Incidental Mutation 'R7055:Srgap3'
| ID |
547850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
045152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R7055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112723924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 512
(Q512L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
[ENSMUST00000131835]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088373
AA Change: Q536L
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: Q536L
| 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: Q512L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: Q512L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,062,083 (GRCm39) |
S178P |
probably damaging |
Het |
| 2610008E11Rik |
C |
T |
10: 78,903,681 (GRCm39) |
E212K |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,832,197 (GRCm39) |
L736* |
probably null |
Het |
| Acmsd |
A |
T |
1: 127,681,570 (GRCm39) |
M178L |
probably benign |
Het |
| Adpgk |
T |
A |
9: 59,220,476 (GRCm39) |
M266K |
possibly damaging |
Het |
| Aldh1b1 |
G |
A |
4: 45,802,909 (GRCm39) |
R149H |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,338,927 (GRCm39) |
T307A |
probably benign |
Het |
| C1galt1 |
T |
C |
6: 7,866,585 (GRCm39) |
Y144H |
probably damaging |
Het |
| Cabin1 |
G |
C |
10: 75,579,117 (GRCm39) |
Q440E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,049,561 (GRCm39) |
S231G |
probably damaging |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,558,342 (GRCm39) |
I490T |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,702,149 (GRCm39) |
V314E |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,496,757 (GRCm39) |
E413G |
unknown |
Het |
| Cyp3a25 |
A |
C |
5: 145,929,801 (GRCm39) |
F189L |
probably benign |
Het |
| Dido1 |
T |
A |
2: 180,303,002 (GRCm39) |
H1634L |
probably benign |
Het |
| Dnaja2 |
A |
C |
8: 86,275,303 (GRCm39) |
V156G |
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,290,291 (GRCm39) |
|
probably null |
Het |
| Eomes |
A |
T |
9: 118,309,567 (GRCm39) |
N240I |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,229 (GRCm39) |
F199L |
probably benign |
Het |
| Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
| Fndc4 |
T |
C |
5: 31,451,522 (GRCm39) |
E153G |
probably benign |
Het |
| Fv1 |
TTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTC |
4: 147,954,775 (GRCm39) |
|
probably null |
Het |
| Fzr1 |
T |
C |
10: 81,206,057 (GRCm39) |
Y210C |
probably damaging |
Het |
| Gjc2 |
T |
A |
11: 59,067,856 (GRCm39) |
M209L |
unknown |
Het |
| Gpr33 |
A |
G |
12: 52,071,036 (GRCm39) |
M1T |
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,553,523 (GRCm39) |
I28N |
possibly damaging |
Het |
| Igf2r |
A |
C |
17: 12,923,210 (GRCm39) |
Y1200D |
probably damaging |
Het |
| Ivd |
C |
T |
2: 118,703,730 (GRCm39) |
T212I |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,957,409 (GRCm39) |
V101A |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,404,701 (GRCm39) |
V83D |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,006 (GRCm39) |
I249F |
probably benign |
Het |
| Krtap21-1 |
G |
A |
16: 89,200,591 (GRCm39) |
S17L |
unknown |
Het |
| Macf1 |
A |
T |
4: 123,302,989 (GRCm39) |
H504Q |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,455,983 (GRCm39) |
T1499A |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,770,982 (GRCm39) |
T892A |
probably damaging |
Het |
| Mcl1 |
G |
A |
3: 95,567,110 (GRCm39) |
V178I |
probably benign |
Het |
| Mrs2 |
T |
A |
13: 25,188,937 (GRCm39) |
M126L |
probably benign |
Het |
| Msantd1 |
C |
A |
5: 35,075,005 (GRCm39) |
N9K |
probably benign |
Het |
| Myh9 |
C |
T |
15: 77,659,398 (GRCm39) |
R116H |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,248,662 (GRCm39) |
D308E |
probably benign |
Het |
| Nme2 |
T |
A |
11: 93,846,416 (GRCm39) |
I11F |
probably damaging |
Het |
| Nmnat3 |
A |
G |
9: 98,292,286 (GRCm39) |
D111G |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 87,924,045 (GRCm39) |
L78F |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,641,827 (GRCm39) |
W501R |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,443,998 (GRCm39) |
I384T |
possibly damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,623,864 (GRCm39) |
D398G |
possibly damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,465,771 (GRCm39) |
N102D |
probably benign |
Het |
| Pdzrn3 |
C |
A |
6: 101,128,735 (GRCm39) |
E644* |
probably null |
Het |
| Pi4ka |
T |
A |
16: 17,134,879 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,668,040 (GRCm39) |
F216L |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,924,457 (GRCm39) |
*522W |
probably null |
Het |
| Prkcz |
G |
T |
4: 155,374,091 (GRCm39) |
D108E |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,748,465 (GRCm39) |
V646A |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,017,309 (GRCm39) |
I483T |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,044,485 (GRCm39) |
I527T |
possibly damaging |
Het |
| Rad50 |
T |
C |
11: 53,578,929 (GRCm39) |
K543R |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,103,458 (GRCm39) |
I553T |
probably benign |
Het |
| Sbpl |
A |
T |
17: 24,172,276 (GRCm39) |
N214K |
unknown |
Het |
| Scgb2b11 |
C |
T |
7: 31,909,907 (GRCm39) |
E60K |
possibly damaging |
Het |
| Sgk3 |
G |
A |
1: 9,956,284 (GRCm39) |
E331K |
probably damaging |
Het |
| Snx6 |
A |
T |
12: 54,830,864 (GRCm39) |
L32Q |
probably damaging |
Het |
| Srsf12 |
A |
G |
4: 33,226,157 (GRCm39) |
D135G |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,026,858 (GRCm39) |
T274A |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,064,275 (GRCm39) |
V3236D |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,120,642 (GRCm39) |
F797Y |
probably benign |
Het |
| Tmem116 |
T |
C |
5: 121,605,987 (GRCm39) |
L113P |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,951,457 (GRCm39) |
V161A |
probably damaging |
Het |
| Tnpo1 |
G |
T |
13: 98,991,987 (GRCm39) |
Q622K |
possibly damaging |
Het |
| Top1mt |
A |
G |
15: 75,550,523 (GRCm39) |
V28A |
probably benign |
Het |
| Trim25 |
T |
C |
11: 88,890,750 (GRCm39) |
S146P |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,566,935 (GRCm39) |
D392G |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,623,665 (GRCm39) |
R191Q |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdfy2 |
T |
A |
14: 63,137,748 (GRCm39) |
S84T |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,895,832 (GRCm39) |
F225I |
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 |
|
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 |
|
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'- CATCTCCAGAAAGCTGCTGCAG -3'
(R):5'- GCCCAGGAGCAAATTCACAG -3'
Sequencing Primer
(F):5'- GAAAGCTGCTGCAGACCCAG -3'
(R):5'- ATTGTCAAGGCCAGTTTGTCAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation