Incidental Mutation 'R7787:Srgap3'
| ID |
599588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
045843-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R7787 (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 112752520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 321
(M321I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088373
AA Change: M321I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: M321I
| 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: M321I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: M321I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (74/74) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,263,926 (GRCm39) |
I38N |
probably damaging |
Het |
| Abcb4 |
G |
A |
5: 8,959,220 (GRCm39) |
V216M |
probably damaging |
Het |
| Abcc2 |
G |
A |
19: 43,772,685 (GRCm39) |
V32M |
probably damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,471,625 (GRCm39) |
V714F |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,986,679 (GRCm39) |
D2654E |
unknown |
Het |
| Ak8 |
T |
A |
2: 28,602,324 (GRCm39) |
I86N |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,040,780 (GRCm39) |
R635Q |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,150,700 (GRCm39) |
R1466H |
possibly damaging |
Het |
| Bltp1 |
A |
C |
3: 36,939,557 (GRCm39) |
H137P |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,066,866 (GRCm39) |
T252A |
unknown |
Het |
| Cacna1e |
T |
A |
1: 154,358,314 (GRCm39) |
I648F |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,917,412 (GRCm39) |
D121G |
probably benign |
Het |
| Cc2d1a |
C |
A |
8: 84,860,144 (GRCm39) |
Q904H |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,903 (GRCm39) |
S212P |
probably damaging |
Het |
| Cfap69 |
C |
T |
5: 5,639,260 (GRCm39) |
C638Y |
probably damaging |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,659,594 (GRCm39) |
V754A |
probably benign |
Het |
| Cnpy4 |
T |
A |
5: 138,190,900 (GRCm39) |
H187Q |
probably benign |
Het |
| Cpne5 |
A |
T |
17: 29,407,261 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
T |
2: 145,767,515 (GRCm39) |
N359K |
probably benign |
Het |
| Cyb561 |
A |
T |
11: 105,828,466 (GRCm39) |
L63H |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,775,676 (GRCm39) |
T540A |
probably benign |
Het |
| Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
| Fstl5 |
A |
C |
3: 76,337,131 (GRCm39) |
D230A |
probably damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Hecw1 |
T |
C |
13: 14,493,494 (GRCm39) |
Q337R |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,632,343 (GRCm39) |
Y865N |
probably damaging |
Het |
| Hyal6 |
A |
G |
6: 24,743,735 (GRCm39) |
Y477C |
probably damaging |
Het |
| Ifi205 |
C |
T |
1: 173,842,640 (GRCm39) |
G352E |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,842,644 (GRCm39) |
S351C |
probably damaging |
Het |
| Irak3 |
C |
A |
10: 120,012,256 (GRCm39) |
Q169H |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,453,499 (GRCm39) |
N99K |
probably benign |
Het |
| Kng2 |
A |
G |
16: 22,818,598 (GRCm39) |
F298S |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,192,380 (GRCm39) |
E256G |
|
Het |
| Lamc3 |
T |
C |
2: 31,790,551 (GRCm39) |
I257T |
probably damaging |
Het |
| Mas1 |
A |
C |
17: 13,061,374 (GRCm39) |
N16K |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,794 (GRCm39) |
L3855Q |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Mybph |
G |
A |
1: 134,125,246 (GRCm39) |
G258D |
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,364,533 (GRCm39) |
H4358Q |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,552,208 (GRCm39) |
D1012G |
unknown |
Het |
| Nub1 |
C |
A |
5: 24,913,801 (GRCm39) |
Q561K |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,107,980 (GRCm39) |
N1029S |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,853,252 (GRCm39) |
C99* |
probably null |
Het |
| Or56a4 |
T |
G |
7: 104,806,401 (GRCm39) |
I163L |
probably benign |
Het |
| Or5k15 |
A |
G |
16: 58,709,953 (GRCm39) |
F210S |
probably benign |
Het |
| Or6e1 |
A |
G |
14: 54,520,169 (GRCm39) |
L61P |
probably damaging |
Het |
| Or8g19 |
C |
T |
9: 39,055,548 (GRCm39) |
L51F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,280,277 (GRCm39) |
Y701N |
possibly damaging |
Het |
| Pglyrp4 |
C |
G |
3: 90,640,295 (GRCm39) |
H182D |
probably damaging |
Het |
| Phaf1 |
T |
G |
8: 105,957,820 (GRCm39) |
V42G |
probably damaging |
Het |
| Pkp4 |
C |
A |
2: 59,152,881 (GRCm39) |
D576E |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,083,811 (GRCm39) |
V17A |
unknown |
Het |
| Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
| Pou4f1 |
A |
T |
14: 104,703,460 (GRCm39) |
M324K |
unknown |
Het |
| Ppa2 |
G |
T |
3: 133,036,259 (GRCm39) |
G138W |
probably damaging |
Het |
| Prob1 |
A |
T |
18: 35,785,285 (GRCm39) |
F990I |
possibly damaging |
Het |
| Proser1 |
T |
A |
3: 53,380,969 (GRCm39) |
I182N |
probably damaging |
Het |
| Sgk3 |
T |
C |
1: 9,952,016 (GRCm39) |
L214P |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,496,762 (GRCm39) |
S1765P |
possibly damaging |
Het |
| Slc15a2 |
G |
A |
16: 36,572,228 (GRCm39) |
S712L |
probably benign |
Het |
| Slc38a9 |
T |
C |
13: 112,825,880 (GRCm39) |
L106P |
probably damaging |
Het |
| Slc43a2 |
G |
A |
11: 75,453,900 (GRCm39) |
R271H |
probably damaging |
Het |
| Spsb4 |
T |
A |
9: 96,877,643 (GRCm39) |
I227F |
probably damaging |
Het |
| Stam2 |
T |
C |
2: 52,596,418 (GRCm39) |
I340V |
probably benign |
Het |
| Tbc1d5 |
T |
A |
17: 51,181,711 (GRCm39) |
R341* |
probably null |
Het |
| Terf2ip |
A |
C |
8: 112,742,087 (GRCm39) |
E260D |
probably damaging |
Het |
| Tert |
G |
T |
13: 73,797,051 (GRCm39) |
K1096N |
probably damaging |
Het |
| Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
| Ube3d |
T |
A |
9: 86,254,395 (GRCm39) |
Q362L |
possibly damaging |
Het |
| Unc5c |
G |
A |
3: 141,474,313 (GRCm39) |
G295D |
probably damaging |
Het |
| Wnt7b |
T |
A |
15: 85,428,112 (GRCm39) |
I117F |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,895,043 (GRCm39) |
|
probably null |
Het |
| Zfp619 |
A |
G |
7: 39,186,226 (GRCm39) |
Q752R |
possibly damaging |
Het |
| Zkscan3 |
T |
C |
13: 21,572,034 (GRCm39) |
K533E |
possibly 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 |
|
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 |
|
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'- AAACCGAAGAGGCCTCTAGC -3'
(R):5'- TCCCCAAGTGCTGTGATTTGG -3'
Sequencing Primer
(F):5'- AACCTTCTGGATGGTGCAAC -3'
(R):5'- CTGTGATTTGGGCTTTCACGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation