Incidental Mutation 'R1876:Srgap3'
ID |
211219 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap3
|
Ensembl Gene |
ENSMUSG00000030257 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
Synonyms |
Arhgap14, D130026O08Rik |
MMRRC Submission |
039898-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R1876 (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 112752527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 319
(M319T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085712
(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: M319T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000085712 Gene: ENSMUSG00000030257 AA Change: M319T
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: M319T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108794 Gene: ENSMUSG00000030257 AA Change: M319T
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 |
0.6168 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.2%
|
Validation Efficiency |
99% (82/83) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,025,396 (GRCm39) |
C961F |
probably damaging |
Het |
Abca16 |
A |
C |
7: 120,032,608 (GRCm39) |
D209A |
probably damaging |
Het |
Adamts14 |
T |
C |
10: 61,036,151 (GRCm39) |
I1047V |
probably benign |
Het |
Ak1 |
A |
G |
2: 32,520,282 (GRCm39) |
K27E |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,011,809 (GRCm39) |
D837E |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,473,104 (GRCm39) |
Y1653C |
probably damaging |
Het |
Atad2 |
T |
G |
15: 57,970,264 (GRCm39) |
I446L |
probably benign |
Het |
Atp8b3 |
T |
G |
10: 80,365,912 (GRCm39) |
T313P |
possibly damaging |
Het |
Btg4 |
T |
C |
9: 51,028,489 (GRCm39) |
L72S |
probably damaging |
Het |
Canx |
A |
G |
11: 50,195,186 (GRCm39) |
I294T |
probably damaging |
Het |
Casp1 |
G |
A |
9: 5,303,663 (GRCm39) |
E250K |
probably benign |
Het |
Chchd10 |
T |
A |
10: 75,772,166 (GRCm39) |
S46T |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,585,563 (GRCm39) |
Y1271* |
probably null |
Het |
Col3a1 |
G |
A |
1: 45,381,395 (GRCm39) |
|
probably null |
Het |
Ctc1 |
A |
T |
11: 68,922,390 (GRCm39) |
T872S |
probably benign |
Het |
Cx3cl1 |
T |
C |
8: 95,507,048 (GRCm39) |
F351S |
probably damaging |
Het |
Cyb5r4 |
T |
A |
9: 86,937,867 (GRCm39) |
H295Q |
probably damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,105,656 (GRCm39) |
T285A |
probably benign |
Het |
Dip2a |
G |
A |
10: 76,153,925 (GRCm39) |
T135M |
probably damaging |
Het |
Eif1ad18 |
T |
G |
12: 88,050,810 (GRCm39) |
I115S |
probably damaging |
Het |
Fgf10 |
A |
G |
13: 118,925,695 (GRCm39) |
E158G |
probably damaging |
Het |
Ftcd |
G |
T |
10: 76,417,403 (GRCm39) |
A281S |
probably benign |
Het |
Gpat4 |
A |
T |
8: 23,669,486 (GRCm39) |
M333K |
possibly damaging |
Het |
Gpcpd1 |
A |
G |
2: 132,376,673 (GRCm39) |
L541P |
probably damaging |
Het |
Grk5 |
T |
C |
19: 61,071,663 (GRCm39) |
Y408H |
probably damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,153,627 (GRCm39) |
|
probably null |
Het |
Hsd17b13 |
T |
A |
5: 104,116,633 (GRCm39) |
N127I |
probably damaging |
Het |
Hspa4 |
T |
G |
11: 53,174,983 (GRCm39) |
D158A |
probably benign |
Het |
Ice2 |
G |
A |
9: 69,322,857 (GRCm39) |
A451T |
possibly damaging |
Het |
Inpp5e |
A |
T |
2: 26,298,169 (GRCm39) |
I144K |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrrc49 |
T |
C |
9: 60,495,060 (GRCm39) |
I652V |
possibly damaging |
Het |
Man1a |
A |
T |
10: 53,795,268 (GRCm39) |
W571R |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,047,807 (GRCm39) |
S32P |
probably damaging |
Het |
Mrpl40 |
A |
G |
16: 18,691,224 (GRCm39) |
I162T |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mtmr12 |
T |
C |
15: 12,257,716 (GRCm39) |
W265R |
probably damaging |
Het |
Mup21 |
C |
T |
4: 62,067,663 (GRCm39) |
V79I |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,086,967 (GRCm39) |
|
probably benign |
Het |
Myom3 |
T |
A |
4: 135,506,711 (GRCm39) |
F495I |
probably benign |
Het |
Ncoa7 |
A |
T |
10: 30,574,122 (GRCm39) |
|
probably benign |
Het |
Nisch |
T |
C |
14: 30,895,594 (GRCm39) |
Y45C |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 32,766,435 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
A |
T |
2: 36,827,775 (GRCm39) |
I215F |
possibly damaging |
Het |
Or4k1 |
A |
G |
14: 50,377,629 (GRCm39) |
S156P |
probably damaging |
Het |
Pdcl |
A |
C |
2: 37,245,708 (GRCm39) |
H98Q |
probably damaging |
Het |
Pink1 |
A |
G |
4: 138,043,013 (GRCm39) |
V427A |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,769,067 (GRCm39) |
S2242P |
probably damaging |
Het |
Plrg1 |
C |
A |
3: 82,976,375 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,702,803 (GRCm39) |
F586S |
possibly damaging |
Het |
Pnpla7 |
G |
A |
2: 24,930,985 (GRCm39) |
V867M |
possibly damaging |
Het |
Ppfia3 |
T |
A |
7: 45,001,631 (GRCm39) |
D427V |
possibly damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,521,971 (GRCm39) |
|
probably benign |
Het |
Pros1 |
A |
T |
16: 62,723,881 (GRCm39) |
S210C |
probably damaging |
Het |
Ptk2b |
A |
G |
14: 66,395,841 (GRCm39) |
S839P |
probably benign |
Het |
Ptpre |
T |
C |
7: 135,280,046 (GRCm39) |
V570A |
possibly damaging |
Het |
Rbm48 |
C |
T |
5: 3,645,259 (GRCm39) |
A142T |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,883,909 (GRCm39) |
|
probably null |
Het |
Scnn1a |
A |
G |
6: 125,315,801 (GRCm39) |
E384G |
probably benign |
Het |
Sec23ip |
A |
G |
7: 128,354,575 (GRCm39) |
Y277C |
probably benign |
Het |
Slc25a29 |
G |
A |
12: 108,793,637 (GRCm39) |
T42M |
probably damaging |
Het |
Slc6a4 |
A |
T |
11: 76,905,990 (GRCm39) |
T264S |
probably benign |
Het |
Strn4 |
T |
A |
7: 16,572,207 (GRCm39) |
I640N |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,225,475 (GRCm39) |
D739G |
probably benign |
Het |
Tigd4 |
T |
A |
3: 84,501,242 (GRCm39) |
L53* |
probably null |
Het |
Tlr6 |
T |
A |
5: 65,112,763 (GRCm39) |
D48V |
probably damaging |
Het |
Tmem125 |
T |
C |
4: 118,399,101 (GRCm39) |
D110G |
probably damaging |
Het |
Tmem198 |
A |
G |
1: 75,461,567 (GRCm39) |
D341G |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,880,682 (GRCm39) |
F462L |
possibly damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Ush2a |
T |
A |
1: 188,410,486 (GRCm39) |
I2378N |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,654,127 (GRCm39) |
T108A |
probably damaging |
Het |
Vmn1r236 |
T |
A |
17: 21,506,900 (GRCm39) |
I6K |
probably benign |
Het |
Vmn2r65 |
A |
T |
7: 84,595,505 (GRCm39) |
V393D |
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 |
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 |
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'- CTAAACCGAAGAGGCCTCTAG -3'
(R):5'- ATCATAGGTCCCCACTCCAG -3'
Sequencing Primer
(F):5'- AACCTTCTGGATGGTGCAAC -3'
(R):5'- ATAGGTCCCCACTCCAGCTCTC -3'
|
Posted On |
2014-06-30 |