Incidental Mutation 'R1667:Ece2'
ID 187319
Institutional Source Beutler Lab
Gene Symbol Ece2
Ensembl Gene ENSMUSG00000022842
Gene Name endothelin converting enzyme 2
Synonyms 9630025D12Rik, 6330509A19Rik, 1810009K13Rik
MMRRC Submission 039703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1667 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 20448601-20464665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20456588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 330 (S330P)
Ref Sequence ENSEMBL: ENSMUSP00000114039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003898] [ENSMUST00000079600] [ENSMUST00000120394] [ENSMUST00000122306] [ENSMUST00000133344]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003898
AA Change: S330P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: S330P

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
Pfam:Peptidase_M13_N 115 500 8.3e-125 PFAM
Pfam:Peptidase_M13 559 762 1.1e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079600
AA Change: S448P

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: S448P

DomainStartEndE-ValueType
Pfam:Methyltransf_11 63 158 8.5e-8 PFAM
transmembrane domain 179 201 N/A INTRINSIC
Pfam:Peptidase_M13_N 233 618 1.2e-124 PFAM
Pfam:Peptidase_M13 677 880 1.4e-66 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120394
AA Change: S477P

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: S477P

DomainStartEndE-ValueType
Pfam:Methyltransf_18 58 163 1.2e-8 PFAM
Pfam:Methyltransf_11 63 163 1.7e-9 PFAM
transmembrane domain 208 230 N/A INTRINSIC
Pfam:Peptidase_M13_N 262 647 5e-109 PFAM
Pfam:Peptidase_M13 706 909 9.4e-75 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122306
AA Change: S330P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: S330P

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
Pfam:Peptidase_M13_N 115 500 6.9e-125 PFAM
Pfam:Peptidase_M13 559 709 6e-50 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000125971
AA Change: S90P
SMART Domains Protein: ENSMUSP00000120239
Gene: ENSMUSG00000022842
AA Change: S90P

DomainStartEndE-ValueType
Pfam:Peptidase_M13_N 1 261 1.3e-71 PFAM
Pfam:Peptidase_M13 320 482 3.4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133344
AA Change: S301P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842
AA Change: S301P

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Pfam:Peptidase_M13_N 86 471 7.5e-125 PFAM
Pfam:Peptidase_M13 530 733 1e-66 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000121231
Gene: ENSMUSG00000022842
AA Change: S391P

DomainStartEndE-ValueType
Pfam:Methyltransf_18 2 105 1.1e-8 PFAM
Pfam:Methyltransf_11 7 103 1.7e-9 PFAM
transmembrane domain 123 145 N/A INTRINSIC
Pfam:Peptidase_M13_N 177 562 4e-109 PFAM
Pfam:Peptidase_M13 621 824 8e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231739
Meta Mutation Damage Score 0.0899 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (76/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M13 family, which includes type 2 integral membrane metallopeptidases. The encoded enzyme is a membrane-bound zinc-dependent metalloprotease. The enzyme catalyzes the cleavage of big endothelin to produce the vasoconstrictor endothelin-1, and plays a role in the processing of several neuroendocrine peptides. It may also have methyltransferase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous mutant mice develop normally, are viable and healthy, and exhibit normal fertility in both sexes, as well as a normal life span. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,425,564 (GRCm39) A26T possibly damaging Het
Adgrg3 T A 8: 95,760,001 (GRCm39) Y73* probably null Het
Alk A T 17: 72,218,562 (GRCm39) V761E probably damaging Het
Ankrd13a T C 5: 114,924,794 (GRCm39) V93A possibly damaging Het
Anks1b T C 10: 90,347,046 (GRCm39) probably null Het
Arb2a T A 13: 77,907,635 (GRCm39) M1K probably null Het
Ascl1 T C 10: 87,328,655 (GRCm39) N99S probably benign Het
Atm A T 9: 53,412,232 (GRCm39) L972Q probably damaging Het
Atp2c1 A T 9: 105,309,996 (GRCm39) L566Q probably null Het
Bank1 T A 3: 135,799,057 (GRCm39) Y629F probably damaging Het
Bod1l G T 5: 41,974,118 (GRCm39) L2399I probably benign Het
Bub1b G A 2: 118,471,670 (GRCm39) G1010D probably benign Het
Ces1b G A 8: 93,783,532 (GRCm39) H563Y possibly damaging Het
Cfap70 T C 14: 20,454,225 (GRCm39) E853G probably benign Het
Cfh T C 1: 140,033,261 (GRCm39) E779G probably benign Het
Cox7c A G 13: 86,194,003 (GRCm39) S7P probably benign Het
Cyp2c67 A G 19: 39,632,034 (GRCm39) probably null Het
Dhx30 G T 9: 109,914,513 (GRCm39) L995I possibly damaging Het
Dhx30 G C 9: 109,914,514 (GRCm39) N957K possibly damaging Het
Dsc3 T C 18: 20,124,617 (GRCm39) T36A possibly damaging Het
Dstyk A G 1: 132,384,657 (GRCm39) D717G probably damaging Het
Dusp10 A G 1: 183,769,055 (GRCm39) D7G probably damaging Het
E230001N04Rik T G 17: 28,742,935 (GRCm39) noncoding transcript Het
Frmd5 ATAGTGGAATTGTTCAAACTC ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC 2: 121,379,211 (GRCm39) probably null Het
Gata3 T C 2: 9,882,360 (GRCm39) H14R possibly damaging Het
Ggta1 T A 2: 35,304,295 (GRCm39) I75F possibly damaging Het
Hcn1 A T 13: 117,739,609 (GRCm39) I124F unknown Het
Herpud1 A C 8: 95,115,994 (GRCm39) D53A probably damaging Het
Inhba T A 13: 16,201,209 (GRCm39) L257Q possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Jmy T A 13: 93,634,878 (GRCm39) S313C probably damaging Het
Lpo G A 11: 87,698,067 (GRCm39) probably benign Het
Lsg1 T C 16: 30,390,170 (GRCm39) E315G probably damaging Het
Lsm14a T A 7: 34,065,079 (GRCm39) T167S possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k2 T C 18: 32,336,845 (GRCm39) probably benign Het
Mapk12 A T 15: 89,024,344 (GRCm39) M81K probably damaging Het
Matn2 T A 15: 34,378,878 (GRCm39) C305S probably damaging Het
Mgam T C 6: 40,653,978 (GRCm39) Y844H possibly damaging Het
Mgat5b A G 11: 116,838,203 (GRCm39) R281G probably benign Het
Mon1b T G 8: 114,368,589 (GRCm39) C497G probably damaging Het
Mybbp1a A T 11: 72,336,043 (GRCm39) H452L probably benign Het
Mybl2 A G 2: 162,917,616 (GRCm39) T41A probably damaging Het
Ncoa5 A G 2: 164,843,623 (GRCm39) V540A probably damaging Het
Nup93 T A 8: 95,019,315 (GRCm39) V47E possibly damaging Het
Or10a4 A T 7: 106,696,977 (GRCm39) M102L probably benign Het
Or5j3 A G 2: 86,129,080 (GRCm39) M307V probably null Het
Orc6 T A 8: 86,031,914 (GRCm39) C100S possibly damaging Het
Otogl G T 10: 107,649,826 (GRCm39) Y1176* probably null Het
Patj A T 4: 98,301,264 (GRCm39) D183V probably damaging Het
Pik3r3 A G 4: 116,079,514 (GRCm39) T4A probably damaging Het
Pla2g4d G A 2: 120,100,631 (GRCm39) probably benign Het
Pla2r1 A G 2: 60,250,601 (GRCm39) I1407T probably benign Het
Pramel13 A T 4: 144,119,606 (GRCm39) C320* probably null Het
Prex2 A T 1: 11,256,981 (GRCm39) H1231L probably benign Het
Prkca A G 11: 107,874,772 (GRCm39) V390A probably damaging Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rec8 T A 14: 55,856,253 (GRCm39) N37K probably damaging Het
Rnf207 C T 4: 152,397,672 (GRCm39) E361K probably benign Het
Serpina3f T A 12: 104,183,699 (GRCm39) L187Q probably damaging Het
Skint11 A T 4: 114,051,978 (GRCm39) T109S probably damaging Het
Slc7a8 A G 14: 54,962,306 (GRCm39) S443P probably damaging Het
Slc8b1 T A 5: 120,659,147 (GRCm39) F197Y probably benign Het
Sox2 T C 3: 34,704,568 (GRCm39) Y2H probably damaging Het
Speg T A 1: 75,387,193 (GRCm39) probably benign Het
Tlr3 T C 8: 45,853,874 (GRCm39) N149D probably benign Het
Trim60 A C 8: 65,454,116 (GRCm39) D44E probably benign Het
Ugt1a7c A G 1: 88,023,657 (GRCm39) Y272C probably damaging Het
Vmn1r4 T A 6: 56,933,738 (GRCm39) Y81N probably damaging Het
Vmn2r73 A T 7: 85,506,889 (GRCm39) C808S probably benign Het
Ythdf3 T C 3: 16,259,056 (GRCm39) I412T possibly damaging Het
Zfp672 T C 11: 58,206,921 (GRCm39) T467A possibly damaging Het
Zfp985 A T 4: 147,668,407 (GRCm39) Q425L possibly damaging Het
Other mutations in Ece2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Ece2 APN 16 20,451,544 (GRCm39) missense possibly damaging 0.88
IGL01644:Ece2 APN 16 20,436,616 (GRCm39) missense possibly damaging 0.93
IGL02414:Ece2 APN 16 20,459,456 (GRCm39) missense probably damaging 1.00
IGL02754:Ece2 APN 16 20,451,398 (GRCm39) missense probably damaging 1.00
IGL03368:Ece2 APN 16 20,462,908 (GRCm39) missense possibly damaging 0.95
IGL03383:Ece2 APN 16 20,451,847 (GRCm39) missense possibly damaging 0.90
R0063:Ece2 UTSW 16 20,461,067 (GRCm39) missense probably benign
R0063:Ece2 UTSW 16 20,461,067 (GRCm39) missense probably benign
R0750:Ece2 UTSW 16 20,451,800 (GRCm39) missense probably benign 0.00
R1304:Ece2 UTSW 16 20,430,532 (GRCm39) missense probably damaging 1.00
R1500:Ece2 UTSW 16 20,462,992 (GRCm39) missense probably damaging 1.00
R1539:Ece2 UTSW 16 20,461,263 (GRCm39) missense probably damaging 1.00
R1702:Ece2 UTSW 16 20,449,996 (GRCm39) missense probably damaging 0.99
R1903:Ece2 UTSW 16 20,463,922 (GRCm39) missense probably damaging 0.99
R1937:Ece2 UTSW 16 20,436,616 (GRCm39) missense probably damaging 0.99
R2014:Ece2 UTSW 16 20,461,067 (GRCm39) missense probably benign
R4393:Ece2 UTSW 16 20,451,598 (GRCm39) missense probably damaging 1.00
R4678:Ece2 UTSW 16 20,459,468 (GRCm39) missense probably damaging 1.00
R4839:Ece2 UTSW 16 20,449,918 (GRCm39) missense probably damaging 1.00
R4857:Ece2 UTSW 16 20,436,556 (GRCm39) missense probably damaging 1.00
R4871:Ece2 UTSW 16 20,462,905 (GRCm39) missense probably damaging 1.00
R4903:Ece2 UTSW 16 20,449,972 (GRCm39) nonsense probably null
R4914:Ece2 UTSW 16 20,462,820 (GRCm39) missense probably damaging 1.00
R5119:Ece2 UTSW 16 20,437,381 (GRCm39) missense probably damaging 0.98
R5218:Ece2 UTSW 16 20,437,290 (GRCm39) missense probably benign 0.06
R5642:Ece2 UTSW 16 20,462,477 (GRCm39) missense probably benign 0.42
R5911:Ece2 UTSW 16 20,457,510 (GRCm39) missense probably damaging 1.00
R6037:Ece2 UTSW 16 20,449,112 (GRCm39) missense probably damaging 1.00
R6037:Ece2 UTSW 16 20,449,112 (GRCm39) missense probably damaging 1.00
R6253:Ece2 UTSW 16 20,457,932 (GRCm39) missense probably damaging 1.00
R8159:Ece2 UTSW 16 20,430,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGGGGCTTTCACAGGTTCTCAC -3'
(R):5'- TTCATGTAGTCCGGGGCAACAAG -3'

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