Incidental Mutation 'IGL01738:Srgap2'
| ID |
105776 |
| 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 # |
IGL01738
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131224164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 95
(I95V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
[ENSMUST00000187042]
|
| AlphaFold |
Q91Z67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097588
AA Change: I801V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: I801V
| 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 benign
Transcript: ENSMUST00000185596
|
| SMART Domains |
Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
coiled coil region
|
222 |
260 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
304 |
349 |
5e-12 |
BLAST |
|
RhoGAP
|
361 |
535 |
5.9e-62 |
SMART |
|
SH3
|
590 |
645 |
2.8e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186543
AA Change: I801V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: I801V
| 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 |
probably benign
Transcript: ENSMUST00000187042
AA Change: I95V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000140927
Gene: ENSMUSG00000026425
AA Change: I95V
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
25 |
80 |
2.8e-17 |
SMART |
|
low complexity region
|
146 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188604
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000188770
AA Change: I415V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190336
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,436,668 (GRCm39) |
D288V |
probably damaging |
Het |
| Agtr1a |
G |
A |
13: 30,565,021 (GRCm39) |
V29I |
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,933,600 (GRCm39) |
C364F |
probably damaging |
Het |
| Calcrl |
T |
G |
2: 84,200,793 (GRCm39) |
M84L |
probably benign |
Het |
| Cep128 |
C |
A |
12: 91,197,616 (GRCm39) |
G402C |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,785,624 (GRCm39) |
L422P |
probably damaging |
Het |
| Cnbd2 |
C |
A |
2: 156,217,537 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,182,016 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,731,745 (GRCm39) |
S134P |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,114,922 (GRCm39) |
L179R |
possibly damaging |
Het |
| Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
| Gfm1 |
A |
G |
3: 67,363,994 (GRCm39) |
E490G |
probably benign |
Het |
| Glt1d1 |
T |
G |
5: 127,709,419 (GRCm39) |
|
probably benign |
Het |
| Gm10267 |
A |
T |
18: 44,292,342 (GRCm39) |
I10K |
possibly damaging |
Het |
| Htra4 |
A |
G |
8: 25,515,727 (GRCm39) |
V437A |
probably damaging |
Het |
| Ighv1-69 |
T |
C |
12: 115,587,061 (GRCm39) |
Q24R |
possibly damaging |
Het |
| Igkv14-111 |
G |
A |
6: 68,233,443 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
A |
T |
10: 6,840,575 (GRCm39) |
I374N |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,373,648 (GRCm39) |
D1447G |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,873,749 (GRCm39) |
F1681S |
probably damaging |
Het |
| Mmp3 |
A |
T |
9: 7,446,946 (GRCm39) |
N42I |
possibly damaging |
Het |
| Mybpc1 |
G |
T |
10: 88,406,507 (GRCm39) |
F126L |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,266,652 (GRCm39) |
K631E |
probably damaging |
Het |
| Or8b43 |
A |
C |
9: 38,360,942 (GRCm39) |
Y258S |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,411,144 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,097,091 (GRCm39) |
L124R |
probably damaging |
Het |
| Sstr5 |
A |
T |
17: 25,710,584 (GRCm39) |
I215N |
probably damaging |
Het |
| Top3b |
G |
A |
16: 16,698,468 (GRCm39) |
V104M |
probably benign |
Het |
| Tspan8 |
G |
A |
10: 115,653,570 (GRCm39) |
|
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,898,020 (GRCm39) |
Y345C |
probably damaging |
Het |
| Vmn2r17 |
G |
A |
5: 109,577,364 (GRCm39) |
G472S |
probably damaging |
Het |
| Zmpste24 |
A |
T |
4: 120,918,308 (GRCm39) |
L438Q |
probably 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 |
|
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 |
|
|
IGL02559:Srgap2
|
APN |
1 |
131,452,674 (GRCm39) |
critical splice donor 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 |
2014-01-21 |
Incidental Mutation