Mutagenetix > Incidental Mutation

Incidental Mutation 'R4027:Nacc2'

313010

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

040850-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4027 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

25945547-26012823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25950348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 463 (M463L)

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: M463L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: M463L

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: M463L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: M463L

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

Meta Mutation Damage Score

0.0958

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	G	2: 35,270,408 (GRCm39)	F98L	probably damaging	Het
Adam26b	T	C	8: 43,973,409 (GRCm39)	N531S	probably benign	Het
Ahdc1	T	C	4: 132,791,476 (GRCm39)	S906P	possibly damaging	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Ano10	A	G	9: 122,081,994 (GRCm39)		probably benign	Het
Atp4a	T	C	7: 30,424,377 (GRCm39)		probably null	Het
C030005K15Rik	T	C	10: 97,561,404 (GRCm39)	Y109C	unknown	Het
Carmil1	T	A	13: 24,251,206 (GRCm39)		probably benign	Het
Ccl2	A	G	11: 81,927,885 (GRCm39)	R110G	probably benign	Het
Cntnap2	C	A	6: 46,833,062 (GRCm39)	F758L	probably benign	Het
Cog6	A	C	3: 52,909,950 (GRCm39)	D267E	possibly damaging	Het
Cyp4f37	G	T	17: 32,850,646 (GRCm39)	E366D	probably benign	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Dpep1	T	C	8: 123,920,892 (GRCm39)	V24A	probably benign	Het
Eefsec	T	C	6: 88,353,232 (GRCm39)	I48V	probably benign	Het
Elmo2	G	A	2: 165,136,169 (GRCm39)	Q195*	probably null	Het
Ephb3	A	G	16: 21,040,447 (GRCm39)	D561G	probably damaging	Het
Erich2	C	A	2: 70,343,134 (GRCm39)		probably benign	Het
Gatm	A	G	2: 122,427,927 (GRCm39)	V362A	probably damaging	Het
Gdf10	A	G	14: 33,654,572 (GRCm39)	M360V	probably damaging	Het
Gpr141	T	C	13: 19,935,995 (GRCm39)	N260S	probably benign	Het
Hectd1	T	A	12: 51,849,219 (GRCm39)		probably null	Het
Insrr	A	G	3: 87,716,906 (GRCm39)	E682G	probably benign	Het
Itgax	A	G	7: 127,740,438 (GRCm39)	I742V	possibly damaging	Het
Kcnh1	T	C	1: 191,959,007 (GRCm39)	V187A	probably benign	Het
Kdm6b	G	T	11: 69,297,094 (GRCm39)	S419R	possibly damaging	Het
Kmt2a	A	T	9: 44,747,990 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,277,019 (GRCm39)		probably benign	Het
Lct	G	A	1: 128,212,918 (GRCm39)	R1912C	probably benign	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Mast3	A	G	8: 71,240,552 (GRCm39)	L279P	probably damaging	Het
Mfsd4b3-ps	T	C	10: 39,823,343 (GRCm39)	T306A	probably benign	Het
Mgam	G	A	6: 40,731,836 (GRCm39)	R1351Q	probably damaging	Het
Mknk1	T	A	4: 115,721,758 (GRCm39)	F101I	probably damaging	Het
Mlc1	T	C	15: 88,850,697 (GRCm39)	I154V	probably benign	Het
Myo5b	T	C	18: 74,892,311 (GRCm39)	I1685T	possibly damaging	Het
Nek11	A	C	9: 105,121,589 (GRCm39)	Y443*	probably null	Het
Nme4	T	C	17: 26,313,196 (GRCm39)		probably null	Het
Nova1	A	G	12: 46,863,801 (GRCm39)		probably benign	Het
Or52h9	A	T	7: 104,202,530 (GRCm39)	I135F	possibly damaging	Het
Parp10	A	G	15: 76,125,354 (GRCm39)		probably null	Het
Pkd1l3	T	A	8: 110,350,603 (GRCm39)	S483T	possibly damaging	Het
Plce1	T	C	19: 38,512,709 (GRCm39)	S3P	probably damaging	Het
Pnldc1	T	C	17: 13,109,666 (GRCm39)	D400G	probably benign	Het
Polr2b	G	A	5: 77,496,252 (GRCm39)	R1141H	possibly damaging	Het
Prmt6	A	G	3: 110,157,257 (GRCm39)	I344T	probably damaging	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Ranbp17	C	T	11: 33,450,718 (GRCm39)	R73Q	possibly damaging	Het
Rcn1	G	T	2: 105,229,395 (GRCm39)	Y52*	probably null	Het
Reck	T	C	4: 43,922,931 (GRCm39)	I402T	probably damaging	Het
Tecpr1	C	A	5: 144,143,077 (GRCm39)	A735S	probably benign	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ube4a	G	A	9: 44,861,198 (GRCm39)		probably benign	Het
Vldlr	A	G	19: 27,215,713 (GRCm39)	T237A	probably benign	Het
Vmn1r74	C	A	7: 11,580,898 (GRCm39)	T66K	probably damaging	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Zmym1	C	T	4: 126,943,672 (GRCm39)	V239I	probably benign	Het
Zmym5	T	A	14: 57,035,268 (GRCm39)	T267S	probably benign	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
R2172:Nacc2	UTSW	2	25,950,235 (GRCm39)	missense	probably benign	0.00
R2497:Nacc2	UTSW	2	25,979,580 (GRCm39)	nonsense	probably null
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'- CCTCCTCATTAGCCTCAAAGG -3'
(R):5'- TGGACACTTAGGCAGCAGTG -3'

Sequencing Primer
(F):5'- CCTCAAAGGCAGGGTTGG -3'
(R):5'- AGGGAGAGGCTGCTCTGAC -3'

Posted On

2015-04-30