Incidental Mutation 'R9743:Emilin2'
ID 731951
Institutional Source Beutler Lab
Gene Symbol Emilin2
Ensembl Gene ENSMUSG00000024053
Gene Name elastin microfibril interfacer 2
Synonyms basilin, FOAP-10
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R9743 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 71559167-71618551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71580867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 620 (T620A)
Ref Sequence ENSEMBL: ENSMUSP00000024849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024849]
AlphaFold Q8K482
Predicted Effect probably benign
Transcript: ENSMUST00000024849
AA Change: T620A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: T620A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,687,716 (GRCm39) H571R probably benign Het
Adamts13 T C 2: 26,886,812 (GRCm39) V983A probably benign Het
Adamts13 G A 2: 26,895,491 (GRCm39) probably null Het
AI661453 T A 17: 47,780,240 (GRCm39) N1181K unknown Het
Ank2 A T 3: 126,733,794 (GRCm39) N605K possibly damaging Het
Armc2 T G 10: 41,798,598 (GRCm39) K737T probably benign Het
Aspn A G 13: 49,705,150 (GRCm39) Y4C probably benign Het
B3galt2 T C 1: 143,522,847 (GRCm39) F328L probably benign Het
Brd10 A C 19: 29,694,261 (GRCm39) I1744S probably benign Het
Ccl3 T C 11: 83,539,428 (GRCm39) E52G probably damaging Het
Col5a1 C T 2: 27,864,505 (GRCm39) A728V unknown Het
Cyp1b1 T A 17: 80,017,808 (GRCm39) D449V probably benign Het
D130043K22Rik C T 13: 25,056,299 (GRCm39) P544S probably damaging Het
Dgkd T A 1: 87,861,850 (GRCm39) W28R Het
Ercc6 T G 14: 32,298,943 (GRCm39) S1444A probably benign Het
Fam149b A G 14: 20,413,411 (GRCm39) H264R probably benign Het
Fbxo7 T C 10: 85,883,773 (GRCm39) V458A probably benign Het
Gria4 T G 9: 4,464,457 (GRCm39) T502P probably damaging Het
Hfm1 T C 5: 107,022,125 (GRCm39) T974A possibly damaging Het
Ifna16 T C 4: 88,594,930 (GRCm39) D55G probably damaging Het
Lyst T C 13: 13,809,323 (GRCm39) V331A possibly damaging Het
Mkks T C 2: 136,722,992 (GRCm39) Y55C probably benign Het
Muc4 T C 16: 32,601,194 (GRCm39) F1291L Het
Myo18a A G 11: 77,723,304 (GRCm39) N1183S probably benign Het
Olfm2 T C 9: 20,579,785 (GRCm39) D322G probably damaging Het
Or2a25 G A 6: 42,888,835 (GRCm39) C126Y probably damaging Het
Or2a51 A G 6: 43,179,229 (GRCm39) Y217C probably benign Het
Or5aq7 A G 2: 86,937,840 (GRCm39) V297A probably damaging Het
Or7h8 A G 9: 20,123,840 (GRCm39) N65S probably damaging Het
Pdik1l A T 4: 134,011,815 (GRCm39) D9E probably benign Het
Pdzrn3 C A 6: 101,354,678 (GRCm39) G58C probably damaging Het
Pex13 A T 11: 23,606,119 (GRCm39) L37* probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Ptprq T A 10: 107,520,982 (GRCm39) Y730F probably damaging Het
Rnase11 T A 14: 51,287,370 (GRCm39) K61N probably benign Het
Setdb2 T C 14: 59,651,002 (GRCm39) D427G probably benign Het
Slc22a21 A G 11: 53,842,575 (GRCm39) V518A probably benign Het
Slf2 T C 19: 44,930,572 (GRCm39) S550P probably benign Het
Supt16 T C 14: 52,408,939 (GRCm39) R812G probably damaging Het
Taf4 C T 2: 179,581,592 (GRCm39) V464M possibly damaging Het
Tas1r3 G A 4: 155,945,256 (GRCm39) T655I probably damaging Het
Tg G A 15: 66,561,839 (GRCm39) V1108I probably benign Het
Tmc7 C A 7: 118,150,452 (GRCm39) R360S probably damaging Het
Tor3a T C 1: 156,501,103 (GRCm39) T112A probably benign Het
Tsr3 T C 17: 25,460,674 (GRCm39) L180P possibly damaging Het
Unc5d T C 8: 29,209,801 (GRCm39) T512A possibly damaging Het
Vmn2r103 T A 17: 20,032,475 (GRCm39) Y750N probably damaging Het
Vmn2r20 A T 6: 123,373,369 (GRCm39) V491D probably damaging Het
Vmn2r52 T C 7: 9,904,606 (GRCm39) E411G possibly damaging Het
Zfp760 T A 17: 21,942,338 (GRCm39) S504R 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
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
X0064:Emilin2 UTSW 17 71,587,698 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTCTAGCTCAGCCAACATTTG -3'
(R):5'- AAGTGGTTGAGGACTTCTGCC -3'

Sequencing Primer
(F):5'- AACATTTGGTTCTGCAGCTTCTG -3'
(R):5'- TGAGGACTTCTGCCTGCAG -3'
Posted On 2022-11-14