Incidental Mutation 'IGL01933:Srgap2'
| ID |
180526 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srgap2
|
| Ensembl Gene |
ENSMUSG00000026425 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 2 |
| Synonyms |
Fnbp2, 9930124L22Rik, FBP2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131339593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 123
(N123S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185445]
[ENSMUST00000186543]
|
| AlphaFold |
Q91Z67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097588
AA Change: N123S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: N123S
| 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: ENSMUST00000185445
AA Change: N92S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140787
Gene: ENSMUSG00000026425
AA Change: N92S
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
4 |
89 |
6.3e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186543
AA Change: N123S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: N123S
| 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: ENSMUST00000189893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191427
|
| Coding Region Coverage |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,164,650 (GRCm39) |
V575F |
possibly damaging |
Het |
| Abca2 |
T |
A |
2: 25,334,123 (GRCm39) |
V1800E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,322,251 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
C |
A |
8: 44,104,569 (GRCm39) |
G359W |
probably damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,254,493 (GRCm39) |
T372I |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,147,574 (GRCm39) |
D847G |
probably damaging |
Het |
| Arap3 |
T |
A |
18: 38,111,506 (GRCm39) |
T1137S |
possibly damaging |
Het |
| Atp10b |
A |
C |
11: 43,085,457 (GRCm39) |
T279P |
probably damaging |
Het |
| Bmp2 |
T |
A |
2: 133,396,578 (GRCm39) |
M78K |
possibly damaging |
Het |
| Ccdc61 |
T |
G |
7: 18,626,483 (GRCm39) |
M369L |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,933,304 (GRCm39) |
I758N |
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,468,047 (GRCm39) |
*526W |
probably null |
Het |
| Cgnl1 |
C |
T |
9: 71,552,765 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,315,104 (GRCm39) |
Y173H |
probably damaging |
Het |
| Cntn4 |
G |
A |
6: 106,671,345 (GRCm39) |
S976N |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,937,313 (GRCm39) |
T1401I |
probably benign |
Het |
| D5Ertd579e |
T |
C |
5: 36,773,100 (GRCm39) |
T432A |
probably benign |
Het |
| Dixdc1 |
G |
A |
9: 50,614,558 (GRCm39) |
R163* |
probably null |
Het |
| Dmxl1 |
C |
A |
18: 50,010,852 (GRCm39) |
T1003K |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 31,032,872 (GRCm39) |
R388W |
probably benign |
Het |
| Eci3 |
C |
T |
13: 35,132,772 (GRCm39) |
A202T |
probably damaging |
Het |
| Egr2 |
T |
C |
10: 67,376,024 (GRCm39) |
S220P |
probably damaging |
Het |
| Fntb |
C |
T |
12: 76,966,880 (GRCm39) |
P405S |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm26602 |
C |
A |
10: 79,746,955 (GRCm39) |
R236L |
probably benign |
Het |
| Hao2 |
T |
C |
3: 98,787,648 (GRCm39) |
|
probably benign |
Het |
| Irgm2 |
A |
T |
11: 58,110,783 (GRCm39) |
N170I |
possibly damaging |
Het |
| Klhl20 |
G |
A |
1: 160,934,357 (GRCm39) |
R221W |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,939 (GRCm39) |
|
probably null |
Het |
| Lrrc46 |
C |
T |
11: 96,926,354 (GRCm39) |
E181K |
probably benign |
Het |
| Lztr1 |
T |
A |
16: 17,338,455 (GRCm39) |
V226E |
probably damaging |
Het |
| Myh9 |
G |
T |
15: 77,665,418 (GRCm39) |
D684E |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,732,349 (GRCm39) |
T713A |
probably damaging |
Het |
| Nrap |
G |
T |
19: 56,377,250 (GRCm39) |
N62K |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,699,021 (GRCm39) |
Y180C |
probably damaging |
Het |
| Or5an1 |
A |
T |
19: 12,261,069 (GRCm39) |
Y219F |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,662,016 (GRCm39) |
D708G |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,488,393 (GRCm39) |
P1717L |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,683,789 (GRCm39) |
D1095G |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,197,576 (GRCm39) |
H771R |
probably benign |
Het |
| R3hcc1l |
G |
A |
19: 42,551,389 (GRCm39) |
A129T |
probably damaging |
Het |
| Rbm15 |
G |
A |
3: 107,238,419 (GRCm39) |
R660W |
probably damaging |
Het |
| Recql |
C |
T |
6: 142,310,364 (GRCm39) |
V489M |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,626,897 (GRCm39) |
S162R |
probably damaging |
Het |
| Sec11a |
T |
C |
7: 80,584,810 (GRCm39) |
I42M |
probably benign |
Het |
| Slc25a23 |
G |
A |
17: 57,359,813 (GRCm39) |
Q61* |
probably null |
Het |
| Son |
A |
T |
16: 91,454,903 (GRCm39) |
M1217L |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,088,441 (GRCm39) |
|
probably benign |
Het |
| St13 |
T |
C |
15: 81,273,899 (GRCm39) |
|
probably null |
Het |
| St3gal3 |
A |
T |
4: 117,889,072 (GRCm39) |
D57E |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,940,505 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,894 (GRCm39) |
T107A |
possibly damaging |
Het |
| Tmem135 |
G |
T |
7: 88,793,065 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,283,467 (GRCm39) |
M696T |
probably benign |
Het |
| Trbv28 |
T |
A |
6: 41,248,761 (GRCm39) |
L97Q |
probably damaging |
Het |
| Trpc4ap |
A |
T |
2: 155,481,455 (GRCm39) |
F534I |
possibly damaging |
Het |
| Trpm8 |
T |
C |
1: 88,254,127 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,871 (GRCm39) |
T239A |
probably benign |
Het |
| Zmym5 |
T |
G |
14: 57,041,617 (GRCm39) |
H162P |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation