Mutagenetix > Incidental Mutation

Incidental Mutation 'R2392:Hacd2'

247835

Institutional Source

Beutler Lab

Gene Symbol

Hacd2

Ensembl Gene

ENSMUSG00000035376

Gene Name

3-hydroxyacyl-CoA dehydratase 2

Synonyms

Ptplb, 6330408J20Rik

MMRRC Submission

040360-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R2392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34842798-34929547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34926748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 249 (E249V)

Ref Sequence

ENSEMBL: ENSMUSP00000060462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061156]

AlphaFold

Q9D3B1

Predicted Effect

probably benign
Transcript: ENSMUST00000061156
AA Change: E249V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000060462
Gene: ENSMUSG00000035376
AA Change: E249V

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	12	27	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
Pfam:PTPLA	85	246	1.4e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231556

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (53/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,297,264 (GRCm39)	S2409T	probably damaging	Het
Acap2	A	G	16: 30,958,458 (GRCm39)	F120S	probably damaging	Het
Akr1c6	A	G	13: 4,484,477 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,963,573 (GRCm39)	A1874S	probably damaging	Het
Ccnl1	A	G	3: 65,856,173 (GRCm39)	V244A	probably damaging	Het
Cenpe	T	G	3: 134,953,874 (GRCm39)	L1628R	probably damaging	Het
Cfap54	A	G	10: 92,860,873 (GRCm39)		probably null	Het
Chchd7	T	A	4: 3,943,381 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crybg2	G	T	4: 133,799,925 (GRCm39)	V362L	probably benign	Het
Ddx11	T	A	17: 66,456,968 (GRCm39)	V791E	probably damaging	Het
Disp1	G	A	1: 182,868,731 (GRCm39)	P1230S	probably benign	Het
Elp5	T	C	11: 69,865,928 (GRCm39)	H116R	probably benign	Het
Epb42	T	C	2: 120,860,468 (GRCm39)	E177G	possibly damaging	Het
F13a1	T	A	13: 37,127,971 (GRCm39)	I336F	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcsk	A	G	8: 111,616,356 (GRCm39)	M453T	probably benign	Het
Hnrnpf	C	A	6: 117,901,829 (GRCm39)	A371D	possibly damaging	Het
Jmjd1c	A	G	10: 67,065,683 (GRCm39)	T1703A	probably damaging	Het
Kcnj13	G	A	1: 87,314,622 (GRCm39)	T200I	possibly damaging	Het
Kif1b	G	A	4: 149,305,077 (GRCm39)	T949M	possibly damaging	Het
Klhl35	G	A	7: 99,123,031 (GRCm39)	A552T	possibly damaging	Het
Krt74	A	G	15: 101,665,236 (GRCm39)		noncoding transcript	Het
Krtap14	T	A	16: 88,622,597 (GRCm39)		probably null	Het
Lrrc45	A	G	11: 120,610,365 (GRCm39)	N492S	probably benign	Het
Lrrcc1	T	A	3: 14,601,580 (GRCm39)	N114K	probably damaging	Het
Mfsd2b	T	C	12: 4,915,164 (GRCm39)	D375G	possibly damaging	Het
Mgat4a	A	G	1: 37,537,785 (GRCm39)	L44P	probably damaging	Het
Mttp	A	C	3: 137,800,782 (GRCm39)	D774E	probably damaging	Het
Myo5a	T	C	9: 75,116,521 (GRCm39)	V1554A	probably benign	Het
Nes	C	T	3: 87,883,250 (GRCm39)	A503V	probably benign	Het
Nme8	A	G	13: 19,873,113 (GRCm39)		probably null	Het
Nr4a1	A	G	15: 101,172,075 (GRCm39)	D583G	possibly damaging	Het
Or12d17	A	G	17: 37,777,310 (GRCm39)	Y71C	probably damaging	Het
Or5k14	A	G	16: 58,692,797 (GRCm39)	S239P	probably damaging	Het
Pnpla8	T	A	12: 44,358,287 (GRCm39)	L746I	probably damaging	Het
Ppp1r7	A	T	1: 93,282,063 (GRCm39)	I205F	probably benign	Het
Psd4	C	A	2: 24,284,679 (GRCm39)	P181Q	probably damaging	Het
Ripor2	G	A	13: 24,890,206 (GRCm39)	V694I	probably benign	Het
Scn10a	A	G	9: 119,456,268 (GRCm39)	S1185P	possibly damaging	Het
Sec23b	T	A	2: 144,427,507 (GRCm39)		probably null	Het
Slfn2	A	G	11: 82,956,154 (GRCm39)	N12S	possibly damaging	Het
Slfn4	A	G	11: 83,076,248 (GRCm39)	K38R	possibly damaging	Het
Smarca2	G	T	19: 26,618,050 (GRCm39)		probably null	Het
Taar4	A	G	10: 23,837,172 (GRCm39)	T261A	possibly damaging	Het
Tbl2	A	G	5: 135,185,368 (GRCm39)	D159G	probably benign	Het
Tmem120a	T	C	5: 135,770,892 (GRCm39)	E55G	probably damaging	Het
Ttc21b	A	G	2: 66,037,794 (GRCm39)		probably null	Het
Vill	A	T	9: 118,896,628 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,487,130 (GRCm39)	M511K	probably damaging	Het
Vmn2r81	A	T	10: 79,110,516 (GRCm39)	D543V	probably damaging	Het
Wdr95	A	G	5: 149,504,135 (GRCm39)	T314A	probably benign	Het
Zbtb8b	A	G	4: 129,326,982 (GRCm39)	I61T	probably damaging	Het

Other mutations in Hacd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Hacd2	APN	16	34,869,083 (GRCm39)	splice site	probably benign
IGL02454:Hacd2	APN	16	34,926,761 (GRCm39)	missense	probably benign	0.03
R0057:Hacd2	UTSW	16	34,895,997 (GRCm39)	missense	probably damaging	1.00
R0057:Hacd2	UTSW	16	34,895,997 (GRCm39)	missense	probably damaging	1.00
R1831:Hacd2	UTSW	16	34,922,434 (GRCm39)	missense	probably damaging	1.00
R1945:Hacd2	UTSW	16	34,922,354 (GRCm39)	missense	possibly damaging	0.82
R2097:Hacd2	UTSW	16	34,869,090 (GRCm39)	missense	probably benign	0.01
R4962:Hacd2	UTSW	16	34,842,921 (GRCm39)	missense	unknown
R5731:Hacd2	UTSW	16	34,922,374 (GRCm39)	missense	probably damaging	1.00
R7751:Hacd2	UTSW	16	34,922,434 (GRCm39)	missense	probably damaging	1.00
R7850:Hacd2	UTSW	16	34,922,477 (GRCm39)	missense	probably damaging	1.00
R9101:Hacd2	UTSW	16	34,920,156 (GRCm39)	missense	probably benign	0.43
Z1176:Hacd2	UTSW	16	34,926,695 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTGCTCCCATTGGTCACTG -3'
(R):5'- AGGACCAGCTAGGATGCTTTATG -3'

Sequencing Primer
(F):5'- CTCCCATTGGTCACTGGATGAGAG -3'
(R):5'- CCAGCTAGGATGCTTTATGTAACAG -3'

Posted On

2014-11-11