Incidental Mutation 'R0441:Srgap2'
| ID |
39133 |
| 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 |
038642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0441 (G1)
|
| Quality Score |
169 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 131264175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 465
(T465I)
|
| 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: T465I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: T465I
| 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: T324I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: T324I
| 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: T465I
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: T465I
| 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: ENSMUST00000188437
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188770
AA Change: T79I
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194760
|
| Meta Mutation Damage Score |
0.0737 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
100% (71/71) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,689 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,545,345 (GRCm39) |
R5647* |
probably null |
Het |
| Agbl2 |
C |
T |
2: 90,627,827 (GRCm39) |
R211* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,011,714 (GRCm39) |
K806E |
probably benign |
Het |
| Ampd1 |
C |
G |
3: 102,995,794 (GRCm39) |
L235V |
probably benign |
Het |
| Atcay |
T |
C |
10: 81,060,294 (GRCm39) |
D14G |
possibly damaging |
Het |
| Atp8b4 |
C |
T |
2: 126,220,626 (GRCm39) |
|
probably benign |
Het |
| Bmp8b |
T |
C |
4: 123,018,308 (GRCm39) |
V393A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,322 (GRCm39) |
D1695E |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,587,705 (GRCm39) |
I210V |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,813,924 (GRCm39) |
L564P |
possibly damaging |
Het |
| Cmpk1 |
T |
C |
4: 114,822,220 (GRCm39) |
T110A |
probably benign |
Het |
| Cpsf3 |
T |
G |
12: 21,350,085 (GRCm39) |
I268S |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,414,023 (GRCm39) |
A2621V |
probably benign |
Het |
| Cyp2c40 |
T |
C |
19: 39,795,607 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 103,998,292 (GRCm39) |
Y1837F |
probably damaging |
Het |
| Degs2 |
A |
G |
12: 108,668,469 (GRCm39) |
F10S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,717,933 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
G |
C |
15: 78,557,795 (GRCm39) |
P251A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,066,486 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,574,811 (GRCm39) |
D1022G |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,856,304 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,151,675 (GRCm39) |
|
probably null |
Het |
| Gm15217 |
T |
C |
14: 46,620,676 (GRCm39) |
|
probably null |
Het |
| Gm17611 |
A |
T |
13: 50,130,435 (GRCm39) |
|
noncoding transcript |
Het |
| Gpld1 |
G |
A |
13: 25,146,303 (GRCm39) |
W182* |
probably null |
Het |
| Gsc |
T |
C |
12: 104,439,353 (GRCm39) |
I8V |
probably damaging |
Het |
| Hck |
A |
G |
2: 152,976,052 (GRCm39) |
K197R |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,720,301 (GRCm39) |
L1551P |
probably damaging |
Het |
| Lrch1 |
C |
T |
14: 75,184,985 (GRCm39) |
G39D |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,259,148 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,888,331 (GRCm39) |
V248E |
probably damaging |
Het |
| Mrps15 |
C |
A |
4: 125,945,210 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ndufa5 |
T |
C |
6: 24,522,750 (GRCm39) |
T31A |
probably benign |
Het |
| Nfyb |
A |
G |
10: 82,586,594 (GRCm39) |
V190A |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,819,409 (GRCm39) |
I40M |
probably benign |
Het |
| Or2f2 |
T |
C |
6: 42,767,108 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,671,859 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,674 (GRCm39) |
I126K |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,955,301 (GRCm39) |
S564P |
probably damaging |
Het |
| Pak5 |
C |
T |
2: 135,958,549 (GRCm39) |
A180T |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,590,628 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,632,344 (GRCm39) |
N1431I |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,955,319 (GRCm39) |
I429L |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,368,664 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
T |
10: 80,064,859 (GRCm39) |
N30Y |
probably damaging |
Het |
| Rad54b |
A |
T |
4: 11,563,394 (GRCm39) |
T18S |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,321,590 (GRCm39) |
E2629G |
probably benign |
Het |
| Rec114 |
G |
A |
9: 58,565,053 (GRCm39) |
T201I |
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,423,917 (GRCm39) |
E522G |
probably damaging |
Het |
| Sgsm3 |
G |
A |
15: 80,893,971 (GRCm39) |
R502H |
possibly damaging |
Het |
| Sh3pxd2b |
C |
A |
11: 32,373,023 (GRCm39) |
A730D |
possibly damaging |
Het |
| Spag4 |
A |
G |
2: 155,909,899 (GRCm39) |
D187G |
probably damaging |
Het |
| St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
| St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
| Tecpr1 |
C |
A |
5: 144,132,759 (GRCm39) |
R1159L |
probably benign |
Het |
| Tmem63b |
A |
T |
17: 45,977,241 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
T |
A |
6: 148,317,256 (GRCm39) |
D78V |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,029,722 (GRCm39) |
N68D |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,770,269 (GRCm39) |
A2641S |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,241,032 (GRCm39) |
K19E |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,564,038 (GRCm39) |
E1274V |
probably null |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,630 (GRCm39) |
I732F |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,758,778 (GRCm39) |
M792K |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,816,126 (GRCm39) |
I608T |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAAGCAGCCACTGAATAGTC -3'
(R):5'- CAACACTGATGCTCAGGAAGGTCG -3'
Sequencing Primer
(F):5'- CAGCCACTGAATAGTCTAGGAAG -3'
(R):5'- gggagggagggggagag -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation