Mutagenetix > Incidental Mutation

Incidental Mutation 'R5367:Fads2'

429448

Institutional Source

Beutler Lab

Gene Symbol

Fads2

Ensembl Gene

ENSMUSG00000024665

Gene Name

fatty acid desaturase 2

Synonyms

Fads2a, 2900042M13Rik

MMRRC Submission

042945-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R5367 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

10040129-10078867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10041649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 438 (L438P)

Ref Sequence

ENSEMBL: ENSMUSP00000025567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025567] [ENSMUST00000115995]

AlphaFold

Q9Z0R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000025567
AA Change: L438P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025567
Gene: ENSMUSG00000024665
AA Change: L438P

Domain	Start	End	E-Value	Type
Cyt-b5	21	95	1.63e-19	SMART
transmembrane domain	124	143	N/A	INTRINSIC
Pfam:FA_desaturase	156	418	5.2e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115995

SMART Domains

Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Cyt-b5	27	101	6.21e-16	SMART
Pfam:FA_desaturase	162	423	4.1e-35	PFAM

Meta Mutation Damage Score

0.9262

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (70/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 59,947,057 (GRCm39)	Y252H	probably damaging	Het
Aadat	T	C	8: 60,979,630 (GRCm39)	I164T	probably damaging	Het
Adam11	A	G	11: 102,664,479 (GRCm39)	H389R	probably benign	Het
Alkbh5	G	T	11: 60,429,529 (GRCm39)	R94L	possibly damaging	Het
Ampd3	A	G	7: 110,407,078 (GRCm39)	K644R	possibly damaging	Het
Ankhd1	T	A	18: 36,722,461 (GRCm39)	L328H	probably damaging	Het
Ankrd55	G	T	13: 112,455,036 (GRCm39)	V45F	probably damaging	Het
Apol7c	C	A	15: 77,410,347 (GRCm39)	V200F	probably damaging	Het
Arap1	G	A	7: 101,058,337 (GRCm39)	V721M	probably damaging	Het
Arhgef40	A	G	14: 52,227,156 (GRCm39)	D400G	probably damaging	Het
Bmp4	G	T	14: 46,621,950 (GRCm39)	T198K	possibly damaging	Het
Cblb	T	A	16: 52,025,016 (GRCm39)	F970L	probably damaging	Het
Celf5	A	G	10: 81,303,098 (GRCm39)	S148P	probably damaging	Het
Ckap5	T	A	2: 91,445,486 (GRCm39)	C1708S	possibly damaging	Het
Clec2l	T	C	6: 38,654,459 (GRCm39)	F147L	possibly damaging	Het
Cnksr1	T	A	4: 133,957,525 (GRCm39)	I465F	possibly damaging	Het
Coq10b	A	G	1: 55,092,143 (GRCm39)	D37G	probably benign	Het
Cpq	T	G	15: 33,213,250 (GRCm39)	Y90D	possibly damaging	Het
Depdc1a	G	A	3: 159,229,591 (GRCm39)		probably null	Het
Eif2ak4	T	A	2: 118,266,639 (GRCm39)		probably null	Het
Eif3e	C	T	15: 43,115,700 (GRCm39)	M355I	probably damaging	Het
Eif4e1b	G	A	13: 54,934,757 (GRCm39)	V181M	probably damaging	Het
Erap1	A	G	13: 74,794,680 (GRCm39)	E113G	probably damaging	Het
Fbl	T	A	7: 27,874,475 (GRCm39)	V67E	probably damaging	Het
Gde1	A	G	7: 118,304,629 (GRCm39)	L82P	probably damaging	Het
Gm10226	T	C	17: 21,910,884 (GRCm39)	S40P	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gm1988	T	A	7: 38,823,204 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,502 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Jag1	T	A	2: 136,927,014 (GRCm39)	Q915L	possibly damaging	Het
Kdm5d	G	A	Y: 941,645 (GRCm39)	G1282D	probably benign	Het
Krt87	A	T	15: 101,384,875 (GRCm39)	L407Q	probably damaging	Het
Mlf1	A	T	3: 67,301,296 (GRCm39)	H118L	probably damaging	Het
Mmp10	G	T	9: 7,505,603 (GRCm39)	C289F	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myo9a	T	A	9: 59,807,732 (GRCm39)	S2029T	probably damaging	Het
Nap1l4	A	C	7: 143,088,035 (GRCm39)	S174R	probably damaging	Het
Nos3	A	G	5: 24,576,942 (GRCm39)	T490A	probably benign	Het
Or12d2	T	A	17: 37,625,147 (GRCm39)	I43F	probably damaging	Het
Or4k35	T	A	2: 111,100,235 (GRCm39)	Q159L	possibly damaging	Het
Or5a1	A	G	19: 12,097,800 (GRCm39)	V80A	possibly damaging	Het
Or5b106	G	A	19: 13,123,865 (GRCm39)	L53F	probably damaging	Het
Or5g23	A	T	2: 85,438,718 (GRCm39)	C179S	probably damaging	Het
Pdlim7	G	C	13: 55,653,975 (GRCm39)	T214S	probably benign	Het
Piezo2	T	C	18: 63,197,802 (GRCm39)	E1578G	probably damaging	Het
Ptcd1	T	A	5: 145,084,715 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,897,277 (GRCm39)		probably null	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn2	A	G	11: 96,923,953 (GRCm39)	D279G	possibly damaging	Het
Sh2d3c	A	G	2: 32,635,914 (GRCm39)	D94G	probably damaging	Het
Slc12a4	A	T	8: 106,678,266 (GRCm39)	V309E	probably damaging	Het
Slc1a6	A	G	10: 78,623,637 (GRCm39)	E12G	probably damaging	Het
Smarcal1	T	C	1: 72,635,135 (GRCm39)		probably null	Het
Smr3a	T	C	5: 88,155,897 (GRCm39)		probably benign	Het
Stox2	A	G	8: 47,656,260 (GRCm39)	I72T	probably damaging	Het
Tmem234	G	T	4: 129,494,500 (GRCm39)		probably benign	Het
Tmem35b	A	G	4: 127,018,266 (GRCm39)	Q20R	possibly damaging	Het
Tom1l2	G	A	11: 60,132,634 (GRCm39)	H430Y	probably benign	Het
Tpo	T	C	12: 30,153,289 (GRCm39)	Y355C	probably damaging	Het
Tulp2	A	G	7: 45,166,075 (GRCm39)	N122S	possibly damaging	Het
Washc2	T	A	6: 116,236,111 (GRCm39)	L1194H	probably damaging	Het
Xbp1	T	C	11: 5,471,910 (GRCm39)	V12A	probably benign	Het

Other mutations in Fads2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
PIT4677001:Fads2	UTSW	19	10,047,694 (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
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'- GTTAAAGGCAGACGCGTAACC -3'
(R):5'- TGGTAAGTGGTGAGCCCTAG -3'

Sequencing Primer
(F):5'- CTCTCTGGGAGAAGGGACTG -3'
(R):5'- TGAGCCCTAGTCAGTAGCTGAG -3'

Posted On

2016-09-06