Incidental Mutation 'PIT4677001:Fads2'
ID 556580
Institutional Source Beutler Lab
Gene Symbol Fads2
Ensembl Gene ENSMUSG00000024665
Gene Name fatty acid desaturase 2
Synonyms Fads2a, 2900042M13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # PIT4677001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 10040129-10078867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10047694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 275 (I275N)
Ref Sequence ENSEMBL: ENSMUSP00000025567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025567]
AlphaFold Q9Z0R9
Predicted Effect probably damaging
Transcript: ENSMUST00000025567
AA Change: I275N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025567
Gene: ENSMUSG00000024665
AA Change: I275N

DomainStartEndE-ValueType
Cyt-b5 21 95 1.63e-19 SMART
transmembrane domain 124 143 N/A INTRINSIC
Pfam:FA_desaturase 156 418 5.2e-36 PFAM
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 71.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display absence of long-chain polyunsaturated fatty acids, infertility, arrest of spermiogenesis and folliculogenesis, and impaired platelet function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T A 2: 127,028,933 (GRCm39) T89S probably benign Het
4921517D22Rik A T 13: 59,838,305 (GRCm39) F176I probably benign Het
Acsm3 A G 7: 119,374,340 (GRCm39) D264G probably damaging Het
Adamts12 T A 15: 11,286,896 (GRCm39) F834I probably benign Het
Arhgap45 A T 10: 79,856,583 (GRCm39) M171L probably benign Het
Arid5b A T 10: 67,933,841 (GRCm39) M687K probably damaging Het
AU040320 A T 4: 126,686,030 (GRCm39) Q202L probably benign Het
Ccdc47 A G 11: 106,099,034 (GRCm39) L219P probably damaging Het
Cfhr2 T G 1: 139,733,117 (GRCm39) S301R unknown Het
Cog2 T A 8: 125,272,010 (GRCm39) V508E probably benign Het
Cpb2 A G 14: 75,493,463 (GRCm39) T47A probably benign Het
Ddx60 A T 8: 62,425,288 (GRCm39) K692I possibly damaging Het
Defb34 A T 8: 19,176,412 (GRCm39) R34S possibly damaging Het
Fmn2 T G 1: 174,474,699 (GRCm39) S1221A probably damaging Het
Fndc3a A T 14: 72,812,035 (GRCm39) V302E probably benign Het
Galntl6 C T 8: 58,310,621 (GRCm39) C360Y probably damaging Het
Gm16519 A T 17: 71,236,506 (GRCm39) I152F probably benign Het
Hnrnpr T A 4: 136,056,750 (GRCm39) V250D probably damaging Het
Hs3st6 A G 17: 24,977,285 (GRCm39) D255G possibly damaging Het
Ift70a1 A G 2: 75,810,113 (GRCm39) Y657H possibly damaging Het
Ino80 C T 2: 119,208,026 (GRCm39) V1422M probably benign Het
Insyn2b A T 11: 34,353,122 (GRCm39) N388I probably benign Het
Kcnu1 A G 8: 26,396,021 (GRCm39) I669V probably benign Het
Layn A T 9: 50,968,711 (GRCm39) V344E probably damaging Het
Mgll A T 6: 88,802,663 (GRCm39) R273W possibly damaging Het
Myh2 G A 11: 67,072,818 (GRCm39) S636N probably benign Het
Nmur2 A T 11: 55,923,835 (GRCm39) S240T probably benign Het
Pkd1 T G 17: 24,793,003 (GRCm39) S1563R possibly damaging Het
Ppp4r3b G A 11: 29,137,978 (GRCm39) V109I probably benign Het
Prdm2 A T 4: 142,861,648 (GRCm39) D547E probably damaging Het
Prss46 A T 9: 110,685,098 (GRCm39) M241L probably benign Het
Ptprf T A 4: 118,070,809 (GRCm39) I1397F probably damaging Het
Pus10 A T 11: 23,670,171 (GRCm39) T418S possibly damaging Het
Qsox2 T C 2: 26,112,320 (GRCm39) D74G probably damaging Het
Sctr T C 1: 119,989,634 (GRCm39) V383A probably damaging Het
Siglec1 T A 2: 130,914,677 (GRCm39) N1480Y probably damaging Het
Skint2 T C 4: 112,483,135 (GRCm39) I180T probably benign Het
Snd1 A G 6: 28,880,295 (GRCm39) I690V probably benign Het
Spire1 T C 18: 67,624,435 (GRCm39) T575A probably damaging Het
Srbd1 G A 17: 86,422,640 (GRCm39) R459* probably null Het
Tll2 C A 19: 41,118,997 (GRCm39) V244L probably benign Het
Tmem60 A G 5: 21,091,366 (GRCm39) I44V probably benign Het
Utrn T A 10: 12,542,448 (GRCm39) I1846F probably benign Het
Vinac1 T C 2: 128,880,636 (GRCm39) D430G Het
Vps8 T C 16: 21,319,084 (GRCm39) F641S possibly damaging Het
Other mutations in Fads2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Fads2 APN 19 10,043,649 (GRCm39) missense probably benign 0.02
IGL02801:Fads2 APN 19 10,060,009 (GRCm39) missense possibly damaging 0.88
IGL03340:Fads2 APN 19 10,069,136 (GRCm39) missense possibly damaging 0.76
sound UTSW 19 10,041,649 (GRCm39) missense probably damaging 1.00
R1437:Fads2 UTSW 19 10,069,193 (GRCm39) missense probably benign 0.00
R4827:Fads2 UTSW 19 10,059,958 (GRCm39) missense probably benign 0.03
R5367:Fads2 UTSW 19 10,041,649 (GRCm39) missense probably damaging 1.00
R5872:Fads2 UTSW 19 10,059,997 (GRCm39) missense probably benign 0.00
R7062:Fads2 UTSW 19 10,042,962 (GRCm39) splice site probably null
R9189:Fads2 UTSW 19 10,069,183 (GRCm39) missense probably benign
R9733:Fads2 UTSW 19 10,047,940 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTCCCAAGAGTGACAAAGCAG -3'
(R):5'- CCTGAGTGAGTATGGTTGCC -3'

Sequencing Primer
(F):5'- CAGCTACACTTTAGGGGAGCTGTC -3'
(R):5'- CACAGCATGCCCATCTGG -3'
Posted On 2019-06-07