Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00326:Pear1'

6851

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pear1

Ensembl Gene

ENSMUSG00000028073

Gene Name

platelet endothelial aggregation receptor 1

Synonyms

Jedi-1, 3110045G13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00326

Quality Score

Status

Chromosome

Chromosomal Location

87656404-87676262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87659423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 804 (V804I)

Ref Sequence

ENSEMBL: ENSMUSP00000133323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000029714] [ENSMUST00000079083] [ENSMUST00000090981] [ENSMUST00000172621] [ENSMUST00000174759] [ENSMUST00000173468] [ENSMUST00000174219] [ENSMUST00000174713] [ENSMUST00000174267]

AlphaFold

Q8VIK5

Predicted Effect

probably benign
Transcript: ENSMUST00000023846

SMART Domains

Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Blast:LRR	165	191	6e-7	BLAST
LRR	219	246	4.24e-1	SMART
LRR	251	278	1.33e-1	SMART
LRR	279	306	1.98e-4	SMART
low complexity region	312	323	N/A	INTRINSIC
low complexity region	329	337	N/A	INTRINSIC
low complexity region	376	390	N/A	INTRINSIC
low complexity region	407	414	N/A	INTRINSIC
LRR	472	499	1.83e2	SMART
low complexity region	547	557	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029714
AA Change: V804I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: V804I

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

possibly damaging
Transcript: ENSMUST00000079083
AA Change: V804I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: V804I

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

possibly damaging
Transcript: ENSMUST00000090981
AA Change: V804I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: V804I

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

possibly damaging
Transcript: ENSMUST00000172621
AA Change: V804I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: V804I

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

unknown
Transcript: ENSMUST00000172669
AA Change: V177I

SMART Domains

Protein: ENSMUSP00000134451
Gene: ENSMUSG00000028073
AA Change: V177I

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

possibly damaging
Transcript: ENSMUST00000174759
AA Change: V804I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: V804I

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: ENSMUST00000174381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174208

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

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: ENSMUST00000174713

SMART Domains

Protein: ENSMUSP00000134215
Gene: ENSMUSG00000028073

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

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

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	G	T	4: 62,461,981 (GRCm39)		probably null	Het
9230109A22Rik	G	T	15: 25,139,201 (GRCm39)		noncoding transcript	Het
Acd	A	T	8: 106,425,086 (GRCm39)	Y378N	probably damaging	Het
Adcy9	A	G	16: 4,112,560 (GRCm39)	V709A	probably benign	Het
Axl	A	T	7: 25,485,324 (GRCm39)	L168H	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Drd3	G	A	16: 43,582,684 (GRCm39)	R59H	probably benign	Het
Erlec1	T	C	11: 30,898,510 (GRCm39)	N180S	possibly damaging	Het
Fnip2	G	T	3: 79,388,828 (GRCm39)	S634R	probably benign	Het
Focad	A	T	4: 88,275,711 (GRCm39)	T1107S	unknown	Het
Galnt11	T	C	5: 25,453,829 (GRCm39)		probably benign	Het
Gigyf1	C	T	5: 137,517,210 (GRCm39)		probably benign	Het
Gpat2	A	G	2: 127,274,316 (GRCm39)	T353A	probably benign	Het
H2bc3	G	T	13: 23,931,111 (GRCm39)	V112L	possibly damaging	Het
Hip1	A	G	5: 135,478,676 (GRCm39)	F178L	probably damaging	Het
Igkv6-13	A	T	6: 70,434,645 (GRCm39)	S67T	probably damaging	Het
Iqch	T	C	9: 63,387,936 (GRCm39)	T824A	probably damaging	Het
Kansl1	A	G	11: 104,315,292 (GRCm39)	S249P	probably damaging	Het
Large1	C	T	8: 73,858,611 (GRCm39)	A86T	probably benign	Het
Lysmd3	C	T	13: 81,813,363 (GRCm39)	A77V	probably damaging	Het
Npr3	T	A	15: 11,895,780 (GRCm39)	S289C	probably damaging	Het
Or52n2	A	T	7: 104,542,179 (GRCm39)	S219T	probably damaging	Het
Or5p57	A	G	7: 107,665,495 (GRCm39)	V140A	probably benign	Het
Rgs11	T	A	17: 26,426,371 (GRCm39)	I230N	probably damaging	Het
Slc13a3	A	T	2: 165,315,017 (GRCm39)	L22Q	possibly damaging	Het
Slc5a9	A	G	4: 111,755,766 (GRCm39)	V44A	probably damaging	Het
Ttc12	G	T	9: 49,382,506 (GRCm39)		probably null	Het
Vmn2r2	A	G	3: 64,041,319 (GRCm39)		probably benign	Het
Zc3h18	T	C	8: 123,113,591 (GRCm39)		probably benign	Het
Zfp354a	G	A	11: 50,960,190 (GRCm39)	E132K	probably benign	Het

Other mutations in Pear1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Pear1	APN	3	87,659,608 (GRCm39)	missense	probably damaging	0.98
IGL02269:Pear1	APN	3	87,663,571 (GRCm39)	missense	probably damaging	1.00
IGL02635:Pear1	APN	3	87,657,453 (GRCm39)	makesense	probably null
R0040:Pear1	UTSW	3	87,661,665 (GRCm39)	missense	probably damaging	0.99
R0040:Pear1	UTSW	3	87,661,665 (GRCm39)	missense	probably damaging	0.99
R0050:Pear1	UTSW	3	87,663,294 (GRCm39)	nonsense	probably null
R0050:Pear1	UTSW	3	87,663,294 (GRCm39)	nonsense	probably null
R0090:Pear1	UTSW	3	87,661,649 (GRCm39)	missense	possibly damaging	0.82
R0547:Pear1	UTSW	3	87,696,107 (GRCm39)	splice site	probably null
R1024:Pear1	UTSW	3	87,667,606 (GRCm39)	unclassified	probably benign
R1612:Pear1	UTSW	3	87,659,160 (GRCm39)	critical splice donor site	probably null
R1637:Pear1	UTSW	3	87,664,060 (GRCm39)	missense	probably damaging	0.97
R1772:Pear1	UTSW	3	87,661,799 (GRCm39)	unclassified	probably benign
R1888:Pear1	UTSW	3	87,717,882 (GRCm39)	splice site	probably benign
R2129:Pear1	UTSW	3	87,665,666 (GRCm39)	nonsense	probably null
R2255:Pear1	UTSW	3	87,659,493 (GRCm39)	missense	probably damaging	1.00
R3551:Pear1	UTSW	3	87,665,439 (GRCm39)	missense	probably benign
R3855:Pear1	UTSW	3	87,659,228 (GRCm39)	missense	possibly damaging	0.94
R4021:Pear1	UTSW	3	87,663,529 (GRCm39)	missense	possibly damaging	0.89
R4546:Pear1	UTSW	3	87,661,968 (GRCm39)	missense	probably damaging	1.00
R5364:Pear1	UTSW	3	87,665,668 (GRCm39)	missense	probably damaging	1.00
R5447:Pear1	UTSW	3	87,666,449 (GRCm39)	missense	probably damaging	1.00
R5504:Pear1	UTSW	3	87,660,002 (GRCm39)	splice site	probably benign
R6026:Pear1	UTSW	3	87,664,220 (GRCm39)	missense	probably damaging	1.00
R6061:Pear1	UTSW	3	87,663,238 (GRCm39)	missense	probably benign	0.02
R6155:Pear1	UTSW	3	87,666,875 (GRCm39)	missense	probably damaging	0.97
R6175:Pear1	UTSW	3	87,659,440 (GRCm39)	missense	possibly damaging	0.93
R6339:Pear1	UTSW	3	87,659,827 (GRCm39)	missense	probably damaging	1.00
R6385:Pear1	UTSW	3	87,661,506 (GRCm39)	missense	probably benign	0.00
R6715:Pear1	UTSW	3	87,666,424 (GRCm39)	missense	probably damaging	1.00
R6929:Pear1	UTSW	3	87,666,872 (GRCm39)	nonsense	probably null
R7088:Pear1	UTSW	3	87,661,945 (GRCm39)	missense	possibly damaging	0.80
R7097:Pear1	UTSW	3	87,658,752 (GRCm39)	missense	probably benign	0.00
R7229:Pear1	UTSW	3	87,657,596 (GRCm39)	missense	probably benign	0.00
R7334:Pear1	UTSW	3	87,657,532 (GRCm39)	missense	probably damaging	1.00
R7526:Pear1	UTSW	3	87,659,875 (GRCm39)	missense	probably damaging	0.99
R7872:Pear1	UTSW	3	87,659,522 (GRCm39)	missense	probably benign
R8925:Pear1	UTSW	3	87,661,890 (GRCm39)	missense	probably damaging	0.99
R8927:Pear1	UTSW	3	87,661,890 (GRCm39)	missense	probably damaging	0.99
R9014:Pear1	UTSW	3	87,658,479 (GRCm39)	missense	probably benign
R9405:Pear1	UTSW	3	87,659,890 (GRCm39)	missense	probably damaging	1.00
R9455:Pear1	UTSW	3	87,666,488 (GRCm39)	missense	possibly damaging	0.96
R9593:Pear1	UTSW	3	87,658,480 (GRCm39)	missense	probably benign	0.04
R9637:Pear1	UTSW	3	87,666,412 (GRCm39)	missense	probably benign	0.23
X0063:Pear1	UTSW	3	87,661,379 (GRCm39)	missense	probably damaging	1.00
Z1177:Pear1	UTSW	3	87,658,647 (GRCm39)	missense	possibly damaging	0.68

Posted On

2012-04-20