Incidental Mutation 'R8827:Srgap3'
| ID |
673536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
068658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R8827 (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 G
at 112716302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 633
(Y633H)
|
| 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 damaging
Transcript: ENSMUST00000088373
AA Change: Y633H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: Y633H
| 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: Y609H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: Y609H
| 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: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,839,324 (GRCm39) |
I810V |
probably benign |
Het |
| Adcy7 |
T |
C |
8: 89,036,327 (GRCm39) |
F128S |
possibly damaging |
Het |
| Ankhd1 |
C |
T |
18: 36,757,633 (GRCm39) |
Q188* |
probably null |
Het |
| Asxl2 |
A |
T |
12: 3,550,501 (GRCm39) |
I748L |
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,853,307 (GRCm39) |
N70S |
|
Het |
| Bmp1 |
A |
G |
14: 70,728,082 (GRCm39) |
Y616H |
probably damaging |
Het |
| Brap |
T |
A |
5: 121,810,261 (GRCm39) |
D248E |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,645,765 (GRCm39) |
S294L |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,794,123 (GRCm39) |
Y338C |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,774,110 (GRCm39) |
S1993T |
unknown |
Het |
| Chl1 |
G |
T |
6: 103,670,111 (GRCm39) |
M500I |
probably benign |
Het |
| Cntn3 |
G |
C |
6: 102,246,094 (GRCm39) |
L352V |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,890,535 (GRCm39) |
D635G |
probably benign |
Het |
| Col22a1 |
C |
A |
15: 71,774,665 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
A |
T |
5: 145,387,008 (GRCm39) |
D327E |
probably benign |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,226 (GRCm39) |
S130C |
unknown |
Het |
| Dhodh |
T |
C |
8: 110,334,928 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
C |
T |
17: 84,955,079 (GRCm39) |
S246L |
possibly damaging |
Het |
| Eif3c |
A |
T |
7: 126,157,894 (GRCm39) |
F316Y |
probably damaging |
Het |
| Esp34 |
A |
T |
17: 38,865,091 (GRCm39) |
|
probably benign |
Het |
| Fam98a |
T |
C |
17: 75,851,824 (GRCm39) |
M86V |
possibly damaging |
Het |
| Gm29394 |
G |
T |
15: 57,932,717 (GRCm39) |
Q7K |
probably damaging |
Het |
| Gtf2i |
C |
T |
5: 134,269,096 (GRCm39) |
|
probably null |
Het |
| H2bc27 |
C |
T |
11: 58,839,917 (GRCm39) |
P51L |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,438,720 (GRCm39) |
Y888H |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,417,548 (GRCm39) |
W894R |
probably damaging |
Het |
| Klhl25 |
C |
A |
7: 75,516,391 (GRCm39) |
D432E |
possibly damaging |
Het |
| Klhl7 |
G |
A |
5: 24,363,635 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
A |
T |
1: 153,097,424 (GRCm39) |
L1540Q |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Map4k5 |
C |
T |
12: 69,903,635 (GRCm39) |
D57N |
possibly damaging |
Het |
| Mpped2 |
T |
C |
2: 106,691,928 (GRCm39) |
M211T |
possibly damaging |
Het |
| Nat9 |
T |
C |
11: 115,075,339 (GRCm39) |
T101A |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,184,742 (GRCm39) |
F447L |
probably benign |
Het |
| Nup50l |
G |
T |
6: 96,142,293 (GRCm39) |
N250K |
probably benign |
Het |
| Or4p22 |
T |
C |
2: 88,317,165 (GRCm39) |
S30P |
probably damaging |
Het |
| Or5h24 |
G |
A |
16: 58,919,061 (GRCm39) |
T98I |
unknown |
Het |
| Or5w16 |
C |
T |
2: 87,576,777 (GRCm39) |
P79L |
possibly damaging |
Het |
| Orc3 |
A |
T |
4: 34,605,569 (GRCm39) |
F104Y |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,102,802 (GRCm39) |
V665E |
probably damaging |
Het |
| Pdpk1 |
T |
C |
17: 24,307,191 (GRCm39) |
D380G |
probably benign |
Het |
| Phkg1 |
T |
A |
5: 129,893,894 (GRCm39) |
E280D |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,699,732 (GRCm39) |
Y2068F |
possibly damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,191,462 (GRCm39) |
|
probably benign |
Het |
| Plekhh3 |
G |
A |
11: 101,058,380 (GRCm39) |
P222L |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,476 (GRCm39) |
V10E |
probably benign |
Het |
| Prdm6 |
G |
T |
18: 53,701,267 (GRCm39) |
Q513H |
probably damaging |
Het |
| Pros1 |
T |
C |
16: 62,746,827 (GRCm39) |
V593A |
probably benign |
Het |
| Radil |
T |
C |
5: 142,493,859 (GRCm39) |
H250R |
probably damaging |
Het |
| Rasa2 |
C |
T |
9: 96,434,403 (GRCm39) |
R628Q |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,572,934 (GRCm39) |
E4884G |
possibly damaging |
Het |
| Shh |
A |
G |
5: 28,663,125 (GRCm39) |
S348P |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,270,237 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
A |
C |
2: 158,453,274 (GRCm39) |
D38A |
probably damaging |
Het |
| Slc35f3 |
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,780 (GRCm39) |
|
probably benign |
Het |
| Slc45a4 |
A |
T |
15: 73,458,316 (GRCm39) |
I411N |
probably benign |
Het |
| Slc49a4 |
A |
T |
16: 35,554,320 (GRCm39) |
C274S |
probably benign |
Het |
| Slc7a10 |
C |
A |
7: 34,897,313 (GRCm39) |
S248Y |
probably damaging |
Het |
| Smc3 |
T |
A |
19: 53,611,085 (GRCm39) |
D258E |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,129,617 (GRCm39) |
Q1131L |
probably benign |
Het |
| Sphk1 |
A |
G |
11: 116,426,590 (GRCm39) |
D182G |
probably damaging |
Het |
| Sspo |
T |
G |
6: 48,434,606 (GRCm39) |
F1033V |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,095,357 (GRCm39) |
V488A |
probably benign |
Het |
| Tead1 |
A |
C |
7: 112,475,449 (GRCm39) |
K299N |
probably damaging |
Het |
| Tmem150c |
A |
C |
5: 100,240,654 (GRCm39) |
S69R |
probably damaging |
Het |
| Tnfaip3 |
T |
A |
10: 18,880,795 (GRCm39) |
K424M |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,188 (GRCm39) |
V335A |
possibly damaging |
Het |
| Ttc39c |
G |
A |
18: 12,828,436 (GRCm39) |
V199I |
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,070,736 (GRCm39) |
F400Y |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,487,868 (GRCm39) |
S844T |
probably benign |
Het |
| Wwtr1 |
A |
G |
3: 57,482,616 (GRCm39) |
V77A |
probably damaging |
Het |
| Yju2b |
T |
A |
8: 84,986,987 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Zc3h4 |
C |
A |
7: 16,163,123 (GRCm39) |
P500T |
unknown |
Het |
| Zfand2a |
C |
T |
5: 139,460,607 (GRCm39) |
|
probably null |
Het |
| Zfr2 |
A |
G |
10: 81,078,619 (GRCm39) |
T284A |
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 |
|
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 |
|
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'- TAGAGCCTTCCTGATTGATCCC -3'
Sequencing Primer
(F):5'- AAGCCTCCCCCAGAGTTTC -3'
(R):5'- CCTGATTGATCCCTATAGCTGATGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation