Incidental Mutation 'IGL02559:Srgap2'
ID |
298640 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Srgap2
|
Ensembl Gene |
ENSMUSG00000026425 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 2 |
Synonyms |
Fnbp2, 9930124L22Rik, FBP2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02559
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to C
at 131452674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068613]
[ENSMUST00000097588]
[ENSMUST00000186543]
|
AlphaFold |
Q91Z67 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068613
|
SMART Domains |
Protein: ENSMUSP00000068111 Gene: ENSMUSG00000055184
Domain | Start | End | E-Value | Type |
Pfam:FAM72
|
5 |
149 |
3.9e-84 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000097588
|
SMART Domains |
Protein: ENSMUSP00000095195 Gene: ENSMUSG00000026425
Domain | Start | End | E-Value | Type |
FCH
|
22 |
120 |
7.33e-18 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
coiled coil region
|
363 |
401 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
445 |
490 |
7e-12 |
BLAST |
RhoGAP
|
502 |
676 |
9.6e-60 |
SMART |
SH3
|
731 |
786 |
4.52e-15 |
SMART |
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
coiled coil region
|
940 |
967 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186543
|
SMART Domains |
Protein: ENSMUSP00000139405 Gene: ENSMUSG00000026425
Domain | Start | End | E-Value | Type |
FCH
|
22 |
120 |
3.7e-20 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
coiled coil region
|
363 |
401 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
445 |
490 |
7e-12 |
BLAST |
RhoGAP
|
502 |
676 |
5.9e-62 |
SMART |
SH3
|
731 |
786 |
2.8e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189893
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014] PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are born at below the expected Mendelian ratio, but are otherwise viable. Layer 5 cortical pyramidal neurons exhibit an increased density of dendritic spines with a decreased spine head width and increased length of spine necks. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,507,433 (GRCm39) |
Q1004* |
probably null |
Het |
Bahcc1 |
A |
G |
11: 120,175,998 (GRCm39) |
D1914G |
probably damaging |
Het |
Bcl11b |
A |
T |
12: 107,881,653 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Col24a1 |
A |
T |
3: 145,019,934 (GRCm39) |
I102F |
probably benign |
Het |
Col7a1 |
C |
T |
9: 108,802,284 (GRCm39) |
R2063C |
unknown |
Het |
Ddo |
T |
A |
10: 40,523,517 (GRCm39) |
L169Q |
probably damaging |
Het |
Defb4 |
G |
T |
8: 19,251,313 (GRCm39) |
C60F |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,862,559 (GRCm39) |
|
probably benign |
Het |
Dysf |
A |
T |
6: 84,044,428 (GRCm39) |
|
probably benign |
Het |
Fasn |
G |
A |
11: 120,699,892 (GRCm39) |
A2253V |
possibly damaging |
Het |
Fbxw26 |
T |
C |
9: 109,551,232 (GRCm39) |
D355G |
probably benign |
Het |
Gak |
C |
T |
5: 108,732,098 (GRCm39) |
E797K |
probably null |
Het |
Gm10654 |
T |
C |
8: 71,384,774 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
T |
C |
2: 174,183,729 (GRCm39) |
|
probably benign |
Het |
H2bc11 |
T |
A |
13: 22,227,533 (GRCm39) |
V45E |
possibly damaging |
Het |
Hdac3 |
A |
G |
18: 38,087,944 (GRCm39) |
F8S |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,140,301 (GRCm39) |
|
probably null |
Het |
Klhl1 |
A |
G |
14: 96,389,396 (GRCm39) |
V586A |
possibly damaging |
Het |
Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
Mmp28 |
G |
T |
11: 83,338,566 (GRCm39) |
N128K |
probably benign |
Het |
Mndal |
T |
C |
1: 173,700,486 (GRCm39) |
T162A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
Mylpf |
A |
G |
7: 126,813,315 (GRCm39) |
Y133C |
probably damaging |
Het |
Nup210l |
G |
A |
3: 90,067,260 (GRCm39) |
A767T |
probably benign |
Het |
Or10j3b |
T |
C |
1: 173,044,088 (GRCm39) |
V290A |
probably damaging |
Het |
Or52n2 |
T |
A |
7: 104,542,161 (GRCm39) |
R225W |
probably benign |
Het |
Or5au1 |
A |
G |
14: 52,273,464 (GRCm39) |
Y35H |
probably damaging |
Het |
Paics |
A |
G |
5: 77,112,451 (GRCm39) |
I312V |
possibly damaging |
Het |
Pkdrej |
G |
T |
15: 85,702,049 (GRCm39) |
Q1296K |
probably benign |
Het |
Rufy1 |
A |
G |
11: 50,311,310 (GRCm39) |
F170L |
probably damaging |
Het |
Shcbp1 |
T |
A |
8: 4,799,305 (GRCm39) |
E93V |
probably damaging |
Het |
Slamf1 |
T |
A |
1: 171,594,826 (GRCm39) |
I11K |
possibly damaging |
Het |
Slc5a5 |
C |
T |
8: 71,342,915 (GRCm39) |
G215D |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,867,514 (GRCm39) |
V473D |
probably benign |
Het |
Slit1 |
A |
G |
19: 41,709,524 (GRCm39) |
V123A |
probably benign |
Het |
Stk32c |
T |
C |
7: 138,700,606 (GRCm39) |
M208V |
probably benign |
Het |
Syt15 |
T |
C |
14: 33,943,760 (GRCm39) |
V103A |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,360,997 (GRCm39) |
L456Q |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,554,998 (GRCm39) |
|
probably benign |
Het |
Tepsin |
G |
T |
11: 119,987,731 (GRCm39) |
D62E |
probably benign |
Het |
Thap3 |
T |
C |
4: 152,068,144 (GRCm39) |
D106G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,616,561 (GRCm39) |
D14818G |
probably damaging |
Het |
Txndc2 |
T |
C |
17: 65,946,585 (GRCm39) |
N39S |
possibly damaging |
Het |
Ubxn11 |
A |
G |
4: 133,852,254 (GRCm39) |
E200G |
probably damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,200,046 (GRCm39) |
Q469P |
probably damaging |
Het |
Yipf2 |
T |
C |
9: 21,503,482 (GRCm39) |
T22A |
probably damaging |
Het |
Ypel1 |
T |
C |
16: 16,927,515 (GRCm39) |
K26E |
possibly damaging |
Het |
|
Other mutations in Srgap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00677:Srgap2
|
APN |
1 |
131,284,438 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01738:Srgap2
|
APN |
1 |
131,224,164 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01933:Srgap2
|
APN |
1 |
131,339,593 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01964:Srgap2
|
APN |
1 |
131,217,316 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02028:Srgap2
|
APN |
1 |
131,224,173 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02159:Srgap2
|
APN |
1 |
131,247,404 (GRCm39) |
splice site |
probably benign |
|
IGL02326:Srgap2
|
APN |
1 |
131,284,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02396:Srgap2
|
APN |
1 |
131,220,413 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02407:Srgap2
|
APN |
1 |
131,247,340 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02444:Srgap2
|
APN |
1 |
131,252,891 (GRCm39) |
splice site |
probably null |
|
IGL02900:Srgap2
|
APN |
1 |
131,339,534 (GRCm39) |
splice site |
probably benign |
|
IGL03150:Srgap2
|
APN |
1 |
131,238,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Srgap2
|
UTSW |
1 |
131,283,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R0008:Srgap2
|
UTSW |
1 |
131,283,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R0016:Srgap2
|
UTSW |
1 |
131,277,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0016:Srgap2
|
UTSW |
1 |
131,277,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0044:Srgap2
|
UTSW |
1 |
131,247,289 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0441:Srgap2
|
UTSW |
1 |
131,264,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R0580:Srgap2
|
UTSW |
1 |
131,277,239 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0882:Srgap2
|
UTSW |
1 |
131,217,253 (GRCm39) |
missense |
probably benign |
0.00 |
R1412:Srgap2
|
UTSW |
1 |
131,228,151 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1501:Srgap2
|
UTSW |
1 |
131,220,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R1740:Srgap2
|
UTSW |
1 |
131,217,126 (GRCm39) |
missense |
probably benign |
0.00 |
R1764:Srgap2
|
UTSW |
1 |
131,247,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1772:Srgap2
|
UTSW |
1 |
131,247,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R1776:Srgap2
|
UTSW |
1 |
131,339,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R2393:Srgap2
|
UTSW |
1 |
131,259,872 (GRCm39) |
missense |
probably benign |
0.00 |
R3011:Srgap2
|
UTSW |
1 |
131,238,329 (GRCm39) |
missense |
probably damaging |
0.99 |
R3149:Srgap2
|
UTSW |
1 |
131,220,327 (GRCm39) |
missense |
probably benign |
0.00 |
R3150:Srgap2
|
UTSW |
1 |
131,220,327 (GRCm39) |
missense |
probably benign |
0.00 |
R3800:Srgap2
|
UTSW |
1 |
131,238,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Srgap2
|
UTSW |
1 |
131,217,210 (GRCm39) |
missense |
probably benign |
0.00 |
R4884:Srgap2
|
UTSW |
1 |
131,220,314 (GRCm39) |
splice site |
probably null |
|
R5454:Srgap2
|
UTSW |
1 |
131,217,475 (GRCm39) |
missense |
probably benign |
0.08 |
R5536:Srgap2
|
UTSW |
1 |
131,228,128 (GRCm39) |
splice site |
probably null |
|
R6113:Srgap2
|
UTSW |
1 |
131,283,243 (GRCm39) |
splice site |
probably null |
|
R6174:Srgap2
|
UTSW |
1 |
131,217,354 (GRCm39) |
missense |
probably benign |
0.00 |
R6180:Srgap2
|
UTSW |
1 |
131,277,279 (GRCm39) |
missense |
probably benign |
0.00 |
R6341:Srgap2
|
UTSW |
1 |
131,219,367 (GRCm39) |
missense |
probably benign |
0.02 |
R6357:Srgap2
|
UTSW |
1 |
131,283,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6363:Srgap2
|
UTSW |
1 |
131,226,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R6770:Srgap2
|
UTSW |
1 |
131,226,248 (GRCm39) |
missense |
probably benign |
0.00 |
R6934:Srgap2
|
UTSW |
1 |
131,244,969 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7007:Srgap2
|
UTSW |
1 |
131,247,275 (GRCm39) |
missense |
probably benign |
0.15 |
R7077:Srgap2
|
UTSW |
1 |
131,272,187 (GRCm39) |
missense |
|
|
R7147:Srgap2
|
UTSW |
1 |
131,238,332 (GRCm39) |
missense |
|
|
R7326:Srgap2
|
UTSW |
1 |
131,219,351 (GRCm39) |
nonsense |
probably null |
|
R7467:Srgap2
|
UTSW |
1 |
131,220,405 (GRCm39) |
missense |
probably damaging |
0.97 |
R7500:Srgap2
|
UTSW |
1 |
131,364,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7579:Srgap2
|
UTSW |
1 |
131,220,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R7923:Srgap2
|
UTSW |
1 |
131,228,151 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7989:Srgap2
|
UTSW |
1 |
131,226,170 (GRCm39) |
missense |
|
|
R8283:Srgap2
|
UTSW |
1 |
131,291,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R8708:Srgap2
|
UTSW |
1 |
131,273,544 (GRCm39) |
nonsense |
probably null |
|
R8784:Srgap2
|
UTSW |
1 |
131,223,212 (GRCm39) |
missense |
unknown |
|
R8970:Srgap2
|
UTSW |
1 |
131,226,104 (GRCm39) |
missense |
|
|
R9001:Srgap2
|
UTSW |
1 |
131,291,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R9006:Srgap2
|
UTSW |
1 |
131,283,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R9382:Srgap2
|
UTSW |
1 |
131,217,346 (GRCm39) |
missense |
probably benign |
|
R9389:Srgap2
|
UTSW |
1 |
131,283,365 (GRCm39) |
missense |
probably damaging |
0.96 |
R9599:Srgap2
|
UTSW |
1 |
131,272,164 (GRCm39) |
missense |
|
|
R9616:Srgap2
|
UTSW |
1 |
131,252,828 (GRCm39) |
missense |
|
|
X0022:Srgap2
|
UTSW |
1 |
131,339,687 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Srgap2
|
UTSW |
1 |
131,283,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2015-04-16 |