Incidental Mutation 'R1676:Emilin2'
ID 188137
Institutional Source Beutler Lab
Gene Symbol Emilin2
Ensembl Gene ENSMUSG00000024053
Gene Name elastin microfibril interfacer 2
Synonyms basilin, FOAP-10
MMRRC Submission 039712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1676 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 71559167-71618551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71581085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 547 (D547G)
Ref Sequence ENSEMBL: ENSMUSP00000024849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024849]
AlphaFold Q8K482
Predicted Effect probably benign
Transcript: ENSMUST00000024849
AA Change: D547G

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: D547G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G T 11: 58,771,819 (GRCm39) A434S possibly damaging Het
Abhd8 T A 8: 71,914,517 (GRCm39) D37V probably damaging Het
Acvr2a G A 2: 48,763,095 (GRCm39) S97N probably benign Het
Ampd3 T A 7: 110,394,940 (GRCm39) H296Q probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Cap2 T G 13: 46,791,335 (GRCm39) H167Q probably damaging Het
Car8 A G 4: 8,185,616 (GRCm39) L180S probably damaging Het
Casp8 T A 1: 58,883,575 (GRCm39) I314N probably damaging Het
Cavin2 T A 1: 51,340,330 (GRCm39) S336T probably benign Het
Cdc14b A T 13: 64,373,416 (GRCm39) I119N possibly damaging Het
Cemip T A 7: 83,613,246 (GRCm39) I651F possibly damaging Het
Cfap57 T A 4: 118,453,137 (GRCm39) D522V probably damaging Het
Clrn3 A T 7: 135,120,307 (GRCm39) V93D probably damaging Het
Crppa T C 12: 36,526,720 (GRCm39) C170R probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
D5Ertd579e A G 5: 36,773,453 (GRCm39) V314A probably benign Het
Dchs1 C T 7: 105,404,128 (GRCm39) V2805I probably benign Het
Dsp A T 13: 38,377,350 (GRCm39) K1712* probably null Het
Erbb3 T C 10: 128,419,117 (GRCm39) H248R probably benign Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Fbn1 T C 2: 125,151,701 (GRCm39) T2518A probably damaging Het
Fzd2 G A 11: 102,496,707 (GRCm39) V384M probably damaging Het
Gpc5 T A 14: 115,607,510 (GRCm39) S371T probably damaging Het
Hbb-bh2 T C 7: 103,488,362 (GRCm39) K145R probably null Het
Hectd1 G T 12: 51,791,571 (GRCm39) P2558Q probably damaging Het
Hgsnat C T 8: 26,444,633 (GRCm39) probably null Het
Hirip3 T C 7: 126,462,647 (GRCm39) probably null Het
Itpkc T C 7: 26,907,706 (GRCm39) D666G probably damaging Het
Jmjd1c T A 10: 67,060,588 (GRCm39) D693E probably benign Het
Katnbl1 T C 2: 112,236,454 (GRCm39) L60P probably damaging Het
Kcna1 T A 6: 126,619,645 (GRCm39) E225V probably damaging Het
Kcnj6 T A 16: 94,633,443 (GRCm39) M223L probably damaging Het
Kcnk7 G T 19: 5,757,006 (GRCm39) V332F probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Mdga2 C A 12: 66,615,546 (GRCm39) G618V probably damaging Het
Mdga2 C A 12: 66,615,547 (GRCm39) G618* probably null Het
Morc2b T C 17: 33,354,955 (GRCm39) E939G possibly damaging Het
Mstn T A 1: 53,101,224 (GRCm39) D100E probably benign Het
Mthfd1l G A 10: 4,033,877 (GRCm39) probably null Het
Muc20 T A 16: 32,614,649 (GRCm39) T243S probably damaging Het
Myo1d A T 11: 80,575,247 (GRCm39) N156K probably damaging Het
Myo7a A G 7: 97,748,679 (GRCm39) probably null Het
Naa35 A T 13: 59,760,490 (GRCm39) Q274L probably damaging Het
Ncam1 G A 9: 49,468,472 (GRCm39) T329I probably damaging Het
Nisch T C 14: 30,902,859 (GRCm39) probably benign Het
Nlrp1b A T 11: 71,073,637 (GRCm39) W69R probably benign Het
Nrap T A 19: 56,323,687 (GRCm39) H1294L probably damaging Het
Nsun6 T A 2: 15,052,024 (GRCm39) R56* probably null Het
Nudt1 A G 5: 140,320,378 (GRCm39) probably null Het
Nxph4 T G 10: 127,362,077 (GRCm39) K271N probably damaging Het
Or1af1 A T 2: 37,109,653 (GRCm39) R51* probably null Het
Or4a66 T G 2: 88,531,661 (GRCm39) H4P probably benign Het
Or51e2 T A 7: 102,391,605 (GRCm39) I202F probably damaging Het
Or52a20 T C 7: 103,366,319 (GRCm39) W173R probably benign Het
Otud6b T A 4: 14,825,617 (GRCm39) N71I probably damaging Het
Parp8 T A 13: 117,014,064 (GRCm39) D623V probably damaging Het
Pcdhb5 T C 18: 37,453,805 (GRCm39) S62P probably benign Het
Ppp1r12b A G 1: 134,705,190 (GRCm39) S833P probably damaging Het
Ppp1r1a T G 15: 103,441,915 (GRCm39) D51A probably damaging Het
Prag1 C A 8: 36,570,052 (GRCm39) P212T probably damaging Het
Prxl2b C T 4: 154,981,520 (GRCm39) V186I probably benign Het
Ptdss1 A G 13: 67,081,701 (GRCm39) T44A probably damaging Het
Rab14 T C 2: 35,076,735 (GRCm39) H83R possibly damaging Het
Rapgef3 C T 15: 97,659,063 (GRCm39) G101E probably benign Het
Rimbp3 T A 16: 17,028,977 (GRCm39) D800E probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Selenbp1 A G 3: 94,851,854 (GRCm39) D465G probably damaging Het
Slc28a2b T C 2: 122,352,340 (GRCm39) S366P probably damaging Het
Slc29a1 T C 17: 45,899,936 (GRCm39) D251G probably damaging Het
Slc6a11 G T 6: 114,224,627 (GRCm39) V604F probably benign Het
Sltm T A 9: 70,480,929 (GRCm39) D260E probably damaging Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
St6gal2 T C 17: 55,803,396 (GRCm39) probably null Het
Tc2n A G 12: 101,655,251 (GRCm39) S235P probably damaging Het
Tenm3 T A 8: 48,870,154 (GRCm39) N213I possibly damaging Het
Ticam2 T C 18: 46,693,677 (GRCm39) T137A probably damaging Het
Ttn TCCC TCCCC 2: 76,573,251 (GRCm39) probably null Het
Tyk2 G A 9: 21,026,545 (GRCm39) Q684* probably null Het
Ubqln1 A G 13: 58,327,205 (GRCm39) F478S possibly damaging Het
Uckl1 G A 2: 181,216,711 (GRCm39) T78I probably damaging Het
Uhmk1 A G 1: 170,027,581 (GRCm39) V372A probably damaging Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Ush2a T C 1: 188,460,782 (GRCm39) L2681P probably damaging Het
Vmn2r1 C T 3: 63,997,603 (GRCm39) Q420* probably null Het
Vmn2r101 A T 17: 19,832,184 (GRCm39) T727S probably benign Het
Vmn2r79 A G 7: 86,651,839 (GRCm39) T413A probably benign Het
Vps13c T C 9: 67,834,244 (GRCm39) V1637A probably benign Het
Xpc A G 6: 91,469,929 (GRCm39) V765A possibly damaging Het
Zbtb18 T G 1: 177,274,913 (GRCm39) probably null Het
Zfp712 A T 13: 67,200,400 (GRCm39) D28E probably benign Het
Zfp735 A G 11: 73,602,301 (GRCm39) N415S possibly damaging 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
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
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'- CGCTCACTCCGTTCTGCAAGTAAG -3'
(R):5'- TGAGAAGATCCACTCCCTGGAAGAC -3'

Sequencing Primer
(F):5'- TAAGTCCCCGTACATTCGGAG -3'
(R):5'- AAGACCGTCTGGGAATTGTTC -3'
Posted On 2014-05-09