Incidental Mutation 'R6282:Insyn2b'
ID |
508004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Insyn2b
|
Ensembl Gene |
ENSMUSG00000069911 |
Gene Name |
inhibitory synaptic factor family member 2B |
Synonyms |
Fam196b, Gm6041 |
MMRRC Submission |
044452-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R6282 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
34264822-34372642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34352819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 287
(D287G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093192]
[ENSMUST00000093193]
[ENSMUST00000101364]
[ENSMUST00000101365]
[ENSMUST00000165963]
|
AlphaFold |
Q6GQV1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093192
AA Change: D287G
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000090883 Gene: ENSMUSG00000069911 AA Change: D287G
Domain | Start | End | E-Value | Type |
Pfam:FAM196
|
1 |
535 |
3.6e-196 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093193
|
SMART Domains |
Protein: ENSMUSP00000090884 Gene: ENSMUSG00000020143
Domain | Start | End | E-Value | Type |
SH3
|
11 |
68 |
1.22e-11 |
SMART |
Pfam:DOCK_N
|
71 |
414 |
2e-113 |
PFAM |
Pfam:DOCK-C2
|
419 |
616 |
1e-60 |
PFAM |
Pfam:DHR-2
|
1114 |
1614 |
6.3e-96 |
PFAM |
low complexity region
|
1691 |
1706 |
N/A |
INTRINSIC |
low complexity region
|
1793 |
1800 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101364
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101365
|
SMART Domains |
Protein: ENSMUSP00000098916 Gene: ENSMUSG00000020143
Domain | Start | End | E-Value | Type |
SH3
|
11 |
68 |
1.22e-11 |
SMART |
Pfam:DOCK_N
|
71 |
414 |
1.4e-113 |
PFAM |
Pfam:DOCK-C2
|
419 |
616 |
5.5e-61 |
PFAM |
low complexity region
|
1163 |
1171 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165963
AA Change: D287G
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000129183 Gene: ENSMUSG00000069911 AA Change: D287G
Domain | Start | End | E-Value | Type |
Pfam:FAM196
|
3 |
535 |
1.3e-168 |
PFAM |
|
Meta Mutation Damage Score |
0.0829 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,690,781 (GRCm39) |
L185Q |
possibly damaging |
Het |
Abca6 |
A |
T |
11: 110,099,650 (GRCm39) |
C966S |
probably damaging |
Het |
Atp13a4 |
A |
T |
16: 29,252,822 (GRCm39) |
I708N |
probably benign |
Het |
Axin1 |
C |
G |
17: 26,362,011 (GRCm39) |
D118E |
probably damaging |
Het |
Bace2 |
A |
T |
16: 97,216,297 (GRCm39) |
I297F |
probably damaging |
Het |
Ccdc30 |
T |
A |
4: 119,181,214 (GRCm39) |
D649V |
probably damaging |
Het |
Cd180 |
G |
A |
13: 102,830,265 (GRCm39) |
A20T |
possibly damaging |
Het |
Cdk18 |
T |
C |
1: 132,047,758 (GRCm39) |
D112G |
probably damaging |
Het |
Cuedc1 |
A |
G |
11: 88,074,228 (GRCm39) |
N254S |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,542,760 (GRCm39) |
H2470R |
probably damaging |
Het |
Drap1 |
G |
A |
19: 5,474,464 (GRCm39) |
|
probably null |
Het |
Fbxo5 |
T |
A |
10: 5,751,216 (GRCm39) |
K257M |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm12790 |
A |
G |
4: 101,824,713 (GRCm39) |
V185A |
possibly damaging |
Het |
Gm7361 |
A |
G |
5: 26,465,411 (GRCm39) |
N136S |
probably benign |
Het |
Il10ra |
C |
A |
9: 45,171,703 (GRCm39) |
C255F |
probably damaging |
Het |
Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,901,428 (GRCm39) |
N62I |
probably damaging |
Het |
Ldb2 |
A |
G |
5: 44,690,007 (GRCm39) |
L204P |
probably damaging |
Het |
Map2k4 |
T |
C |
11: 65,597,842 (GRCm39) |
T90A |
possibly damaging |
Het |
Mettl3 |
A |
T |
14: 52,535,428 (GRCm39) |
D287E |
probably benign |
Het |
Mier2 |
A |
G |
10: 79,380,576 (GRCm39) |
F278S |
probably damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,195,937 (GRCm39) |
M609T |
probably benign |
Het |
Myo1d |
A |
T |
11: 80,448,338 (GRCm39) |
V929D |
probably damaging |
Het |
Naprt |
A |
T |
15: 75,763,828 (GRCm39) |
M364K |
probably benign |
Het |
Nod2 |
T |
A |
8: 89,397,088 (GRCm39) |
C833S |
probably benign |
Het |
Nrip3 |
C |
T |
7: 109,362,686 (GRCm39) |
|
probably null |
Het |
Ntsr2 |
A |
G |
12: 16,708,426 (GRCm39) |
Y320C |
probably damaging |
Het |
Or14j8 |
G |
A |
17: 38,263,315 (GRCm39) |
S200F |
possibly damaging |
Het |
Or4p7 |
C |
A |
2: 88,221,877 (GRCm39) |
C95* |
probably null |
Het |
Or51h1 |
G |
A |
7: 102,308,854 (GRCm39) |
M275I |
probably benign |
Het |
Osbpl3 |
A |
T |
6: 50,325,063 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
C |
T |
18: 37,434,699 (GRCm39) |
R222C |
probably damaging |
Het |
Pik3cd |
G |
T |
4: 149,744,200 (GRCm39) |
R184S |
probably benign |
Het |
Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
Rad50 |
A |
T |
11: 53,560,597 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
A |
T |
12: 11,507,560 (GRCm39) |
H494L |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,722,863 (GRCm39) |
M762T |
probably damaging |
Het |
Sars1 |
G |
T |
3: 108,335,590 (GRCm39) |
S338* |
probably null |
Het |
Usp35 |
T |
C |
7: 96,975,155 (GRCm39) |
E6G |
probably damaging |
Het |
Vash2 |
T |
C |
1: 190,692,422 (GRCm39) |
Y251C |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdr20 |
T |
A |
12: 110,763,443 (GRCm39) |
|
probably benign |
Het |
Wfdc1 |
G |
A |
8: 120,406,146 (GRCm39) |
C87Y |
probably damaging |
Het |
Zfp985 |
T |
A |
4: 147,667,805 (GRCm39) |
H224Q |
probably benign |
Het |
|
Other mutations in Insyn2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00897:Insyn2b
|
APN |
11 |
34,353,011 (GRCm39) |
missense |
probably benign |
|
IGL01867:Insyn2b
|
APN |
11 |
34,353,065 (GRCm39) |
missense |
probably benign |
0.39 |
PIT4677001:Insyn2b
|
UTSW |
11 |
34,353,122 (GRCm39) |
missense |
probably benign |
|
R0317:Insyn2b
|
UTSW |
11 |
34,352,826 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1165:Insyn2b
|
UTSW |
11 |
34,352,740 (GRCm39) |
missense |
probably benign |
|
R1710:Insyn2b
|
UTSW |
11 |
34,354,263 (GRCm39) |
splice site |
probably null |
|
R2083:Insyn2b
|
UTSW |
11 |
34,352,141 (GRCm39) |
missense |
probably benign |
0.01 |
R2096:Insyn2b
|
UTSW |
11 |
34,352,936 (GRCm39) |
missense |
probably benign |
0.03 |
R3820:Insyn2b
|
UTSW |
11 |
34,353,007 (GRCm39) |
missense |
probably benign |
0.01 |
R3821:Insyn2b
|
UTSW |
11 |
34,353,007 (GRCm39) |
missense |
probably benign |
0.01 |
R3822:Insyn2b
|
UTSW |
11 |
34,353,007 (GRCm39) |
missense |
probably benign |
0.01 |
R3969:Insyn2b
|
UTSW |
11 |
34,369,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R3970:Insyn2b
|
UTSW |
11 |
34,369,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R3980:Insyn2b
|
UTSW |
11 |
34,352,678 (GRCm39) |
missense |
probably benign |
0.00 |
R4092:Insyn2b
|
UTSW |
11 |
34,351,935 (GRCm39) |
start gained |
probably benign |
|
R4231:Insyn2b
|
UTSW |
11 |
34,353,143 (GRCm39) |
missense |
probably benign |
0.01 |
R4678:Insyn2b
|
UTSW |
11 |
34,353,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Insyn2b
|
UTSW |
11 |
34,353,154 (GRCm39) |
missense |
probably benign |
0.31 |
R4938:Insyn2b
|
UTSW |
11 |
34,352,231 (GRCm39) |
missense |
probably damaging |
0.98 |
R5269:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Insyn2b
|
UTSW |
11 |
34,353,058 (GRCm39) |
missense |
probably benign |
0.12 |
R5358:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5359:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Insyn2b
|
UTSW |
11 |
34,352,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5403:Insyn2b
|
UTSW |
11 |
34,353,058 (GRCm39) |
missense |
probably benign |
0.12 |
R5705:Insyn2b
|
UTSW |
11 |
34,354,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7030:Insyn2b
|
UTSW |
11 |
34,352,030 (GRCm39) |
missense |
probably damaging |
0.96 |
R7069:Insyn2b
|
UTSW |
11 |
34,352,677 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7178:Insyn2b
|
UTSW |
11 |
34,352,359 (GRCm39) |
missense |
probably damaging |
0.96 |
R7180:Insyn2b
|
UTSW |
11 |
34,369,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R7718:Insyn2b
|
UTSW |
11 |
34,352,539 (GRCm39) |
missense |
probably benign |
0.00 |
R7789:Insyn2b
|
UTSW |
11 |
34,352,537 (GRCm39) |
missense |
probably benign |
|
R7832:Insyn2b
|
UTSW |
11 |
34,353,034 (GRCm39) |
missense |
probably benign |
|
R8377:Insyn2b
|
UTSW |
11 |
34,351,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R8930:Insyn2b
|
UTSW |
11 |
34,352,707 (GRCm39) |
missense |
probably benign |
0.00 |
R8932:Insyn2b
|
UTSW |
11 |
34,352,707 (GRCm39) |
missense |
probably benign |
0.00 |
R9407:Insyn2b
|
UTSW |
11 |
34,352,072 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Insyn2b
|
UTSW |
11 |
34,353,188 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Insyn2b
|
UTSW |
11 |
34,352,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCAGCTGAAGAGAGCAACTC -3'
(R):5'- GTCACATGTTCCCAGCACAC -3'
Sequencing Primer
(F):5'- GAGAGCAACTCTATACCTGCTTTG -3'
(R):5'- AGACTTGGATGCACTGCTAC -3'
|
Posted On |
2018-03-15 |