Mutagenetix > Incidental Mutation

Incidental Mutation 'R4057:Ptprm'

314305

Institutional Source

Beutler Lab

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 #

R4057 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66973942-67661452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67382658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 158 (I158S)

Ref Sequence

ENSEMBL: ENSMUSP00000153463 (fasta)

Gene Model

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

AlphaFold

P28828

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037974
AA Change: I158S

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: I158S

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
AA Change: I158S

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224091
AA Change: I158S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.5567

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

95% (36/38)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,270,807 (GRCm39)	I510T	possibly damaging	Het
Asb2	A	G	12: 103,291,653 (GRCm39)	Y377H	probably benign	Het
Cars1	T	C	7: 143,124,385 (GRCm39)	E347G	probably damaging	Het
Cfap91	A	G	16: 38,118,576 (GRCm39)	V741A	probably benign	Het
Cplane1	T	A	15: 8,248,509 (GRCm39)	M1686K	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dst	T	C	1: 34,225,135 (GRCm39)		probably benign	Het
Emcn	C	A	3: 137,085,660 (GRCm39)	T86K	probably damaging	Het
Fcgbp	A	T	7: 27,803,541 (GRCm39)	Q1715L	probably benign	Het
Hmcn2	A	G	2: 31,290,250 (GRCm39)	Y2361C	probably damaging	Het
Hpse2	T	C	19: 43,282,714 (GRCm39)	K180E	probably damaging	Het
Ints2	A	C	11: 86,133,778 (GRCm39)	L424R	probably damaging	Het
Kalrn	A	T	16: 34,134,579 (GRCm39)	I401N	probably damaging	Het
Ltbp1	G	T	17: 75,617,189 (GRCm39)	G725C	probably damaging	Het
Myo3a	T	A	2: 22,270,971 (GRCm39)	M144K	probably benign	Het
Nav3	A	T	10: 109,716,394 (GRCm39)		probably null	Het
Neb	A	T	2: 52,096,711 (GRCm39)	V5000D	possibly damaging	Het
Neb	G	T	2: 52,127,120 (GRCm39)	A3534E	probably benign	Het
Nlrp9a	T	A	7: 26,270,071 (GRCm39)	C833S	probably benign	Het
Npas1	C	A	7: 16,208,712 (GRCm39)	R55L	probably damaging	Het
Or52n20	A	G	7: 104,320,476 (GRCm39)	K189R	probably damaging	Het
P2ry10	T	C	X: 106,146,862 (GRCm39)	C266R	probably damaging	Het
Pcdh1	T	C	18: 38,331,950 (GRCm39)	E351G	probably damaging	Het
Plce1	A	T	19: 38,748,563 (GRCm39)	R1751W	probably damaging	Het
Plekhn1	T	C	4: 156,309,150 (GRCm39)		probably null	Het
Por	A	G	5: 135,760,428 (GRCm39)	Y245C	probably damaging	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,673 (GRCm39)	I385V	probably damaging	Het
Serpina3m	A	C	12: 104,357,996 (GRCm39)		probably benign	Het
Sox5	G	T	6: 144,062,248 (GRCm39)	R135S	probably damaging	Het
Stag2	A	G	X: 41,313,819 (GRCm39)	T228A	probably damaging	Het
Wif1	G	A	10: 120,918,099 (GRCm39)	V156I	probably benign	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	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
IGL01937:Ptprm	APN	17	67,353,158 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CATTTGCACGCAAGCTGTG -3'
(R):5'- ATATTTGGGATCCAGAGCCTG -3'

Sequencing Primer
(F):5'- TGGAACTTCTAGGATCTGGAACCC -3'
(R):5'- CCTGAAACACTCTAGGCAGGTATTAG -3'

Posted On

2015-04-30