Incidental Mutation 'R6357:Srgap2'
| ID |
512362 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131283280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 267
(Y267C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
|
| AlphaFold |
Q91Z67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097588
AA Change: Y267C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: Y267C
| 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 damaging
Transcript: ENSMUST00000185596
AA Change: Y126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: Y126C
| 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 damaging
Transcript: ENSMUST00000186543
AA Change: Y267C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: Y267C
| 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 |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.8%
|
| 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 |
|---|
| Acsbg3 |
T |
C |
17: 57,184,591 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
G |
6: 48,907,908 (GRCm39) |
M303V |
probably benign |
Het |
| Armh4 |
A |
T |
14: 50,010,769 (GRCm39) |
S313T |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,714,710 (GRCm39) |
D140G |
probably benign |
Het |
| Card10 |
T |
C |
15: 78,683,579 (GRCm39) |
E188G |
probably damaging |
Het |
| Cenpq |
T |
C |
17: 41,235,418 (GRCm39) |
E193G |
probably damaging |
Het |
| Cep164 |
G |
A |
9: 45,682,182 (GRCm39) |
L1874F |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,428,321 (GRCm39) |
M889T |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
| Dynlt2b |
T |
G |
16: 32,247,873 (GRCm39) |
|
probably null |
Het |
| Eci2 |
A |
G |
13: 35,177,082 (GRCm39) |
V26A |
possibly damaging |
Het |
| Eftud2 |
A |
T |
11: 102,755,606 (GRCm39) |
N200K |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,837,143 (GRCm39) |
H357L |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,449,076 (GRCm39) |
*395R |
probably null |
Het |
| Galt |
C |
T |
4: 41,757,565 (GRCm39) |
P246S |
probably benign |
Het |
| Gjb3 |
A |
T |
4: 127,220,423 (GRCm39) |
Y36* |
probably null |
Het |
| Gli2 |
T |
C |
1: 118,769,689 (GRCm39) |
E621G |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,258,665 (GRCm39) |
D201G |
probably damaging |
Het |
| Gm10801 |
C |
CGTCA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
T |
C |
9: 26,825,424 (GRCm39) |
|
probably null |
Het |
| Gm5565 |
T |
A |
5: 146,097,283 (GRCm39) |
H13L |
possibly damaging |
Het |
| Hydin |
A |
C |
8: 111,268,289 (GRCm39) |
T2923P |
possibly damaging |
Het |
| Kank1 |
A |
T |
19: 25,388,717 (GRCm39) |
I797L |
probably benign |
Het |
| Klhdc8a |
A |
T |
1: 132,230,891 (GRCm39) |
Q252L |
probably damaging |
Het |
| Kmt5c |
T |
C |
7: 4,745,204 (GRCm39) |
F65S |
possibly damaging |
Het |
| Lix1 |
C |
T |
17: 17,666,255 (GRCm39) |
P138L |
probably benign |
Het |
| Lnpep |
T |
C |
17: 17,773,176 (GRCm39) |
N664S |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,291,888 (GRCm39) |
Y214* |
probably null |
Het |
| Nefl |
A |
G |
14: 68,321,767 (GRCm39) |
E119G |
probably damaging |
Het |
| Nptxr |
C |
A |
15: 79,678,516 (GRCm39) |
R257L |
possibly damaging |
Het |
| Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
| Or7e173 |
T |
A |
9: 19,938,925 (GRCm39) |
Q103L |
probably damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,709 (GRCm39) |
I210V |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,240 (GRCm39) |
Q534L |
probably benign |
Het |
| Psma1 |
T |
C |
7: 113,873,602 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
G |
A |
14: 33,678,991 (GRCm39) |
A980T |
probably damaging |
Het |
| Ripply2 |
T |
A |
9: 86,898,331 (GRCm39) |
S58R |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,190 (GRCm39) |
V454A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,446,273 (GRCm39) |
D2773G |
possibly damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,568,243 (GRCm39) |
V366E |
possibly damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
| Spata31f1a |
T |
A |
4: 42,850,393 (GRCm39) |
I588F |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,422,789 (GRCm39) |
S38G |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,994,950 (GRCm39) |
T189A |
probably benign |
Het |
| Tas2r106 |
A |
G |
6: 131,654,925 (GRCm39) |
*309Q |
probably null |
Het |
| Vmn2r44 |
T |
C |
7: 8,373,657 (GRCm39) |
M511V |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,823,006 (GRCm39) |
Y1364* |
probably null |
Het |
| Zbtb8a |
T |
C |
4: 129,248,092 (GRCm39) |
H393R |
probably benign |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCTTTACAATGGATCATGGC -3'
(R):5'- GCCTTCATCTCTCCCAGAACAG -3'
Sequencing Primer
(F):5'- ACAATGGATCATGGCTGCTATC -3'
(R):5'- TGACAGGTCATCAAGATGGCTCATC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation