Incidental Mutation 'R6715:Pear1'
ID 529283
Institutional Source Beutler Lab
Gene Symbol Pear1
Ensembl Gene ENSMUSG00000028073
Gene Name platelet endothelial aggregation receptor 1
Synonyms Jedi-1, 3110045G13Rik
MMRRC Submission 044833-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6715 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 87656404-87676262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87666424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 93 (Y93C)
Ref Sequence ENSEMBL: ENSMUSP00000133749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029714] [ENSMUST00000079083] [ENSMUST00000090981] [ENSMUST00000172590] [ENSMUST00000172621] [ENSMUST00000173184] [ENSMUST00000173468] [ENSMUST00000174759] [ENSMUST00000174776] [ENSMUST00000173225] [ENSMUST00000174267] [ENSMUST00000174713] [ENSMUST00000174219]
AlphaFold Q8VIK5
Predicted Effect probably damaging
Transcript: ENSMUST00000029714
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: Y93C

DomainStartEndE-ValueType
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: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: Y93C

DomainStartEndE-ValueType
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: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: Y93C

DomainStartEndE-ValueType
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: ENSMUST00000172590
AA Change: Y14C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133480
Gene: ENSMUSG00000028073
AA Change: Y14C

DomainStartEndE-ValueType
Blast:EGF 23 50 8e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000172621
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: Y93C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000173184
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134100
Gene: ENSMUSG00000028073
AA Change: Y93C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:EMI 23 95 3.5e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173468
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133988
Gene: ENSMUSG00000028073
AA Change: Y93C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000174759
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: Y93C

DomainStartEndE-ValueType
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: ENSMUST00000174776
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133749
Gene: ENSMUSG00000028073
AA Change: Y93C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:EMI 23 96 6.3e-17 PFAM
Blast:FU 97 120 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173225
SMART Domains Protein: ENSMUSP00000134387
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174267
SMART Domains Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174713
SMART Domains Protein: ENSMUSP00000134215
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174219
SMART Domains Protein: ENSMUSP00000133565
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
EGF 15 47 4.03e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173747
Meta Mutation Damage Score 0.2208 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency 100% (35/35)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 G A 12: 88,425,850 (GRCm39) R426H probably damaging Het
Arl2 G A 19: 6,187,555 (GRCm39) R98C probably damaging Het
Atm A G 9: 53,442,948 (GRCm39) I105T probably damaging Het
Cnnm2 G A 19: 46,842,412 (GRCm39) G565E probably damaging Het
Ddx60 G A 8: 62,436,924 (GRCm39) G958D probably benign Het
Fbxo2 T A 4: 148,250,226 (GRCm39) M252K probably benign Het
Filip1 C A 9: 79,726,040 (GRCm39) A860S probably benign Het
Gm11992 C A 11: 9,011,214 (GRCm39) S218R probably damaging Het
Gnb3 A G 6: 124,814,691 (GRCm39) L69P possibly damaging Het
Gpr18 T G 14: 122,149,389 (GRCm39) H212P possibly damaging Het
Iqcb1 T C 16: 36,655,991 (GRCm39) F126S probably damaging Het
Katnip C T 7: 125,361,001 (GRCm39) Q104* probably null Het
Kcnh1 A G 1: 192,019,949 (GRCm39) D425G probably benign Het
Kdm5b T A 1: 134,536,799 (GRCm39) probably null Het
Mcm3ap C T 10: 76,325,366 (GRCm39) T989M possibly damaging Het
Mtor T C 4: 148,623,004 (GRCm39) C1999R probably benign Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Myof A T 19: 37,956,794 (GRCm39) D508E probably benign Het
Or52b2 A T 7: 104,986,539 (GRCm39) I128N probably damaging Het
Or56b2j G A 7: 104,353,163 (GRCm39) V130M possibly damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Osbpl7 A G 11: 96,945,425 (GRCm39) H266R probably damaging Het
Pgr A G 9: 8,965,000 (GRCm39) H881R possibly damaging Het
Rfx1 A G 8: 84,822,444 (GRCm39) E914G possibly damaging Het
Samm50 T C 15: 84,095,259 (GRCm39) I415T probably benign Het
Snx7 T C 3: 117,575,985 (GRCm39) D434G possibly damaging Het
Susd4 G A 1: 182,719,602 (GRCm39) V406M probably benign Het
Syt15 G T 14: 33,944,819 (GRCm39) G122V probably damaging Het
Tlr5 A G 1: 182,800,224 (GRCm39) probably benign Het
Ttc6 T C 12: 57,721,556 (GRCm39) probably null Het
Vmn1r211 C A 13: 23,035,949 (GRCm39) M239I probably benign Het
Vps37a G T 8: 40,993,902 (GRCm39) probably null Het
Other mutations in Pear1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Pear1 APN 3 87,659,423 (GRCm39) missense possibly damaging 0.65
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
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
Predicted Primers PCR Primer
(F):5'- AACCCCAGCTACAGTTACTGG -3'
(R):5'- TGTCTAGTTCATTGGACACGTG -3'

Sequencing Primer
(F):5'- CAGCTACAGTTACTGGCCAAAGG -3'
(R):5'- GGGGGATACTTAACCTCTGACCTC -3'
Posted On 2018-07-24