Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Nacc2'

361650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nacc2

Ensembl Gene

ENSMUSG00000026932

Gene Name

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

Synonyms

0610020I02Rik, Btbd14a, C030048H19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

25945547-26012823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25980329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 36 (V36I)

Ref Sequence

ENSEMBL: ENSMUSP00000120198 (fasta)

Gene Model

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

AlphaFold

Q9DCM7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028300
AA Change: V36I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: V36I

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: V36I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: V36I

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 damaging
Transcript: ENSMUST00000140993
AA Change: V36I

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

SMART Domains

Protein: ENSMUSP00000120198
Gene: ENSMUSG00000026932
AA Change: V36I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	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
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
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

Posted On

2015-12-18