Incidental Mutation 'R8067:Srgap3'
ID |
620059 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap3
|
Ensembl Gene |
ENSMUSG00000030257 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
Synonyms |
Arhgap14, D130026O08Rik |
MMRRC Submission |
067502-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R8067 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 112716325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 625
(R625H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
[ENSMUST00000131835]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088373
AA Change: R625H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000085712 Gene: ENSMUSG00000030257 AA Change: R625H
Domain | Start | End | E-Value | Type |
FCH
|
22 |
120 |
3.81e-16 |
SMART |
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
coiled coil region
|
353 |
392 |
N/A |
INTRINSIC |
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
RhoGAP
|
517 |
691 |
7.43e-66 |
SMART |
SH3
|
747 |
802 |
9.69e-15 |
SMART |
coiled coil region
|
955 |
985 |
N/A |
INTRINSIC |
low complexity region
|
1025 |
1038 |
N/A |
INTRINSIC |
low complexity region
|
1053 |
1064 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113169
AA Change: R601H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000108794 Gene: ENSMUSG00000030257 AA Change: R601H
Domain | Start | End | E-Value | Type |
FCH
|
22 |
120 |
3.81e-16 |
SMART |
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
coiled coil region
|
353 |
392 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
434 |
474 |
4e-11 |
BLAST |
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
RhoGAP
|
493 |
667 |
7.43e-66 |
SMART |
SH3
|
723 |
778 |
9.69e-15 |
SMART |
coiled coil region
|
931 |
961 |
N/A |
INTRINSIC |
low complexity region
|
1001 |
1014 |
N/A |
INTRINSIC |
low complexity region
|
1029 |
1040 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131835
|
SMART Domains |
Protein: ENSMUSP00000130063 Gene: ENSMUSG00000030257
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
1 |
33 |
2e-14 |
BLAST |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (45/45) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in spine density in the brain CA1 and cortical layers IV/V. Mice homozygous for a different knock-out allele exhibit a neurodevelopment disorder with schizophrenia-related intermediate phenotypes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
A |
T |
8: 13,608,643 (GRCm39) |
D145E |
possibly damaging |
Het |
Adcy7 |
T |
C |
8: 89,037,697 (GRCm39) |
L255P |
probably damaging |
Het |
Cbx7 |
A |
T |
15: 79,818,099 (GRCm39) |
V1D |
unknown |
Het |
Cd209c |
A |
C |
8: 3,995,700 (GRCm39) |
M34R |
probably benign |
Het |
Chodl |
A |
T |
16: 78,743,601 (GRCm39) |
L229F |
probably damaging |
Het |
Depdc5 |
C |
A |
5: 33,053,252 (GRCm39) |
N197K |
possibly damaging |
Het |
Dnai1 |
T |
A |
4: 41,614,258 (GRCm39) |
D311E |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,400,392 (GRCm39) |
Y1017C |
probably benign |
Het |
Dop1b |
T |
A |
16: 93,562,336 (GRCm39) |
L927* |
probably null |
Het |
Dpp10 |
A |
G |
1: 123,280,389 (GRCm39) |
S646P |
probably benign |
Het |
Ebf1 |
G |
A |
11: 44,511,374 (GRCm39) |
V90M |
probably benign |
Het |
Efhd1 |
C |
T |
1: 87,192,313 (GRCm39) |
P48S |
probably benign |
Het |
Fam83b |
T |
C |
9: 76,398,380 (GRCm39) |
T908A |
probably benign |
Het |
Fbxl16 |
G |
A |
17: 26,036,957 (GRCm39) |
V313I |
probably damaging |
Het |
Git2 |
C |
T |
5: 114,904,579 (GRCm39) |
M113I |
probably damaging |
Het |
Gpr87 |
T |
A |
3: 59,087,308 (GRCm39) |
I66F |
probably damaging |
Het |
H60c |
A |
C |
10: 3,209,338 (GRCm39) |
L217V |
unknown |
Het |
Iba57 |
T |
C |
11: 59,054,086 (GRCm39) |
|
probably benign |
Het |
Igkv11-125 |
C |
A |
6: 67,890,814 (GRCm39) |
T44N |
probably benign |
Het |
Itih2 |
T |
A |
2: 10,128,294 (GRCm39) |
I136F |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk |
A |
T |
16: 34,792,389 (GRCm39) |
E1570V |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,964,639 (GRCm39) |
L896H |
probably damaging |
Het |
Ndc1 |
T |
A |
4: 107,247,595 (GRCm39) |
S468T |
probably benign |
Het |
Ndst3 |
T |
C |
3: 123,395,094 (GRCm39) |
N512S |
probably damaging |
Het |
Or51b6 |
A |
G |
7: 103,555,610 (GRCm39) |
|
probably benign |
Het |
Or5w15 |
T |
A |
2: 87,568,147 (GRCm39) |
I174F |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,312,697 (GRCm39) |
I54V |
possibly damaging |
Het |
Polr3c |
T |
C |
3: 96,622,968 (GRCm39) |
E350G |
probably null |
Het |
Prpf8 |
T |
C |
11: 75,390,976 (GRCm39) |
W1342R |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
Rin2 |
T |
G |
2: 145,702,977 (GRCm39) |
S558A |
probably damaging |
Het |
Ripk4 |
A |
T |
16: 97,564,737 (GRCm39) |
V58D |
probably damaging |
Het |
Smyd3 |
A |
G |
1: 179,238,028 (GRCm39) |
M113T |
possibly damaging |
Het |
Spock1 |
A |
T |
13: 57,843,984 (GRCm39) |
|
probably null |
Het |
Tasor2 |
C |
T |
13: 3,619,602 (GRCm39) |
V2210I |
probably benign |
Het |
Tmed2 |
T |
C |
5: 124,684,986 (GRCm39) |
I134T |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,201,464 (GRCm39) |
S353R |
probably damaging |
Het |
Xdh |
T |
A |
17: 74,207,652 (GRCm39) |
R902W |
probably benign |
Het |
Zbtb5 |
A |
T |
4: 44,994,972 (GRCm39) |
S137R |
probably benign |
Het |
Zfp286 |
A |
T |
11: 62,644,345 (GRCm39) |
I192K |
unknown |
Het |
Zfp942 |
T |
C |
17: 22,149,391 (GRCm39) |
Y38C |
probably damaging |
Het |
Zfpm1 |
T |
C |
8: 123,062,323 (GRCm39) |
S461P |
probably benign |
Het |
|
Other mutations in Srgap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01324:Srgap3
|
APN |
6 |
112,716,358 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01325:Srgap3
|
APN |
6 |
112,752,647 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01608:Srgap3
|
APN |
6 |
112,923,439 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01626:Srgap3
|
APN |
6 |
112,750,609 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01787:Srgap3
|
APN |
6 |
112,699,983 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02698:Srgap3
|
APN |
6 |
112,723,889 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02805:Srgap3
|
APN |
6 |
112,704,224 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02813:Srgap3
|
APN |
6 |
112,708,441 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02876:Srgap3
|
APN |
6 |
112,748,414 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03264:Srgap3
|
APN |
6 |
112,793,636 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03342:Srgap3
|
APN |
6 |
112,752,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R0007:Srgap3
|
UTSW |
6 |
112,806,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R0371:Srgap3
|
UTSW |
6 |
112,748,432 (GRCm39) |
missense |
probably damaging |
0.99 |
R0607:Srgap3
|
UTSW |
6 |
112,700,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R1628:Srgap3
|
UTSW |
6 |
112,716,331 (GRCm39) |
missense |
probably damaging |
0.99 |
R1669:Srgap3
|
UTSW |
6 |
112,699,865 (GRCm39) |
missense |
probably benign |
0.36 |
R1858:Srgap3
|
UTSW |
6 |
112,748,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R1876:Srgap3
|
UTSW |
6 |
112,752,527 (GRCm39) |
missense |
probably damaging |
0.98 |
R1896:Srgap3
|
UTSW |
6 |
112,715,958 (GRCm39) |
missense |
probably benign |
0.11 |
R2159:Srgap3
|
UTSW |
6 |
112,748,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R2221:Srgap3
|
UTSW |
6 |
112,923,454 (GRCm39) |
missense |
probably damaging |
0.98 |
R2862:Srgap3
|
UTSW |
6 |
112,699,933 (GRCm39) |
missense |
probably damaging |
0.99 |
R3160:Srgap3
|
UTSW |
6 |
112,706,619 (GRCm39) |
missense |
probably benign |
0.00 |
R3162:Srgap3
|
UTSW |
6 |
112,706,619 (GRCm39) |
missense |
probably benign |
0.00 |
R4092:Srgap3
|
UTSW |
6 |
112,700,045 (GRCm39) |
missense |
probably benign |
0.00 |
R4561:Srgap3
|
UTSW |
6 |
112,758,015 (GRCm39) |
missense |
probably damaging |
0.98 |
R4781:Srgap3
|
UTSW |
6 |
112,734,386 (GRCm39) |
intron |
probably benign |
|
R4825:Srgap3
|
UTSW |
6 |
112,704,271 (GRCm39) |
missense |
probably benign |
|
R4887:Srgap3
|
UTSW |
6 |
112,723,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Srgap3
|
UTSW |
6 |
112,743,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R5556:Srgap3
|
UTSW |
6 |
112,716,039 (GRCm39) |
missense |
probably damaging |
0.99 |
R5672:Srgap3
|
UTSW |
6 |
112,752,522 (GRCm39) |
missense |
probably benign |
|
R5879:Srgap3
|
UTSW |
6 |
112,699,807 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5944:Srgap3
|
UTSW |
6 |
112,772,775 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6277:Srgap3
|
UTSW |
6 |
112,716,344 (GRCm39) |
missense |
probably benign |
0.02 |
R6298:Srgap3
|
UTSW |
6 |
112,793,571 (GRCm39) |
missense |
probably damaging |
0.98 |
R6407:Srgap3
|
UTSW |
6 |
112,699,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R6408:Srgap3
|
UTSW |
6 |
112,699,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R6797:Srgap3
|
UTSW |
6 |
112,806,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:Srgap3
|
UTSW |
6 |
112,793,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R6965:Srgap3
|
UTSW |
6 |
112,700,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7055:Srgap3
|
UTSW |
6 |
112,723,924 (GRCm39) |
missense |
probably damaging |
0.97 |
R7067:Srgap3
|
UTSW |
6 |
112,734,266 (GRCm39) |
intron |
probably benign |
|
R7361:Srgap3
|
UTSW |
6 |
112,723,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R7479:Srgap3
|
UTSW |
6 |
112,712,794 (GRCm39) |
critical splice donor site |
probably null |
|
R7606:Srgap3
|
UTSW |
6 |
112,716,337 (GRCm39) |
missense |
probably benign |
0.00 |
R7731:Srgap3
|
UTSW |
6 |
112,743,858 (GRCm39) |
missense |
probably benign |
0.36 |
R7787:Srgap3
|
UTSW |
6 |
112,752,520 (GRCm39) |
missense |
probably benign |
0.02 |
R7934:Srgap3
|
UTSW |
6 |
112,708,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
R8040:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
R8066:Srgap3
|
UTSW |
6 |
112,748,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R8090:Srgap3
|
UTSW |
6 |
112,757,996 (GRCm39) |
nonsense |
probably null |
|
R8151:Srgap3
|
UTSW |
6 |
112,793,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R8248:Srgap3
|
UTSW |
6 |
112,700,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R8365:Srgap3
|
UTSW |
6 |
112,793,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R8369:Srgap3
|
UTSW |
6 |
112,699,779 (GRCm39) |
missense |
probably benign |
|
R8444:Srgap3
|
UTSW |
6 |
112,752,509 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8509:Srgap3
|
UTSW |
6 |
112,708,297 (GRCm39) |
nonsense |
probably null |
|
R8772:Srgap3
|
UTSW |
6 |
112,743,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Srgap3
|
UTSW |
6 |
112,716,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R8881:Srgap3
|
UTSW |
6 |
112,700,098 (GRCm39) |
missense |
probably benign |
|
R9002:Srgap3
|
UTSW |
6 |
112,757,854 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9041:Srgap3
|
UTSW |
6 |
112,754,054 (GRCm39) |
missense |
probably damaging |
0.99 |
R9198:Srgap3
|
UTSW |
6 |
112,743,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R9404:Srgap3
|
UTSW |
6 |
112,706,616 (GRCm39) |
missense |
probably benign |
0.04 |
R9616:Srgap3
|
UTSW |
6 |
112,748,524 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Srgap3
|
UTSW |
6 |
112,772,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCACCCACAAGGCAAAG -3'
(R):5'- GTAGAGCCTTCCTGATTGATCC -3'
Sequencing Primer
(F):5'- AAGCCTCCCCCAGAGTTTC -3'
(R):5'- CCTGATTGATCCCTATAGCTGATGG -3'
|
Posted On |
2020-01-23 |