Incidental Mutation 'IGL02028:Srgap2'
ID |
184281 |
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 # |
IGL02028
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 131224173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 92
(K92E)
|
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: K798E
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000095195 Gene: ENSMUSG00000026425 AA Change: K798E
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
|
SMART Domains |
Protein: ENSMUSP00000141140 Gene: ENSMUSG00000026425
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: K798E
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139405 Gene: ENSMUSG00000026425 AA Change: K798E
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 damaging
Transcript: ENSMUST00000187042
AA Change: K92E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140927 Gene: ENSMUSG00000026425 AA Change: K92E
Domain | Start | End | E-Value | Type |
SH3
|
25 |
80 |
2.8e-17 |
SMART |
low complexity region
|
146 |
162 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188604
|
Predicted Effect |
unknown
Transcript: ENSMUST00000188770
AA Change: K412E
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189892
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190336
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
A |
G |
1: 60,473,442 (GRCm39) |
Y53C |
probably damaging |
Het |
Acacb |
T |
A |
5: 114,304,076 (GRCm39) |
D166E |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,495 (GRCm39) |
|
probably null |
Het |
Arl6ip5 |
A |
G |
6: 97,206,611 (GRCm39) |
Y97C |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,024,936 (GRCm39) |
S1772R |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,062,645 (GRCm39) |
Q155R |
probably damaging |
Het |
Ccdc33 |
T |
C |
9: 57,983,861 (GRCm39) |
N446S |
probably benign |
Het |
Cdh2 |
T |
C |
18: 16,783,477 (GRCm39) |
D84G |
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,836,387 (GRCm39) |
K918E |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,750,122 (GRCm39) |
D521G |
probably damaging |
Het |
Dync2i1 |
C |
A |
12: 116,219,681 (GRCm39) |
R87L |
probably benign |
Het |
Etv6 |
C |
T |
6: 134,225,696 (GRCm39) |
A309V |
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
Figla |
T |
C |
6: 85,994,345 (GRCm39) |
L40P |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,790,939 (GRCm39) |
Q301L |
probably damaging |
Het |
Glt1d1 |
G |
A |
5: 127,783,984 (GRCm39) |
V313M |
possibly damaging |
Het |
Gm28778 |
T |
A |
1: 53,357,120 (GRCm39) |
I94K |
possibly damaging |
Het |
Gm4847 |
T |
C |
1: 166,469,765 (GRCm39) |
K103E |
probably benign |
Het |
Gne |
A |
G |
4: 44,066,852 (GRCm39) |
S23P |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,795,691 (GRCm39) |
C186R |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,464 (GRCm39) |
V283I |
probably damaging |
Het |
Mcm10 |
A |
T |
2: 5,013,511 (GRCm39) |
D40E |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,356,387 (GRCm39) |
I462F |
possibly damaging |
Het |
Myh1 |
T |
A |
11: 67,101,441 (GRCm39) |
I711N |
probably damaging |
Het |
Oit3 |
A |
G |
10: 59,274,477 (GRCm39) |
F108L |
probably damaging |
Het |
Or4f4b |
T |
C |
2: 111,313,816 (GRCm39) |
F14L |
probably benign |
Het |
Or8b49 |
T |
A |
9: 38,505,715 (GRCm39) |
L66* |
probably null |
Het |
Polr1g |
T |
C |
7: 19,091,003 (GRCm39) |
K368R |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,258,301 (GRCm39) |
D172G |
probably damaging |
Het |
Ribc2 |
A |
G |
15: 85,027,536 (GRCm39) |
D339G |
possibly damaging |
Het |
Rras2 |
C |
A |
7: 113,659,597 (GRCm39) |
V56L |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,594,002 (GRCm39) |
E1617G |
probably damaging |
Het |
Slc13a1 |
T |
A |
6: 24,118,030 (GRCm39) |
M236L |
probably benign |
Het |
Snrnp27 |
C |
T |
6: 86,659,955 (GRCm39) |
R13H |
unknown |
Het |
Suco |
T |
C |
1: 161,684,428 (GRCm39) |
K231E |
possibly damaging |
Het |
Tll2 |
C |
A |
19: 41,087,088 (GRCm39) |
E588* |
probably null |
Het |
Tmem215 |
A |
T |
4: 40,473,940 (GRCm39) |
I6L |
possibly damaging |
Het |
Tnc |
A |
C |
4: 63,884,909 (GRCm39) |
|
probably benign |
Het |
Tob1 |
G |
A |
11: 94,105,052 (GRCm39) |
G196D |
probably benign |
Het |
Ubtfl1 |
T |
A |
9: 18,320,849 (GRCm39) |
Y126N |
possibly damaging |
Het |
Uck1 |
G |
T |
2: 32,148,149 (GRCm39) |
Q192K |
probably damaging |
Het |
Vdac3-ps1 |
A |
G |
13: 18,205,469 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r88 |
C |
T |
7: 12,911,719 (GRCm39) |
S25L |
probably benign |
Het |
Vmn2r109 |
T |
G |
17: 20,761,342 (GRCm39) |
I672L |
probably benign |
Het |
Vmn2r23 |
T |
C |
6: 123,718,819 (GRCm39) |
F724S |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,088 (GRCm39) |
F282Y |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,215,057 (GRCm39) |
I347F |
probably benign |
Het |
Wasf2 |
G |
A |
4: 132,923,112 (GRCm39) |
R474H |
probably damaging |
Het |
Zmym5 |
T |
C |
14: 57,041,617 (GRCm39) |
H162R |
possibly 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 |
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 |