Incidental Mutation 'R5765:Fads2b'
ID 462735
Institutional Source Beutler Lab
Gene Symbol Fads2b
Ensembl Gene ENSMUSG00000075217
Gene Name fatty acid desaturase 2B
Synonyms 4833423E24Rik
MMRRC Submission 043366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R5765 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 85314436-85349279 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to G at 85314538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
AlphaFold Q0VAX3
Predicted Effect probably null
Transcript: ENSMUST00000099923
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217

DomainStartEndE-ValueType
Cyt-b5 65 139 6.6e-20 SMART
transmembrane domain 176 195 N/A INTRINSIC
Pfam:FA_desaturase 200 462 1.7e-39 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A T 11: 65,044,066 (GRCm39) probably benign Het
Abcf2 T C 5: 24,778,421 (GRCm39) R246G probably damaging Het
Adamts19 G T 18: 59,185,654 (GRCm39) C1176F probably damaging Het
Adh7 G A 3: 137,932,090 (GRCm39) V235I probably benign Het
Aoc1l1 C T 6: 48,955,471 (GRCm39) P694S probably damaging Het
Caprin2 G C 6: 148,744,666 (GRCm39) P701A probably damaging Het
Casp7 T C 19: 56,422,315 (GRCm39) V110A possibly damaging Het
Cd1d2 A T 3: 86,894,549 (GRCm39) M106L probably benign Het
Cntnap2 C T 6: 46,506,749 (GRCm39) probably benign Het
Cpm A G 10: 117,507,638 (GRCm39) I252V probably benign Het
Dnaaf2 A C 12: 69,239,627 (GRCm39) I631M probably damaging Het
Fam117b A G 1: 60,009,631 (GRCm39) probably null Het
Fbxw22 T C 9: 109,214,064 (GRCm39) M251V probably benign Het
Fignl1 T C 11: 11,752,011 (GRCm39) probably null Het
Foxp1 G A 6: 98,992,423 (GRCm39) L156F probably damaging Het
Gdap1 A T 1: 17,231,650 (GRCm39) M332L probably benign Het
H2-M3 T C 17: 37,583,334 (GRCm39) F265S probably damaging Het
Il1rl1 C T 1: 40,501,103 (GRCm39) A493V probably benign Het
Iqce A G 5: 140,651,895 (GRCm39) S359P probably damaging Het
Kif2b C T 11: 91,468,068 (GRCm39) E72K probably benign Het
Luzp1 T C 4: 136,268,340 (GRCm39) S188P probably damaging Het
Med13l T A 5: 118,866,707 (GRCm39) L587Q probably damaging Het
Mocs2 A G 13: 114,962,692 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,459 (GRCm39) Y200C probably damaging Het
Nalcn C T 14: 123,702,138 (GRCm39) V458I possibly damaging Het
Nbea C T 3: 55,912,719 (GRCm39) V1023I probably benign Het
Nbeal1 T A 1: 60,331,006 (GRCm39) V2205D probably damaging Het
Nfe2l3 A G 6: 51,434,226 (GRCm39) D262G probably damaging Het
Nsfl1c T C 2: 151,346,085 (GRCm39) Y169H probably damaging Het
Pcdhac1 A T 18: 37,223,372 (GRCm39) R62* probably null Het
Pcdhga1 A G 18: 37,796,714 (GRCm39) T573A probably benign Het
Plin4 C T 17: 56,409,470 (GRCm39) C1276Y possibly damaging Het
Ppp6r1 C A 7: 4,645,207 (GRCm39) R220L possibly damaging Het
Ptprz1 T G 6: 23,000,235 (GRCm39) V775G probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc17a6 A G 7: 51,275,249 (GRCm39) T103A possibly damaging Het
Spock1 A T 13: 57,577,217 (GRCm39) L404Q probably benign Het
Stradb C A 1: 59,031,903 (GRCm39) H272N probably benign Het
Strn3 A G 12: 51,680,410 (GRCm39) S397P probably benign Het
Synpo2l C T 14: 20,716,198 (GRCm39) R126H possibly damaging Het
Tas2r104 A G 6: 131,662,236 (GRCm39) Y158H probably benign Het
Tiparp T A 3: 65,438,771 (GRCm39) I29N possibly damaging Het
Tnpo1 G A 13: 98,996,349 (GRCm39) T484M probably benign Het
Tsc22d4 A G 5: 137,756,805 (GRCm39) I78V probably benign Het
Ugt2b1 T C 5: 87,067,265 (GRCm39) Y386C probably benign Het
Ugt2b38 A G 5: 87,571,954 (GRCm39) V26A probably damaging Het
Vmn2r116 G A 17: 23,620,378 (GRCm39) C704Y probably damaging Het
Vmn2r97 T A 17: 19,167,442 (GRCm39) Y565* probably null Het
Zfand2b T A 1: 75,147,171 (GRCm39) probably null Het
Zzef1 C T 11: 72,712,763 (GRCm39) Q228* probably null Het
Other mutations in Fads2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Fads2b APN 2 85,348,899 (GRCm39) missense probably damaging 1.00
IGL02348:Fads2b APN 2 85,323,640 (GRCm39) missense possibly damaging 0.70
IGL02701:Fads2b APN 2 85,314,513 (GRCm39) missense probably damaging 1.00
IGL02833:Fads2b APN 2 85,332,551 (GRCm39) missense possibly damaging 0.46
IGL03152:Fads2b APN 2 85,330,648 (GRCm39) missense probably damaging 0.98
IGL03283:Fads2b APN 2 85,320,751 (GRCm39) missense probably damaging 1.00
R0083:Fads2b UTSW 2 85,324,476 (GRCm39) missense possibly damaging 0.50
R0329:Fads2b UTSW 2 85,348,895 (GRCm39) missense probably benign 0.11
R0330:Fads2b UTSW 2 85,348,895 (GRCm39) missense probably benign 0.11
R0943:Fads2b UTSW 2 85,319,109 (GRCm39) missense probably damaging 0.99
R2100:Fads2b UTSW 2 85,330,593 (GRCm39) missense probably damaging 1.00
R3694:Fads2b UTSW 2 85,324,454 (GRCm39) missense probably benign 0.00
R3803:Fads2b UTSW 2 85,338,682 (GRCm39) splice site probably null
R3952:Fads2b UTSW 2 85,330,548 (GRCm39) splice site probably benign
R4161:Fads2b UTSW 2 85,348,853 (GRCm39) missense probably damaging 1.00
R4630:Fads2b UTSW 2 85,348,990 (GRCm39) nonsense probably null
R6104:Fads2b UTSW 2 85,338,693 (GRCm39) nonsense probably null
R6314:Fads2b UTSW 2 85,332,520 (GRCm39) missense probably benign 0.07
R6891:Fads2b UTSW 2 85,319,157 (GRCm39) missense probably damaging 1.00
R6891:Fads2b UTSW 2 85,319,149 (GRCm39) missense possibly damaging 0.80
R7027:Fads2b UTSW 2 85,315,871 (GRCm39) missense probably damaging 1.00
R7235:Fads2b UTSW 2 85,330,563 (GRCm39) missense probably damaging 1.00
R7635:Fads2b UTSW 2 85,330,581 (GRCm39) missense probably benign 0.38
R8000:Fads2b UTSW 2 85,349,070 (GRCm39) missense probably benign 0.00
R8737:Fads2b UTSW 2 85,324,387 (GRCm39) intron probably benign
R9182:Fads2b UTSW 2 85,330,581 (GRCm39) missense probably benign 0.01
R9303:Fads2b UTSW 2 85,330,649 (GRCm39) nonsense probably null
R9305:Fads2b UTSW 2 85,330,649 (GRCm39) nonsense probably null
R9315:Fads2b UTSW 2 85,319,188 (GRCm39) missense probably benign 0.06
R9319:Fads2b UTSW 2 85,320,757 (GRCm39) missense probably damaging 1.00
X0021:Fads2b UTSW 2 85,349,045 (GRCm39) missense probably benign 0.00
Z1088:Fads2b UTSW 2 85,332,421 (GRCm39) missense probably benign 0.14
Z1088:Fads2b UTSW 2 85,314,525 (GRCm39) missense probably damaging 1.00
Z1176:Fads2b UTSW 2 85,348,806 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TTCACATTCCTGGGACACTC -3'
(R):5'- CAAAGAGTCTGTGTGGCCAG -3'

Sequencing Primer
(F):5'- ACATTCCTGGGACACTCATGTATG -3'
(R):5'- AGTCTGTGTGGCCAGAATTTATTTC -3'
Posted On 2017-03-01