Incidental Mutation 'R1501:Srgap2'
| ID |
169232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap2
|
| Ensembl Gene |
ENSMUSG00000026425 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 2 |
| Synonyms |
Fnbp2, 9930124L22Rik, FBP2 |
| MMRRC Submission |
040867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131220437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 179
(L179P)
|
| 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: L885P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: L885P
| 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
|
| 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 |
probably damaging
Transcript: ENSMUST00000187042
AA Change: L179P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140927
Gene: ENSMUSG00000026425
AA Change: L179P
| 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 |
probably benign
Transcript: ENSMUST00000188770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190336
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
T |
14: 78,750,787 (GRCm39) |
S533R |
probably benign |
Het |
| Amph |
C |
T |
13: 19,288,461 (GRCm39) |
Q317* |
probably null |
Het |
| Bach2 |
A |
G |
4: 32,562,279 (GRCm39) |
T249A |
possibly damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,703,137 (GRCm39) |
C845R |
probably damaging |
Het |
| Calml4 |
A |
G |
9: 62,778,622 (GRCm39) |
K12E |
probably benign |
Het |
| Chrd |
C |
T |
16: 20,556,283 (GRCm39) |
R615W |
probably damaging |
Het |
| Chst15 |
T |
A |
7: 131,870,798 (GRCm39) |
K246* |
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,235 (GRCm39) |
D182N |
probably benign |
Het |
| Cyp2d9 |
C |
A |
15: 82,338,525 (GRCm39) |
C186* |
probably null |
Het |
| Cyp3a13 |
G |
T |
5: 137,909,892 (GRCm39) |
|
probably null |
Het |
| Dcaf17 |
A |
T |
2: 70,912,332 (GRCm39) |
I320F |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,145,297 (GRCm39) |
I227V |
possibly damaging |
Het |
| Dlc1 |
G |
T |
8: 37,405,302 (GRCm39) |
N162K |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,317,670 (GRCm39) |
R455H |
probably benign |
Het |
| Drg2 |
G |
T |
11: 60,355,679 (GRCm39) |
A306S |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,465,076 (GRCm39) |
R422S |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,766,452 (GRCm39) |
V353A |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,617,756 (GRCm39) |
S34G |
probably benign |
Het |
| Enpp2 |
C |
A |
15: 54,702,910 (GRCm39) |
W862L |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,119,485 (GRCm39) |
I139V |
probably benign |
Het |
| Fhad1 |
C |
T |
4: 141,691,936 (GRCm39) |
R400H |
probably benign |
Het |
| Fv1 |
C |
T |
4: 147,954,595 (GRCm39) |
T387M |
probably damaging |
Het |
| Gatad1 |
T |
A |
5: 3,693,701 (GRCm39) |
D156V |
probably damaging |
Het |
| Gm4744 |
A |
G |
6: 40,927,367 (GRCm39) |
|
probably benign |
Het |
| Gm4799 |
G |
A |
10: 82,790,469 (GRCm39) |
|
noncoding transcript |
Het |
| Hadha |
A |
G |
5: 30,333,804 (GRCm39) |
F405S |
probably benign |
Het |
| Ifit3 |
T |
C |
19: 34,565,651 (GRCm39) |
V399A |
probably benign |
Het |
| Il1rapl1 |
G |
T |
X: 86,348,469 (GRCm39) |
Y150* |
probably null |
Het |
| Kirrel1 |
T |
C |
3: 86,997,779 (GRCm39) |
E248G |
probably benign |
Het |
| Krt72 |
C |
A |
15: 101,686,769 (GRCm39) |
K392N |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,444,528 (GRCm39) |
G309D |
probably damaging |
Het |
| Mc3r |
T |
G |
2: 172,091,300 (GRCm39) |
I174S |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,282,273 (GRCm39) |
D52G |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,168,256 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
G |
A |
1: 127,325,378 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
A |
T |
7: 64,039,252 (GRCm39) |
F239L |
probably damaging |
Het |
| Mrps7 |
T |
C |
11: 115,495,023 (GRCm39) |
S13P |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,323 (GRCm39) |
T527A |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,046,885 (GRCm39) |
H1156Y |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 68,989,129 (GRCm39) |
E120G |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,779,706 (GRCm39) |
E624G |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,767,079 (GRCm39) |
D99G |
probably null |
Het |
| Or4c102 |
G |
A |
2: 88,422,492 (GRCm39) |
V115I |
possibly damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,539 (GRCm39) |
I45T |
probably damaging |
Het |
| Or52n4b |
G |
A |
7: 108,143,782 (GRCm39) |
V15I |
probably benign |
Het |
| Or5p70 |
A |
C |
7: 107,995,289 (GRCm39) |
K321Q |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,598,146 (GRCm39) |
N802S |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,789,796 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,304,443 (GRCm39) |
I1670N |
possibly damaging |
Het |
| Pld5 |
A |
G |
1: 175,803,087 (GRCm39) |
F393L |
probably benign |
Het |
| Plekhg1 |
C |
A |
10: 3,907,361 (GRCm39) |
D759E |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,277,888 (GRCm39) |
S403P |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,510,503 (GRCm39) |
F432L |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,664,230 (GRCm39) |
I406T |
probably benign |
Het |
| Ptpn5 |
G |
T |
7: 46,739,623 (GRCm39) |
D185E |
probably benign |
Het |
| Rad50 |
G |
T |
11: 53,578,978 (GRCm39) |
Q527K |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,530,507 (GRCm39) |
F613L |
probably benign |
Het |
| Sec16a |
T |
A |
2: 26,330,057 (GRCm39) |
M653L |
probably benign |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,920 (GRCm39) |
|
probably null |
Het |
| Slc22a3 |
G |
A |
17: 12,725,991 (GRCm39) |
T74I |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,932,057 (GRCm39) |
L272P |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,536 (GRCm39) |
D869G |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 122,859,731 (GRCm39) |
V291E |
probably damaging |
Het |
| Slc6a19 |
C |
A |
13: 73,832,167 (GRCm39) |
A470S |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,894,006 (GRCm39) |
S878P |
probably damaging |
Het |
| Smchd1 |
A |
G |
17: 71,672,089 (GRCm39) |
M1655T |
possibly damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,622 (GRCm39) |
D191G |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,796,351 (GRCm39) |
Y485H |
probably damaging |
Het |
| Trim12c |
T |
A |
7: 103,990,095 (GRCm39) |
|
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,170 (GRCm39) |
T213A |
probably damaging |
Het |
| Upp1 |
T |
A |
11: 9,084,708 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,198 (GRCm39) |
I16L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,814,850 (GRCm39) |
D214E |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,118 (GRCm39) |
Y177N |
probably damaging |
Het |
| Vmn2r99 |
T |
G |
17: 19,582,521 (GRCm39) |
I42S |
possibly damaging |
Het |
| Zeb1 |
A |
T |
18: 5,761,399 (GRCm39) |
K232N |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,875,603 (GRCm39) |
I494T |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,143 (GRCm39) |
D38G |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTGTTACCTGTGCAATGACTTC -3'
(R):5'- TTAAAAGTCCCAGGTGCCAGCCTC -3'
Sequencing Primer
(F):5'- CCATCCGGTTCTTCAAGGAT -3'
(R):5'- GTCACAATCCTAGCTCCCTTGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation