Incidental Mutation 'R6314:Fads2b'
ID 509920
Institutional Source Beutler Lab
Gene Symbol Fads2b
Ensembl Gene ENSMUSG00000075217
Gene Name fatty acid desaturase 2B
Synonyms 4833423E24Rik
MMRRC Submission 044471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6314 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85314436-85349279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85332520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 168 (N168S)
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
AlphaFold Q0VAX3
Predicted Effect probably benign
Transcript: ENSMUST00000099923
AA Change: N168S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: N168S

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A C 5: 146,441,702 (GRCm39) E283A possibly damaging Het
Aadacl2 A T 3: 59,924,824 (GRCm39) R130S probably damaging Het
Adam22 A T 5: 8,177,365 (GRCm39) C581* probably null Het
Adss2 T A 1: 177,595,334 (GRCm39) Y402F probably damaging Het
Agfg1 A T 1: 82,836,155 (GRCm39) Q13H probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Armc8 A G 9: 99,417,937 (GRCm39) S74P probably benign Het
Atn1 A T 6: 124,724,013 (GRCm39) probably benign Het
Ddx5 T C 11: 106,679,347 (GRCm39) probably benign Het
Depdc1a T A 3: 159,204,051 (GRCm39) H33Q probably damaging Het
Dnmt3l A T 10: 77,895,521 (GRCm39) Y58F probably benign Het
Efemp1 C T 11: 28,864,603 (GRCm39) T219I probably benign Het
Enpp2 T C 15: 54,729,366 (GRCm39) N436D probably damaging Het
Epb41l4a A G 18: 34,007,208 (GRCm39) V261A probably damaging Het
Erap1 A T 13: 74,822,894 (GRCm39) K802N probably damaging Het
Fcrl6 T A 1: 172,426,186 (GRCm39) probably null Het
Fv1 A T 4: 147,954,156 (GRCm39) probably null Het
Gdpd4 T A 7: 97,623,160 (GRCm39) M257K probably damaging Het
Gorab T C 1: 163,224,658 (GRCm39) S48G probably damaging Het
Gxylt2 A T 6: 100,775,164 (GRCm39) H361L probably damaging Het
Hk1 A G 10: 62,128,223 (GRCm39) Y300H possibly damaging Het
Hk3 T C 13: 55,161,393 (GRCm39) R156G probably benign Het
Hook3 T A 8: 26,578,136 (GRCm39) M118L probably benign Het
Lmnb2 G A 10: 80,745,804 (GRCm39) R92C probably damaging Het
Lsr A G 7: 30,658,024 (GRCm39) L380P probably damaging Het
Mettl16 A T 11: 74,686,832 (GRCm39) R204* probably null Het
Or5h18 A T 16: 58,847,820 (GRCm39) I150K probably benign Het
Or7a37 A G 10: 78,806,179 (GRCm39) H232R probably benign Het
Or7e173 C A 9: 19,938,958 (GRCm39) S92I probably damaging Het
Orc3 C A 4: 34,579,797 (GRCm39) G494C possibly damaging Het
Pcare T G 17: 72,059,452 (GRCm39) Q75P probably benign Het
Pip5k1a G T 3: 94,975,432 (GRCm39) T346K probably damaging Het
Pitx1 A T 13: 55,974,166 (GRCm39) S222T possibly damaging Het
Pm20d1 T C 1: 131,743,754 (GRCm39) V473A possibly damaging Het
Pnpla6 C T 8: 3,571,572 (GRCm39) L168F probably benign Het
Pramel13 T C 4: 144,121,157 (GRCm39) D289G probably damaging Het
Reln C A 5: 22,357,482 (GRCm39) E195* probably null Het
S100a7l2 A T 3: 90,995,683 (GRCm39) V73E possibly damaging Het
Sec24b A T 3: 129,800,894 (GRCm39) probably null Het
Selenbp1 A G 3: 94,844,576 (GRCm39) N78D probably damaging Het
Serpina1d T A 12: 103,730,959 (GRCm39) T340S probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Snap29 T C 16: 17,237,183 (GRCm39) M98T probably benign Het
Son G T 16: 91,457,298 (GRCm39) probably benign Het
Spef1l A C 7: 139,556,402 (GRCm39) L195R possibly damaging Het
Tgfbi A T 13: 56,773,976 (GRCm39) T252S probably benign Het
Thsd7a T C 6: 12,554,996 (GRCm39) N296S possibly damaging Het
Tmem225 C G 9: 40,062,016 (GRCm39) T210S probably benign Het
Tmem245 A T 4: 56,888,592 (GRCm39) V778D possibly damaging Het
Tor4a T C 2: 25,084,794 (GRCm39) R370G possibly damaging Het
Tubgcp3 T C 8: 12,698,625 (GRCm39) H442R probably benign Het
Vmn1r20 A T 6: 57,409,042 (GRCm39) M123L probably benign Het
Zfp622 T C 15: 25,987,067 (GRCm39) V273A probably benign Het
Zhx1 C T 15: 57,917,398 (GRCm39) V283I probably benign 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
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
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'- TCAAGCTTCTCTCAAAGGCCAC -3'
(R):5'- TCATTTAGGCTTCATGGACATTGG -3'

Sequencing Primer
(F):5'- AAAGGCCACTCTTGTAGCTCAGG -3'
(R):5'- CCAGTTCCCTGAATGAACT -3'
Posted On 2018-04-02