Incidental Mutation 'R1610:Far2'
ID 176731
Institutional Source Beutler Lab
Gene Symbol Far2
Ensembl Gene ENSMUSG00000030303
Gene Name fatty acyl CoA reductase 2
Synonyms Mlstd1
MMRRC Submission 039647-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 147948914-148084256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148058956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 214 (V214A)
Ref Sequence ENSEMBL: ENSMUSP00000107234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032443] [ENSMUST00000111607]
AlphaFold Q7TNT2
Predicted Effect possibly damaging
Transcript: ENSMUST00000032443
AA Change: V214A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303
AA Change: V214A

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 13 160 5.3e-8 PFAM
Pfam:Epimerase 13 242 7.5e-9 PFAM
Pfam:3Beta_HSD 14 167 3.4e-7 PFAM
Pfam:NAD_binding_4 15 285 3.3e-76 PFAM
Pfam:Sterile 356 448 4.3e-35 PFAM
transmembrane domain 465 484 N/A INTRINSIC
transmembrane domain 491 510 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111607
AA Change: V214A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303
AA Change: V214A

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 13 159 2.9e-8 PFAM
Pfam:Epimerase 13 241 3.2e-10 PFAM
Pfam:3Beta_HSD 14 167 4.2e-7 PFAM
Pfam:NAD_binding_4 15 285 3.2e-73 PFAM
Pfam:Sterile 355 448 1.2e-29 PFAM
transmembrane domain 466 483 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign Het
Other mutations in Far2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Far2 APN 6 148,052,096 (GRCm39) missense possibly damaging 0.89
IGL01650:Far2 APN 6 148,074,985 (GRCm39) missense possibly damaging 0.92
IGL01899:Far2 APN 6 148,047,527 (GRCm39) missense probably benign 0.19
IGL02524:Far2 APN 6 148,052,156 (GRCm39) missense probably damaging 1.00
IGL02756:Far2 APN 6 148,058,889 (GRCm39) missense probably damaging 1.00
Galway UTSW 6 148,058,980 (GRCm39) missense probably damaging 0.99
PIT4531001:Far2 UTSW 6 148,076,629 (GRCm39) missense possibly damaging 0.95
R0319:Far2 UTSW 6 148,058,968 (GRCm39) missense probably damaging 0.96
R0654:Far2 UTSW 6 148,076,639 (GRCm39) missense possibly damaging 0.64
R1321:Far2 UTSW 6 148,075,034 (GRCm39) splice site probably benign
R2039:Far2 UTSW 6 148,067,075 (GRCm39) missense probably benign
R2471:Far2 UTSW 6 148,040,192 (GRCm39) missense probably damaging 1.00
R3874:Far2 UTSW 6 148,052,089 (GRCm39) missense probably benign 0.00
R3875:Far2 UTSW 6 148,052,089 (GRCm39) missense probably benign 0.00
R3974:Far2 UTSW 6 148,052,252 (GRCm39) missense probably damaging 0.96
R4490:Far2 UTSW 6 148,074,907 (GRCm39) missense possibly damaging 0.88
R4491:Far2 UTSW 6 148,074,907 (GRCm39) missense possibly damaging 0.88
R5034:Far2 UTSW 6 148,074,939 (GRCm39) missense probably benign 0.43
R5421:Far2 UTSW 6 148,047,690 (GRCm39) splice site probably null
R5673:Far2 UTSW 6 148,047,602 (GRCm39) missense possibly damaging 0.86
R6092:Far2 UTSW 6 148,076,581 (GRCm39) missense probably benign 0.00
R6294:Far2 UTSW 6 148,058,980 (GRCm39) missense probably damaging 0.99
R6325:Far2 UTSW 6 148,058,995 (GRCm39) missense probably benign 0.30
R6783:Far2 UTSW 6 148,052,273 (GRCm39) splice site probably null
R7380:Far2 UTSW 6 148,082,493 (GRCm39) missense unknown
R7403:Far2 UTSW 6 148,060,475 (GRCm39) missense possibly damaging 0.93
R7484:Far2 UTSW 6 148,075,411 (GRCm39) missense probably damaging 1.00
R8276:Far2 UTSW 6 148,075,399 (GRCm39) missense probably benign 0.00
R8709:Far2 UTSW 6 148,067,133 (GRCm39) missense probably benign 0.00
R8774:Far2 UTSW 6 148,047,629 (GRCm39) missense probably benign 0.01
R8774-TAIL:Far2 UTSW 6 148,047,629 (GRCm39) missense probably benign 0.01
R9177:Far2 UTSW 6 148,060,418 (GRCm39) missense probably benign 0.00
R9268:Far2 UTSW 6 148,060,418 (GRCm39) missense probably benign 0.00
R9504:Far2 UTSW 6 148,059,453 (GRCm39) missense probably damaging 0.99
R9583:Far2 UTSW 6 148,059,434 (GRCm39) missense probably damaging 0.99
R9760:Far2 UTSW 6 148,060,448 (GRCm39) missense probably damaging 1.00
X0053:Far2 UTSW 6 148,067,138 (GRCm39) missense probably benign 0.00
Z1088:Far2 UTSW 6 148,040,156 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTTGTCCTTGTGACCCTGAGATG -3'
(R):5'- ACCGCAATAATGAGTCCGCTGG -3'

Sequencing Primer
(F):5'- GCCTTTCAGAATTTCAAGCCAG -3'
(R):5'- ggaagaggaagaggagaagagg -3'
Posted On 2014-04-24