Incidental Mutation 'R8299:Elovl2'
ID 639152
Institutional Source Beutler Lab
Gene Symbol Elovl2
Ensembl Gene ENSMUSG00000021364
Gene Name ELOVL fatty acid elongase 2
Synonyms Ssc2, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2
MMRRC Submission 067787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8299 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 41335858-41373879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41345396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 101 (N101D)
Ref Sequence ENSEMBL: ENSMUSP00000021793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021793] [ENSMUST00000117096]
AlphaFold Q9JLJ4
Predicted Effect probably benign
Transcript: ENSMUST00000021793
AA Change: N101D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021793
Gene: ENSMUSG00000021364
AA Change: N101D

DomainStartEndE-ValueType
Pfam:ELO 30 265 1.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117096
AA Change: N84D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114112
Gene: ENSMUSG00000021364
AA Change: N84D

DomainStartEndE-ValueType
Pfam:ELO 13 248 5.8e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice heterozygous for a knock-out allele exhibit reduced male fertility. Mice homozygous for a knock-out allele exhibit male infertility associated with arrested spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 C A 10: 69,811,981 (GRCm39) P1216Q probably damaging Het
Aspscr1 T C 11: 120,599,900 (GRCm39) Y164H Het
Atp13a3 A C 16: 30,152,619 (GRCm39) F1021C probably damaging Het
Bcl9 T C 3: 97,112,852 (GRCm39) D1201G probably damaging Het
Bora G A 14: 99,305,570 (GRCm39) R313Q probably benign Het
Cdh19 A G 1: 110,847,278 (GRCm39) Y444H probably benign Het
Cep70 A T 9: 99,144,914 (GRCm39) M87L possibly damaging Het
Clstn3 A G 6: 124,414,332 (GRCm39) probably null Het
Cntnap4 G A 8: 113,500,324 (GRCm39) G539S probably damaging Het
Csf2rb T A 15: 78,230,669 (GRCm39) Y471N possibly damaging Het
Dctn4 T A 18: 60,678,872 (GRCm39) I197N probably benign Het
Ednrb A G 14: 104,060,936 (GRCm39) L163P probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etl4 T A 2: 20,748,874 (GRCm39) I404K possibly damaging Het
Gadd45a A G 6: 67,014,183 (GRCm39) probably null Het
Gfod2 T C 8: 106,454,794 (GRCm39) T29A probably benign Het
Hltf A G 3: 20,136,986 (GRCm39) K408E possibly damaging Het
Inf2 A G 12: 112,570,546 (GRCm39) T362A probably benign Het
Klhl12 G A 1: 134,416,678 (GRCm39) G467R probably damaging Het
Lrrk2 A T 15: 91,557,443 (GRCm39) probably benign Het
Mcee G A 7: 64,061,621 (GRCm39) E29K unknown Het
Mki67 A T 7: 135,306,349 (GRCm39) I571N probably damaging Het
Morc3 T C 16: 93,650,088 (GRCm39) Y290H probably damaging Het
Mtcl2 T G 2: 156,862,651 (GRCm39) E1426A possibly damaging Het
Muc4 A G 16: 32,576,271 (GRCm39) T1924A unknown Het
Myh14 T A 7: 44,276,472 (GRCm39) D1170V probably damaging Het
Or10al5 G T 17: 38,062,891 (GRCm39) E49* probably null Het
Or51a6 T C 7: 102,604,739 (GRCm39) E30G probably damaging Het
Or55b4 T C 7: 102,133,409 (GRCm39) H306R probably benign Het
Or6c66 T C 10: 129,461,829 (GRCm39) I34V probably benign Het
Pcdhb17 T C 18: 37,618,408 (GRCm39) I66T probably damaging Het
Pkhd1l1 T C 15: 44,445,330 (GRCm39) V3734A probably benign Het
Plcb1 T C 2: 135,177,396 (GRCm39) L576P probably damaging Het
Plxnc1 T A 10: 94,663,041 (GRCm39) N1203Y probably benign Het
Pramel16 T C 4: 143,677,327 (GRCm39) N84S probably benign Het
Prkn T G 17: 11,456,408 (GRCm39) S77R probably benign Het
Rev3l C T 10: 39,697,537 (GRCm39) S678L probably benign Het
Rims3 T C 4: 120,746,569 (GRCm39) Y197H probably damaging Het
S1pr4 A G 10: 81,335,267 (GRCm39) M69T probably benign Het
Sf3a1 T C 11: 4,129,420 (GRCm39) Y757H possibly damaging Het
Slc30a9 T A 5: 67,484,248 (GRCm39) N128K probably damaging Het
Slc35a4 T C 18: 36,815,980 (GRCm39) V270A possibly damaging Het
Speg A C 1: 75,364,480 (GRCm39) D287A possibly damaging Het
St18 T C 1: 6,873,216 (GRCm39) V317A probably benign Het
Stk11 G T 10: 79,963,867 (GRCm39) E350D probably benign Het
Strn3 A G 12: 51,694,890 (GRCm39) L291S probably damaging Het
Susd1 C T 4: 59,315,773 (GRCm39) V733I probably benign Het
Tep1 T C 14: 51,105,502 (GRCm39) R173G probably benign Het
Tmem115 T C 9: 107,411,745 (GRCm39) V23A possibly damaging Het
Top2b A G 14: 16,386,123 (GRCm38) N110D possibly damaging Het
Wfikkn2 C T 11: 94,129,890 (GRCm39) V84M probably damaging Het
Other mutations in Elovl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Elovl2 APN 13 41,338,790 (GRCm39) missense probably benign 0.01
IGL01769:Elovl2 APN 13 41,340,420 (GRCm39) missense probably damaging 1.00
IGL02514:Elovl2 APN 13 41,348,247 (GRCm39) missense probably benign 0.00
R0542:Elovl2 UTSW 13 41,345,452 (GRCm39) splice site probably benign
R0765:Elovl2 UTSW 13 41,340,942 (GRCm39) missense probably benign 0.17
R1076:Elovl2 UTSW 13 41,343,583 (GRCm39) missense possibly damaging 0.83
R5562:Elovl2 UTSW 13 41,338,772 (GRCm39) makesense probably null
R7860:Elovl2 UTSW 13 41,340,943 (GRCm39) missense probably benign 0.04
R9000:Elovl2 UTSW 13 41,338,810 (GRCm39) missense probably benign 0.00
Z1177:Elovl2 UTSW 13 41,343,454 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCACCCGGTCGTTTCTCAG -3'
(R):5'- CACTGTGAGTGGTGATCCCTTG -3'

Sequencing Primer
(F):5'- TCAGACATGGGCATCTCTAAGTC -3'
(R):5'- CAAAACTGGGTCTGATTCGGGAC -3'
Posted On 2020-07-28