Incidental Mutation 'R2100:Fads2b'
ID 230407
Institutional Source Beutler Lab
Gene Symbol Fads2b
Ensembl Gene ENSMUSG00000075217
Gene Name fatty acid desaturase 2B
Synonyms 4833423E24Rik
MMRRC Submission 040104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2100 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 85314436-85349279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85330593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 238 (N238S)
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
AlphaFold Q0VAX3
Predicted Effect probably damaging
Transcript: ENSMUST00000099923
AA Change: N238S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: N238S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,183 (GRCm39) R1295W probably damaging Het
Abca8b A T 11: 109,828,608 (GRCm39) I1430N probably damaging Het
Abcb1a A G 5: 8,763,202 (GRCm39) T577A probably damaging Het
Arl5b G A 2: 15,078,006 (GRCm39) M101I probably benign Het
C1qbp T A 11: 70,868,928 (GRCm39) N278I probably benign Het
Cdh1 A T 8: 107,386,300 (GRCm39) T408S possibly damaging Het
Cfap54 T A 10: 92,837,799 (GRCm39) I1034F possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Chil4 T C 3: 106,121,663 (GRCm39) K62R probably benign Het
Crebl2 A G 6: 134,828,166 (GRCm39) T113A probably benign Het
Cyp2c69 C A 19: 39,875,130 (GRCm39) V8L probably benign Het
Dpp6 A G 5: 27,869,742 (GRCm39) R447G probably damaging Het
Efcab6 A T 15: 83,777,168 (GRCm39) probably null Het
Emilin1 T G 5: 31,075,241 (GRCm39) V494G probably benign Het
Enoph1 A G 5: 100,211,645 (GRCm39) I181V probably null Het
F3 T C 3: 121,526,082 (GRCm39) V215A possibly damaging Het
Fat3 G T 9: 16,288,726 (GRCm39) H266N possibly damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Garnl3 T C 2: 32,936,657 (GRCm39) T171A probably benign Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Impg2 A G 16: 56,051,748 (GRCm39) probably null Het
Kctd6 T C 14: 8,222,239 (GRCm38) L27P possibly damaging Het
Kmt2d G T 15: 98,744,361 (GRCm39) probably benign Het
Kremen1 AGGCGG AGGCGGCGG 11: 5,151,788 (GRCm39) probably benign Het
Lrig2 A G 3: 104,418,946 (GRCm39) L21P possibly damaging Het
Macf1 G A 4: 123,291,699 (GRCm39) Q3284* probably null Het
Mnt A G 11: 74,722,177 (GRCm39) E8G probably damaging Het
Nbeal1 A G 1: 60,344,430 (GRCm39) probably null Het
Nid2 C T 14: 19,828,946 (GRCm39) Q331* probably null Het
Nlrx1 A G 9: 44,173,905 (GRCm39) L432P probably damaging Het
Nop2 T A 6: 125,117,785 (GRCm39) D445E probably damaging Het
Nup62 T C 7: 44,478,921 (GRCm39) probably benign Het
Oas2 A G 5: 120,883,740 (GRCm39) probably null Het
Or5b121 A G 19: 13,507,798 (GRCm39) I298V probably benign Het
Or5p1 A T 7: 107,916,761 (GRCm39) Y220F probably benign Het
Or5w10 T A 2: 87,375,169 (GRCm39) T240S probably damaging Het
Or8k40 A T 2: 86,584,905 (GRCm39) M59K possibly damaging Het
Or9i14 A G 19: 13,792,600 (GRCm39) M118T possibly damaging Het
P3h3 T A 6: 124,822,005 (GRCm39) T623S probably damaging Het
Pkp3 T C 7: 140,663,205 (GRCm39) V350A probably damaging Het
Plekha3 T A 2: 76,523,007 (GRCm39) I225N probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf213 A T 11: 119,358,128 (GRCm39) K4292* probably null Het
Rtkn T C 6: 83,126,541 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Snx10 T C 6: 51,565,395 (GRCm39) Y171H probably damaging Het
Stx12 A T 4: 132,587,913 (GRCm39) I173N possibly damaging Het
Thrb T A 14: 18,030,393 (GRCm38) M379K possibly damaging Het
Tmem132e T A 11: 82,335,357 (GRCm39) V813E probably damaging Het
Tnfsf12 T C 11: 69,578,175 (GRCm39) E134G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpbgl T A 7: 99,275,651 (GRCm39) I69F possibly damaging Het
Ythdc1 T A 5: 86,964,544 (GRCm39) S130T possibly damaging Het
Zbp1 A G 2: 173,051,037 (GRCm39) S278P probably damaging Het
Zfp30 A G 7: 29,492,951 (GRCm39) T483A probably benign Het
Zfp322a G A 13: 23,541,460 (GRCm39) S94L possibly damaging Het
Zfp646 T G 7: 127,481,359 (GRCm39) Y1179D 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
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
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'- CCTAGAGCAATGTGAATTGAGC -3'
(R):5'- AGTGAGCTCAAAAGAGGTCTCC -3'

Sequencing Primer
(F):5'- GCAATGTGAATTGAGCCAAATAGTTG -3'
(R):5'- AGAGGTCTCCCAATATTCTGCTAGG -3'
Posted On 2014-09-18