Mutagenetix > Incidental Mutation

Incidental Mutation 'R1610:Far2'

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

Chromosomal Location

148047259-148182758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148157458 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	G	T	6: 96,165,289	P258Q	probably damaging	Het
4930452B06Rik	G	T	14: 8,511,110	H435N	probably benign	Het
Acbd5	G	A	2: 23,090,551	C312Y	probably damaging	Het
Adgrl1	T	A	8: 83,932,373	M601K	probably benign	Het
Agbl4	G	A	4: 111,657,168	E459K	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Casz1	C	T	4: 148,929,087	A36V	possibly damaging	Het
Chpf	A	G	1: 75,476,648	V327A	probably damaging	Het
Cldn23	A	G	8: 35,825,930	Y135H	probably damaging	Het
Cobll1	C	T	2: 65,133,642	D211N	probably damaging	Het
Cramp1l	A	G	17: 24,983,951	V368A	probably benign	Het
Dnah6	T	C	6: 73,144,963	T1374A	probably benign	Het
Dpyd	A	G	3: 119,065,006	H623R	probably benign	Het
Dyrk2	T	C	10: 118,859,925	N476S	probably benign	Het
Endog	A	T	2: 30,173,887	I267F	probably damaging	Het
Ephb6	A	T	6: 41,614,373	K155*	probably null	Het
Fat2	A	G	11: 55,278,924	V3003A	probably damaging	Het
Frg2f1	T	A	4: 119,531,288	T5S	possibly damaging	Het
Gm14496	A	T	2: 181,996,179	T349S	probably benign	Het
Golgb1	A	G	16: 36,926,101	T2951A	probably benign	Het
Hc	G	T	2: 35,006,161	D1203E	probably benign	Het
Isg20	C	A	7: 78,914,509	Q55K	possibly damaging	Het
Jph4	G	T	14: 55,114,103	A152E	probably damaging	Het
Kcnq3	T	C	15: 66,025,260	T264A	probably damaging	Het
Kcnq5	T	G	1: 21,457,461	T463P	probably damaging	Het
Klra8	A	G	6: 130,119,018	S204P	probably damaging	Het
Ldlrad1	A	G	4: 107,214,875	D98G	probably damaging	Het
Lhfpl4	T	C	6: 113,194,136	T30A	possibly damaging	Het
Lig1	T	A	7: 13,285,340	L80Q	probably damaging	Het
Lmbrd2	A	G	15: 9,186,612	Y558C	probably benign	Het
Lrrn3	G	T	12: 41,452,993	L442I	possibly damaging	Het
Mc2r	A	G	18: 68,407,448	F258S	probably damaging	Het
Mmp16	A	G	4: 18,011,582	T137A	probably benign	Het
Nfatc2ip	A	T	7: 126,387,407	S359T	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1193	A	T	2: 88,678,574	K233*	probably null	Het
Olfr1229	T	C	2: 89,282,821	H104R	probably damaging	Het
Olfr514	T	A	7: 108,825,924	H25L	probably benign	Het
Olfr904	C	T	9: 38,464,631	L197F	probably damaging	Het
Plagl1	C	T	10: 13,128,962		probably benign	Het
Plxnb2	A	T	15: 89,158,493	S1531T	probably damaging	Het
Ptpn22	G	A	3: 103,902,196		probably null	Het
Rtn1	T	A	12: 72,219,279	Q174L	possibly damaging	Het
Selenoo	A	G	15: 89,099,916	E645G	probably benign	Het
Serpina1a	A	C	12: 103,853,837	D383E	possibly damaging	Het
Slc6a18	T	A	13: 73,668,225	Y345F	probably benign	Het
Smbd1	A	G	16: 32,806,765	V51A	possibly damaging	Het
Tchh	C	T	3: 93,444,839	R529W	unknown	Het
Tmem206	A	G	1: 191,345,065	D195G	probably benign	Het
Tonsl	A	T	15: 76,638,557	Y165N	probably damaging	Het
Trdmt1	G	A	2: 13,516,059	T344I	probably damaging	Het
Ubash3b	C	A	9: 41,043,500	R116L	probably damaging	Het
Vmn2r94	A	G	17: 18,243,733	V765A	probably damaging	Het
Zfp474	C	T	18: 52,638,365	T30I	probably benign	Het

Other mutations in Far2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Far2	APN	6	148150598	missense	possibly damaging	0.89
IGL01650:Far2	APN	6	148173487	missense	possibly damaging	0.92
IGL01899:Far2	APN	6	148146029	missense	probably benign	0.19
IGL02524:Far2	APN	6	148150658	missense	probably damaging	1.00
IGL02756:Far2	APN	6	148157391	missense	probably damaging	1.00
Galway	UTSW	6	148157482	missense	probably damaging	0.99
PIT4531001:Far2	UTSW	6	148175131	missense	possibly damaging	0.95
R0319:Far2	UTSW	6	148157470	missense	probably damaging	0.96
R0654:Far2	UTSW	6	148175141	missense	possibly damaging	0.64
R1321:Far2	UTSW	6	148173536	splice site	probably benign
R2039:Far2	UTSW	6	148165577	missense	probably benign
R2471:Far2	UTSW	6	148138694	missense	probably damaging	1.00
R3874:Far2	UTSW	6	148150591	missense	probably benign	0.00
R3875:Far2	UTSW	6	148150591	missense	probably benign	0.00
R3974:Far2	UTSW	6	148150754	missense	probably damaging	0.96
R4490:Far2	UTSW	6	148173409	missense	possibly damaging	0.88
R4491:Far2	UTSW	6	148173409	missense	possibly damaging	0.88
R5034:Far2	UTSW	6	148173441	missense	probably benign	0.43
R5421:Far2	UTSW	6	148146192	splice site	probably null
R5673:Far2	UTSW	6	148146104	missense	possibly damaging	0.86
R6092:Far2	UTSW	6	148175083	missense	probably benign	0.00
R6294:Far2	UTSW	6	148157482	missense	probably damaging	0.99
R6325:Far2	UTSW	6	148157497	missense	probably benign	0.30
R6783:Far2	UTSW	6	148150775	splice site	probably null
R7380:Far2	UTSW	6	148180995	missense	unknown
R7403:Far2	UTSW	6	148158977	missense	possibly damaging	0.93
R7484:Far2	UTSW	6	148173913	missense	probably damaging	1.00
R8276:Far2	UTSW	6	148173901	missense	probably benign	0.00
R8709:Far2	UTSW	6	148165635	missense	probably benign	0.00
R8774:Far2	UTSW	6	148146131	missense	probably benign	0.01
R8774-TAIL:Far2	UTSW	6	148146131	missense	probably benign	0.01
R9177:Far2	UTSW	6	148158920	missense	probably benign	0.00
R9268:Far2	UTSW	6	148158920	missense	probably benign	0.00
R9504:Far2	UTSW	6	148157955	missense	probably damaging	0.99
R9583:Far2	UTSW	6	148157936	missense	probably damaging	0.99
R9760:Far2	UTSW	6	148158950	missense	probably damaging	1.00
X0053:Far2	UTSW	6	148165640	missense	probably benign	0.00
Z1088:Far2	UTSW	6	148138658	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