Incidental Mutation 'R5580:Emilin2'
ID 438444
Institutional Source Beutler Lab
Gene Symbol Emilin2
Ensembl Gene ENSMUSG00000024053
Gene Name elastin microfibril interfacer 2
Synonyms basilin, FOAP-10
MMRRC Submission 043134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5580 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 71559167-71618551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71582225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 167 (V167A)
Ref Sequence ENSEMBL: ENSMUSP00000024849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024849]
AlphaFold Q8K482
Predicted Effect probably benign
Transcript: ENSMUST00000024849
AA Change: V167A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: V167A

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik A G 7: 43,900,664 (GRCm39) T73A possibly damaging Het
A1bg A T 15: 60,790,881 (GRCm39) V365E probably benign Het
Abcg5 A C 17: 84,967,582 (GRCm39) V406G probably damaging Het
Adamts12 A G 15: 11,152,086 (GRCm39) Y192C probably benign Het
Add3 C T 19: 53,233,642 (GRCm39) S649L probably damaging Het
Adgrg6 A T 10: 14,286,228 (GRCm39) C1129* probably null Het
Arsb T A 13: 93,944,053 (GRCm39) V248D probably damaging Het
AW554918 A T 18: 25,472,922 (GRCm39) N39I probably damaging Het
Cacna1b A T 2: 24,540,566 (GRCm39) I1383N probably damaging Het
Caprin2 A T 6: 148,760,232 (GRCm39) V625D possibly damaging Het
Cd9 A G 6: 125,441,420 (GRCm39) L67P probably damaging Het
Cdh5 T A 8: 104,852,126 (GRCm39) Y80* probably null Het
Csf2ra A G 19: 61,214,655 (GRCm39) L223P probably damaging Het
Cyp2c67 T C 19: 39,604,094 (GRCm39) K421E probably damaging Het
Dzank1 T C 2: 144,348,098 (GRCm39) R223G probably damaging Het
Eps8l3 A G 3: 107,788,919 (GRCm39) T81A probably damaging Het
Esrra T C 19: 6,897,755 (GRCm39) M1V probably null Het
Evpl C A 11: 116,125,058 (GRCm39) A135S probably benign Het
Fam193a A G 5: 34,578,132 (GRCm39) I209V probably benign Het
Fbxl19 C A 7: 127,350,168 (GRCm39) C253* probably null Het
Fer1l5 T A 1: 36,424,539 (GRCm39) Y305* probably null Het
Fzd2 A C 11: 102,496,665 (GRCm39) I370L probably damaging Het
Gnl3 T C 14: 30,737,242 (GRCm39) K212R probably benign Het
Golm1 A G 13: 59,790,179 (GRCm39) L207P probably benign Het
Gphn T A 12: 78,538,818 (GRCm39) F155I probably damaging Het
Grhl1 G A 12: 24,659,739 (GRCm39) G500S probably benign Het
Gucd1 C A 10: 75,346,968 (GRCm39) G55V possibly damaging Het
Haus6 A T 4: 86,517,503 (GRCm39) I287K possibly damaging Het
Hmcn1 G A 1: 150,453,290 (GRCm39) P5342S probably benign Het
Hspa12a A G 19: 58,788,092 (GRCm39) S577P probably benign Het
Ido2 T A 8: 25,040,882 (GRCm39) I113F possibly damaging Het
Ifrd2 C T 9: 107,469,511 (GRCm39) P396S probably damaging Het
Igkv4-86 T A 6: 68,887,990 (GRCm39) probably benign Het
Ipo11 A G 13: 107,037,255 (GRCm39) V196A probably benign Het
Itih2 T C 2: 10,128,287 (GRCm39) E138G probably damaging Het
Kidins220 T G 12: 25,097,896 (GRCm39) C1179G probably benign Het
Kif20b T A 19: 34,927,128 (GRCm39) probably null Het
Klk1 T A 7: 43,878,238 (GRCm39) Y63N probably benign Het
L3mbtl3 T G 10: 26,179,604 (GRCm39) D517A unknown Het
Lars1 G T 18: 42,347,916 (GRCm39) P969H probably damaging Het
Lrp1 C T 10: 127,424,389 (GRCm39) V766I probably benign Het
Lrrc8c A G 5: 105,755,553 (GRCm39) I443V probably benign Het
Lsg1 T C 16: 30,387,985 (GRCm39) M439V probably null Het
Magi2 T A 5: 20,420,422 (GRCm39) M286K probably benign Het
Med11 T C 11: 70,342,891 (GRCm39) probably null Het
Med13l A G 5: 118,889,695 (GRCm39) K1819E possibly damaging Het
Ms4a14 T A 19: 11,280,590 (GRCm39) Q656L probably benign Het
Muc5b A G 7: 141,415,084 (GRCm39) T2677A possibly damaging Het
Myo7a A T 7: 97,722,367 (GRCm39) L1186H probably damaging Het
Naca C A 10: 127,876,462 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,281,761 (GRCm39) I828T probably benign Het
Ncor1 A T 11: 62,280,604 (GRCm39) C75* probably null Het
Nepn A C 10: 52,280,398 (GRCm39) S497R probably damaging Het
Nf2 A G 11: 4,753,689 (GRCm39) F222L probably damaging Het
Nlrp9b A C 7: 19,757,089 (GRCm39) T109P probably damaging Het
Nr1h4 A T 10: 89,352,302 (GRCm39) F22I probably benign Het
Ogg1 A G 6: 113,306,337 (GRCm39) Y178C probably damaging Het
Or1e22 G T 11: 73,377,036 (GRCm39) P205T probably benign Het
Or4b12 C A 2: 90,096,694 (GRCm39) V27L probably benign Het
Or5b119 T A 19: 13,456,791 (GRCm39) Y257F probably damaging Het
Or5b21 G A 19: 12,839,168 (GRCm39) V10M possibly damaging Het
Or5d14 A T 2: 87,880,668 (GRCm39) M100K possibly damaging Het
Osr1 G A 12: 9,629,325 (GRCm39) R66Q probably damaging Het
Pi4ka A G 16: 17,098,951 (GRCm39) S1978P probably damaging Het
Pik3c2g A T 6: 139,603,531 (GRCm39) Q239L probably damaging Het
Pin1rt1 A G 2: 104,544,670 (GRCm39) I154T probably damaging Het
Pkdcc A G 17: 83,527,511 (GRCm39) T230A probably damaging Het
Por A T 5: 135,762,675 (GRCm39) I430F probably damaging Het
Prb1c T C 6: 132,338,432 (GRCm39) N262S unknown Het
Prkcsh T A 9: 21,922,551 (GRCm39) probably null Het
Pros1 A G 16: 62,746,689 (GRCm39) probably null Het
Pus10 T A 11: 23,622,556 (GRCm39) L59I probably benign Het
Pxmp2 A G 5: 110,431,542 (GRCm39) V67A possibly damaging Het
Rab3gap1 C A 1: 127,858,727 (GRCm39) A612E probably benign Het
Rpap2 A G 5: 107,768,011 (GRCm39) E206G probably benign Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Ryr3 C T 2: 112,672,293 (GRCm39) G1393R probably damaging Het
Scara5 T C 14: 65,968,528 (GRCm39) M267T probably benign Het
Sema5a A T 15: 32,575,031 (GRCm39) I380F probably benign Het
Slc36a3 A G 11: 55,026,279 (GRCm39) S180P probably benign Het
Slc44a5 A G 3: 153,966,922 (GRCm39) K536R probably benign Het
Smg1 T C 7: 117,748,125 (GRCm39) probably benign Het
Spata31d1e A T 13: 59,890,070 (GRCm39) D583E probably benign Het
Strc T C 2: 121,205,493 (GRCm39) K879R probably damaging Het
Swt1 T C 1: 151,260,206 (GRCm39) E731G probably benign Het
Syngap1 G A 17: 27,181,305 (GRCm39) A9T probably damaging Het
Tex15 C T 8: 34,062,457 (GRCm39) T903I probably damaging Het
Tg A G 15: 66,557,149 (GRCm39) I937V possibly damaging Het
Tm9sf4 T C 2: 153,024,350 (GRCm39) Y58H probably damaging Het
Tsen2 A T 6: 115,554,941 (GRCm39) D458V probably damaging Het
Ttn T A 2: 76,748,146 (GRCm39) D4301V probably benign Het
Txk C A 5: 72,864,932 (GRCm39) L314F probably damaging Het
Ube3b A G 5: 114,553,384 (GRCm39) T919A probably benign Het
Ubn2 A G 6: 38,460,187 (GRCm39) M641V probably damaging Het
Usp4 C T 9: 108,243,058 (GRCm39) T242I probably benign Het
Usp53 A G 3: 122,727,883 (GRCm39) S900P probably benign Het
Vmn1r225 T C 17: 20,723,101 (GRCm39) Y181H probably damaging Het
Vmn1r83 T A 7: 12,055,800 (GRCm39) I86L probably benign Het
Vmn2r65 T C 7: 84,596,802 (GRCm39) I84M probably damaging Het
Vstm2b A G 7: 40,552,050 (GRCm39) H126R probably damaging Het
Zfp524 A T 7: 5,021,416 (GRCm39) I315F probably benign Het
Zfp975 A T 7: 42,314,513 (GRCm39) L20* probably null 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
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'- TACCAGATTCCTTGCTGCTGG -3'
(R):5'- AGAACTTCTTGCAGTGGGG -3'

Sequencing Primer
(F):5'- ATTCCGGGAAGCTGGCTC -3'
(R):5'- ACTTCTTGCAGTGGGGCTTCC -3'
Posted On 2016-10-26