Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Acnat2'

391682

Institutional Source

Beutler Lab

Gene Symbol

Acnat2

Ensembl Gene

ENSMUSG00000060317

Gene Name

acyl-coenzyme A amino acid N-acyltransferase 2

Synonyms

C730036D15Rik

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49379840-49408151 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49380631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 231 (K231R)

Ref Sequence

ENSEMBL: ENSMUSP00000103326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081541] [ENSMUST00000107698] [ENSMUST00000125123]

AlphaFold

Q8BGG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000081541
AA Change: K249R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: K249R

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	15	144	6e-44	PFAM
low complexity region	149	173	N/A	INTRINSIC
Pfam:BAAT_C	206	415	2e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107698
AA Change: K231R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: K231R

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	14	145	9.8e-42	PFAM
Pfam:BAAT_C	188	397	6.6e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125123

SMART Domains

Protein: ENSMUSP00000119135
Gene: ENSMUSG00000060317

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	14	145	2.4e-42	PFAM
low complexity region	149	173	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139564

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,664,514	N136S	probably damaging	Het
Abca13	A	T	11: 9,297,678	N2475I	probably damaging	Het
Ank1	C	T	8: 23,099,680	P599L	probably damaging	Het
Arhgef19	A	G	4: 141,250,810	E580G	probably damaging	Het
Atr	A	G	9: 95,865,702	K346E	probably damaging	Het
AU021092	T	C	16: 5,212,604	K309E	probably damaging	Het
Baz2b	T	C	2: 59,912,807	R1607G	probably benign	Het
Cct8	C	T	16: 87,487,538	V254M	probably damaging	Het
Cdca2	T	A	14: 67,713,153	I110F	probably damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,764,236	I105V	probably benign	Het
Dock1	A	G	7: 135,152,246	D1584G	probably benign	Het
Epg5	G	A	18: 78,028,948	V2392I	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gsap	G	A	5: 21,242,826	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,599,604	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,588,257	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,950,104	R36*	probably null	Het
Ints2	G	A	11: 86,256,200	P40L	probably damaging	Het
Irs1	A	T	1: 82,286,967	L1176*	probably null	Het
Klhl29	C	T	12: 5,091,334	R550Q	probably benign	Het
Kyat1	A	G	2: 30,188,090	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,700,619	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,380,104	S919P	unknown	Het
Mettl16	A	T	11: 74,802,999	I279F	probably benign	Het
Mrgpra1	A	T	7: 47,335,237	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mut	T	C	17: 40,938,827	F231S	possibly damaging	Het
Mvp	A	C	7: 126,993,616	Y374*	probably null	Het
Nabp2	G	A	10: 128,409,628		probably benign	Het
Nos1	C	T	5: 117,879,313	P247L	probably benign	Het
Olfr1015	T	A	2: 85,785,718	L69*	probably null	Het
Olfr1115	C	A	2: 87,252,082	F48L	probably benign	Het
Pik3cb	C	T	9: 99,071,408	D441N	probably damaging	Het
Qrich1	C	T	9: 108,541,736	P464S	possibly damaging	Het
Rab17	A	T	1: 90,960,138		probably null	Het
Rspo3	A	T	10: 29,506,447	L77H	probably damaging	Het
Spn	G	T	7: 127,137,230	T35K	probably benign	Het
Sult1d1	T	A	5: 87,559,844	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 56,123,531	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,596,933	V115A	probably benign	Het
Tram1l1	T	A	3: 124,321,644	L151*	probably null	Het
Trappc12	T	A	12: 28,692,513	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,753,599	T31P	probably damaging	Het
Trpm8	A	G	1: 88,348,188	T503A	probably benign	Het
Virma	T	A	4: 11,542,116	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,776,681	K192*	probably null	Het
Zfp521	T	A	18: 13,844,273	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,317,398	Q205L	probably benign	Het

Other mutations in Acnat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Acnat2	APN	4	49383250	missense	probably damaging	1.00
IGL01321:Acnat2	APN	4	49380269	missense	probably damaging	0.99
IGL01891:Acnat2	APN	4	49383395	missense	probably benign	0.00
IGL01993:Acnat2	APN	4	49380131	missense	probably benign	0.00
IGL02517:Acnat2	APN	4	49380639	nonsense	probably null
IGL02517:Acnat2	APN	4	49380647	missense	possibly damaging	0.79
IGL03249:Acnat2	APN	4	49381787	missense	probably benign	0.00
PIT4494001:Acnat2	UTSW	4	49383133	missense	probably benign	0.16
R0050:Acnat2	UTSW	4	49380586	missense	probably benign	0.03
R0462:Acnat2	UTSW	4	49383084	critical splice donor site	probably null
R0482:Acnat2	UTSW	4	49383534	missense	probably benign	0.09
R0590:Acnat2	UTSW	4	49383273	missense	probably benign	0.00
R0616:Acnat2	UTSW	4	49380269	missense	probably damaging	0.99
R1099:Acnat2	UTSW	4	49380484	missense	probably benign	0.01
R1678:Acnat2	UTSW	4	49380568	missense	probably damaging	0.98
R1710:Acnat2	UTSW	4	49380587	missense	probably benign	0.16
R2190:Acnat2	UTSW	4	49383551	start codon destroyed	probably benign
R4863:Acnat2	UTSW	4	49380172	missense	probably damaging	1.00
R5194:Acnat2	UTSW	4	49380452	missense	probably benign
R5936:Acnat2	UTSW	4	49383362	missense	probably benign	0.00
R6451:Acnat2	UTSW	4	49380262	missense	probably benign	0.00
R6526:Acnat2	UTSW	4	49383497	missense	probably benign	0.00
R6759:Acnat2	UTSW	4	49380254	missense	probably benign	0.01
R7180:Acnat2	UTSW	4	49381803	nonsense	probably null
R7356:Acnat2	UTSW	4	49383507	missense	probably damaging	1.00
R7879:Acnat2	UTSW	4	49383299	missense	probably damaging	1.00
R9626:Acnat2	UTSW	4	49380179	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGGATTTTCCCCTGGGC -3'
(R):5'- AGCTGGAAGACCTGAGTGTCAG -3'

Sequencing Primer
(F):5'- GGCCTTTTCCACGGGAAGTATATTC -3'
(R):5'- CAGAGTTTGACTGTTTTGAATGCC -3'

Posted On

2016-06-06