Mutagenetix > Incidental Mutations

Incidental Mutation 'R0553:Nacc2'

45266

Institutional Source

Beutler Lab

Gene Symbol

Nacc2

Ensembl Gene

ENSMUSG00000026932

Gene Name

nucleus accumbens associated 2, BEN and BTB (POZ) domain containing

Synonyms

0610020I02Rik, C030048H19Rik, Btbd14a

MMRRC Submission

038745-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26055535-26123220 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26089590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 278 (E278V)

Ref Sequence

ENSEMBL: ENSMUSP00000109796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028300] [ENSMUST00000114159] [ENSMUST00000140993]

AlphaFold

Q9DCM7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028300
AA Change: E278V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: E278V

Domain	Start	End	E-Value	Type
BTB	30	124	8.41e-23	SMART
low complexity region	198	213	N/A	INTRINSIC
low complexity region	264	271	N/A	INTRINSIC
BEN	371	449	4.33e-15	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114159
AA Change: E278V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: E278V

Domain	Start	End	E-Value	Type
BTB	30	124	8.41e-23	SMART
low complexity region	198	213	N/A	INTRINSIC
low complexity region	264	271	N/A	INTRINSIC
BEN	371	449	4.33e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133212

Predicted Effect

probably benign
Transcript: ENSMUST00000140993

SMART Domains

Protein: ENSMUSP00000120198
Gene: ENSMUSG00000026932

Domain	Start	End	E-Value	Type
Pfam:BTB	20	85	1.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152133

Meta Mutation Damage Score

0.1235

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,686	I729V	probably damaging	Het
9530002B09Rik	A	T	4: 122,702,335	M120L	unknown	Het
Adamts13	T	A	2: 26,991,334	C774*	probably null	Het
Amh	A	G	10: 80,806,176		probably benign	Het
Ccdc173	C	A	2: 69,789,441	R8L	probably damaging	Het
Cd40	G	A	2: 165,070,741	R204Q	probably benign	Het
Clhc1	A	C	11: 29,561,366		probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	A	T	3: 93,203,584	H973L	unknown	Het
Fut2	T	A	7: 45,651,274	I25F	probably damaging	Het
Galnt7	T	C	8: 57,552,430		probably benign	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Gm7534	T	C	4: 134,202,518	T159A	possibly damaging	Het
Gm8909	G	T	17: 36,168,057	P100Q	probably damaging	Het
Gmppb	A	T	9: 108,049,797	M56L	probably benign	Het
Grm3	C	A	5: 9,570,048	A399S	probably benign	Het
Hey2	G	A	10: 30,840,489		probably benign	Het
Ift172	A	G	5: 31,275,842		probably benign	Het
Kcnh5	C	A	12: 75,137,673	C92F	probably benign	Het
Kdm1a	T	C	4: 136,555,298	D229G	probably damaging	Het
Klf11	C	G	12: 24,655,090	P164R	probably benign	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,251,803	V6A	probably benign	Het
Ltbr	A	C	6: 125,313,388		probably null	Het
Mmp17	T	G	5: 129,598,670	S298A	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,155	Y185N	probably damaging	Het
Olfr875	T	A	9: 37,773,331	I224N	probably benign	Het
Otop2	C	T	11: 115,329,462	A376V	probably damaging	Het
Pdia2	T	C	17: 26,196,243	E504G	probably damaging	Het
Pdzph1	C	T	17: 58,922,727	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,509,477	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,710,627	F269L	probably benign	Het
Rb1	A	T	14: 73,211,712	C659*	probably null	Het
Rnf8	T	C	17: 29,621,639		probably null	Het
Rras	T	G	7: 45,020,556	I137M	probably benign	Het
Slc38a9	A	T	13: 112,714,198	H372L	probably damaging	Het
Spata9	T	C	13: 75,977,779		probably null	Het
Tas2r115	T	C	6: 132,737,959	T10A	probably benign	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Unc80	A	T	1: 66,506,669	I460F	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,451,997	A293V	possibly damaging	Het

Other mutations in Nacc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Nacc2	APN	2	26089690	missense	probably benign
IGL00906:Nacc2	APN	2	26061666	missense	probably damaging	1.00
IGL02122:Nacc2	APN	2	26089948	missense	probably benign	0.04
IGL02836:Nacc2	APN	2	26090317	missense	probably damaging	1.00
IGL03355:Nacc2	APN	2	26062237	missense	probably damaging	1.00
R0239:Nacc2	UTSW	2	26062261	missense	probably damaging	1.00
R0239:Nacc2	UTSW	2	26062261	missense	probably damaging	1.00
R0326:Nacc2	UTSW	2	26060333	missense	probably damaging	1.00
R1743:Nacc2	UTSW	2	26060143	missense	probably benign
R2172:Nacc2	UTSW	2	26060223	missense	probably benign	0.00
R2497:Nacc2	UTSW	2	26089568	nonsense	probably null
R4027:Nacc2	UTSW	2	26060336	missense	probably benign	0.11
R4724:Nacc2	UTSW	2	26090173	missense	probably damaging	1.00
R5045:Nacc2	UTSW	2	26090138	splice site	probably null
R5151:Nacc2	UTSW	2	26090353	missense	probably damaging	1.00
R5198:Nacc2	UTSW	2	26060334	missense	probably benign	0.22
R5905:Nacc2	UTSW	2	26061578	missense	probably damaging	1.00
R6028:Nacc2	UTSW	2	26061578	missense	probably damaging	1.00
R6257:Nacc2	UTSW	2	26060408	missense	probably damaging	1.00
R6924:Nacc2	UTSW	2	26090029	missense	probably damaging	0.97
R8263:Nacc2	UTSW	2	26062228	missense	probably damaging	0.99
R8936:Nacc2	UTSW	2	26062204	missense	probably benign	0.16
R9035:Nacc2	UTSW	2	26061593	missense	probably damaging	1.00
R9200:Nacc2	UTSW	2	26090106	missense	probably damaging	0.98
R9395:Nacc2	UTSW	2	26060116	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATAGAGACCTTCCACAGCAGG -3'
(R):5'- GGCTTCTAAACGCCCACTAGAGAC -3'

Sequencing Primer
(F):5'- GCAGGCTACAATCATCAGAAAG -3'
(R):5'- CCTCTGAAGCTGCCTCG -3'

Posted On

2013-06-11