Incidental Mutation 'R6605:Defa5'
ID 525598
Institutional Source Beutler Lab
Gene Symbol Defa5
Ensembl Gene ENSMUSG00000074439
Gene Name defensin, alpha, 5
Synonyms Defcr5
MMRRC Submission 044728-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6605 (G1)
Quality Score 196.009
Status Not validated
Chromosome 8
Chromosomal Location 21787455-21788391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 21787604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 50 (E50D)
Ref Sequence ENSEMBL: ENSMUSP00000096491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098892]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000098892
AA Change: E50D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096491
Gene: ENSMUSG00000074439
AA Change: E50D

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 1.1e-25 PFAM
DEFSN 64 92 2.26e-9 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 92% (35/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T A 7: 45,630,481 (GRCm39) I1260F probably damaging Het
Acat2 A G 17: 13,162,774 (GRCm39) V358A probably benign Het
Adgrv1 G A 13: 81,636,081 (GRCm39) A3476V possibly damaging Het
Akap13 A G 7: 75,229,516 (GRCm39) N150D probably damaging Het
Asb2 G T 12: 103,311,943 (GRCm39) Q60K probably benign Het
Asxl3 A T 18: 22,650,134 (GRCm39) R708* probably null Het
Cd79b C T 11: 106,203,539 (GRCm39) G116D probably damaging Het
Copg2 A G 6: 30,835,757 (GRCm39) F218S probably benign Het
Efcab3 T A 11: 104,890,107 (GRCm39) probably null Het
Eva1c T A 16: 90,663,236 (GRCm39) V91D probably damaging Het
Fosb T C 7: 19,043,283 (GRCm39) Y25C probably damaging Het
Gm5141 G A 13: 62,922,201 (GRCm39) H323Y probably damaging Het
Gpr19 T C 6: 134,847,398 (GRCm39) N58S probably benign Het
Gpr26 G A 7: 131,585,893 (GRCm39) A288T possibly damaging Het
Gucy2g T A 19: 55,229,460 (GRCm39) Q70L probably damaging Het
Ifit2 C T 19: 34,550,897 (GRCm39) R146* probably null Het
Lgr5 A C 10: 115,293,772 (GRCm39) N408K possibly damaging Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Mief1 T A 15: 80,132,692 (GRCm39) Y191* probably null Het
Npr3 C G 15: 11,905,518 (GRCm39) A70P probably damaging Het
Or2y1b A T 11: 49,208,541 (GRCm39) H56L probably damaging Het
Pcnt A G 10: 76,265,032 (GRCm39) probably null Het
Pnlip A T 19: 58,660,174 (GRCm39) D29V probably benign Het
Pnpt1 T A 11: 29,088,567 (GRCm39) F277I possibly damaging Het
Pou2f2 A C 7: 24,793,006 (GRCm39) V441G probably damaging Het
Prdm4 A G 10: 85,740,002 (GRCm39) V459A probably benign Het
Ptprs A T 17: 56,729,195 (GRCm39) V855E probably damaging Het
Rflna A G 5: 125,088,352 (GRCm39) T100A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Spata31h1 A T 10: 82,131,871 (GRCm39) S380T probably benign Het
Syn3 A G 10: 85,893,428 (GRCm39) S472P unknown Het
Taar8a A T 10: 23,952,674 (GRCm39) I93F possibly damaging Het
Taok2 T A 7: 126,477,930 (GRCm39) D207V probably damaging Het
Tpst2 A T 5: 112,424,600 (GRCm39) probably benign Homo
Trdv2-1 A G 14: 54,183,999 (GRCm39) N77S possibly damaging Het
Wdr17 A C 8: 55,134,559 (GRCm39) V18G probably benign Het
Zbtb17 T C 4: 141,192,261 (GRCm39) V402A probably damaging Het
Zfp772 T C 7: 7,208,547 (GRCm39) E99G possibly damaging Het
Zw10 A G 9: 48,980,926 (GRCm39) D442G probably benign Het
Other mutations in Defa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Defa5 APN 8 21,787,592 (GRCm39) missense possibly damaging 0.92
R2091:Defa5 UTSW 8 21,787,513 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTGCTCAACAATTCTCCAGG -3'
(R):5'- GGAGCACTCTTATTGTTGAAATTCCC -3'

Sequencing Primer
(F):5'- ATTCTCCAGGTGACCCCCAG -3'
(R):5'- ACTCTTATTGTTGAAATTCCCATGTG -3'
Posted On 2018-06-22