Incidental Mutation 'R4092:Srgap3'
| ID |
317664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R4092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112700045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 1002
(P1002T)
|
| 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: P1002T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: P1002T
| 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: P978T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: P978T
| 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 |
|
| Meta Mutation Damage Score |
0.0950 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,055,903 (GRCm39) |
H340Q |
probably benign |
Het |
| Adam22 |
A |
T |
5: 8,145,004 (GRCm39) |
I116N |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,678,103 (GRCm39) |
V794E |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,140 (GRCm39) |
S966P |
probably benign |
Het |
| Alox5 |
G |
A |
6: 116,389,635 (GRCm39) |
|
probably benign |
Het |
| Bmerb1 |
G |
A |
16: 13,867,346 (GRCm39) |
R68H |
probably damaging |
Het |
| Brip1 |
C |
T |
11: 86,039,347 (GRCm39) |
D396N |
possibly damaging |
Het |
| Catsper3 |
C |
T |
13: 55,932,484 (GRCm39) |
H4Y |
probably benign |
Het |
| Cmtm2a |
T |
C |
8: 105,019,403 (GRCm39) |
Y62C |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,658,265 (GRCm39) |
C715R |
probably damaging |
Het |
| Dio3 |
A |
G |
12: 110,246,234 (GRCm39) |
D190G |
possibly damaging |
Het |
| Efl1 |
A |
G |
7: 82,412,035 (GRCm39) |
E808G |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,194 (GRCm39) |
N116K |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,943 (GRCm39) |
D720G |
probably benign |
Het |
| Fbp2 |
C |
T |
13: 62,988,174 (GRCm39) |
V246M |
possibly damaging |
Het |
| Gm10197 |
G |
A |
19: 53,360,196 (GRCm39) |
|
probably benign |
Het |
| Icam2 |
C |
A |
11: 106,271,623 (GRCm39) |
M1I |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,351,935 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,771,470 (GRCm39) |
I209T |
probably benign |
Het |
| Lcmt1 |
T |
C |
7: 123,017,476 (GRCm39) |
V200A |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Mmadhc |
A |
G |
2: 50,177,895 (GRCm39) |
M174T |
probably benign |
Het |
| N4bp2 |
A |
G |
5: 65,947,799 (GRCm39) |
N143S |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,196,405 (GRCm39) |
A340V |
possibly damaging |
Het |
| Nid1 |
A |
G |
13: 13,661,224 (GRCm39) |
D708G |
probably damaging |
Het |
| Noc2l |
A |
C |
4: 156,327,033 (GRCm39) |
T295P |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,809 (GRCm39) |
N702I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,886 (GRCm39) |
M4083L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,790 (GRCm39) |
Y74C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,118 (GRCm39) |
I370N |
probably damaging |
Het |
| Paip1 |
T |
G |
13: 119,586,449 (GRCm39) |
S58A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,884,775 (GRCm39) |
T476A |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,703,314 (GRCm39) |
R57S |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,640,932 (GRCm39) |
S75P |
probably damaging |
Het |
| Raver1 |
A |
T |
9: 20,992,568 (GRCm39) |
L287Q |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
A |
9: 119,619,036 (GRCm39) |
M769L |
probably benign |
Het |
| Serpina16 |
G |
T |
12: 103,638,836 (GRCm39) |
H250Q |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,437,491 (GRCm39) |
G308D |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,851,893 (GRCm39) |
L673P |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,166 (GRCm39) |
K1036E |
possibly damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sptbn5 |
C |
A |
2: 119,897,532 (GRCm39) |
E550D |
probably damaging |
Het |
| Tollip |
C |
T |
7: 141,438,180 (GRCm39) |
R181H |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,330,784 (GRCm39) |
S600R |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,281,832 (GRCm39) |
Y315N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,551,037 (GRCm39) |
E367G |
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 |
|
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'- ATCTTCTCCGTGGGTGTCAC -3'
(R):5'- CTGGCTAGCAGTTCTGAAGAC -3'
Sequencing Primer
(F):5'- TGCTGAACCACAGGTCTGAC -3'
(R):5'- CAGTTCTGAAGACACTGTGTTGACC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation