Incidental Mutation 'R4161:Fads2b'
ID 321509
Institutional Source Beutler Lab
Gene Symbol Fads2b
Ensembl Gene ENSMUSG00000075217
Gene Name fatty acid desaturase 2B
Synonyms 4833423E24Rik
MMRRC Submission 041004-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4161 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 85314436-85349279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85348853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 86 (K86N)
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
AlphaFold Q0VAX3
Predicted Effect probably damaging
Transcript: ENSMUST00000099923
AA Change: K86N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: K86N

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (39/41)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 A G 9: 121,738,588 (GRCm39) Y321C probably benign Het
Angptl3 T C 4: 98,919,728 (GRCm39) S163P probably damaging Het
Ankle2 T C 5: 110,382,234 (GRCm39) M70T probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Ano8 A T 8: 71,935,281 (GRCm39) I339N probably damaging Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cxcl2 A T 5: 91,051,881 (GRCm39) probably null Het
Exosc3 T C 4: 45,320,619 (GRCm39) probably benign Het
Fat1 G A 8: 45,489,824 (GRCm39) A3579T probably benign Het
Fat4 G A 3: 38,996,958 (GRCm39) V1726I possibly damaging Het
Grm7 A G 6: 111,230,981 (GRCm39) N468S probably damaging Het
Hmgcll1 A T 9: 75,982,198 (GRCm39) probably benign Het
Igkv3-12 T A 6: 70,495,542 (GRCm39) V23E probably benign Het
Irx6 T C 8: 93,402,919 (GRCm39) C95R possibly damaging Het
Kif16b G A 2: 142,549,324 (GRCm39) H1064Y probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Plec T C 15: 76,063,851 (GRCm39) E2141G possibly damaging Het
Pou6f1 A G 15: 100,478,724 (GRCm39) S395P probably damaging Het
Prss12 A T 3: 123,279,176 (GRCm39) K418* probably null Het
Rtn3 G A 19: 7,460,444 (GRCm39) A2V probably benign Het
Rubcnl A G 14: 75,281,898 (GRCm39) T452A possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slco1a7 T C 6: 141,654,322 (GRCm39) K647E probably benign Het
Spred3 A G 7: 28,861,210 (GRCm39) L323P probably damaging Het
Srprb A G 9: 103,078,529 (GRCm39) F67S possibly damaging Het
Tk2 T C 8: 104,965,465 (GRCm39) S101G probably benign Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Trpm7 A G 2: 126,658,751 (GRCm39) L1135P probably damaging Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Usp38 C T 8: 81,719,967 (GRCm39) A421T probably damaging Het
Vcan G T 13: 89,833,277 (GRCm39) N3058K probably damaging Het
Vmn1r221 G A 13: 23,402,176 (GRCm39) noncoding transcript Het
Vps11 C G 9: 44,267,017 (GRCm39) G406A probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zbtb10 T C 3: 9,345,356 (GRCm39) S707P probably damaging 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
R4630:Fads2b UTSW 2 85,348,990 (GRCm39) nonsense probably null
R5765:Fads2b UTSW 2 85,314,538 (GRCm39) critical splice acceptor site 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'- CAGCAGCATTGTGGAAAGGC -3'
(R):5'- ACCGATAGCTAATGGGAATCC -3'

Sequencing Primer
(F):5'- GGAGGGGAACACACACACAC -3'
(R):5'- TAGCTAATGGGAATCCGACAGC -3'
Posted On 2015-06-12