Incidental Mutation 'R1680:Syngap1'
| ID |
188454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syngap1
|
| Ensembl Gene |
ENSMUSG00000067629 |
| Gene Name |
synaptic Ras GTPase activating protein 1 homolog (rat) |
| Synonyms |
Syngap |
| MMRRC Submission |
039716-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26941253-26972434 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26952579 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 46
(S46P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081285]
[ENSMUST00000177932]
[ENSMUST00000194598]
[ENSMUST00000201702]
[ENSMUST00000228963]
[ENSMUST00000229490]
[ENSMUST00000231853]
|
| AlphaFold |
F6SEU4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081285
AA Change: S46P
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080038
Gene: ENSMUSG00000067629
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
253 |
3.23e-8 |
SMART |
|
C2
|
263 |
362 |
7.4e-10 |
SMART |
|
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
|
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
|
low complexity region
|
1308 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175377
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177932
AA Change: S105P
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137587
Gene: ENSMUSG00000067629
AA Change: S105P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
253 |
3.23e-8 |
SMART |
|
C2
|
263 |
362 |
7.4e-10 |
SMART |
|
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
|
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193200
AA Change: S89P
|
| SMART Domains |
Protein: ENSMUSP00000141245
Gene: ENSMUSG00000067629
AA Change: S89P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
12 |
238 |
1.5e-10 |
SMART |
|
C2
|
248 |
347 |
4.8e-12 |
SMART |
|
RasGAP
|
377 |
714 |
2.1e-120 |
SMART |
|
low complexity region
|
772 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1053 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1110 |
N/A |
INTRINSIC |
|
coiled coil region
|
1171 |
1244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194598
AA Change: S105P
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141686
Gene: ENSMUSG00000067629
AA Change: S105P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
253 |
3.23e-8 |
SMART |
|
C2
|
263 |
362 |
7.4e-10 |
SMART |
|
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
|
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
|
low complexity region
|
1308 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201349
AA Change: S104P
|
| SMART Domains |
Protein: ENSMUSP00000144666
Gene: ENSMUSG00000067629
AA Change: S104P
| Domain | Start | End | E-Value | Type |
|---|
|
RasGAP
|
9 |
346 |
2.2e-120 |
SMART |
|
low complexity region
|
404 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
742 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
761 |
876 |
3e-21 |
BLAST |
|
low complexity region
|
884 |
894 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201702
AA Change: S105P
|
| SMART Domains |
Protein: ENSMUSP00000144248
Gene: ENSMUSG00000067629
AA Change: S105P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
253 |
1.5e-10 |
SMART |
|
C2
|
263 |
362 |
4.9e-12 |
SMART |
|
RasGAP
|
392 |
729 |
2.2e-120 |
SMART |
|
low complexity region
|
773 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1111 |
N/A |
INTRINSIC |
|
coiled coil region
|
1171 |
1243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228963
AA Change: S46P
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229490
AA Change: S105P
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231853
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Homozygous null mutations result in early post-embryonic lethality, while heterozygous mutant mice display a variety of phenotypes that include learning and memory defects, hyperactivity, and audiogenic seizures. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous mutant mice exhibit postnatal lethality, and by P3-P4, exhibit small body size and brain, reduced movement and do not feed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
C |
G |
10: 100,603,528 (GRCm38) |
P187R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 9,009,963 (GRCm38) |
H2870Q |
probably benign |
Het |
| Arhgef33 |
C |
T |
17: 80,347,651 (GRCm38) |
S95F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,278,954 (GRCm38) |
D827V |
probably damaging |
Het |
| Bcat1 |
T |
G |
6: 145,039,628 (GRCm38) |
D96A |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,548,746 (GRCm38) |
I184L |
probably benign |
Het |
| Ccdc129 |
C |
T |
6: 55,968,766 (GRCm38) |
T824I |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,837,824 (GRCm38) |
L415M |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,643,726 (GRCm38) |
V617A |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,799,361 (GRCm38) |
A1050V |
unknown |
Het |
| Col5a3 |
C |
T |
9: 20,784,668 (GRCm38) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,741,170 (GRCm38) |
T1059I |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,805,639 (GRCm38) |
R503Q |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 162,010,976 (GRCm38) |
V272A |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,873,361 (GRCm38) |
Q187R |
probably damaging |
Het |
| Dpp9 |
A |
G |
17: 56,190,103 (GRCm38) |
Y710H |
probably benign |
Het |
| Eef1a2 |
A |
T |
2: 181,152,941 (GRCm38) |
M155K |
possibly damaging |
Het |
| Entpd8 |
G |
A |
2: 25,084,024 (GRCm38) |
C331Y |
probably damaging |
Het |
| Erc1 |
A |
C |
6: 119,575,761 (GRCm38) |
L1072R |
probably damaging |
Het |
| Fam160b2 |
T |
C |
14: 70,586,851 (GRCm38) |
Y482C |
probably damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,173,868 (GRCm38) |
S155P |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,722,493 (GRCm38) |
S617P |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,605,448 (GRCm38) |
R840G |
probably benign |
Het |
| Il1rl2 |
T |
C |
1: 40,351,793 (GRCm38) |
Y299H |
possibly damaging |
Het |
| Ints7 |
T |
G |
1: 191,621,162 (GRCm38) |
|
probably null |
Het |
| Ireb2 |
C |
T |
9: 54,881,518 (GRCm38) |
T92I |
probably damaging |
Het |
| Kcnj8 |
A |
T |
6: 142,570,189 (GRCm38) |
L64* |
probably null |
Het |
| Mapk8ip3 |
A |
G |
17: 24,901,011 (GRCm38) |
V983A |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,801,636 (GRCm38) |
D985G |
probably benign |
Het |
| Mical3 |
A |
T |
6: 120,959,643 (GRCm38) |
S1307R |
probably benign |
Het |
| Ncaph2 |
A |
G |
15: 89,364,622 (GRCm38) |
D222G |
probably benign |
Het |
| Nf1 |
C |
A |
11: 79,550,998 (GRCm38) |
S295* |
probably null |
Het |
| Nlrp12 |
T |
A |
7: 3,241,174 (GRCm38) |
D236V |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,906,802 (GRCm38) |
V74A |
probably benign |
Het |
| Oasl1 |
A |
G |
5: 114,935,944 (GRCm38) |
D304G |
probably damaging |
Het |
| Olfr1098 |
C |
T |
2: 86,923,161 (GRCm38) |
V124I |
probably benign |
Het |
| Olfr556 |
A |
G |
7: 102,670,733 (GRCm38) |
D271G |
possibly damaging |
Het |
| Olfr834 |
A |
G |
9: 18,988,516 (GRCm38) |
H176R |
possibly damaging |
Het |
| Olfr936 |
T |
C |
9: 39,047,000 (GRCm38) |
I140V |
probably benign |
Het |
| Patz1 |
A |
G |
11: 3,307,812 (GRCm38) |
K604E |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 66,035,250 (GRCm38) |
V793E |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,277,750 (GRCm38) |
|
probably null |
Het |
| Plxnc1 |
A |
C |
10: 94,841,551 (GRCm38) |
L938R |
probably benign |
Het |
| Pou4f2 |
G |
T |
8: 78,434,831 (GRCm38) |
A381D |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,899,223 (GRCm38) |
L685P |
possibly damaging |
Het |
| Pxn |
T |
A |
5: 115,552,147 (GRCm38) |
V383E |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,174,783 (GRCm38) |
L632P |
probably damaging |
Het |
| Rnf135 |
T |
A |
11: 80,196,881 (GRCm38) |
S219T |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Sdk2 |
T |
C |
11: 113,791,436 (GRCm38) |
D2039G |
possibly damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,042,644 (GRCm38) |
Y131H |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,418,080 (GRCm38) |
I492T |
probably damaging |
Het |
| Soga3 |
A |
T |
10: 29,196,839 (GRCm38) |
Q709L |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,320,616 (GRCm38) |
K993E |
probably damaging |
Het |
| Sptbn1 |
T |
G |
11: 30,159,371 (GRCm38) |
I75L |
possibly damaging |
Het |
| Tfcp2l1 |
T |
A |
1: 118,675,605 (GRCm38) |
F458I |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,087,840 (GRCm38) |
V102A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 57,121,961 (GRCm38) |
S34P |
unknown |
Het |
| Txlnb |
G |
T |
10: 17,843,233 (GRCm38) |
G604V |
probably benign |
Het |
| Ube2q1 |
A |
G |
3: 89,776,176 (GRCm38) |
T143A |
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,503,669 (GRCm38) |
R361* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,703,547 (GRCm38) |
D1098G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,835,381 (GRCm38) |
T116S |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,454,423 (GRCm38) |
R6K |
probably benign |
Het |
| Zan |
T |
A |
5: 137,403,050 (GRCm38) |
T4136S |
unknown |
Het |
| Zbtb14 |
C |
A |
17: 69,388,502 (GRCm38) |
F398L |
probably damaging |
Het |
| Zfp606 |
A |
T |
7: 12,493,971 (GRCm38) |
H615L |
probably damaging |
Het |
| Zp3r |
A |
T |
1: 130,582,880 (GRCm38) |
N433K |
probably benign |
Het |
|
| Other mutations in Syngap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0732:Syngap1
|
UTSW |
17 |
26,954,988 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1178:Syngap1
|
UTSW |
17 |
26,957,805 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1953:Syngap1
|
UTSW |
17 |
26,944,687 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2213:Syngap1
|
UTSW |
17 |
26,953,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2696:Syngap1
|
UTSW |
17 |
26,957,411 (GRCm38) |
nonsense |
probably null |
|
|
R2899:Syngap1
|
UTSW |
17 |
26,959,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3237:Syngap1
|
UTSW |
17 |
26,957,093 (GRCm38) |
nonsense |
probably null |
|
|
R3705:Syngap1
|
UTSW |
17 |
26,960,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3880:Syngap1
|
UTSW |
17 |
26,953,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4019:Syngap1
|
UTSW |
17 |
26,952,341 (GRCm38) |
unclassified |
probably benign |
|
|
R4661:Syngap1
|
UTSW |
17 |
26,966,906 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4798:Syngap1
|
UTSW |
17 |
26,961,449 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5524:Syngap1
|
UTSW |
17 |
26,957,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5580:Syngap1
|
UTSW |
17 |
26,962,331 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5610:Syngap1
|
UTSW |
17 |
26,959,780 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5835:Syngap1
|
UTSW |
17 |
26,958,218 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5974:Syngap1
|
UTSW |
17 |
26,963,038 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6235:Syngap1
|
UTSW |
17 |
26,958,130 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6247:Syngap1
|
UTSW |
17 |
26,962,957 (GRCm38) |
nonsense |
probably null |
|
|
R6461:Syngap1
|
UTSW |
17 |
26,964,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6503:Syngap1
|
UTSW |
17 |
26,944,684 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7134:Syngap1
|
UTSW |
17 |
26,960,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7248:Syngap1
|
UTSW |
17 |
26,957,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7298:Syngap1
|
UTSW |
17 |
26,962,987 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7749:Syngap1
|
UTSW |
17 |
26,959,964 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7812:Syngap1
|
UTSW |
17 |
26,941,504 (GRCm38) |
missense |
probably benign |
|
|
R7864:Syngap1
|
UTSW |
17 |
26,970,528 (GRCm38) |
missense |
|
|
|
R7951:Syngap1
|
UTSW |
17 |
26,966,968 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8024:Syngap1
|
UTSW |
17 |
26,941,452 (GRCm38) |
start codon destroyed |
probably benign |
0.01 |
|
R8132:Syngap1
|
UTSW |
17 |
26,958,180 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8386:Syngap1
|
UTSW |
17 |
26,960,491 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R9127:Syngap1
|
UTSW |
17 |
26,962,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9185:Syngap1
|
UTSW |
17 |
26,963,083 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9189:Syngap1
|
UTSW |
17 |
26,964,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9461:Syngap1
|
UTSW |
17 |
26,954,988 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9505:Syngap1
|
UTSW |
17 |
26,961,605 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9723:Syngap1
|
UTSW |
17 |
26,970,536 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
X0017:Syngap1
|
UTSW |
17 |
26,944,651 (GRCm38) |
missense |
probably benign |
0.11 |
|
Z1088:Syngap1
|
UTSW |
17 |
26,961,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTGACTGACTGCCTATCCAAG -3'
(R):5'- GAGCCCTGACACCAGTTTGTCTTC -3'
Sequencing Primer
(F):5'- CCTATCCAAGTCATGGGCTTAAGG -3'
(R):5'- CTGTATGATGTGAGCAGATACAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation