Incidental Mutation 'R9395:Nacc2'
| ID |
710771 |
| 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 |
068965-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25945547-26012823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25950128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 536
(V536A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028300]
[ENSMUST00000114159]
|
| AlphaFold |
Q9DCM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028300
AA Change: V536A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: V536A
| 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 damaging
Transcript: ENSMUST00000114159
AA Change: V536A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: V536A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
A |
T |
3: 137,927,477 (GRCm39) |
I8F |
probably damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,708 (GRCm39) |
D207G |
probably damaging |
Het |
| Arhgef28 |
TAA |
TA |
13: 98,103,692 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cgnl1 |
T |
C |
9: 71,539,954 (GRCm39) |
M1097V |
probably benign |
Het |
| Chrm2 |
G |
A |
6: 36,501,196 (GRCm39) |
G351D |
possibly damaging |
Het |
| Cntnap2 |
C |
A |
6: 45,978,244 (GRCm39) |
R300S |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,280 (GRCm39) |
L398P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,595,020 (GRCm39) |
N15I |
probably damaging |
Het |
| Csrp3 |
A |
T |
7: 48,489,231 (GRCm39) |
V17D |
probably damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,284,531 (GRCm39) |
N207S |
probably benign |
Het |
| Ecel1 |
A |
T |
1: 87,082,350 (GRCm39) |
I121N |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,477,822 (GRCm39) |
S407P |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,514,879 (GRCm39) |
L119P |
probably damaging |
Het |
| Gpr139 |
A |
T |
7: 118,743,811 (GRCm39) |
M258K |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,285,009 (GRCm39) |
Y454C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,353,952 (GRCm39) |
I431N |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,274,584 (GRCm39) |
W1235R |
possibly damaging |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Neu4 |
T |
A |
1: 93,950,218 (GRCm39) |
L59Q |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,871 (GRCm39) |
I4088F |
probably damaging |
Het |
| Or8b37 |
T |
C |
9: 37,959,136 (GRCm39) |
V206A |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,532,976 (GRCm39) |
R1589C |
probably damaging |
Het |
| Pla2g3 |
C |
T |
11: 3,440,952 (GRCm39) |
Q306* |
probably null |
Het |
| Pramel12 |
A |
G |
4: 143,145,605 (GRCm39) |
E358G |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,499,400 (GRCm39) |
H56L |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,735,219 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,155,664 (GRCm39) |
F115Y |
probably damaging |
Het |
| Spcs2 |
T |
C |
7: 99,488,924 (GRCm39) |
T221A |
probably benign |
Het |
| Stmn1 |
C |
T |
4: 134,200,146 (GRCm39) |
A73V |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,261,728 (GRCm39) |
K2250I |
probably damaging |
Het |
| Tcf7l2 |
C |
T |
19: 55,920,200 (GRCm39) |
Q578* |
probably null |
Het |
| Tgtp2 |
A |
T |
11: 48,950,083 (GRCm39) |
M163K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,542,006 (GRCm39) |
N33660S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,902,683 (GRCm39) |
F655L |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,026 (GRCm39) |
T86I |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,783 (GRCm39) |
W378R |
probably damaging |
Het |
| Zic1 |
T |
A |
9: 91,247,070 (GRCm39) |
M1L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTTAGTACTGGGTTCCTG -3'
(R):5'- ATGTACCGTAGCGTCATGGG -3'
Sequencing Primer
(F):5'- TCCTGTGAGCTGGCCTTGC -3'
(R):5'- AGCGTCATGGGTGCGTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation