Incidental Mutation 'R6298:Srgap3'
ID |
508894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap3
|
Ensembl Gene |
ENSMUSG00000030257 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
Synonyms |
Arhgap14, D130026O08Rik |
MMRRC Submission |
044408-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R6298 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 112793571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 135
(V135D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000060215
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088373
AA Change: V135D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000085712 Gene: ENSMUSG00000030257 AA Change: V135D
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 damaging
Transcript: ENSMUST00000113169
AA Change: V135D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108794 Gene: ENSMUSG00000030257 AA Change: V135D
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 |
noncoding transcript
Transcript: ENSMUST00000143475
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
98% (79/81) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
A |
T |
2: 103,539,833 (GRCm39) |
M733L |
probably benign |
Het |
Acss3 |
G |
A |
10: 106,920,717 (GRCm39) |
P131L |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,539,886 (GRCm39) |
I5678F |
probably benign |
Het |
Aff1 |
C |
T |
5: 103,902,586 (GRCm39) |
L6F |
possibly damaging |
Het |
Ank3 |
G |
T |
10: 69,686,006 (GRCm39) |
R273L |
probably damaging |
Het |
Anks1b |
G |
A |
10: 90,516,699 (GRCm39) |
G898D |
probably damaging |
Het |
Anxa11 |
C |
T |
14: 25,873,158 (GRCm39) |
P131S |
unknown |
Het |
Ap4e1 |
T |
A |
2: 126,889,035 (GRCm39) |
M500K |
probably benign |
Het |
Bag3 |
T |
C |
7: 128,141,922 (GRCm39) |
S138P |
probably damaging |
Het |
Capn9 |
T |
C |
8: 125,344,193 (GRCm39) |
V670A |
probably benign |
Het |
Ccne2 |
T |
A |
4: 11,199,306 (GRCm39) |
W236R |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,262,451 (GRCm39) |
Y702* |
probably null |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cit |
A |
T |
5: 116,086,124 (GRCm39) |
E896V |
probably damaging |
Het |
Cntln |
T |
A |
4: 85,014,998 (GRCm39) |
N1096K |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,411,747 (GRCm39) |
C544R |
probably damaging |
Het |
Csf1 |
A |
T |
3: 107,655,675 (GRCm39) |
L452Q |
possibly damaging |
Het |
Cts8 |
T |
A |
13: 61,397,037 (GRCm39) |
K294N |
possibly damaging |
Het |
Dcakd |
T |
G |
11: 102,890,618 (GRCm39) |
E56D |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,998,987 (GRCm39) |
I929V |
probably benign |
Het |
Dnah2 |
G |
T |
11: 69,382,467 (GRCm39) |
H1214Q |
probably benign |
Het |
Dock9 |
T |
C |
14: 121,872,006 (GRCm39) |
D536G |
probably damaging |
Het |
Drc3 |
A |
G |
11: 60,284,596 (GRCm39) |
N467S |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,084,118 (GRCm39) |
|
probably null |
Het |
Ecpas |
T |
G |
4: 58,877,157 (GRCm39) |
T93P |
probably damaging |
Het |
Evpl |
A |
T |
11: 116,121,748 (GRCm39) |
L378Q |
probably damaging |
Het |
Fer1l4 |
A |
T |
2: 155,866,660 (GRCm39) |
H1520Q |
probably damaging |
Het |
Fhod1 |
A |
T |
8: 106,063,780 (GRCm39) |
|
probably benign |
Het |
Gabra1 |
T |
A |
11: 42,073,205 (GRCm39) |
|
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm14137 |
A |
G |
2: 119,005,572 (GRCm39) |
T44A |
possibly damaging |
Het |
H2bl1 |
T |
A |
13: 99,120,974 (GRCm39) |
R17S |
probably benign |
Het |
Herc2 |
T |
C |
7: 55,841,013 (GRCm39) |
M3444T |
probably benign |
Het |
Igsf5 |
T |
C |
16: 96,197,648 (GRCm39) |
S208P |
possibly damaging |
Het |
Ino80b |
A |
G |
6: 83,102,066 (GRCm39) |
L12P |
possibly damaging |
Het |
Insrr |
A |
G |
3: 87,720,272 (GRCm39) |
D970G |
probably damaging |
Het |
Iqcf4 |
G |
A |
9: 106,445,874 (GRCm39) |
A91V |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,564,078 (GRCm39) |
T911A |
probably benign |
Het |
Katnip |
T |
C |
7: 125,469,869 (GRCm39) |
V1446A |
probably benign |
Het |
Klhl30 |
A |
T |
1: 91,285,086 (GRCm39) |
D314V |
probably benign |
Het |
Lpcat1 |
T |
C |
13: 73,659,074 (GRCm39) |
V330A |
possibly damaging |
Het |
Myef2l |
T |
C |
3: 10,154,239 (GRCm39) |
I336T |
probably damaging |
Het |
Nhlrc3 |
A |
T |
3: 53,359,944 (GRCm39) |
D306E |
possibly damaging |
Het |
Notum |
T |
A |
11: 120,548,766 (GRCm39) |
I187F |
probably damaging |
Het |
Nphp3 |
T |
C |
9: 103,892,640 (GRCm39) |
L288P |
probably damaging |
Het |
Ntrk2 |
G |
T |
13: 59,019,570 (GRCm39) |
E394* |
probably null |
Het |
Or6k2 |
T |
A |
1: 173,979,748 (GRCm39) |
V222D |
probably benign |
Het |
Pbld2 |
A |
G |
10: 62,874,931 (GRCm39) |
K63E |
probably benign |
Het |
Phc2 |
T |
C |
4: 128,641,982 (GRCm39) |
M768T |
possibly damaging |
Het |
Pik3c2g |
G |
A |
6: 139,603,561 (GRCm39) |
C249Y |
probably damaging |
Het |
Plod1 |
G |
A |
4: 148,000,772 (GRCm39) |
|
probably benign |
Het |
Plscr2 |
A |
T |
9: 92,172,772 (GRCm39) |
T9S |
probably benign |
Het |
Pnrc1 |
T |
A |
4: 33,246,315 (GRCm39) |
M215L |
probably benign |
Het |
Prcp |
G |
T |
7: 92,577,841 (GRCm39) |
C370F |
probably damaging |
Het |
Pter |
A |
G |
2: 12,983,205 (GRCm39) |
N70S |
probably damaging |
Het |
Ptprt |
G |
T |
2: 161,395,779 (GRCm39) |
H1131Q |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 157,239,432 (GRCm39) |
D8G |
possibly damaging |
Het |
Rcn2 |
A |
C |
9: 55,960,209 (GRCm39) |
K159Q |
probably benign |
Het |
Rex2 |
T |
A |
4: 147,141,972 (GRCm39) |
C153* |
probably null |
Het |
Rps6ka2 |
T |
C |
17: 7,437,766 (GRCm39) |
F8S |
possibly damaging |
Het |
Samd9l |
A |
G |
6: 3,375,383 (GRCm39) |
L626S |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,667,428 (GRCm39) |
|
probably null |
Het |
Srsf7 |
T |
C |
17: 80,514,682 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,228,255 (GRCm39) |
T1647A |
probably benign |
Het |
Thap12 |
G |
T |
7: 98,352,612 (GRCm39) |
A6S |
probably damaging |
Het |
Tmem33 |
T |
A |
5: 67,425,894 (GRCm39) |
L146* |
probably null |
Het |
Trip13 |
C |
A |
13: 74,084,378 (GRCm39) |
E36* |
probably null |
Het |
Vkorc1l1 |
T |
A |
5: 129,971,079 (GRCm39) |
C23S |
probably damaging |
Het |
Vmn1r20 |
G |
A |
6: 57,409,112 (GRCm39) |
R146H |
probably benign |
Het |
Vmn1r222 |
T |
A |
13: 23,416,965 (GRCm39) |
I83F |
probably benign |
Het |
Vmn2r107 |
A |
T |
17: 20,576,044 (GRCm39) |
I125F |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,605,736 (GRCm39) |
D216G |
probably damaging |
Het |
Vwa3a |
C |
T |
7: 120,394,874 (GRCm39) |
T898I |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,116,812 (GRCm39) |
D76G |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,510,579 (GRCm39) |
D148G |
possibly damaging |
Het |
Xylt1 |
T |
C |
7: 117,255,960 (GRCm39) |
I844T |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,353,185 (GRCm39) |
V1535D |
probably damaging |
Het |
Zfp385b |
A |
T |
2: 77,244,323 (GRCm39) |
L315Q |
possibly damaging |
Het |
Zfp458 |
T |
A |
13: 67,404,870 (GRCm39) |
H523L |
probably damaging |
Het |
Zfp712 |
T |
C |
13: 67,189,393 (GRCm39) |
H378R |
probably damaging |
Het |
Zic1 |
T |
C |
9: 91,246,556 (GRCm39) |
Y172C |
probably damaging |
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 |
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 |
R8067:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GGCTGAGTACACACAGTCTTTC -3'
(R):5'- CTGACATGAAGCCAACCTGAG -3'
Sequencing Primer
(F):5'- GCTGAGTACACACAGTCTTTCAAAGG -3'
(R):5'- AAGCCAACCTGAGCTGTCTTG -3'
|
Posted On |
2018-04-02 |