Incidental Mutation 'R3969:Insyn2b'
| ID |
310887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insyn2b
|
| Ensembl Gene |
ENSMUSG00000069911 |
| Gene Name |
inhibitory synaptic factor family member 2B |
| Synonyms |
Fam196b, Gm6041 |
| MMRRC Submission |
040937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R3969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
34264822-34372642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34369739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 481
(Q481L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093192]
[ENSMUST00000093193]
[ENSMUST00000101364]
[ENSMUST00000101365]
[ENSMUST00000165963]
|
| AlphaFold |
Q6GQV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093192
AA Change: Q481L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: Q481L
| 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 |
probably damaging
Transcript: ENSMUST00000165963
AA Change: Q481L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: Q481L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM196
|
3 |
535 |
1.3e-168 |
PFAM |
|
| Meta Mutation Damage Score |
0.0775 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,835,846 (GRCm39) |
K60E |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,590,608 (GRCm39) |
C273F |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,811 (GRCm39) |
I175T |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,269,531 (GRCm39) |
M1K |
probably null |
Het |
| Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,269,766 (GRCm39) |
S396R |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,300,133 (GRCm39) |
Y194C |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,781 (GRCm39) |
Q497H |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Lins1 |
C |
T |
7: 66,357,946 (GRCm39) |
T27I |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,897,576 (GRCm39) |
V439G |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
T |
13: 49,813,492 (GRCm39) |
K162* |
probably null |
Het |
| Or7g21 |
A |
G |
9: 19,032,956 (GRCm39) |
E232G |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pole3 |
G |
T |
4: 62,443,198 (GRCm39) |
N12K |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,263 (GRCm39) |
S71G |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,738 (GRCm39) |
V496A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,821,818 (GRCm39) |
S24P |
probably benign |
Het |
| Tspoap1 |
A |
T |
11: 87,653,272 (GRCm39) |
N113Y |
probably damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,626 (GRCm39) |
H307L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,801 (GRCm39) |
W498R |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,309,358 (GRCm39) |
D808G |
unknown |
Het |
| Ybx2 |
G |
A |
11: 69,831,242 (GRCm39) |
R84Q |
probably damaging |
Het |
| Zfp462 |
C |
T |
4: 55,012,402 (GRCm39) |
S308F |
probably damaging |
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 |
|
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 |
|
R6282:Insyn2b
|
UTSW |
11 |
34,352,819 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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'- AATGCCTGACATGATCTGTGC -3'
(R):5'- TGCAGGAAGCCCCAATCTTC -3'
Sequencing Primer
(F):5'- TGGGAAATGGCTCAACTCTC -3'
(R):5'- GGAAGCCCCAATCTTCTCATATC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation