Mutagenetix > Incidental Mutation

Incidental Mutation 'R8476:Ptprm'

657276

Institutional Source

Beutler Lab

Gene Symbol

Ptprm

Ensembl Gene

ENSMUSG00000033278

Gene Name

protein tyrosine phosphatase receptor type M

Synonyms

RPTPmu

MMRRC Submission

067920-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8476 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66973942-67661452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67251317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 520 (Y520C)

Ref Sequence

ENSEMBL: ENSMUSP00000153463 (fasta)

Gene Model

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

AlphaFold

P28828

Predicted Effect

probably damaging
Transcript: ENSMUST00000037974
AA Change: Y520C

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

SMART Domains

Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: Y520C

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: Y520C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224091
AA Change: Y520C

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

Meta Mutation Damage Score

0.9337

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (34/34)

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
2210408I21Rik	A	T	13: 77,410,020 (GRCm39)	I176F	possibly damaging	Het
Aen	A	G	7: 78,556,947 (GRCm39)	Y123C	probably damaging	Het
Ahnak2	C	T	12: 112,747,100 (GRCm39)		probably benign	Het
Anks1	T	A	17: 28,273,292 (GRCm39)	D970E	probably damaging	Het
Atn1	C	A	6: 124,723,416 (GRCm39)		probably benign	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Ccdc172	T	A	19: 58,541,270 (GRCm39)		probably null	Het
Ceacam11	T	C	7: 17,707,618 (GRCm39)	I134T	probably benign	Het
Clec4e	A	G	6: 123,263,235 (GRCm39)	S73P	probably benign	Het
Dchs1	A	G	7: 105,408,015 (GRCm39)	I1939T	probably benign	Het
Dclk1	A	T	3: 55,441,100 (GRCm39)	E432V	probably damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Kdm3a	T	C	6: 71,588,693 (GRCm39)	K439E	probably damaging	Het
Klhdc7a	A	C	4: 139,693,051 (GRCm39)	I632S	probably damaging	Het
Krt72	A	T	15: 101,686,701 (GRCm39)	M415K	probably damaging	Het
Lax1	T	A	1: 133,611,326 (GRCm39)	H82L	probably benign	Het
Morc2b	T	A	17: 33,354,833 (GRCm39)	T980S	possibly damaging	Het
Mta2	T	A	19: 8,928,352 (GRCm39)	N550K	probably benign	Het
Or51f1	A	T	7: 102,506,152 (GRCm39)	F112L	probably benign	Het
Or6d13	T	A	6: 116,517,507 (GRCm39)	I31N	probably benign	Het
Pask	A	G	1: 93,249,361 (GRCm39)	W680R	probably benign	Het
Pcdhb13	A	T	18: 37,577,137 (GRCm39)	N505I	probably damaging	Het
Pik3cd	A	T	4: 149,736,277 (GRCm39)	M984K	probably damaging	Het
Pum1	A	G	4: 130,480,024 (GRCm39)	S547G	possibly damaging	Het
Rabep2	C	T	7: 126,034,915 (GRCm39)	R64*	probably null	Het
Rfxank	T	C	8: 70,590,828 (GRCm39)	N13S	probably benign	Het
Sall3	G	T	18: 81,015,333 (GRCm39)	S865*	probably null	Het
Scaper	T	A	9: 55,669,575 (GRCm39)	D854V	probably damaging	Het
Slit3	G	A	11: 35,520,596 (GRCm39)	D578N	possibly damaging	Het
Smarcd1	G	T	15: 99,600,305 (GRCm39)	G35W	probably damaging	Het
Trim24	C	T	6: 37,922,578 (GRCm39)	Q462*	probably null	Het
Ube3a	C	T	7: 58,954,575 (GRCm39)	T837I	probably damaging	Het
Vps13a	T	C	19: 16,699,821 (GRCm39)	I740M	possibly 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
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
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'- GCAAGGCATAACTCATCAGTG -3'
(R):5'- ACCTACTGGCTCTAAGTCCC -3'

Sequencing Primer
(F):5'- TGATACCTGATATTTTTGTGGTGAAC -3'
(R):5'- TAAGTCCCTCCCTCTAGAAAGGTTAC -3'

Posted On

2021-01-18