Incidental Mutation 'R2380:Emilin2'
ID 248447
Institutional Source Beutler Lab
Gene Symbol Emilin2
Ensembl Gene ENSMUSG00000024053
Gene Name elastin microfibril interfacer 2
Synonyms basilin, FOAP-10
MMRRC Submission 040356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2380 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 71559167-71618551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71617219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 64 (Q64L)
Ref Sequence ENSEMBL: ENSMUSP00000024849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024849]
AlphaFold Q8K482
Predicted Effect probably benign
Transcript: ENSMUST00000024849
AA Change: Q64L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: Q64L

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:EMI 48 118 1.2e-18 PFAM
coiled coil region 181 216 N/A INTRINSIC
coiled coil region 259 308 N/A INTRINSIC
coiled coil region 590 618 N/A INTRINSIC
low complexity region 809 826 N/A INTRINSIC
low complexity region 833 848 N/A INTRINSIC
low complexity region 914 927 N/A INTRINSIC
Pfam:C1q 928 1067 5.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180743
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (44/44)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit disruptions in platelet activation, thrombus formation and clot retraction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,949,036 (GRCm39) S978P possibly damaging Het
Ago3 G A 4: 126,262,315 (GRCm39) R412C probably damaging Het
Ampd3 C T 7: 110,399,917 (GRCm39) T344M probably damaging Het
Arl10 G T 13: 54,722,962 (GRCm39) V19L probably benign Het
Aspm C T 1: 139,407,086 (GRCm39) A1991V probably damaging Het
Axdnd1 A T 1: 156,193,221 (GRCm39) D655E probably benign Het
Bdp1 T C 13: 100,196,878 (GRCm39) H1169R probably benign Het
Cacna1s T C 1: 136,023,586 (GRCm39) F942L probably damaging Het
Camk2g A G 14: 20,789,455 (GRCm39) I205T probably damaging Het
Cdh5 C A 8: 104,852,304 (GRCm39) H140N possibly damaging Het
Cog8 C A 8: 107,782,993 (GRCm39) G99W probably damaging Het
Csmd1 A G 8: 16,240,101 (GRCm39) C1104R probably damaging Het
Dhrs7c G A 11: 67,706,690 (GRCm39) V283M probably benign Het
Enpp3 T C 10: 24,652,770 (GRCm39) E729G probably benign Het
Fam169a T A 13: 97,255,043 (GRCm39) probably benign Het
Gvin-ps3 T C 7: 105,681,374 (GRCm39) E627G possibly damaging Het
Hmcn1 T A 1: 150,441,135 (GRCm39) M5374L probably benign Het
Hsd17b1 A T 11: 100,969,289 (GRCm39) I8F probably damaging Het
Itgae A G 11: 73,036,395 (GRCm39) E1111G probably benign Het
Kcmf1 A G 6: 72,835,755 (GRCm39) probably null Het
Kdm1b T A 13: 47,227,231 (GRCm39) F574L probably damaging Het
Lgr4 T C 2: 109,842,738 (GRCm39) Y908H probably damaging Het
Lig1 T C 7: 13,037,722 (GRCm39) probably benign Het
Ltbp3 C A 19: 5,801,551 (GRCm39) C698* probably null Het
Ncor2 A G 5: 125,113,144 (GRCm39) V1216A possibly damaging Het
Or52e3 A T 7: 102,869,815 (GRCm39) T297S possibly damaging Het
Or5b109 T C 19: 13,212,085 (GRCm39) V157A probably benign Het
Or5l13 T C 2: 87,779,741 (GRCm39) T279A probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp5c A G 7: 16,740,040 (GRCm39) Y434H probably damaging Het
Pwwp2b A G 7: 138,835,366 (GRCm39) E269G probably damaging Het
Rgs3 A T 4: 62,544,124 (GRCm39) T299S probably benign Het
Skint5 G A 4: 113,403,733 (GRCm39) T1163I unknown Het
Slc35f4 A G 14: 49,543,660 (GRCm39) probably null Het
Smr2l T G 5: 88,430,413 (GRCm39) M103R probably benign Het
Trmt5 A G 12: 73,331,888 (GRCm39) I4T probably benign Het
Ttc7b A G 12: 100,321,260 (GRCm39) probably null Het
Utp6 A G 11: 79,826,831 (GRCm39) S582P possibly damaging Het
Zbtb41 T C 1: 139,351,552 (GRCm39) S222P probably damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Emilin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Emilin2 APN 17 71,559,854 (GRCm39) missense possibly damaging 0.80
IGL01294:Emilin2 APN 17 71,581,589 (GRCm39) missense probably benign 0.07
IGL02085:Emilin2 APN 17 71,582,144 (GRCm39) missense probably damaging 0.99
IGL02433:Emilin2 APN 17 71,581,124 (GRCm39) missense probably benign
IGL02587:Emilin2 APN 17 71,587,851 (GRCm39) splice site probably benign
IGL02639:Emilin2 APN 17 71,581,544 (GRCm39) missense probably benign 0.00
IGL02798:Emilin2 APN 17 71,563,690 (GRCm39) splice site probably benign
IGL02952:Emilin2 APN 17 71,587,816 (GRCm39) missense probably damaging 0.99
IGL02954:Emilin2 APN 17 71,563,526 (GRCm39) missense probably benign 0.37
PIT4431001:Emilin2 UTSW 17 71,562,990 (GRCm39) missense probably benign 0.16
PIT4802001:Emilin2 UTSW 17 71,580,464 (GRCm39) missense probably damaging 1.00
R0011:Emilin2 UTSW 17 71,580,863 (GRCm39) missense probably benign 0.01
R0033:Emilin2 UTSW 17 71,582,009 (GRCm39) missense probably benign 0.27
R0784:Emilin2 UTSW 17 71,582,282 (GRCm39) missense possibly damaging 0.83
R0830:Emilin2 UTSW 17 71,580,815 (GRCm39) missense probably benign
R1301:Emilin2 UTSW 17 71,562,960 (GRCm39) splice site probably benign
R1394:Emilin2 UTSW 17 71,560,066 (GRCm39) missense possibly damaging 0.79
R1501:Emilin2 UTSW 17 71,617,756 (GRCm39) missense probably benign
R1576:Emilin2 UTSW 17 71,562,112 (GRCm39) critical splice donor site probably null
R1676:Emilin2 UTSW 17 71,581,085 (GRCm39) missense probably benign 0.14
R2063:Emilin2 UTSW 17 71,581,950 (GRCm39) missense probably benign
R2149:Emilin2 UTSW 17 71,580,987 (GRCm39) missense probably benign 0.06
R2238:Emilin2 UTSW 17 71,581,734 (GRCm39) missense possibly damaging 0.83
R2239:Emilin2 UTSW 17 71,617,219 (GRCm39) missense probably benign 0.00
R2420:Emilin2 UTSW 17 71,581,274 (GRCm39) missense possibly damaging 0.90
R3721:Emilin2 UTSW 17 71,580,449 (GRCm39) missense probably benign 0.12
R4176:Emilin2 UTSW 17 71,581,258 (GRCm39) missense probably benign 0.00
R4348:Emilin2 UTSW 17 71,587,726 (GRCm39) missense probably benign
R4352:Emilin2 UTSW 17 71,587,726 (GRCm39) missense probably benign
R4695:Emilin2 UTSW 17 71,559,773 (GRCm39) missense probably damaging 1.00
R4807:Emilin2 UTSW 17 71,580,443 (GRCm39) missense probably damaging 0.98
R4980:Emilin2 UTSW 17 71,560,066 (GRCm39) missense possibly damaging 0.79
R5028:Emilin2 UTSW 17 71,581,727 (GRCm39) missense possibly damaging 0.91
R5048:Emilin2 UTSW 17 71,580,962 (GRCm39) missense probably damaging 1.00
R5153:Emilin2 UTSW 17 71,580,497 (GRCm39) missense possibly damaging 0.83
R5519:Emilin2 UTSW 17 71,559,930 (GRCm39) missense probably benign 0.12
R5580:Emilin2 UTSW 17 71,582,225 (GRCm39) missense probably benign
R6088:Emilin2 UTSW 17 71,562,119 (GRCm39) missense probably benign
R6248:Emilin2 UTSW 17 71,581,112 (GRCm39) missense probably benign 0.04
R6429:Emilin2 UTSW 17 71,617,951 (GRCm39) start gained probably benign
R7085:Emilin2 UTSW 17 71,581,100 (GRCm39) missense probably damaging 1.00
R7260:Emilin2 UTSW 17 71,581,785 (GRCm39) missense probably benign 0.00
R7525:Emilin2 UTSW 17 71,581,974 (GRCm39) missense probably benign
R7671:Emilin2 UTSW 17 71,580,905 (GRCm39) missense probably benign 0.00
R7895:Emilin2 UTSW 17 71,580,908 (GRCm39) missense probably benign 0.03
R8257:Emilin2 UTSW 17 71,580,995 (GRCm39) missense probably benign
R8310:Emilin2 UTSW 17 71,562,141 (GRCm39) missense probably damaging 1.00
R8311:Emilin2 UTSW 17 71,562,141 (GRCm39) missense probably damaging 1.00
R8811:Emilin2 UTSW 17 71,582,282 (GRCm39) missense possibly damaging 0.83
R8973:Emilin2 UTSW 17 71,582,079 (GRCm39) missense probably benign 0.28
R9146:Emilin2 UTSW 17 71,581,331 (GRCm39) missense probably damaging 1.00
R9170:Emilin2 UTSW 17 71,587,689 (GRCm39) missense probably benign 0.05
R9200:Emilin2 UTSW 17 71,581,229 (GRCm39) missense possibly damaging 0.63
R9345:Emilin2 UTSW 17 71,581,539 (GRCm39) missense probably benign 0.01
R9432:Emilin2 UTSW 17 71,581,781 (GRCm39) missense probably benign 0.02
R9455:Emilin2 UTSW 17 71,581,485 (GRCm39) missense probably benign
R9625:Emilin2 UTSW 17 71,581,112 (GRCm39) missense probably benign 0.04
R9743:Emilin2 UTSW 17 71,580,867 (GRCm39) missense probably benign 0.01
X0064:Emilin2 UTSW 17 71,587,698 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATAGCCCAGAGTAGCTGTGAG -3'
(R):5'- GTTCCAAAGACGCAAGAGAC -3'

Sequencing Primer
(F):5'- AGCCGTGCAGATATCAGACTTTG -3'
(R):5'- GACGCAAGAGACACCCTGG -3'
Posted On 2014-11-11