Incidental Mutation 'R2393:Srgap2'
| ID |
247842 |
| 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 |
040361-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131259872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 493
(S493P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
|
| AlphaFold |
Q91Z67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097588
AA Change: S493P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: S493P
| 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
AA Change: S352P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: S352P
| 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: S493P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: S493P
| 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: ENSMUST00000188437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188770
AA Change: S107P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190336
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,225,057 (GRCm39) |
L512* |
probably null |
Het |
| Adam4 |
A |
T |
12: 81,467,485 (GRCm39) |
F379I |
probably benign |
Het |
| Ano6 |
C |
G |
15: 95,863,906 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,535 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Arl8a |
T |
A |
1: 135,080,604 (GRCm39) |
V93E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,630 (GRCm39) |
I95N |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,928,436 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,397,100 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,157,631 (GRCm39) |
D171E |
possibly damaging |
Het |
| Chrna7 |
G |
A |
7: 62,748,994 (GRCm39) |
A496V |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Colgalt1 |
C |
G |
8: 72,076,385 (GRCm39) |
T612S |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,787,893 (GRCm39) |
K602E |
probably benign |
Het |
| Crtc1 |
T |
A |
8: 70,840,808 (GRCm39) |
T473S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,625,290 (GRCm39) |
|
probably null |
Het |
| Edem1 |
T |
G |
6: 108,829,504 (GRCm39) |
M541R |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,696,229 (GRCm39) |
V953G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,828,968 (GRCm39) |
|
probably null |
Het |
| Focad |
A |
G |
4: 88,039,567 (GRCm39) |
D10G |
probably damaging |
Het |
| Gfus |
G |
T |
15: 75,798,200 (GRCm39) |
L191I |
probably damaging |
Het |
| Gm5901 |
G |
T |
7: 105,026,996 (GRCm39) |
V255F |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,659,840 (GRCm39) |
N416S |
probably damaging |
Het |
| Hspb1 |
T |
C |
5: 135,917,950 (GRCm39) |
F142L |
probably benign |
Het |
| Il17re |
C |
T |
6: 113,439,314 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,568 (GRCm39) |
I389T |
probably damaging |
Het |
| Lhx6 |
T |
C |
2: 35,981,402 (GRCm39) |
D63G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,327 (GRCm39) |
T156A |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,534,197 (GRCm39) |
Y680C |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,365 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Mst1 |
T |
G |
9: 107,960,151 (GRCm39) |
|
probably null |
Het |
| Myh13 |
T |
A |
11: 67,231,184 (GRCm39) |
S394T |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,290,529 (GRCm39) |
V1042E |
probably damaging |
Het |
| Ndrg4 |
T |
A |
8: 96,432,839 (GRCm39) |
Y15* |
probably null |
Het |
| Neurl4 |
G |
A |
11: 69,797,900 (GRCm39) |
R720H |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,455 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,389,055 (GRCm39) |
M202K |
probably benign |
Het |
| Or10d4 |
G |
T |
9: 39,580,569 (GRCm39) |
C72F |
possibly damaging |
Het |
| Or2av9 |
T |
A |
11: 58,381,546 (GRCm39) |
I12F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,581,036 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,480,368 (GRCm39) |
T715A |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,935 (GRCm39) |
L858P |
probably benign |
Het |
| Pla2g3 |
A |
C |
11: 3,443,115 (GRCm39) |
S483R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,798 (GRCm39) |
D573E |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,912,352 (GRCm39) |
|
probably benign |
Het |
| Rpl39l |
A |
T |
16: 9,992,328 (GRCm39) |
*52L |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,194,501 (GRCm39) |
R381W |
possibly damaging |
Het |
| Spns3 |
T |
A |
11: 72,441,059 (GRCm39) |
|
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,892,836 (GRCm39) |
S293P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,583,211 (GRCm39) |
V20815M |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,847,132 (GRCm39) |
I167V |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,340,231 (GRCm39) |
A1296T |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,158,180 (GRCm39) |
Y573C |
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 |
|
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'- AAAACTTGGAATTGGTGGTTGC -3'
(R):5'- CAGGGACCTCTATGCTTTTATGG -3'
Sequencing Primer
(F):5'- GGTTGCCACAATCTTAACTATACTG -3'
(R):5'- GTTGGGAAATAACTTGGCAAGTCTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation