Incidental Mutation 'R2425:Elane'
ID 250157
Institutional Source Beutler Lab
Gene Symbol Elane
Ensembl Gene ENSMUSG00000020125
Gene Name elastase, neutrophil expressed
Synonyms NE, F430011M15Rik, Ela2
MMRRC Submission 040387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R2425 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79722146-79724050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79723610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 192 (R192C)
Ref Sequence ENSEMBL: ENSMUSP00000038925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006679] [ENSMUST00000046091] [ENSMUST00000061653] [ENSMUST00000217837]
AlphaFold Q3UP87
Predicted Effect probably benign
Transcript: ENSMUST00000006679
SMART Domains Protein: ENSMUSP00000006679
Gene: ENSMUSG00000057729

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Tryp_SPc 29 245 2.1e-77 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046091
AA Change: R192C

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000038925
Gene: ENSMUSG00000020125
AA Change: R192C

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Tryp_SPc 28 242 3.74e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000061653
SMART Domains Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780

DomainStartEndE-ValueType
Tryp_SPc 25 249 8.25e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165982
Predicted Effect probably benign
Transcript: ENSMUST00000166201
SMART Domains Protein: ENSMUSP00000129585
Gene: ENSMUSG00000057729

DomainStartEndE-ValueType
Tryp_SPc 5 125 1.26e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218521
Predicted Effect probably benign
Transcript: ENSMUST00000217837
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the chymotrypsin-like family of serine protease enzymes that hydrolyzes a broad range of protein substrates including elastin. This gene is expressed by neutrophils where the encoded enzyme is stored in azurophil granules. Upon neutrophil activation, the active enzyme is released into the extracellular mileu. Mice lacking the encoded protein exhibit increased susceptibility to sepsis and death following intraperitoneal infection with Gram negative bacteria. This gene is located adjacent to a related proteinase gene on chromosome 10. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show impaired neutrophil physiology, susceptibility to Gram (-) bacterial infection, reduced sensitivity to xenobiotics, and abnormal local Shwartzman responses. Homozygotes for a knock-in allele show susceptibility to fungal infection and resistance to endotoxic shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,959,033 (GRCm39) F621S probably damaging Het
Abcc10 A G 17: 46,621,083 (GRCm39) Y976H probably damaging Het
Abhd6 T A 14: 8,049,857 (GRCm38) N215K probably benign Het
Adcy4 T C 14: 56,015,474 (GRCm39) T479A probably damaging Het
Amacr A G 15: 10,983,454 (GRCm39) Q88R possibly damaging Het
Ankrd11 T A 8: 123,619,902 (GRCm39) I1317F possibly damaging Het
Ano3 C A 2: 110,693,188 (GRCm39) A137S probably benign Het
Astn1 T G 1: 158,407,236 (GRCm39) S562A probably damaging Het
Cd44 T A 2: 102,691,931 (GRCm39) Y119F probably damaging Het
CN725425 A C 15: 91,130,058 (GRCm39) D307A probably damaging Het
Col12a1 T C 9: 79,585,648 (GRCm39) Y1243C probably damaging Het
Cyp2c50 T C 19: 40,078,292 (GRCm39) I50T probably benign Het
Dhrs9 A G 2: 69,223,308 (GRCm39) K19E probably benign Het
Dnajb14 T G 3: 137,598,666 (GRCm39) F135V probably null Het
Draxin T A 4: 148,197,213 (GRCm39) T195S possibly damaging Het
Fam171a2 A C 11: 102,329,187 (GRCm39) I524S possibly damaging Het
Fbxo10 C T 4: 45,051,642 (GRCm39) E490K possibly damaging Het
Fkbp15 T C 4: 62,230,602 (GRCm39) T704A probably benign Het
Fndc1 T A 17: 8,023,850 (GRCm39) D35V probably damaging Het
Galntl5 A G 5: 25,425,079 (GRCm39) K366E probably damaging Het
Gas7 G A 11: 67,534,121 (GRCm39) A74T probably benign Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gldc T A 19: 30,109,190 (GRCm39) N583Y probably damaging Het
Gpr161 T A 1: 165,138,192 (GRCm39) S259R possibly damaging Het
Igfn1 T A 1: 135,890,840 (GRCm39) T2387S probably damaging Het
Il3 A T 11: 54,156,375 (GRCm39) V119D possibly damaging Het
Ints3 T C 3: 90,301,417 (GRCm39) T822A possibly damaging Het
Jakmip1 C T 5: 37,299,149 (GRCm39) Q790* probably null Het
Kcne1 A G 16: 92,145,646 (GRCm39) I66T probably damaging Het
Nipbl A G 15: 8,380,966 (GRCm39) S609P probably benign Het
Or10d5 T C 9: 39,861,137 (GRCm39) E310G probably null Het
Or2t48 A G 11: 58,420,137 (GRCm39) I225T probably damaging Het
Or8k21 A G 2: 86,144,739 (GRCm39) V297A probably damaging Het
Pdxdc1 A T 16: 13,697,372 (GRCm39) S103T possibly damaging Het
Pla2g2a C A 4: 138,560,229 (GRCm39) A24E possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pramel1 T G 4: 143,125,036 (GRCm39) L320R probably damaging Het
Rad23b T A 4: 55,385,438 (GRCm39) I325N probably damaging Het
Rasgrp1 C G 2: 117,119,931 (GRCm39) probably null Het
Rbm12b1 T A 4: 12,146,443 (GRCm39) I805N probably damaging Het
Shld2 A G 14: 33,990,646 (GRCm39) S87P probably damaging Het
Slc12a9 G T 5: 137,313,859 (GRCm39) A700E probably damaging Het
Tbc1d24 A T 17: 24,404,982 (GRCm39) V54E probably damaging Het
Tmc8 A G 11: 117,683,395 (GRCm39) D650G probably damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Ush2a T A 1: 188,270,001 (GRCm39) N1749K possibly damaging Het
Usp42 T C 5: 143,701,594 (GRCm39) T810A probably benign Het
Wdr70 C A 15: 7,916,840 (GRCm39) E526* probably null Het
Zfp935 G T 13: 62,602,922 (GRCm39) Q93K probably benign Het
Other mutations in Elane
AlleleSourceChrCoordTypePredicted EffectPPH Score
Ruo UTSW 10 79,722,942 (GRCm39) missense probably damaging 1.00
R0167:Elane UTSW 10 79,722,933 (GRCm39) splice site probably null
R0639:Elane UTSW 10 79,722,183 (GRCm39) missense possibly damaging 0.53
R0837:Elane UTSW 10 79,722,942 (GRCm39) missense probably damaging 1.00
R2001:Elane UTSW 10 79,723,593 (GRCm39) missense possibly damaging 0.90
R4751:Elane UTSW 10 79,722,625 (GRCm39) missense probably benign 0.00
R5359:Elane UTSW 10 79,722,870 (GRCm39) missense probably damaging 1.00
R6027:Elane UTSW 10 79,722,852 (GRCm39) missense probably damaging 1.00
R7565:Elane UTSW 10 79,722,879 (GRCm39) missense probably benign 0.45
R9462:Elane UTSW 10 79,723,883 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- CTTCCACTGTAGCTCAATGGC -3'
(R):5'- CAAGGTTGTTACAGACCAAGGG -3'

Sequencing Primer
(F):5'- ATGGCTCCGCTACCATTAACG -3'
(R):5'- AAGGGTCCGCCAGAGTC -3'
Posted On 2014-11-12