Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02122:Nacc2'

280673

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 #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

25945547-26012823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25979960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 159 (S159P)

Ref Sequence

ENSEMBL: ENSMUSP00000109796 (fasta)

Gene Model

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

AlphaFold

Q9DCM7

Predicted Effect

probably benign
Transcript: ENSMUST00000028300
AA Change: S159P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: S159P

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: S159P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: S159P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,217,299 (GRCm39)	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,507,491 (GRCm39)		probably benign	Het
Adcy5	G	A	16: 35,103,982 (GRCm39)		probably benign	Het
Adcy6	T	A	15: 98,496,763 (GRCm39)	H504L	possibly damaging	Het
Ank2	A	G	3: 126,731,523 (GRCm39)		probably benign	Het
Atxn2	A	G	5: 121,916,093 (GRCm39)	D34G	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil1	T	C	13: 24,220,541 (GRCm39)	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,877,038 (GRCm39)	I212V	probably benign	Het
Chl1	A	G	6: 103,652,098 (GRCm39)	D338G	probably benign	Het
Cog6	T	C	3: 52,905,763 (GRCm39)	I361V	probably benign	Het
Dip2c	T	C	13: 9,556,695 (GRCm39)	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,008 (GRCm39)	R34S	possibly damaging	Het
Exph5	A	G	9: 53,284,974 (GRCm39)	N685S	probably benign	Het
Flnc	A	T	6: 29,444,335 (GRCm39)	I684L	possibly damaging	Het
Foxk1	T	A	5: 142,437,184 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,502,819 (GRCm39)	N348S	probably benign	Het
Gspt1	T	C	16: 11,047,080 (GRCm39)	K445R	probably damaging	Het
Hace1	T	C	10: 45,494,700 (GRCm39)	V170A	probably damaging	Het
Hydin	T	C	8: 111,221,047 (GRCm39)	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,912,145 (GRCm39)	L36Q	possibly damaging	Het
Ints1	G	A	5: 139,750,905 (GRCm39)	Q833*	probably null	Het
Myo15a	T	C	11: 60,374,292 (GRCm39)	F96L	probably benign	Het
Myom1	G	T	17: 71,399,132 (GRCm39)	R998L	probably damaging	Het
Or5k15	T	C	16: 58,710,134 (GRCm39)	T150A	probably benign	Het
Or5w10	A	G	2: 87,375,447 (GRCm39)	V147A	probably benign	Het
Or7e177	T	A	9: 20,211,880 (GRCm39)	L128Q	probably damaging	Het
Pbrm1	A	G	14: 30,811,573 (GRCm39)	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,674,737 (GRCm39)	R60C	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,157,796 (GRCm39)	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,308,313 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,667,680 (GRCm39)	Y332H	probably benign	Het
Prpf38a	A	G	4: 108,436,238 (GRCm39)	I25T	possibly damaging	Het
Rpf1	T	C	3: 146,227,022 (GRCm39)	K44E	probably benign	Het
Rusc2	T	C	4: 43,421,685 (GRCm39)	F702L	possibly damaging	Het
Ryr2	A	T	13: 11,756,755 (GRCm39)	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Tkt	T	C	14: 30,293,158 (GRCm39)	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,481,240 (GRCm39)	N249K	probably damaging	Het
Tmpo	A	T	10: 90,999,998 (GRCm39)	S157T	possibly damaging	Het
Tspan32	A	T	7: 142,569,372 (GRCm39)	I144F	probably damaging	Het
Ufsp2	G	A	8: 46,448,685 (GRCm39)	V429I	probably benign	Het
Unc13c	T	A	9: 73,641,679 (GRCm39)		probably benign	Het
Usp47	A	T	7: 111,706,115 (GRCm39)	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,340,946 (GRCm39)		probably benign	Het
Zfp507	G	T	7: 35,475,520 (GRCm39)	L898I	probably 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
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
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

2015-04-16