Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01937:Ptprm'

180736

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 #

IGL01937

Quality Score

Status

Chromosome

Chromosomal Location

66973942-67661452 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 67353158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037974] [ENSMUST00000223982] [ENSMUST00000224091] [ENSMUST00000224862]

AlphaFold

P28828

Predicted Effect

probably benign
Transcript: ENSMUST00000037974

SMART Domains

Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278

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 benign
Transcript: ENSMUST00000223982

Predicted Effect

probably benign
Transcript: ENSMUST00000224091

Predicted Effect

probably benign
Transcript: ENSMUST00000224862

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	C	11: 109,974,130 (GRCm39)		probably benign	Het
Abcb11	G	T	2: 69,117,956 (GRCm39)	P474H	probably damaging	Het
Actn1	T	C	12: 80,218,537 (GRCm39)	N749S	probably benign	Het
Atf7ip2	T	A	16: 10,059,401 (GRCm39)		probably null	Het
Brinp3	A	T	1: 146,776,878 (GRCm39)	T442S	probably benign	Het
Cdh20	A	G	1: 110,065,826 (GRCm39)	N700S	probably benign	Het
Cntn4	T	A	6: 106,414,865 (GRCm39)	V132E	probably damaging	Het
Dlc1	G	T	8: 37,317,345 (GRCm39)	S443R	probably benign	Het
Evi2b	T	A	11: 79,406,893 (GRCm39)	K227N	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gstm3	T	C	3: 107,874,973 (GRCm39)	E93G	probably damaging	Het
Hemgn	T	C	4: 46,396,057 (GRCm39)	Y393C	probably damaging	Het
Hepacam2	T	A	6: 3,487,117 (GRCm39)	Y4F	probably benign	Het
Hipk1	T	C	3: 103,651,320 (GRCm39)	I1148V	possibly damaging	Het
Katnip	A	G	7: 125,453,777 (GRCm39)	T1165A	probably benign	Het
Kl	A	T	5: 150,912,402 (GRCm39)	D717V	probably damaging	Het
Mmp14	T	C	14: 54,675,053 (GRCm39)		probably benign	Het
Nlrp1b	T	G	11: 71,072,233 (GRCm39)	T537P	probably damaging	Het
Or5k3	T	C	16: 58,969,827 (GRCm39)	S205P	probably benign	Het
Or8k33	A	G	2: 86,383,793 (GRCm39)	V225A	probably benign	Het
Pcnx3	A	G	19: 5,727,691 (GRCm39)	V1031A	probably benign	Het
Plk2	A	G	13: 110,535,588 (GRCm39)	D470G	possibly damaging	Het
Ppa1	G	A	10: 61,501,215 (GRCm39)	V161M	probably benign	Het
Prrc2a	A	C	17: 35,374,567 (GRCm39)	I1361S	possibly damaging	Het
Psmd6	A	T	14: 14,116,169 (GRCm38)	S140T	probably benign	Het
Ranbp17	T	C	11: 33,278,520 (GRCm39)	T116A	possibly damaging	Het
Reps1	A	G	10: 17,969,584 (GRCm39)	N229S	probably benign	Het
Rfx3	A	T	19: 27,808,129 (GRCm39)	Y205N	probably damaging	Het
Robo1	A	T	16: 72,759,114 (GRCm39)	I376F	probably damaging	Het
Ryr2	T	A	13: 11,805,249 (GRCm39)	I872F	probably damaging	Het
Selenop	C	T	15: 3,308,750 (GRCm39)	T234M	probably benign	Het
Sgip1	T	C	4: 102,823,439 (GRCm39)	Y707H	probably damaging	Het
Strap	A	G	6: 137,718,333 (GRCm39)	I146V	probably benign	Het
Tcim	A	T	8: 24,928,892 (GRCm39)	H7Q	probably benign	Het
Thada	G	T	17: 84,530,194 (GRCm39)	T1725N	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r84	A	G	10: 130,221,755 (GRCm39)	C822R	probably damaging	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
IGL01939:Ptprm	APN	17	67,370,158 (GRCm39)	splice site	probably benign
IGL02053:Ptprm	APN	17	67,000,836 (GRCm39)	missense	probably damaging	1.00
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