C	19: 44,508,847 (GRCm39)		probably benign	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
Smchd1	T	C	17: 71,738,231 (GRCm39)	I545V	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Tdrd5	A	T	1: 156,129,473 (GRCm39)	I79N	probably damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Tnxb	T	A	17: 34,928,542 (GRCm39)	V2652E	possibly damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Ubtd2	A	C	11: 32,449,223 (GRCm39)		probably null	Het
Ubtd2	G	T	11: 32,449,224 (GRCm39)		probably null	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Vwa8	T	A	14: 79,331,179 (GRCm39)	M1229K	probably benign	Het
Wdr76	C	T	2: 121,349,932 (GRCm39)	R111C	probably damaging	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	Het

Other mutations in Ptprh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CATTCACAACAAAGGGATCAGAGACCAG -3'
(R):5'- TGTCCCCATTTCAGCCCCAAAC -3'

Sequencing Primer
(F):5'- cagagaaccagacacccag -3'
(R):5'- CCCAGTGAGAAACCTGAGG -3'

Posted On

2014-05-15