Incidental Mutation 'R2221:Srgap3'
ID |
241484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap3
|
Ensembl Gene |
ENSMUSG00000030257 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
Synonyms |
Arhgap14, D130026O08Rik |
MMRRC Submission |
040223-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R2221 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112923454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
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: S2P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000085712 Gene: ENSMUSG00000030257 AA Change: S2P
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: S2P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108794 Gene: ENSMUSG00000030257 AA Change: S2P
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: ENSMUST00000204406
|
Meta Mutation Damage Score |
0.0879 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (58/58) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
C |
4: 86,306,762 (GRCm39) |
D1392A |
probably benign |
Het |
Afdn |
T |
C |
17: 14,103,999 (GRCm39) |
|
probably benign |
Het |
Aph1b |
A |
T |
9: 66,691,921 (GRCm39) |
M121K |
probably damaging |
Het |
Aspg |
G |
A |
12: 112,080,868 (GRCm39) |
A120T |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,418,503 (GRCm39) |
T725A |
probably damaging |
Het |
Cd1d2 |
A |
T |
3: 86,895,847 (GRCm39) |
I292F |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,849,186 (GRCm39) |
|
probably null |
Het |
Cdk13 |
A |
G |
13: 17,894,120 (GRCm39) |
V495A |
probably damaging |
Het |
Cfd |
A |
T |
10: 79,728,039 (GRCm39) |
|
probably null |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cradd |
A |
C |
10: 95,011,735 (GRCm39) |
V135G |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,979,617 (GRCm39) |
C460R |
probably damaging |
Het |
Ctu2 |
A |
G |
8: 123,207,649 (GRCm39) |
E375G |
probably damaging |
Het |
Dym |
T |
G |
18: 75,363,236 (GRCm39) |
I580S |
probably damaging |
Het |
Eif3e |
A |
G |
15: 43,114,943 (GRCm39) |
L411P |
possibly damaging |
Het |
Emsy |
T |
C |
7: 98,239,982 (GRCm39) |
E1091G |
possibly damaging |
Het |
Enkur |
A |
G |
2: 21,194,130 (GRCm39) |
|
probably benign |
Het |
Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
Frem2 |
G |
A |
3: 53,424,278 (GRCm39) |
A3053V |
probably benign |
Het |
Gbgt1 |
T |
C |
2: 28,388,435 (GRCm39) |
L40P |
probably damaging |
Het |
Gm5174 |
T |
A |
10: 86,492,372 (GRCm39) |
|
noncoding transcript |
Het |
Gys2 |
G |
T |
6: 142,402,148 (GRCm39) |
D230E |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,818,766 (GRCm39) |
|
probably null |
Het |
Hps3 |
A |
T |
3: 20,056,527 (GRCm39) |
S815R |
probably benign |
Het |
Igf1r |
C |
A |
7: 67,851,710 (GRCm39) |
S983R |
probably damaging |
Het |
Itsn1 |
T |
A |
16: 91,650,656 (GRCm39) |
|
probably benign |
Het |
Kcnc2 |
A |
G |
10: 112,292,431 (GRCm39) |
N91D |
probably damaging |
Het |
Kif28 |
C |
A |
1: 179,560,676 (GRCm39) |
A210S |
possibly damaging |
Het |
Klri2 |
T |
A |
6: 129,717,272 (GRCm39) |
Q37L |
probably damaging |
Het |
Lrrc38 |
T |
A |
4: 143,096,419 (GRCm39) |
C243* |
probably null |
Het |
Map3k5 |
T |
C |
10: 19,943,666 (GRCm39) |
V590A |
possibly damaging |
Het |
Mdn1 |
C |
A |
4: 32,763,306 (GRCm39) |
F5135L |
probably benign |
Het |
Megf11 |
G |
A |
9: 64,567,713 (GRCm39) |
G401S |
possibly damaging |
Het |
Mst1r |
T |
C |
9: 107,785,547 (GRCm39) |
F402L |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 77,848,600 (GRCm39) |
I759V |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,226,936 (GRCm39) |
|
probably benign |
Het |
Or4a71 |
C |
T |
2: 89,358,281 (GRCm39) |
V158I |
probably benign |
Het |
Or8b12i |
T |
C |
9: 20,082,388 (GRCm39) |
S160G |
possibly damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,469 (GRCm39) |
N607S |
possibly damaging |
Het |
Prl2a1 |
T |
A |
13: 27,990,369 (GRCm39) |
|
probably null |
Het |
Serpina9 |
T |
A |
12: 103,964,523 (GRCm39) |
I305F |
probably damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc19a1 |
C |
T |
10: 76,878,320 (GRCm39) |
T285I |
probably benign |
Het |
Snap91 |
T |
C |
9: 86,674,580 (GRCm39) |
T544A |
possibly damaging |
Het |
Tcof1 |
A |
G |
18: 60,970,973 (GRCm39) |
V210A |
possibly damaging |
Het |
Tex261 |
A |
G |
6: 83,748,497 (GRCm39) |
I136T |
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,973,480 (GRCm39) |
F279L |
probably null |
Het |
Ttc39b |
T |
C |
4: 83,150,999 (GRCm39) |
N532S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,572,438 (GRCm39) |
T26152A |
probably damaging |
Het |
Ube2w |
A |
G |
1: 16,668,183 (GRCm39) |
S97P |
possibly damaging |
Het |
Vmn1r25 |
A |
C |
6: 57,956,223 (GRCm39) |
L22R |
probably damaging |
Het |
Vmn1r64 |
T |
C |
7: 5,887,448 (GRCm39) |
I32V |
probably benign |
Het |
Vmn2r112 |
T |
G |
17: 22,820,214 (GRCm39) |
M29R |
possibly damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,273,301 (GRCm39) |
M705K |
probably benign |
Het |
Vps13b |
G |
A |
15: 35,884,743 (GRCm39) |
V3139I |
probably benign |
Het |
Zfp628 |
T |
C |
7: 4,923,830 (GRCm39) |
V684A |
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 |
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 |
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'- TGTAATTCACGCTCCCAGCC -3'
(R):5'- AGAAGGATTTCAACCCCGGG -3'
Sequencing Primer
(F):5'- TATCTGCAGTGGGAGCCAGTC -3'
(R):5'- ATTTCAACCCCGGGGCTCTG -3'
|
Posted On |
2014-10-15 |