Incidental Mutation 'R5642:Ece2'
ID 440790
Institutional Source Beutler Lab
Gene Symbol Ece2
Ensembl Gene ENSMUSG00000022842
Gene Name endothelin converting enzyme 2
Synonyms 9630025D12Rik, 6330509A19Rik, 1810009K13Rik
MMRRC Submission 043290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5642 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 20448601-20464665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20462477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 732 (H732L)
Ref Sequence ENSEMBL: ENSMUSP00000113475 (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: H585L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: H585L

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: H703L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: H703L

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 probably benign
Transcript: ENSMUST00000120394
AA Change: H732L

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: H732L

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 probably benign
Transcript: ENSMUST00000122306
AA Change: H585L

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: H585L

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: H345L
SMART Domains Protein: ENSMUSP00000120239
Gene: ENSMUSG00000022842
AA Change: H345L

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: H556L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842
AA Change: H556L

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: H646L

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: ENSMUST00000231739
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,261,319 (GRCm39) E699G probably damaging Het
Ap4e1 T A 2: 126,906,899 (GRCm39) V1053D possibly damaging Het
Apobec1 T A 6: 122,558,456 (GRCm39) I100F probably damaging Het
Atp6v1g3 G T 1: 138,211,480 (GRCm39) K53N probably damaging Het
Bag3 C T 7: 128,147,830 (GRCm39) R482W probably damaging Het
Brme1 C T 8: 84,894,114 (GRCm39) T427I probably damaging Het
Cacna1i A G 15: 80,279,279 (GRCm39) T2007A possibly damaging Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdadc1 T A 14: 59,827,372 (GRCm39) I100F possibly damaging Het
Cdh16 A G 8: 105,344,677 (GRCm39) F485L probably damaging Het
Cdhr5 T A 7: 140,849,110 (GRCm39) K817* probably null Het
Cfap46 G T 7: 139,258,493 (GRCm39) P260Q probably damaging Het
Clec11a C T 7: 43,955,832 (GRCm39) E72K possibly damaging Het
Cnr2 C A 4: 135,644,076 (GRCm39) N51K probably damaging Het
Col3a1 T A 1: 45,370,872 (GRCm39) probably benign Het
Cxcr1 G A 1: 74,230,987 (GRCm39) T345M probably damaging Het
Cyp2s1 T C 7: 25,515,744 (GRCm39) probably null Het
Dalrd3 C T 9: 108,449,489 (GRCm39) T474M probably damaging Het
Ddit4 C T 10: 59,787,327 (GRCm39) S3N probably benign Het
Ddx41 T C 13: 55,683,708 (GRCm39) K108E possibly damaging Het
Dnaaf10 A G 11: 17,177,263 (GRCm39) N207S possibly damaging Het
Etv3 T G 3: 87,443,322 (GRCm39) L302R possibly damaging Het
Fam135b A G 15: 71,333,985 (GRCm39) S1070P probably damaging Het
Fhip1b A T 7: 105,039,089 (GRCm39) I50N probably damaging Het
Gm11567 T A 11: 99,770,437 (GRCm39) I125N unknown Het
Grm3 A G 5: 9,620,536 (GRCm39) L236P probably benign Het
Hip1 T A 5: 135,461,939 (GRCm39) R97* probably null Het
Hoxa5 T C 6: 52,181,197 (GRCm39) Y45C probably damaging Het
Ighg1 T A 12: 113,292,654 (GRCm39) H305L probably damaging Het
Inpp5b T A 4: 124,676,229 (GRCm39) C362S probably benign Het
Kif1c A G 11: 70,599,273 (GRCm39) K391E probably benign Het
Klf9 T C 19: 23,119,246 (GRCm39) V43A probably benign Het
Krt28 T A 11: 99,265,320 (GRCm39) I116F probably damaging Het
Lct A T 1: 128,222,969 (GRCm39) D1439E probably damaging Het
Liph G A 16: 21,784,745 (GRCm39) T284M possibly damaging Het
Lrrc75b T C 10: 75,393,055 (GRCm39) K98R possibly damaging Het
Lypd4 T C 7: 24,564,604 (GRCm39) Q178R probably benign Het
Map1a T A 2: 121,136,524 (GRCm39) S2209T probably damaging Het
Map3k21 C T 8: 126,665,563 (GRCm39) T584I probably benign Het
Map3k6 T C 4: 132,972,855 (GRCm39) V338A probably damaging Het
Mapk8ip3 A T 17: 25,122,285 (GRCm39) V699E possibly damaging Het
Mtarc1 A C 1: 184,543,116 (GRCm39) S71A probably damaging Het
Nckap1l T C 15: 103,363,452 (GRCm39) S53P probably benign Het
Nt5e T C 9: 88,209,740 (GRCm39) M1T probably null Het
Nudt22 T C 19: 6,972,896 (GRCm39) H64R probably damaging Het
Or1o11 A T 17: 37,756,663 (GRCm39) T84S probably damaging Het
Or2t44 A T 11: 58,677,654 (GRCm39) Y198F probably damaging Het
Or2w3 T C 11: 58,557,225 (GRCm39) I280T possibly damaging Het
Or52b1 A T 7: 104,978,772 (GRCm39) V209D probably damaging Het
Or5ac16 A G 16: 59,022,369 (GRCm39) L140P probably damaging Het
Or8k17 T C 2: 86,066,276 (GRCm39) N294S probably damaging Het
Otogl T C 10: 107,722,413 (GRCm39) I314V probably benign Het
Pan2 G T 10: 128,143,969 (GRCm39) E106D probably benign Het
Papss1 T A 3: 131,337,565 (GRCm39) Y554* probably null Het
Pcnx1 T C 12: 81,941,803 (GRCm39) V67A possibly damaging Het
Pdpk1 A C 17: 24,325,829 (GRCm39) Y122* probably null Het
Pkd1l1 A T 11: 8,829,202 (GRCm39) N1463K probably damaging Het
Ptgfrn C A 3: 100,950,678 (GRCm39) M878I probably damaging Het
Ranbp3 G A 17: 57,017,703 (GRCm39) G453E probably benign Het
Rapgef2 T C 3: 79,002,157 (GRCm39) D261G probably damaging Het
Reep2 A G 18: 34,979,271 (GRCm39) S199G probably benign Het
Rnpep G A 1: 135,205,259 (GRCm39) T202I probably damaging Het
Sass6 T A 3: 116,401,145 (GRCm39) probably null Het
Sema3e A G 5: 14,212,257 (GRCm39) D111G probably damaging Het
Slc29a4 A G 5: 142,697,727 (GRCm39) E60G probably damaging Het
Spata31g1 T C 4: 42,971,831 (GRCm39) L388P possibly damaging Het
Spata31h1 T A 10: 82,120,317 (GRCm39) Q4231L probably damaging Het
Sptlc3 T C 2: 139,388,328 (GRCm39) Y107H probably damaging Het
Stx6 T C 1: 155,073,925 (GRCm39) I245T probably benign Het
Syne2 T C 12: 75,965,306 (GRCm39) S774P probably damaging Het
Tbc1d16 T A 11: 119,049,617 (GRCm39) Q293L probably damaging Het
Tbc1d30 T C 10: 121,132,692 (GRCm39) D224G probably damaging Het
Tbc1d32 T A 10: 56,026,973 (GRCm39) N759Y possibly damaging Het
Tdrd12 G T 7: 35,210,725 (GRCm39) A166E probably damaging Het
Tex14 A G 11: 87,405,046 (GRCm39) R653G probably benign Het
Them6 A T 15: 74,593,654 (GRCm39) R171W probably null Het
Tln2 T C 9: 67,203,640 (GRCm39) T489A probably benign Het
Tmem87a A G 2: 120,234,427 (GRCm39) F39L probably benign Het
Toporsl T A 4: 52,611,515 (GRCm39) C469* probably null Het
Tpr T C 1: 150,299,569 (GRCm39) S1147P probably damaging Het
Trp53bp1 T C 2: 121,067,143 (GRCm39) M528V probably benign Het
Trpm6 T A 19: 18,807,571 (GRCm39) C1039S probably damaging Het
Ttc16 T A 2: 32,665,348 (GRCm39) S5C probably damaging Het
Ttn T C 2: 76,617,412 (GRCm39) Y14607C probably damaging Het
Usp6nl T C 2: 6,435,275 (GRCm39) F345L probably damaging Het
Vmn1r205 C T 13: 22,776,206 (GRCm39) G299R probably benign Het
Vmn2r74 G A 7: 85,606,588 (GRCm39) H253Y probably benign Het
Vps13d A T 4: 144,896,872 (GRCm39) D343E possibly damaging Het
Vwf A G 6: 125,580,381 (GRCm39) E543G Het
Zfat A T 15: 68,052,765 (GRCm39) V343E probably damaging Het
Zfp316 T C 5: 143,249,846 (GRCm39) E139G unknown Het
Zfp943 T A 17: 22,211,813 (GRCm39) C300S probably damaging Het
Zkscan16 A G 4: 58,957,748 (GRCm39) K677E probably benign 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
R1667:Ece2 UTSW 16 20,456,588 (GRCm39) missense possibly damaging 0.78
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
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'- TCAAGGCCCTTGAAGGAGAC -3'
(R):5'- ATTCTAGAATGGGCCCCTACC -3'

Sequencing Primer
(F):5'- CCCTTGAAGGAGACAGGCAG -3'
(R):5'- CCTTGGTCATCAAAGGCATG -3'
Posted On 2016-11-08