Incidental Mutation 'R9389:Srgap2'
| ID |
710463 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9389 (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 G
at 131283365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 239
(Y239H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
|
| AlphaFold |
Q91Z67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097588
AA Change: Y239H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: Y239H
| 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: Y98H
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: Y98H
| 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: Y239H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: Y239H
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
G |
A |
5: 8,875,614 (GRCm39) |
V596I |
probably benign |
Het |
| Agtpbp1 |
A |
T |
13: 59,613,884 (GRCm39) |
M1019K |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,479,271 (GRCm39) |
V1448A |
probably damaging |
Het |
| Baz1a |
T |
A |
12: 54,963,608 (GRCm39) |
E828D |
probably damaging |
Het |
| Ces1f |
A |
T |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
| Cfap53 |
T |
A |
18: 74,432,414 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,877,983 (GRCm39) |
Y1998C |
probably damaging |
Het |
| Col9a2 |
A |
G |
4: 120,911,948 (GRCm39) |
T675A |
probably benign |
Het |
| Dusp6 |
G |
A |
10: 99,099,839 (GRCm39) |
V96M |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,369,661 (GRCm39) |
M22R |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,775,107 (GRCm39) |
S117P |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,749,566 (GRCm39) |
N416D |
|
Het |
| Gpr162 |
A |
G |
6: 124,838,357 (GRCm39) |
Y98H |
probably damaging |
Het |
| Igfals |
G |
A |
17: 25,100,600 (GRCm39) |
V564I |
probably benign |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,433,637 (GRCm39) |
N50K |
probably benign |
Het |
| Itpr3 |
A |
T |
17: 27,314,899 (GRCm39) |
Y682F |
possibly damaging |
Het |
| Jak3 |
C |
T |
8: 72,136,696 (GRCm39) |
P668S |
probably damaging |
Het |
| Malrd1 |
A |
T |
2: 15,707,967 (GRCm39) |
N932I |
unknown |
Het |
| Mast4 |
C |
A |
13: 103,470,438 (GRCm39) |
R88L |
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,764,161 (GRCm39) |
S381A |
probably benign |
Het |
| Mrm3 |
A |
G |
11: 76,140,856 (GRCm39) |
D288G |
probably damaging |
Het |
| Myg1 |
G |
T |
15: 102,245,372 (GRCm39) |
V198F |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Npy6r |
T |
C |
18: 44,408,759 (GRCm39) |
I60T |
probably damaging |
Het |
| Or12j3 |
T |
C |
7: 139,952,930 (GRCm39) |
T198A |
probably benign |
Het |
| Or13p3 |
A |
T |
4: 118,567,353 (GRCm39) |
M250L |
probably benign |
Het |
| Or4f57 |
G |
T |
2: 111,790,872 (GRCm39) |
P182H |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Or5k14 |
C |
T |
16: 58,692,976 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,540 (GRCm39) |
P285S |
probably damaging |
Het |
| Ovgp1 |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
3: 105,893,841 (GRCm39) |
|
probably benign |
Het |
| Oxtr |
C |
A |
6: 112,466,310 (GRCm39) |
R150L |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,099,125 (GRCm39) |
Y548F |
probably damaging |
Het |
| Pip4k2a |
T |
C |
2: 18,912,890 (GRCm39) |
K73R |
probably damaging |
Het |
| Pla2g4f |
T |
A |
2: 120,132,781 (GRCm39) |
D685V |
probably damaging |
Het |
| Ppp1r35 |
T |
A |
5: 137,777,577 (GRCm39) |
L81Q |
probably damaging |
Het |
| Prss3b |
C |
T |
6: 41,010,079 (GRCm39) |
G85D |
probably benign |
Het |
| Ptprf |
C |
A |
4: 118,093,236 (GRCm39) |
A469S |
probably benign |
Het |
| Ranbp3l |
T |
A |
15: 9,057,304 (GRCm39) |
N322K |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,698,967 (GRCm39) |
Y1155N |
possibly damaging |
Het |
| Rfesd |
T |
C |
13: 76,151,131 (GRCm39) |
Y96C |
probably damaging |
Het |
| Runx1 |
C |
T |
16: 92,410,568 (GRCm39) |
V283I |
possibly damaging |
Het |
| Sema5b |
A |
C |
16: 35,466,092 (GRCm39) |
Q125P |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,275,158 (GRCm39) |
D403G |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,725,307 (GRCm39) |
M150K |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,141,455 (GRCm39) |
L1745W |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,090,811 (GRCm39) |
H1304Q |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,179,193 (GRCm39) |
D4427G |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,561,173 (GRCm39) |
M1065K |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,959,816 (GRCm39) |
T656A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,153,235 (GRCm39) |
K809E |
|
Het |
| Vmn1r88 |
T |
C |
7: 12,912,546 (GRCm39) |
S301P |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,111,980 (GRCm39) |
V671A |
possibly damaging |
Het |
| Zbtb17 |
G |
A |
4: 141,193,131 (GRCm39) |
V550I |
possibly damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,920 (GRCm39) |
I379N |
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 |
|
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 |
|
|
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'- GGAACACGTGACCATGTTTC -3'
(R):5'- GCCTTCATCTCTCCCAGAACAG -3'
Sequencing Primer
(F):5'- CGTGACCATGTTTCTGAAACTAGGC -3'
(R):5'- TGACAGGTCATCAAGATGGCTCATC -3'
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| Posted On |
2022-04-18 |
Incidental Mutation