Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02053:Ptprm'

185153

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprm

Ensembl Gene

ENSMUSG00000033278

Gene Name

protein tyrosine phosphatase receptor type M

Synonyms

RPTPmu

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02053

Quality Score

Status

Chromosome

Chromosomal Location

66973942-67661452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67000836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1073 (L1073P)

Ref Sequence

ENSEMBL: ENSMUSP00000153662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037974] [ENSMUST00000223982]

AlphaFold

P28828

Predicted Effect

probably damaging
Transcript: ENSMUST00000037974
AA Change: L1107P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: L1107P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
MAM	22	184	2.81e-73	SMART
IG	191	279	2.1e-6	SMART
FN3	281	364	6.35e-4	SMART
FN3	380	468	2.81e-5	SMART
FN3	482	572	3.7e-5	SMART
transmembrane domain	743	764	N/A	INTRINSIC
low complexity region	765	774	N/A	INTRINSIC
PTPc	899	1156	5.26e-135	SMART
PTPc	1185	1450	9.46e-96	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000223982
AA Change: L1073P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225074

Coding Region Coverage

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 two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	C	17: 43,761,058 (GRCm39)	S918P	possibly damaging	Het
AY358078	G	T	14: 52,043,009 (GRCm39)	E232D	unknown	Het
Baz1b	C	A	5: 135,271,320 (GRCm39)	P1301Q	probably benign	Het
Btn2a2	T	C	13: 23,662,990 (GRCm39)	D311G	probably damaging	Het
Cept1	A	T	3: 106,440,712 (GRCm39)	L149Q	probably damaging	Het
Clec2m	T	C	6: 129,303,725 (GRCm39)	Q80R	probably benign	Het
Col6a4	T	A	9: 105,940,294 (GRCm39)	D1212V	possibly damaging	Het
Cyp2j8	T	C	4: 96,358,891 (GRCm39)	I343V	probably damaging	Het
Dapk2	A	G	9: 66,128,027 (GRCm39)	I102V	probably benign	Het
Dntt	A	G	19: 41,034,713 (GRCm39)	T321A	probably benign	Het
Entrep2	C	T	7: 64,469,590 (GRCm39)	G53R	probably damaging	Het
Ezh1	T	C	11: 101,090,769 (GRCm39)		probably benign	Het
Fbxw5	T	C	2: 25,393,453 (GRCm39)	V18A	probably damaging	Het
Fgd5	T	A	6: 92,030,225 (GRCm39)	C1109S	probably benign	Het
Ms4a6c	A	G	19: 11,455,586 (GRCm39)	I132V	probably benign	Het
Ncoa3	T	C	2: 165,896,754 (GRCm39)	L515P	probably damaging	Het
Nfic	A	G	10: 81,256,385 (GRCm39)	V115A	probably damaging	Het
P4ha2	A	G	11: 54,008,413 (GRCm39)	T207A	probably benign	Het
Pde10a	G	T	17: 9,193,601 (GRCm39)	V732L	probably damaging	Het
Pfas	A	T	11: 68,883,779 (GRCm39)	L626Q	probably damaging	Het
Plekha6	A	G	1: 133,200,230 (GRCm39)	N270D	probably damaging	Het
Prdm10	T	C	9: 31,272,144 (GRCm39)	S977P	probably benign	Het
Rai14	A	C	15: 10,633,242 (GRCm39)	H49Q	probably benign	Het
Ros1	T	A	10: 52,038,816 (GRCm39)	I394F	probably damaging	Het
Sec14l1	C	T	11: 117,047,738 (GRCm39)		probably benign	Het
Sema5a	A	G	15: 32,550,413 (GRCm39)	I151V	probably benign	Het
Tet2	T	A	3: 133,194,284 (GRCm39)	N50I	possibly damaging	Het
Tubal3	A	C	13: 3,983,159 (GRCm39)	D313A	probably damaging	Het
Usp45	A	G	4: 21,824,553 (GRCm39)	N483S	probably benign	Het

Other mutations in Ptprm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Ptprm	APN	17	67,124,967 (GRCm39)	missense	probably damaging	1.00
IGL01128:Ptprm	APN	17	67,349,096 (GRCm39)	missense	probably damaging	1.00
IGL01509:Ptprm	APN	17	67,069,208 (GRCm39)	missense	possibly damaging	0.95
IGL01785:Ptprm	APN	17	66,992,618 (GRCm39)	missense	probably damaging	1.00
IGL01912:Ptprm	APN	17	67,353,113 (GRCm39)	missense	probably benign	0.13
IGL01929:Ptprm	APN	17	66,997,544 (GRCm39)	missense	probably damaging	1.00
IGL01937:Ptprm	APN	17	67,353,158 (GRCm39)	splice site	probably benign
IGL01939:Ptprm	APN	17	67,370,158 (GRCm39)	splice site	probably benign
IGL02203:Ptprm	APN	17	67,260,118 (GRCm39)	missense	probably damaging	1.00
IGL02468:Ptprm	APN	17	67,121,504 (GRCm39)	missense	probably benign	0.02
IGL02500:Ptprm	APN	17	67,227,043 (GRCm39)	missense	probably damaging	0.99
IGL02542:Ptprm	APN	17	67,227,145 (GRCm39)	missense	probably benign
Becalming	UTSW	17	67,251,327 (GRCm39)	splice site	probably null
Pacifying	UTSW	17	66,990,403 (GRCm39)	missense	possibly damaging	0.74
R0674:Ptprm	UTSW	17	67,498,336 (GRCm39)	missense	possibly damaging	0.52
R0709:Ptprm	UTSW	17	67,251,327 (GRCm39)	splice site	probably null
R1054:Ptprm	UTSW	17	67,349,313 (GRCm39)	missense	probably damaging	1.00
R1522:Ptprm	UTSW	17	67,000,866 (GRCm39)	missense	possibly damaging	0.91
R1561:Ptprm	UTSW	17	67,247,536 (GRCm39)	missense	probably damaging	1.00
R1726:Ptprm	UTSW	17	67,349,322 (GRCm39)	missense	probably damaging	1.00
R1744:Ptprm	UTSW	17	66,996,361 (GRCm39)	missense	probably damaging	1.00
R1873:Ptprm	UTSW	17	66,995,350 (GRCm39)	missense	probably damaging	1.00
R1951:Ptprm	UTSW	17	67,247,575 (GRCm39)	missense	probably benign	0.07
R1952:Ptprm	UTSW	17	67,247,575 (GRCm39)	missense	probably benign	0.07
R1953:Ptprm	UTSW	17	67,247,575 (GRCm39)	missense	probably benign	0.07
R1993:Ptprm	UTSW	17	67,054,155 (GRCm39)	missense	probably damaging	1.00
R2017:Ptprm	UTSW	17	67,264,148 (GRCm39)	splice site	probably null
R2266:Ptprm	UTSW	17	67,032,846 (GRCm39)	splice site	probably null
R2417:Ptprm	UTSW	17	67,251,321 (GRCm39)	missense	probably damaging	0.97
R2511:Ptprm	UTSW	17	67,000,773 (GRCm39)	missense	probably damaging	1.00
R3726:Ptprm	UTSW	17	67,263,855 (GRCm39)	missense	possibly damaging	0.91
R3824:Ptprm	UTSW	17	67,116,570 (GRCm39)	missense	probably benign	0.40
R4057:Ptprm	UTSW	17	67,382,658 (GRCm39)	missense	possibly damaging	0.93
R4113:Ptprm	UTSW	17	67,032,808 (GRCm39)	missense	probably damaging	1.00
R4559:Ptprm	UTSW	17	66,990,403 (GRCm39)	missense	possibly damaging	0.74
R4598:Ptprm	UTSW	17	67,402,492 (GRCm39)	missense	probably benign	0.00
R4742:Ptprm	UTSW	17	67,051,746 (GRCm39)	nonsense	probably null
R4974:Ptprm	UTSW	17	66,985,062 (GRCm39)	missense	probably benign	0.01
R5157:Ptprm	UTSW	17	67,264,092 (GRCm39)	missense	probably benign	0.09
R5433:Ptprm	UTSW	17	67,000,468 (GRCm39)	missense	probably damaging	1.00
R5509:Ptprm	UTSW	17	66,996,353 (GRCm39)	missense	probably damaging	1.00
R5586:Ptprm	UTSW	17	67,227,191 (GRCm39)	missense	probably damaging	1.00
R5820:Ptprm	UTSW	17	66,996,460 (GRCm39)	missense	probably damaging	1.00
R5867:Ptprm	UTSW	17	67,352,976 (GRCm39)	splice site	probably null
R6044:Ptprm	UTSW	17	67,000,857 (GRCm39)	missense	probably damaging	1.00
R6229:Ptprm	UTSW	17	66,995,295 (GRCm39)	missense	probably damaging	1.00
R6615:Ptprm	UTSW	17	67,660,951 (GRCm39)	critical splice donor site	probably null
R6969:Ptprm	UTSW	17	67,219,413 (GRCm39)	missense	possibly damaging	0.63
R7135:Ptprm	UTSW	17	67,251,283 (GRCm39)	missense	possibly damaging	0.93
R7161:Ptprm	UTSW	17	67,116,622 (GRCm39)	missense	probably benign	0.21
R7410:Ptprm	UTSW	17	67,000,561 (GRCm39)	missense	probably damaging	0.99
R7476:Ptprm	UTSW	17	67,032,786 (GRCm39)	missense	probably benign	0.01
R7789:Ptprm	UTSW	17	67,402,534 (GRCm39)	missense	probably damaging	1.00
R8027:Ptprm	UTSW	17	67,251,200 (GRCm39)	missense	probably damaging	1.00
R8089:Ptprm	UTSW	17	66,990,483 (GRCm39)	missense	possibly damaging	0.63
R8442:Ptprm	UTSW	17	67,251,312 (GRCm39)	missense	possibly damaging	0.70
R8476:Ptprm	UTSW	17	67,251,317 (GRCm39)	missense	probably damaging	1.00
R8866:Ptprm	UTSW	17	67,116,630 (GRCm39)	missense	probably benign	0.00
R8907:Ptprm	UTSW	17	67,051,732 (GRCm39)	missense	probably damaging	0.99
R8930:Ptprm	UTSW	17	67,263,846 (GRCm39)	missense	probably benign	0.03
R8932:Ptprm	UTSW	17	67,263,846 (GRCm39)	missense	probably benign	0.03
R9009:Ptprm	UTSW	17	66,996,354 (GRCm39)	missense	probably damaging	1.00
R9084:Ptprm	UTSW	17	67,263,948 (GRCm39)	missense	possibly damaging	0.93
R9338:Ptprm	UTSW	17	67,069,143 (GRCm39)	missense	probably damaging	1.00
R9514:Ptprm	UTSW	17	67,116,466 (GRCm39)	missense	probably damaging	1.00
R9610:Ptprm	UTSW	17	67,000,483 (GRCm39)	missense	probably damaging	1.00
R9611:Ptprm	UTSW	17	67,000,483 (GRCm39)	missense	probably damaging	1.00
R9620:Ptprm	UTSW	17	67,116,484 (GRCm39)	missense	probably damaging	1.00
R9663:Ptprm	UTSW	17	67,498,291 (GRCm39)	missense	probably benign	0.34
R9694:Ptprm	UTSW	17	67,116,484 (GRCm39)	missense	probably damaging	1.00
R9736:Ptprm	UTSW	17	66,997,562 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07