Incidental Mutation 'R5028:Emilin2'
ID 391536
Institutional Source Beutler Lab
Gene Symbol Emilin2
Ensembl Gene ENSMUSG00000024053
Gene Name elastin microfibril interfacer 2
Synonyms basilin, FOAP-10
MMRRC Submission 042619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5028 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 71559167-71618551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71581727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 333 (E333G)
Ref Sequence ENSEMBL: ENSMUSP00000024849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024849]
AlphaFold Q8K482
Predicted Effect possibly damaging
Transcript: ENSMUST00000024849
AA Change: E333G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: E333G

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 0.1729 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 97% (62/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,104,356 (GRCm39) S777C probably damaging Het
Ano5 T A 7: 51,187,458 (GRCm39) probably null Het
Arhgap17 T A 7: 122,893,896 (GRCm39) H508L probably benign Het
Arhgap29 T A 3: 121,803,709 (GRCm39) probably null Het
Atp12a T C 14: 56,624,435 (GRCm39) F961S probably damaging Het
B4galnt4 C A 7: 140,647,975 (GRCm39) P497Q probably benign Het
Camsap1 A G 2: 25,834,568 (GRCm39) S364P probably damaging Het
Ccdc150 C A 1: 54,302,636 (GRCm39) D85E probably benign Het
Cdc45 A G 16: 18,613,930 (GRCm39) Y291H probably benign Het
Comp A C 8: 70,829,290 (GRCm39) N289T probably damaging Het
Cops3 T A 11: 59,708,856 (GRCm39) probably benign Het
Crybg1 G A 10: 43,874,208 (GRCm39) H967Y possibly damaging Het
Csmd1 A T 8: 16,039,090 (GRCm39) F2423I probably damaging Het
Dact1 C A 12: 71,365,347 (GRCm39) C709* probably null Het
Dcxr T G 11: 120,617,273 (GRCm39) Q90P probably damaging Het
Ell A G 8: 71,043,349 (GRCm39) Y494C probably damaging Het
Eml2 T C 7: 18,913,372 (GRCm39) probably null Het
Fam186b T A 15: 99,178,682 (GRCm39) M215L probably damaging Het
Gm17078 T A 14: 51,848,699 (GRCm39) R13W probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hspa14 A G 2: 3,499,206 (GRCm39) F196S possibly damaging Het
Ier5 A G 1: 154,974,849 (GRCm39) S110P possibly damaging Het
Kif1a T A 1: 92,982,049 (GRCm39) I793F possibly damaging Het
Lrrc43 T C 5: 123,646,176 (GRCm39) I643T probably damaging Het
Map3k19 A T 1: 127,750,969 (GRCm39) L794Q probably benign Het
Meox2 A T 12: 37,158,935 (GRCm39) M36L probably benign Het
Mgat5b T A 11: 116,875,855 (GRCm39) L693Q probably damaging Het
Mup4 T A 4: 59,958,124 (GRCm39) E148V possibly damaging Het
Napb T C 2: 148,545,057 (GRCm39) N162S possibly damaging Het
Nlgn2 T C 11: 69,718,563 (GRCm39) D339G probably benign Het
Nucks1 C T 1: 131,855,840 (GRCm39) R90C possibly damaging Het
Or11g7 T C 14: 50,691,196 (GRCm39) V229A probably damaging Het
Or5an9 T A 19: 12,187,518 (GRCm39) V196E possibly damaging Het
Plekhd1 A T 12: 80,739,723 (GRCm39) D24V probably damaging Het
Prpf4b C T 13: 35,083,958 (GRCm39) P909L probably damaging Het
Rasgrp1 T A 2: 117,132,485 (GRCm39) K116* probably null Het
Ror1 A G 4: 100,269,133 (GRCm39) T324A possibly damaging Het
Slc24a4 G A 12: 102,230,629 (GRCm39) G505R probably damaging Het
Slc8a1 A G 17: 81,956,702 (GRCm39) I112T possibly damaging Het
Smarcc2 A G 10: 128,297,314 (GRCm39) S69G probably damaging Het
Smc2 A T 4: 52,458,447 (GRCm39) E429D probably damaging Het
Sry T C Y: 2,663,312 (GRCm39) D116G probably damaging Het
Tcea3 T A 4: 135,985,246 (GRCm39) V154E possibly damaging Het
Tigd2 G A 6: 59,188,205 (GRCm39) W357* probably null Het
Tmem177 T A 1: 119,838,419 (GRCm39) T87S probably benign Het
Treh A T 9: 44,594,186 (GRCm39) E144V probably null Het
Trpm6 T A 19: 18,764,124 (GRCm39) D243E probably damaging Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Vars2 A C 17: 35,970,365 (GRCm39) probably null Het
Vmn1r201 G A 13: 22,659,530 (GRCm39) W248* probably null Het
Yap1 T C 9: 8,001,690 (GRCm39) T99A probably benign Het
Zbtb8b C A 4: 129,326,793 (GRCm39) C91F probably damaging Het
Zfp882 A G 8: 72,668,498 (GRCm39) T442A possibly damaging Het
Zxdc G T 6: 90,359,320 (GRCm39) G651C 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
R2380: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
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'- CATTGCAACAGCTTGGTTGG -3'
(R):5'- TTGGCTGAGGTCAAAGACAC -3'

Sequencing Primer
(F):5'- CAACAGCTTGGTTGGGCTACAG -3'
(R):5'- CTGAGGTCAAAGACACACTGAAGAC -3'
Posted On 2016-06-06