Incidental Mutation 'R0553:Nacc2'
| ID |
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, Btbd14a, C030048H19Rik |
| MMRRC Submission |
038745-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0553 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25945547-26012823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25979602 bp (GRCm39)
|
| 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 |
|---|
| 9530002B09Rik |
A |
T |
4: 122,596,128 (GRCm39) |
M120L |
unknown |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
| Adamts13 |
T |
A |
2: 26,881,346 (GRCm39) |
C774* |
probably null |
Het |
| Amh |
A |
G |
10: 80,642,010 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,143 (GRCm39) |
I729V |
probably damaging |
Het |
| Cd40 |
G |
A |
2: 164,912,661 (GRCm39) |
R204Q |
probably benign |
Het |
| Cfap210 |
C |
A |
2: 69,619,785 (GRCm39) |
R8L |
probably damaging |
Het |
| Clhc1 |
A |
C |
11: 29,511,366 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,891 (GRCm39) |
H973L |
unknown |
Het |
| Fut2 |
T |
A |
7: 45,300,698 (GRCm39) |
I25F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,005,464 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
A |
T |
9: 107,926,996 (GRCm39) |
M56L |
probably benign |
Het |
| Grm3 |
C |
A |
5: 9,620,048 (GRCm39) |
A399S |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,478,949 (GRCm39) |
P100Q |
probably damaging |
Het |
| Hey2 |
G |
A |
10: 30,716,485 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,186 (GRCm39) |
|
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,184,447 (GRCm39) |
C92F |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,282,609 (GRCm39) |
D229G |
probably damaging |
Het |
| Klf11 |
C |
G |
12: 24,705,089 (GRCm39) |
P164R |
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,409,147 (GRCm39) |
V6A |
probably benign |
Het |
| Ltbr |
A |
C |
6: 125,290,351 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
T |
G |
5: 129,675,734 (GRCm39) |
S298A |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,518 (GRCm39) |
Y185N |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,627 (GRCm39) |
I224N |
probably benign |
Het |
| Otop2 |
C |
T |
11: 115,220,288 (GRCm39) |
A376V |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,415,217 (GRCm39) |
E504G |
probably damaging |
Het |
| Pdzph1 |
C |
T |
17: 59,229,722 (GRCm39) |
V979M |
probably damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,374 (GRCm39) |
K86R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,546,488 (GRCm39) |
F269L |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,449,152 (GRCm39) |
C659* |
probably null |
Het |
| Rnf8 |
T |
C |
17: 29,840,613 (GRCm39) |
|
probably null |
Het |
| Rras |
T |
G |
7: 44,669,980 (GRCm39) |
I137M |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,850,732 (GRCm39) |
H372L |
probably damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,898 (GRCm39) |
|
probably null |
Het |
| Tas2r115 |
T |
C |
6: 132,714,922 (GRCm39) |
T10A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,545,828 (GRCm39) |
I460F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,327,993 (GRCm39) |
A293V |
possibly damaging |
Het |
| Zpld2 |
T |
C |
4: 133,929,829 (GRCm39) |
T159A |
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 |
|
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 |
|
| 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 |
Incidental Mutation