Incidental Mutation 'R6770:Srgap2'
| ID |
532107 |
| 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 |
044886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131226248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 22
(C22S)
|
| 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: C728S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: C728S
| 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: C587S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: C587S
| 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: C728S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: C728S
| 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: C22S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000140927
Gene: ENSMUSG00000026425
AA Change: C22S
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
25 |
80 |
2.8e-17 |
SMART |
|
low complexity region
|
146 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000188770
AA Change: C342S
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adk |
A |
G |
14: 21,284,982 (GRCm39) |
K102E |
probably damaging |
Het |
| Bach2 |
G |
A |
4: 32,575,240 (GRCm39) |
V489I |
possibly damaging |
Het |
| Bin1 |
A |
G |
18: 32,539,202 (GRCm39) |
E45G |
probably damaging |
Het |
| Btnl4 |
A |
G |
17: 34,693,011 (GRCm39) |
Y135H |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,066,392 (GRCm39) |
|
probably null |
Het |
| Cdh10 |
A |
G |
15: 18,985,308 (GRCm39) |
D324G |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,652,379 (GRCm39) |
S269P |
probably benign |
Het |
| Ctbp1 |
G |
A |
5: 33,408,204 (GRCm39) |
Q243* |
probably null |
Het |
| Dnajc1 |
G |
T |
2: 18,222,082 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo39 |
T |
G |
11: 72,208,622 (GRCm39) |
S325A |
possibly damaging |
Het |
| Gbe1 |
T |
C |
16: 70,198,726 (GRCm39) |
S140P |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,111,153 (GRCm39) |
L38Q |
possibly damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,967 (GRCm39) |
S551G |
possibly damaging |
Het |
| Ina |
C |
T |
19: 47,003,366 (GRCm39) |
|
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,643,475 (GRCm39) |
V103A |
possibly damaging |
Het |
| Ldb2 |
T |
A |
5: 44,826,738 (GRCm39) |
T66S |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,327,648 (GRCm39) |
A1499V |
probably benign |
Het |
| Nde1 |
G |
A |
16: 14,006,242 (GRCm39) |
V96I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,370,969 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
G |
T |
17: 90,344,607 (GRCm39) |
N435K |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,934,862 (GRCm39) |
D5256G |
possibly damaging |
Het |
| Or1e25 |
A |
G |
11: 73,493,804 (GRCm39) |
T133A |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,448,206 (GRCm39) |
V110A |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,725 (GRCm39) |
I272N |
probably damaging |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,479 (GRCm39) |
F153L |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,744,837 (GRCm39) |
M865K |
probably benign |
Het |
| Otud1 |
A |
G |
2: 19,663,993 (GRCm39) |
E374G |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,764,568 (GRCm39) |
L542H |
probably damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,187,536 (GRCm39) |
T101A |
probably benign |
Het |
| Ppic |
A |
T |
18: 53,544,657 (GRCm39) |
V51E |
probably benign |
Het |
| Ptpn14 |
G |
A |
1: 189,564,970 (GRCm39) |
V186M |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,753,348 (GRCm39) |
T1658S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,559,528 (GRCm39) |
|
probably null |
Het |
| Siva1 |
G |
A |
12: 112,614,358 (GRCm39) |
C73Y |
probably damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,685,226 (GRCm39) |
|
probably null |
Het |
| Sltm |
A |
G |
9: 70,492,059 (GRCm39) |
I683V |
unknown |
Het |
| Stxbp1 |
C |
T |
2: 32,709,901 (GRCm39) |
R64H |
probably benign |
Het |
| Suv39h2 |
T |
C |
2: 3,473,588 (GRCm39) |
N114S |
possibly damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,345 (GRCm39) |
I261V |
probably benign |
Het |
| Trav14-2 |
A |
C |
14: 53,878,629 (GRCm39) |
H76P |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,434,006 (GRCm39) |
S2316P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,216,493 (GRCm39) |
I5141T |
unknown |
Het |
| Usp46 |
A |
G |
5: 74,193,015 (GRCm39) |
V87A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,508,445 (GRCm39) |
N612S |
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 |
|
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 |
|
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'- CTTACGTGTCTTGGACTACGATG -3'
(R):5'- TTATCAGGGAAAGCAGTGTCCC -3'
Sequencing Primer
(F):5'- ACGTGTCTTGGACTACGATGTACTG -3'
(R):5'- AAAGCAGTGTCCCTGTGTGTTAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation