Incidental Mutation 'R1076:Elovl2'
ID 85663
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 039162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1076 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41335858-41373879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41343583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 115 (V115A)
Ref Sequence ENSEMBL: ENSMUSP00000021793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021793] [ENSMUST00000117096]
AlphaFold Q9JLJ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000021793
AA Change: V115A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021793
Gene: ENSMUSG00000021364
AA Change: V115A

DomainStartEndE-ValueType
Pfam:ELO 30 265 1.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117096
AA Change: V98A

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114112
Gene: ENSMUSG00000021364
AA Change: V98A

DomainStartEndE-ValueType
Pfam:ELO 13 248 5.8e-67 PFAM
Meta Mutation Damage Score 0.0760 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency 100% (39/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,759 (GRCm39) K63R probably damaging Het
Ankrd50 T C 3: 38,509,071 (GRCm39) N176D probably damaging Het
Apbb1 A T 7: 105,223,062 (GRCm39) L183Q probably benign Het
Cdh17 T C 4: 11,795,581 (GRCm39) V387A probably benign Het
Cldn4 A G 5: 134,975,191 (GRCm39) S137P probably damaging Het
Cnn1 A T 9: 22,019,165 (GRCm39) Q157L probably damaging Het
Csn1s1 A T 5: 87,824,242 (GRCm39) probably null Het
Dennd3 C T 15: 73,412,582 (GRCm39) H415Y probably damaging Het
Dnpep A G 1: 75,292,582 (GRCm39) probably benign Het
Dram1 C A 10: 88,161,246 (GRCm39) V208L probably damaging Het
Fryl C T 5: 73,282,016 (GRCm39) probably benign Het
Gsap A G 5: 21,492,692 (GRCm39) T707A possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ktn1 T A 14: 47,932,095 (GRCm39) M674K probably damaging Het
Larp4 A G 15: 99,895,311 (GRCm39) T295A probably benign Het
Lrp1 T C 10: 127,399,666 (GRCm39) probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Macf1 T C 4: 123,279,391 (GRCm39) D3870G probably damaging Het
Mctp2 T G 7: 71,835,615 (GRCm39) probably null Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Neb A G 2: 52,094,904 (GRCm39) Y4883H probably damaging Het
Nsun6 A T 2: 15,014,283 (GRCm39) C286S probably benign Het
Pabpc4 T A 4: 123,186,701 (GRCm39) D307E possibly damaging Het
Pik3cg G A 12: 32,245,713 (GRCm39) probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Serpina3k A G 12: 104,307,253 (GRCm39) T162A probably benign Het
Sis T C 3: 72,841,431 (GRCm39) T795A probably damaging Het
Skint8 T A 4: 111,784,416 (GRCm39) V14E probably damaging Het
Slc2a1 T G 4: 118,991,645 (GRCm39) M351R probably damaging Het
Slc41a3 G A 6: 90,621,142 (GRCm39) C394Y probably benign Het
Srp54b T C 12: 55,302,313 (GRCm39) probably benign Het
Ulk2 G A 11: 61,710,135 (GRCm39) H358Y probably damaging Het
Utp20 A T 10: 88,608,405 (GRCm39) I1544N possibly damaging Het
Utp20 A G 10: 88,608,321 (GRCm39) M1572T probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L 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
R5562:Elovl2 UTSW 13 41,338,772 (GRCm39) makesense probably null
R7860:Elovl2 UTSW 13 41,340,943 (GRCm39) missense probably benign 0.04
R8299:Elovl2 UTSW 13 41,345,396 (GRCm39) missense probably benign 0.00
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'- GGTCTTGCTCAGGTTTTGCCAAC -3'
(R):5'- TTTGGGAAAGACGCCATCCTGC -3'

Sequencing Primer
(F):5'- CTGCGGTGACACGACTTTAG -3'
(R):5'- GCCATCCTGCCTTGAGAG -3'
Posted On 2013-11-18