Incidental Mutation 'R5067:Insyn2a'
| ID |
388370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insyn2a
|
| Ensembl Gene |
ENSMUSG00000073805 |
| Gene Name |
inhibitory synaptic factor 2A |
| Synonyms |
Fam196a, B830028B13Rik |
| MMRRC Submission |
042657-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5067 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
134483655-134540159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134520284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 82
(V82E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084488]
[ENSMUST00000171394]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084488
|
| SMART Domains |
Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
12 |
69 |
7.57e-17 |
SMART |
|
Pfam:DOCK_N
|
72 |
416 |
1.7e-113 |
PFAM |
|
Pfam:DOCK-C2
|
421 |
618 |
1.2e-61 |
PFAM |
|
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
|
Pfam:DHR-2
|
1111 |
1610 |
3.3e-102 |
PFAM |
|
low complexity region
|
1639 |
1664 |
N/A |
INTRINSIC |
|
low complexity region
|
1683 |
1701 |
N/A |
INTRINSIC |
|
low complexity region
|
1756 |
1773 |
N/A |
INTRINSIC |
|
low complexity region
|
1823 |
1857 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171394
AA Change: V82E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129222
Gene: ENSMUSG00000073805
AA Change: V82E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM196
|
1 |
470 |
4.7e-205 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210617
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
C |
12: 112,748,936 (GRCm39) |
N304D |
probably benign |
Het |
| Akr7a5 |
T |
C |
4: 139,038,333 (GRCm39) |
S90P |
probably damaging |
Het |
| Aplnr |
T |
A |
2: 84,967,128 (GRCm39) |
V51E |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,884,848 (GRCm39) |
H776Q |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,989,152 (GRCm39) |
Y2200F |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,925,043 (GRCm39) |
D268E |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,616,782 (GRCm39) |
N113D |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,628 (GRCm39) |
N175D |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,943,956 (GRCm39) |
D134G |
probably damaging |
Het |
| Clybl |
A |
T |
14: 122,616,701 (GRCm39) |
I239L |
possibly damaging |
Het |
| Defb11 |
A |
T |
8: 22,396,352 (GRCm39) |
F15Y |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,051,647 (GRCm39) |
S695P |
probably benign |
Het |
| Fbxl5 |
T |
C |
5: 43,916,114 (GRCm39) |
K432E |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,215,098 (GRCm39) |
E2226G |
probably benign |
Het |
| Gm10337 |
T |
A |
15: 102,412,306 (GRCm39) |
|
probably null |
Het |
| Gm5828 |
A |
G |
1: 16,839,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
A |
T |
13: 50,053,870 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
| Ints14 |
C |
A |
9: 64,871,694 (GRCm39) |
L11M |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,492,107 (GRCm39) |
P153L |
probably benign |
Het |
| Lrrk2 |
A |
C |
15: 91,649,993 (GRCm39) |
N1710T |
probably benign |
Het |
| Marchf10 |
T |
A |
11: 105,280,933 (GRCm39) |
T451S |
possibly damaging |
Het |
| Mcf2l |
T |
G |
8: 12,965,959 (GRCm39) |
|
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Neurod2 |
T |
A |
11: 98,218,063 (GRCm39) |
H367L |
possibly damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,875 (GRCm39) |
Q681L |
probably damaging |
Het |
| Nkx3-2 |
T |
C |
5: 41,919,220 (GRCm39) |
N256S |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 110,042,661 (GRCm39) |
T55M |
possibly damaging |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,222 (GRCm39) |
V382A |
possibly damaging |
Het |
| Trim72 |
T |
C |
7: 127,609,139 (GRCm39) |
S314P |
possibly damaging |
Het |
| Ttc41 |
T |
C |
10: 86,580,408 (GRCm39) |
S785P |
probably damaging |
Het |
| Ube2z |
C |
T |
11: 95,953,835 (GRCm39) |
V128I |
probably benign |
Het |
| Vps26c |
T |
A |
16: 94,327,263 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
T |
C |
17: 71,933,849 (GRCm39) |
Y149H |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,153,682 (GRCm39) |
V248E |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,958,694 (GRCm39) |
N1055I |
probably damaging |
Het |
| Zdhhc23 |
T |
C |
16: 43,794,134 (GRCm39) |
Y180C |
probably benign |
Het |
|
| Other mutations in Insyn2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01504:Insyn2a
|
APN |
7 |
134,519,669 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02380:Insyn2a
|
APN |
7 |
134,500,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0557:Insyn2a
|
UTSW |
7 |
134,520,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Insyn2a
|
UTSW |
7 |
134,500,960 (GRCm39) |
splice site |
probably benign |
|
|
R1691:Insyn2a
|
UTSW |
7 |
134,520,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1726:Insyn2a
|
UTSW |
7 |
134,500,867 (GRCm39) |
splice site |
probably benign |
|
|
R2045:Insyn2a
|
UTSW |
7 |
134,520,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Insyn2a
|
UTSW |
7 |
134,519,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3078:Insyn2a
|
UTSW |
7 |
134,519,750 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3851:Insyn2a
|
UTSW |
7 |
134,486,255 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4619:Insyn2a
|
UTSW |
7 |
134,520,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Insyn2a
|
UTSW |
7 |
134,500,877 (GRCm39) |
nonsense |
probably null |
|
|
R5024:Insyn2a
|
UTSW |
7 |
134,520,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Insyn2a
|
UTSW |
7 |
134,486,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Insyn2a
|
UTSW |
7 |
134,520,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Insyn2a
|
UTSW |
7 |
134,520,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Insyn2a
|
UTSW |
7 |
134,520,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Insyn2a
|
UTSW |
7 |
134,519,738 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7988:Insyn2a
|
UTSW |
7 |
134,519,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Insyn2a
|
UTSW |
7 |
134,500,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8932:Insyn2a
|
UTSW |
7 |
134,500,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9230:Insyn2a
|
UTSW |
7 |
134,520,439 (GRCm39) |
nonsense |
probably null |
|
|
R9586:Insyn2a
|
UTSW |
7 |
134,520,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Insyn2a
|
UTSW |
7 |
134,520,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTTGAAGGCATCTGCAG -3'
(R):5'- CTCTGGCAGATGCATACTCACG -3'
Sequencing Primer
(F):5'- AGGCATCTGCAGCCGGC -3'
(R):5'- TCACGACACCAGAGCGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation