Incidental Mutation 'R9599:Srgap2'
| ID |
723429 |
| 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 # |
R9599 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131272164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 41
(S41P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
|
| AlphaFold |
Q91Z67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097588
AA Change: S427P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: S427P
| 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: S286P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: S286P
| 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 |
possibly damaging
Transcript: ENSMUST00000186543
AA Change: S427P
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: S427P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,774,267 (GRCm39) |
N1152S |
probably benign |
Het |
| Abcb6 |
A |
T |
1: 75,151,372 (GRCm39) |
Y518N |
possibly damaging |
Het |
| Actr2 |
G |
A |
11: 20,030,745 (GRCm39) |
P168S |
probably damaging |
Het |
| Adam12 |
A |
G |
7: 133,566,454 (GRCm39) |
V332A |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,620,359 (GRCm39) |
I805T |
probably benign |
Het |
| Adar |
A |
G |
3: 89,654,516 (GRCm39) |
T883A |
probably benign |
Het |
| Aldh3a1 |
A |
G |
11: 61,107,912 (GRCm39) |
T319A |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,083,269 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
C |
A |
8: 3,482,718 (GRCm39) |
A141E |
possibly damaging |
Het |
| Bub3 |
A |
G |
7: 131,170,428 (GRCm39) |
T317A |
probably benign |
Het |
| Ccdc102a |
A |
G |
8: 95,639,901 (GRCm39) |
L131P |
probably damaging |
Het |
| Ccdc60 |
C |
A |
5: 116,269,265 (GRCm39) |
D452Y |
probably damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,219,381 (GRCm39) |
E125G |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,093,492 (GRCm39) |
E233G |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 67,968,525 (GRCm39) |
D973G |
probably benign |
Het |
| Cox5b |
T |
A |
1: 36,730,759 (GRCm39) |
M31K |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,783,386 (GRCm39) |
N780S |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,563,277 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
C |
T |
9: 57,607,770 (GRCm39) |
P133S |
probably benign |
Het |
| Dcp1a |
A |
G |
14: 30,241,497 (GRCm39) |
M436V |
probably benign |
Het |
| Dcst1 |
G |
T |
3: 89,265,075 (GRCm39) |
Y258* |
probably null |
Het |
| Dhx30 |
T |
C |
9: 109,914,518 (GRCm39) |
E993G |
possibly damaging |
Het |
| Disc1 |
A |
T |
8: 125,814,261 (GRCm39) |
M42L |
possibly damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Entrep3 |
A |
G |
3: 89,094,099 (GRCm39) |
D304G |
possibly damaging |
Het |
| Erbb2 |
A |
T |
11: 98,318,216 (GRCm39) |
D484V |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,469 (GRCm39) |
N657D |
probably benign |
Het |
| Gbx2 |
T |
C |
1: 89,856,635 (GRCm39) |
T252A |
probably damaging |
Het |
| Gdap2 |
A |
T |
3: 100,078,264 (GRCm39) |
N76I |
probably damaging |
Het |
| Gm20939 |
A |
G |
17: 95,184,666 (GRCm39) |
Y438C |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,459 (GRCm39) |
E126G |
possibly damaging |
Het |
| Gsg1 |
T |
G |
6: 135,217,098 (GRCm39) |
H246P |
probably damaging |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Ighv1-62-1 |
T |
C |
12: 115,350,601 (GRCm39) |
Q22R |
possibly damaging |
Het |
| Kcng3 |
A |
T |
17: 83,895,211 (GRCm39) |
F418L |
probably benign |
Het |
| Lin54 |
C |
A |
5: 100,598,546 (GRCm39) |
R593L |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,410,246 (GRCm39) |
N1500I |
probably damaging |
Het |
| Lvrn |
A |
C |
18: 46,999,494 (GRCm39) |
S287R |
probably benign |
Het |
| Mab21l4 |
T |
C |
1: 93,087,568 (GRCm39) |
E95G |
possibly damaging |
Het |
| Madd |
G |
A |
2: 91,006,026 (GRCm39) |
P390S |
probably damaging |
Het |
| Mapk8ip3 |
C |
A |
17: 25,118,124 (GRCm39) |
R1281L |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,271,698 (GRCm39) |
T618S |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,248,445 (GRCm39) |
T116A |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrpl39 |
A |
G |
16: 84,527,359 (GRCm39) |
F176S |
probably damaging |
Het |
| Myt1l |
T |
C |
12: 29,943,441 (GRCm39) |
I953T |
unknown |
Het |
| Nedd4l |
A |
G |
18: 65,343,400 (GRCm39) |
H820R |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,664,855 (GRCm39) |
V455D |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,243,747 (GRCm39) |
F105S |
probably damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,773,851 (GRCm39) |
R271Q |
probably benign |
Het |
| Patz1 |
A |
G |
11: 3,240,720 (GRCm39) |
N36S |
probably benign |
Het |
| Peg3 |
T |
A |
7: 6,714,723 (GRCm39) |
K166N |
probably damaging |
Het |
| Pes1 |
T |
A |
11: 3,926,118 (GRCm39) |
D302E |
probably benign |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Plekhh3 |
G |
A |
11: 101,054,972 (GRCm39) |
T627M |
unknown |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Rnf20 |
T |
C |
4: 49,638,751 (GRCm39) |
V191A |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,911,172 (GRCm39) |
K864M |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,919,452 (GRCm39) |
|
probably null |
Het |
| Slc24a4 |
C |
T |
12: 102,097,779 (GRCm39) |
T30I |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,420,904 (GRCm39) |
D465G |
probably damaging |
Het |
| Snrnp48 |
T |
C |
13: 38,393,920 (GRCm39) |
M75T |
probably benign |
Het |
| St3gal5 |
A |
G |
6: 72,130,580 (GRCm39) |
T391A |
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,843,297 (GRCm39) |
L628P |
possibly damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,502,701 (GRCm39) |
M1074K |
probably benign |
Het |
| Tent2 |
G |
T |
13: 93,322,821 (GRCm39) |
Q43K |
probably benign |
Het |
| Tpsb2 |
T |
A |
17: 25,586,077 (GRCm39) |
Y98* |
probably null |
Het |
| Trav6d-3 |
G |
A |
14: 52,964,144 (GRCm39) |
D36N |
probably benign |
Het |
| Trim16 |
A |
G |
11: 62,731,644 (GRCm39) |
Y505C |
probably damaging |
Het |
| Ttpal |
A |
G |
2: 163,457,458 (GRCm39) |
D310G |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,441,835 (GRCm39) |
I284T |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,478,457 (GRCm39) |
|
probably null |
Het |
| Vmn2r67 |
T |
C |
7: 84,804,941 (GRCm39) |
D57G |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,855,428 (GRCm39) |
T729A |
|
Het |
| Wdr81 |
A |
T |
11: 75,344,349 (GRCm39) |
M306K |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,106,542 (GRCm39) |
D211G |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,636,763 (GRCm39) |
K1316E |
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 |
|
|
R9389:Srgap2
|
UTSW |
1 |
131,283,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- TGGTGTCCAAGTATGCCAGG -3'
(R):5'- TGCTCTATCACCTGCCATTTTAAAG -3'
Sequencing Primer
(F):5'- ATGCCAGGCTCAAATCTTGTG -3'
(R):5'- AAGCCTGCTTCTCATGATTATTTTGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation