Mutagenetix > Incidental Mutations

Incidental Mutation 'R4546:Pear1'

377766

Institutional Source

Beutler Lab

Gene Symbol

Pear1

Ensembl Gene

ENSMUSG00000028073

Gene Name

platelet endothelial aggregation receptor 1

Synonyms

Jedi-1, 3110045G13Rik

MMRRC Submission

041780-MU

Accession Numbers

Ncbi RefSeq: NM_001032413.1, NM_001032414.1, NM_028460.2, NM_152799.2; MGI:1920432

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4546 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

87747890-87824306 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87754661 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 469 (G469D)

Ref Sequence

ENSEMBL: ENSMUSP00000133323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029714] [ENSMUST00000079083] [ENSMUST00000090981] [ENSMUST00000172590] [ENSMUST00000172621] [ENSMUST00000173184] [ENSMUST00000173225] [ENSMUST00000173468] [ENSMUST00000174219] [ENSMUST00000174267] [ENSMUST00000174713] [ENSMUST00000174759] [ENSMUST00000174776]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029714
AA Change: G469D

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

SMART Domains

Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: G469D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079083
AA Change: G469D

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

SMART Domains

Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: G469D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000090981
AA Change: G469D

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

SMART Domains

Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: G469D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172590

SMART Domains

Protein: ENSMUSP00000133480
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
Blast:EGF	23	50	8e-13	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000172621
AA Change: G469D

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

SMART Domains

Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: G469D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172631

Predicted Effect

probably benign
Transcript: ENSMUST00000172669

SMART Domains

Protein: ENSMUSP00000134451
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
EGF_like	1	34	1.85e0	SMART
EGF	33	65	3.1e-2	SMART
EGF	76	108	2.53e1	SMART
transmembrane domain	128	150	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173184

SMART Domains

Protein: ENSMUSP00000134100
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:EMI	23	95	3.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173225

SMART Domains

Protein: ENSMUSP00000134387
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173468

SMART Domains

Protein: ENSMUSP00000133988
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:EMI	23	96	2.1e-16	PFAM
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF	184	215	1.84e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173747

Predicted Effect

probably benign
Transcript: ENSMUST00000174219

SMART Domains

Protein: ENSMUSP00000133565
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
EGF	15	47	4.03e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174267

SMART Domains

Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174713

SMART Domains

Protein: ENSMUSP00000134215
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174759
AA Change: G469D

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

SMART Domains

Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: G469D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174776

SMART Domains

Protein: ENSMUSP00000133749
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:EMI	23	96	6.3e-17	PFAM
Blast:FU	97	120	1e-5	BLAST

Meta Mutation Damage Score

0.7231

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show no apparent defects in hemostasis or thrombus formation. Although in vitro dextran sulfate-induced platelet aggregation is impaired, platelet aggregation initiated with physiological agonists is normal. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	G	A	14: 70,156,478	S236L	probably benign	Het
Alg9	C	T	9: 50,805,354	T409M	possibly damaging	Het
Alpi	T	A	1: 87,099,117	Y413F	probably damaging	Het
Asmt	T	C	X: 170,676,495		probably null	Het
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
Bnc2	A	G	4: 84,291,976	F744L	probably benign	Het
Ccnyl1	G	T	1: 64,723,576	M347I	probably benign	Het
Cdk13	T	C	13: 17,766,574	K21R	probably damaging	Het
Cenpf	A	C	1: 189,654,650	L1811R	probably damaging	Het
Cr2	A	G	1: 195,171,041	I43T	possibly damaging	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Cylc2	C	G	4: 51,229,651	T331R	unknown	Het
Cylc2	A	T	4: 51,229,840	D394V	unknown	Het
Dcaf8	T	C	1: 172,179,893		probably benign	Het
Dlec1	A	T	9: 119,128,078	I796F	probably damaging	Het
Dnah12	A	T	14: 26,773,014	Q1343L	probably damaging	Het
Dnajc21	T	C	15: 10,447,097	R522G	probably benign	Het
F2rl3	C	T	8: 72,762,583	A146V	probably benign	Het
Fastkd1	C	T	2: 69,712,311	E51K	probably damaging	Het
Glrb	T	C	3: 80,879,686	S57G	probably damaging	Het
Gm10093	A	T	17: 78,492,959	T460S	probably benign	Het
Gm4737	C	T	16: 46,153,967	C349Y	possibly damaging	Het
Gm5507	T	A	18: 53,984,337		noncoding transcript	Het
Golga4	A	G	9: 118,556,845	K22E	probably damaging	Het
Ift122	T	A	6: 115,890,588	L433Q	probably damaging	Het
Il21r	A	G	7: 125,628,899	R181G	probably damaging	Het
Il5ra	G	T	6: 106,738,498	S125*	probably null	Het
Kdm7a	T	C	6: 39,175,472	R97G	probably benign	Het
Lepr	T	A	4: 101,814,641	I954N	probably benign	Het
Lims1	T	C	10: 58,418,790		probably benign	Het
Maats1	C	T	16: 38,335,523	V113I	probably benign	Het
Mest	T	C	6: 30,740,680	W13R	probably damaging	Het
Mfn2	A	G	4: 147,887,452	V224A	probably benign	Het
Muc15	T	C	2: 110,737,499	S330P	probably damaging	Het
Ncapg	T	C	5: 45,671,212	F102L	probably damaging	Het
Nkd2	T	C	13: 73,823,356	D187G	probably benign	Het
Nphp1	C	T	2: 127,766,019		probably null	Het
Olfr1129	T	C	2: 87,575,186	F34S	probably benign	Het
Olfr378	T	C	11: 73,425,186	N266D	probably benign	Het
Olfr446	C	T	6: 42,927,414	S61L	probably damaging	Het
Osbpl6	T	C	2: 76,584,492	V409A	possibly damaging	Het
Pdhx	A	T	2: 103,073,397	L18Q	probably null	Het
Plec	T	C	15: 76,181,557	T1506A	probably benign	Het
Plod3	T	A	5: 136,988,947	D192E	possibly damaging	Het
Rbks	T	C	5: 31,624,568	N296S	probably benign	Het
Sema3c	G	A	5: 17,694,772	V421I	probably benign	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Slc7a8	C	G	14: 54,735,790	G240A	possibly damaging	Het
Tmem200c	A	G	17: 68,842,171	D583G	probably benign	Het
Trpm6	A	G	19: 18,832,477	Y1079C	probably damaging	Het
Ttn	T	C	2: 76,822,588		probably null	Het
Vcp	T	C	4: 42,988,813		probably benign	Het
Vmn2r78	T	C	7: 86,954,603	V663A	probably damaging	Het
Vmn2r9	T	G	5: 108,847,685	M366L	probably benign	Het
Wdr11	A	G	7: 129,629,005	E878G	probably damaging	Het
Zan	C	G	5: 137,383,834	M5150I	unknown	Het

Other mutations in Pear1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Pear1	APN	3	87752116	missense	possibly damaging	0.65
IGL01810:Pear1	APN	3	87752301	missense	probably damaging	0.98
IGL02269:Pear1	APN	3	87756264	missense	probably damaging	1.00
IGL02635:Pear1	APN	3	87750146	makesense	probably null
R0040:Pear1	UTSW	3	87754358	missense	probably damaging	0.99
R0040:Pear1	UTSW	3	87754358	missense	probably damaging	0.99
R0050:Pear1	UTSW	3	87755987	nonsense	probably null
R0050:Pear1	UTSW	3	87755987	nonsense	probably null
R0090:Pear1	UTSW	3	87754342	missense	possibly damaging	0.82
R0547:Pear1	UTSW	3	87788800	intron	probably null
R1024:Pear1	UTSW	3	87760299	unclassified	probably benign
R1612:Pear1	UTSW	3	87751853	critical splice donor site	probably null
R1637:Pear1	UTSW	3	87756753	missense	probably damaging	0.97
R1772:Pear1	UTSW	3	87754492	unclassified	probably benign
R1888:Pear1	UTSW	3	87810575	splice site	probably benign
R2129:Pear1	UTSW	3	87758359	nonsense	probably null
R2255:Pear1	UTSW	3	87752186	missense	probably damaging	1.00
R3551:Pear1	UTSW	3	87758132	missense	probably benign
R3855:Pear1	UTSW	3	87751921	missense	possibly damaging	0.94
R4021:Pear1	UTSW	3	87756222	missense	possibly damaging	0.89
R5364:Pear1	UTSW	3	87758361	missense	probably damaging	1.00
R5447:Pear1	UTSW	3	87759142	missense	probably damaging	1.00
R5504:Pear1	UTSW	3	87752695	splice site	probably benign
R6026:Pear1	UTSW	3	87756913	missense	probably damaging	1.00
R6061:Pear1	UTSW	3	87755931	missense	probably benign	0.02
R6155:Pear1	UTSW	3	87759568	missense	probably damaging	0.97
R6175:Pear1	UTSW	3	87752133	missense	possibly damaging	0.93
R6339:Pear1	UTSW	3	87752520	missense	probably damaging	1.00
R6385:Pear1	UTSW	3	87754199	missense	probably benign	0.00
R6715:Pear1	UTSW	3	87759117	missense	probably damaging	1.00
R6929:Pear1	UTSW	3	87759565	nonsense	probably null
R7088:Pear1	UTSW	3	87754638	missense	possibly damaging	0.80
R7097:Pear1	UTSW	3	87751445	missense	probably benign	0.00
R7229:Pear1	UTSW	3	87750289	missense	probably benign	0.00
R7334:Pear1	UTSW	3	87750225	missense	probably damaging	1.00
R7526:Pear1	UTSW	3	87752568	missense	probably damaging	0.99
X0063:Pear1	UTSW	3	87754072	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCTAGTCAGATTGTGGG -3'
(R):5'- ATACTCAGGTGGGCTGGCAG -3'

Sequencing Primer
(F):5'- AGCCGGGCTGTGCACTTAC -3'
(R):5'- CAGAGGCGGCCAGGTGG -3'

Posted On

2016-04-04