Mutagenetix > Incidental Mutation

Incidental Mutation 'R9736:Ptprm'

731689

Institutional Source

Beutler Lab

Gene Symbol

Ptprm

Ensembl Gene

ENSMUSG00000033278

Gene Name

protein tyrosine phosphatase receptor type M

Synonyms

RPTPmu

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66973942-67661452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66997562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1178 (Y1178F)

Ref Sequence

ENSEMBL: ENSMUSP00000045603 (fasta)

Gene Model

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

AlphaFold

P28828

Predicted Effect

probably damaging
Transcript: ENSMUST00000037974
AA Change: Y1178F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: Y1178F

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: Y1144F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.2%

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
Adgrf2	A	G	17: 43,022,212 (GRCm39)	I204T	probably benign	Het
Apc	T	A	18: 34,450,823 (GRCm39)	I2573N	probably damaging	Het
Ash1l	A	G	3: 88,891,733 (GRCm39)	D1204G	probably damaging	Het
Atp10a	T	A	7: 58,474,078 (GRCm39)	F1122I	probably damaging	Het
Cage1	A	C	13: 38,207,393 (GRCm39)	S151A	probably damaging	Het
Calhm2	G	A	19: 47,121,597 (GRCm39)	L191F	probably benign	Het
Cd109	C	T	9: 78,619,918 (GRCm39)	P1387S	probably damaging	Het
Cdhr2	T	C	13: 54,872,041 (GRCm39)	L635S	possibly damaging	Het
Cntfr	T	C	4: 41,658,290 (GRCm39)	T357A	unknown	Het
Cpox	A	G	16: 58,494,746 (GRCm39)	N261S	probably benign	Het
Crygb	A	T	1: 65,119,707 (GRCm39)	M91K	probably benign	Het
Ctnnd1	T	C	2: 84,442,430 (GRCm39)	K634R	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dmgdh	T	G	13: 93,843,158 (GRCm39)	F331L	possibly damaging	Het
Dpp10	T	A	1: 123,262,088 (GRCm39)	I765F	possibly damaging	Het
Fat2	T	A	11: 55,194,751 (GRCm39)	D1096V	probably damaging	Het
Fhod1	G	A	8: 106,059,597 (GRCm39)	T696I	probably damaging	Het
Gopc	A	T	10: 52,229,558 (GRCm39)	D220E	possibly damaging	Het
Grin3a	C	A	4: 49,672,472 (GRCm39)		probably null	Het
Gsdma	C	T	11: 98,567,169 (GRCm39)	P423L	probably damaging	Het
Gucy2d	G	A	7: 98,092,683 (GRCm39)	W20*	probably null	Het
Irs2	G	A	8: 11,058,217 (GRCm39)	R72W	probably damaging	Het
Lmo7	A	G	14: 102,157,929 (GRCm39)	I1421V	unknown	Het
Mab21l4	A	G	1: 93,087,661 (GRCm39)	V64A	probably damaging	Het
Micu1	C	T	10: 59,699,123 (GRCm39)	Q467*	probably null	Het
Mycbp2	A	G	14: 103,434,852 (GRCm39)	V2197A	probably damaging	Het
Myh2	T	C	11: 67,063,999 (GRCm39)	S20P	probably benign	Het
Nwd2	A	G	5: 63,951,600 (GRCm39)	I210M	probably damaging	Het
Or4k45	A	T	2: 111,395,626 (GRCm39)	H54Q	probably benign	Het
Or5al5	T	A	2: 85,961,640 (GRCm39)	R122S	probably damaging	Het
Or5an1c	A	T	19: 12,218,920 (GRCm39)	I35N	probably damaging	Het
Pon3	A	G	6: 5,232,339 (GRCm39)	V227A	probably benign	Het
Psme4	T	A	11: 30,797,411 (GRCm39)	I1309K	probably damaging	Het
Qser1	A	G	2: 104,619,988 (GRCm39)	S185P	probably benign	Het
Wdr37	C	A	13: 8,911,136 (GRCm39)	M42I	probably benign	Het
Wwp1	T	A	4: 19,631,202 (GRCm39)	E610D	probably damaging	Het
Zbbx	A	G	3: 74,968,741 (GRCm39)	F572L	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- GAGGGAAAGCCATAGCCTTC -3'
(R):5'- ACCCGCTGTAATTGGTCTG -3'

Sequencing Primer
(F):5'- AGCCATAGCCTTCCAATCTC -3'
(R):5'- GGGATATTCTTGATAAAGCTGGAC -3'

Posted On

2022-11-14