Incidental Mutation 'IGL02326:Srgap2'
| ID |
288503 |
| 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 # |
IGL02326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 131284645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
|
| AlphaFold |
Q91Z67 |
| 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: 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 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 |
|
| 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 |
|---|
| 4930432M17Rik |
T |
C |
3: 121,465,051 (GRCm39) |
V29A |
unknown |
Het |
| Abcc8 |
C |
A |
7: 45,772,281 (GRCm39) |
|
probably null |
Het |
| Ankar |
A |
T |
1: 72,705,514 (GRCm39) |
I614N |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,873,364 (GRCm39) |
R49H |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,671,654 (GRCm39) |
H1123R |
probably damaging |
Het |
| Casp12 |
T |
C |
9: 5,358,317 (GRCm39) |
Y375H |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,062,770 (GRCm39) |
I861T |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,902,764 (GRCm39) |
L485P |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,336,712 (GRCm39) |
N25K |
possibly damaging |
Het |
| Col14a1 |
T |
C |
15: 55,282,193 (GRCm39) |
V818A |
unknown |
Het |
| Csmd3 |
G |
A |
15: 47,619,359 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,869,755 (GRCm39) |
Y509C |
probably damaging |
Het |
| Fabp2 |
C |
T |
3: 122,692,395 (GRCm39) |
R96C |
probably damaging |
Het |
| Fam53a |
T |
C |
5: 33,757,938 (GRCm39) |
D395G |
probably damaging |
Het |
| Gabrb1 |
T |
A |
5: 71,858,190 (GRCm39) |
I72K |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,340,964 (GRCm39) |
S4479N |
probably damaging |
Het |
| Hrnr |
C |
T |
3: 93,231,052 (GRCm39) |
T430I |
unknown |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,235 (GRCm39) |
T47S |
probably benign |
Het |
| Ilk |
C |
A |
7: 105,390,840 (GRCm39) |
P261Q |
probably damaging |
Het |
| Ints10 |
T |
G |
8: 69,257,485 (GRCm39) |
D228E |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,472,816 (GRCm39) |
S782R |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,467,897 (GRCm39) |
S1046P |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,354,113 (GRCm39) |
P374S |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,853 (GRCm39) |
I29F |
probably benign |
Het |
| Or5b108 |
C |
A |
19: 13,168,779 (GRCm39) |
Y249* |
probably null |
Het |
| Or5j1 |
G |
A |
2: 86,879,355 (GRCm39) |
S75L |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,699,019 (GRCm39) |
I228N |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,624,941 (GRCm39) |
Y246H |
probably benign |
Het |
| Plekha5 |
G |
T |
6: 140,529,576 (GRCm39) |
G340* |
probably null |
Het |
| Plxna4 |
T |
A |
6: 32,129,840 (GRCm39) |
M1828L |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,105 (GRCm39) |
I252T |
probably benign |
Het |
| Pura |
A |
G |
18: 36,420,831 (GRCm39) |
D206G |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,612,713 (GRCm39) |
F782I |
probably damaging |
Het |
| Rbp4 |
T |
C |
19: 38,112,563 (GRCm39) |
D90G |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scn7a |
C |
A |
2: 66,530,392 (GRCm39) |
R651L |
probably benign |
Het |
| Sh2d3c |
A |
T |
2: 32,639,163 (GRCm39) |
|
probably null |
Het |
| Slc43a1 |
T |
G |
2: 84,680,115 (GRCm39) |
L87R |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,099 (GRCm39) |
T300A |
probably benign |
Het |
| Tkt |
G |
A |
14: 30,294,182 (GRCm39) |
V531M |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,233,431 (GRCm39) |
D173G |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,388,861 (GRCm39) |
H451N |
probably benign |
Het |
| Ugt2b38 |
C |
T |
5: 87,571,592 (GRCm39) |
D147N |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,255 (GRCm39) |
I41T |
probably benign |
Het |
| Vwa5a |
A |
T |
9: 38,649,252 (GRCm39) |
T667S |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,889,633 (GRCm39) |
E672G |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,834,727 (GRCm39) |
M1K |
probably null |
Het |
| Zmym1 |
T |
C |
4: 126,941,553 (GRCm39) |
E847G |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation