Incidental Mutation 'R9185:Syngap1'
| ID |
697344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syngap1
|
| Ensembl Gene |
ENSMUSG00000067629 |
| Gene Name |
synaptic Ras GTPase activating protein 1 homolog (rat) |
| Synonyms |
Syngap |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
27160227-27191408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 27182057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 1190
(D1190A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081285]
[ENSMUST00000177932]
[ENSMUST00000194598]
[ENSMUST00000201702]
[ENSMUST00000202939]
[ENSMUST00000228963]
[ENSMUST00000229490]
[ENSMUST00000231853]
|
| AlphaFold |
F6SEU4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081285
AA Change: D1131A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080038
Gene: ENSMUSG00000067629
AA Change: D1131A
| 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 |
possibly damaging
Transcript: ENSMUST00000177932
AA Change: D1190A
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137587
Gene: ENSMUSG00000067629
AA Change: D1190A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000141245
Gene: ENSMUSG00000067629
AA Change: D1174A
| 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 |
possibly damaging
Transcript: ENSMUST00000194598
AA Change: D1190A
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141686
Gene: ENSMUSG00000067629
AA Change: D1190A
| 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 |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000144666
Gene: ENSMUSG00000067629
AA Change: D1189A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000144248
Gene: ENSMUSG00000067629
AA Change: D1176A
| 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 |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202939
|
| SMART Domains |
Protein: ENSMUSP00000144403
Gene: ENSMUSG00000067629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RasGAP
|
1 |
61 |
5.7e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228963
AA Change: D1131A
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229490
AA Change: D1190A
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231853
AA Change: D1017A
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,177,421 (GRCm39) |
H312R |
possibly damaging |
Het |
| Aloxe3 |
T |
C |
11: 69,025,114 (GRCm39) |
F409S |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,215,004 (GRCm39) |
N1630I |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,064,137 (GRCm39) |
S800P |
probably damaging |
Het |
| Ccne1 |
A |
T |
7: 37,799,255 (GRCm39) |
S220T |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,443,668 (GRCm39) |
Y810C |
probably benign |
Het |
| Cercam |
T |
C |
2: 29,766,033 (GRCm39) |
V304A |
possibly damaging |
Het |
| Cfap100 |
T |
C |
6: 90,390,416 (GRCm39) |
T75A |
|
Het |
| Clcn4 |
T |
A |
7: 7,287,197 (GRCm39) |
I744F |
possibly damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,246,887 (GRCm39) |
N1670S |
unknown |
Het |
| Cps1 |
G |
A |
1: 67,248,831 (GRCm39) |
R1186Q |
probably benign |
Het |
| Cr1l |
C |
A |
1: 194,797,053 (GRCm39) |
C328F |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,880,091 (GRCm39) |
T366S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,615,712 (GRCm39) |
S408T |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,601,937 (GRCm39) |
S1992P |
probably benign |
Het |
| Glyatl3 |
A |
T |
17: 41,225,234 (GRCm39) |
V3E |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,908 (GRCm39) |
M343T |
possibly damaging |
Het |
| Gys2 |
T |
C |
6: 142,405,112 (GRCm39) |
D225G |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,628 (GRCm39) |
S42G |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,883 (GRCm39) |
C2673R |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,337,975 (GRCm39) |
V2685I |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,950,165 (GRCm39) |
E908G |
probably damaging |
Het |
| Kcne1 |
A |
T |
16: 92,145,796 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Kcnk5 |
G |
T |
14: 20,195,135 (GRCm39) |
Y118* |
probably null |
Het |
| Kctd11 |
T |
C |
11: 69,770,676 (GRCm39) |
T121A |
possibly damaging |
Het |
| Mier3 |
T |
C |
13: 111,851,260 (GRCm39) |
V414A |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,295,261 (GRCm39) |
S734P |
possibly damaging |
Het |
| Mrps26 |
T |
C |
2: 130,405,769 (GRCm39) |
V24A |
probably benign |
Het |
| Mug2 |
C |
G |
6: 122,054,442 (GRCm39) |
Q1074E |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,771,255 (GRCm39) |
S1P |
unknown |
Het |
| Ninj1 |
A |
T |
13: 49,344,726 (GRCm39) |
T81S |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,391,880 (GRCm39) |
H729L |
probably damaging |
Het |
| Nr1i3 |
G |
A |
1: 171,043,955 (GRCm39) |
V49I |
possibly damaging |
Het |
| Olfm5 |
G |
A |
7: 103,810,095 (GRCm39) |
Q89* |
probably null |
Het |
| Or10ag52 |
A |
T |
2: 87,044,174 (GRCm39) |
T313S |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,754 (GRCm39) |
I92F |
probably damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,501 (GRCm39) |
V163A |
probably benign |
Het |
| Or4e1 |
A |
G |
14: 52,700,984 (GRCm39) |
S161P |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or5aq6 |
A |
C |
2: 86,923,200 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,765 (GRCm39) |
T97S |
probably benign |
Het |
| Or8g53 |
T |
A |
9: 39,683,404 (GRCm39) |
T231S |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,666,132 (GRCm39) |
T371S |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,453,019 (GRCm39) |
S3981R |
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,934,526 (GRCm39) |
F1802L |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,381,898 (GRCm39) |
N266S |
probably benign |
Het |
| Prcp |
A |
G |
7: 92,582,257 (GRCm39) |
H449R |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,532,212 (GRCm39) |
W1468R |
unknown |
Het |
| Rcvrn |
A |
G |
11: 67,586,480 (GRCm39) |
T80A |
possibly damaging |
Het |
| Rhou |
T |
C |
8: 124,387,793 (GRCm39) |
L175P |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,444,115 (GRCm39) |
S2054P |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,321,917 (GRCm39) |
S414P |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,227,906 (GRCm39) |
S429C |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,123,958 (GRCm39) |
|
probably benign |
Het |
| Smyd3 |
A |
G |
1: 178,877,854 (GRCm39) |
|
probably null |
Het |
| Strip1 |
T |
A |
3: 107,535,530 (GRCm39) |
E64D |
probably damaging |
Het |
| Sumf2 |
T |
G |
5: 129,875,909 (GRCm39) |
C25G |
possibly damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,118,099 (GRCm39) |
T77I |
probably benign |
Het |
| Tbce |
A |
T |
13: 14,173,027 (GRCm39) |
V468D |
probably damaging |
Het |
| Tmem191 |
G |
A |
16: 17,094,302 (GRCm39) |
R42H |
probably damaging |
Het |
| Tmem200c |
T |
C |
17: 69,147,633 (GRCm39) |
V72A |
probably damaging |
Het |
| Ttc28 |
T |
G |
5: 111,371,342 (GRCm39) |
F628C |
probably benign |
Het |
| Wsb2 |
G |
A |
5: 117,501,736 (GRCm39) |
V34M |
possibly damaging |
Het |
| Zfand6 |
A |
G |
7: 84,283,558 (GRCm39) |
S15P |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,115,873 (GRCm39) |
N158D |
possibly damaging |
Het |
| Zic1 |
G |
T |
9: 91,246,542 (GRCm39) |
Q177K |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,963,633 (GRCm39) |
M1V |
probably null |
Het |
|
| Other mutations in Syngap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0732:Syngap1
|
UTSW |
17 |
27,173,962 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1178:Syngap1
|
UTSW |
17 |
27,176,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1680:Syngap1
|
UTSW |
17 |
27,171,553 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1953:Syngap1
|
UTSW |
17 |
27,163,661 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2213:Syngap1
|
UTSW |
17 |
27,172,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Syngap1
|
UTSW |
17 |
27,176,385 (GRCm39) |
nonsense |
probably null |
|
|
R2899:Syngap1
|
UTSW |
17 |
27,178,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3237:Syngap1
|
UTSW |
17 |
27,176,067 (GRCm39) |
nonsense |
probably null |
|
|
R3705:Syngap1
|
UTSW |
17 |
27,178,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3880:Syngap1
|
UTSW |
17 |
27,172,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4019:Syngap1
|
UTSW |
17 |
27,171,315 (GRCm39) |
unclassified |
probably benign |
|
|
R4661:Syngap1
|
UTSW |
17 |
27,185,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Syngap1
|
UTSW |
17 |
27,180,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5524:Syngap1
|
UTSW |
17 |
27,176,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Syngap1
|
UTSW |
17 |
27,181,305 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5610:Syngap1
|
UTSW |
17 |
27,178,754 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5835:Syngap1
|
UTSW |
17 |
27,177,192 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5974:Syngap1
|
UTSW |
17 |
27,182,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6235:Syngap1
|
UTSW |
17 |
27,177,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6247:Syngap1
|
UTSW |
17 |
27,181,931 (GRCm39) |
nonsense |
probably null |
|
|
R6461:Syngap1
|
UTSW |
17 |
27,183,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6503:Syngap1
|
UTSW |
17 |
27,163,658 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7134:Syngap1
|
UTSW |
17 |
27,178,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Syngap1
|
UTSW |
17 |
27,176,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Syngap1
|
UTSW |
17 |
27,181,961 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7749:Syngap1
|
UTSW |
17 |
27,178,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7812:Syngap1
|
UTSW |
17 |
27,160,478 (GRCm39) |
missense |
probably benign |
|
|
R7864:Syngap1
|
UTSW |
17 |
27,189,502 (GRCm39) |
missense |
|
|
|
R7951:Syngap1
|
UTSW |
17 |
27,185,942 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8024:Syngap1
|
UTSW |
17 |
27,160,426 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R8132:Syngap1
|
UTSW |
17 |
27,177,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8386:Syngap1
|
UTSW |
17 |
27,179,465 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9127:Syngap1
|
UTSW |
17 |
27,181,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Syngap1
|
UTSW |
17 |
27,183,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Syngap1
|
UTSW |
17 |
27,173,962 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9505:Syngap1
|
UTSW |
17 |
27,180,579 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9723:Syngap1
|
UTSW |
17 |
27,189,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0017:Syngap1
|
UTSW |
17 |
27,163,625 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1088:Syngap1
|
UTSW |
17 |
27,180,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCTCAGCATTCCCAGAC -3'
(R):5'- TTCCTCAGAGCTGAAACGAAACAG -3'
Sequencing Primer
(F):5'- TCAGCATTCCCAGACTCCATC -3'
(R):5'- GAAACAGCTCTCTCCATCTCTAGTAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation