Mutagenetix > Incidental Mutation

Incidental Mutation 'R2172:Nacc2'

237520

Institutional Source

Beutler Lab

Gene Symbol

Nacc2

Ensembl Gene

ENSMUSG00000026932

Gene Name

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

Synonyms

0610020I02Rik, Btbd14a, C030048H19Rik

MMRRC Submission

040174-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25945547-26012823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25950235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 500 (D500E)

Ref Sequence

ENSEMBL: ENSMUSP00000109796 (fasta)

Gene Model

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

AlphaFold

Q9DCM7

Predicted Effect

probably benign
Transcript: ENSMUST00000028300
AA Change: D500E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: D500E

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

probably benign
Transcript: ENSMUST00000114159
AA Change: D500E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: D500E

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: ENSMUST00000126921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152133

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 38,123,613 (GRCm39)	E441V	probably damaging	Het
Arfip2	T	A	7: 105,287,195 (GRCm39)	D64V	probably damaging	Het
Atg9a	C	A	1: 75,162,329 (GRCm39)	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,497,864 (GRCm39)	I308L	probably benign	Het
Bcan	T	A	3: 87,903,888 (GRCm39)	Y199F	probably damaging	Het
Bsn	T	C	9: 107,987,191 (GRCm39)		probably benign	Het
Ccdc158	A	T	5: 92,780,367 (GRCm39)	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,163,672 (GRCm39)	Y492C	probably benign	Het
Dnah9	G	T	11: 65,963,605 (GRCm39)	H1783N	probably damaging	Het
Dpep2	A	G	8: 106,715,630 (GRCm39)	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,178,559 (GRCm39)	Y282H	probably damaging	Het
Egfr	C	T	11: 16,861,562 (GRCm39)	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,530,477 (GRCm39)	S560P	probably damaging	Het
Gm14295	G	A	2: 176,502,895 (GRCm39)	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,212,471 (GRCm39)	V51I	probably benign	Het
Gsap	G	A	5: 21,427,438 (GRCm39)		probably null	Het
Hecw1	T	A	13: 14,552,291 (GRCm39)	I103F	probably damaging	Het
Herc3	T	A	6: 58,864,422 (GRCm39)	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,273,643 (GRCm39)	D244E	probably benign	Het
Hydin	A	G	8: 111,308,681 (GRCm39)	E3989G	probably benign	Het
Ibsp	T	C	5: 104,458,296 (GRCm39)	Y278H	probably damaging	Het
Ift57	T	G	16: 49,579,703 (GRCm39)	N291K	probably benign	Het
Il15ra	A	G	2: 11,728,382 (GRCm39)	T149A	possibly damaging	Het
Ints5	C	T	19: 8,873,646 (GRCm39)	T535I	possibly damaging	Het
Jarid2	T	C	13: 45,056,015 (GRCm39)	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Lrrc49	A	G	9: 60,509,965 (GRCm39)	V429A	probably benign	Het
Lsm3	T	C	6: 91,499,254 (GRCm39)	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map1a	G	T	2: 121,138,413 (GRCm39)	V2726L	probably damaging	Het
Marveld3	A	C	8: 110,688,478 (GRCm39)	S88A	probably benign	Het
Mcm9	T	C	10: 53,424,670 (GRCm39)	D640G	probably damaging	Het
Mettl4	A	G	17: 95,040,591 (GRCm39)	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,379 (GRCm39)	L274*	probably null	Het
Nprl3	T	A	11: 32,184,894 (GRCm39)	M372L	probably benign	Het
Or5p6	A	T	7: 107,630,674 (GRCm39)	I292N	probably damaging	Het
Otud7b	T	G	3: 96,060,837 (GRCm39)		probably null	Het
Pcx	G	A	19: 4,670,909 (GRCm39)	R1070H	probably benign	Het
Ptprq	C	T	10: 107,426,855 (GRCm39)	W1560*	probably null	Het
Puf60	A	T	15: 75,942,313 (GRCm39)	I520N	probably damaging	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Rfx3	G	A	19: 27,792,894 (GRCm39)	Q322*	probably null	Het
Samd14	G	T	11: 94,905,217 (GRCm39)	V10L	probably benign	Het
Setd2	G	A	9: 110,378,912 (GRCm39)	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,749,316 (GRCm39)	S117P	probably benign	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skor1	C	A	9: 63,052,404 (GRCm39)	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,119,638 (GRCm39)	T375A	probably benign	Het
Sparc	G	A	11: 55,286,627 (GRCm39)	Q324*	probably null	Het
Spopfm2	T	G	3: 94,083,605 (GRCm39)	K69Q	possibly damaging	Het
Srebf1	T	C	11: 60,097,328 (GRCm39)	T171A	probably benign	Het
Srrd	A	G	5: 112,488,988 (GRCm39)	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,133,235 (GRCm39)	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,148,274 (GRCm39)	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721 (GRCm39)	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,205,859 (GRCm39)	S516N	probably damaging	Het
Trpa1	T	A	1: 14,951,880 (GRCm39)	T940S	probably benign	Het
Trpv4	G	A	5: 114,782,771 (GRCm39)	R64C	probably damaging	Het
Tufm	A	G	7: 126,088,019 (GRCm39)	E174G	probably benign	Het
Urb2	A	G	8: 124,757,841 (GRCm39)	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843 (GRCm39)	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,477,614 (GRCm39)	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,544,694 (GRCm39)	F277L	probably damaging	Het
Zfp683	C	T	4: 133,783,106 (GRCm39)	T190I	possibly damaging	Het

Other mutations in Nacc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Nacc2	APN	2	25,979,702 (GRCm39)	missense	probably benign
IGL00906:Nacc2	APN	2	25,951,678 (GRCm39)	missense	probably damaging	1.00
IGL02122:Nacc2	APN	2	25,979,960 (GRCm39)	missense	probably benign	0.04
IGL02836:Nacc2	APN	2	25,980,329 (GRCm39)	missense	probably damaging	1.00
IGL03355:Nacc2	APN	2	25,952,249 (GRCm39)	missense	probably damaging	1.00
R0239:Nacc2	UTSW	2	25,952,273 (GRCm39)	missense	probably damaging	1.00
R0239:Nacc2	UTSW	2	25,952,273 (GRCm39)	missense	probably damaging	1.00
R0326:Nacc2	UTSW	2	25,950,345 (GRCm39)	missense	probably damaging	1.00
R0553:Nacc2	UTSW	2	25,979,602 (GRCm39)	missense	possibly damaging	0.75
R1743:Nacc2	UTSW	2	25,950,155 (GRCm39)	missense	probably benign
R2497:Nacc2	UTSW	2	25,979,580 (GRCm39)	nonsense	probably null
R4027:Nacc2	UTSW	2	25,950,348 (GRCm39)	missense	probably benign	0.11
R4724:Nacc2	UTSW	2	25,980,185 (GRCm39)	missense	probably damaging	1.00
R5045:Nacc2	UTSW	2	25,980,150 (GRCm39)	splice site	probably null
R5151:Nacc2	UTSW	2	25,980,365 (GRCm39)	missense	probably damaging	1.00
R5198:Nacc2	UTSW	2	25,950,346 (GRCm39)	missense	probably benign	0.22
R5905:Nacc2	UTSW	2	25,951,590 (GRCm39)	missense	probably damaging	1.00
R6028:Nacc2	UTSW	2	25,951,590 (GRCm39)	missense	probably damaging	1.00
R6257:Nacc2	UTSW	2	25,950,420 (GRCm39)	missense	probably damaging	1.00
R6924:Nacc2	UTSW	2	25,980,041 (GRCm39)	missense	probably damaging	0.97
R8263:Nacc2	UTSW	2	25,952,240 (GRCm39)	missense	probably damaging	0.99
R8936:Nacc2	UTSW	2	25,952,216 (GRCm39)	missense	probably benign	0.16
R9035:Nacc2	UTSW	2	25,951,605 (GRCm39)	missense	probably damaging	1.00
R9200:Nacc2	UTSW	2	25,980,118 (GRCm39)	missense	probably damaging	0.98
R9395:Nacc2	UTSW	2	25,950,128 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTGTTGCCCTGCTCAAAG -3'
(R):5'- GCGAGATGAACGTGATTGCC -3'

Sequencing Primer
(F):5'- TGCTCAAAGGCCTGAGGG -3'
(R):5'- ATTGCCGCAGACATGTGTAC -3'

Posted On

2014-10-02