Incidental Mutation 'R9006:Srgap2'
| ID |
685267 |
| 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 |
068836-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131283307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 258
(E258G)
|
| 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: E258G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: E258G
| 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 |
possibly damaging
Transcript: ENSMUST00000185596
AA Change: E117G
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: E117G
| 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: E258G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: E258G
| 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 |
|
| Meta Mutation Damage Score |
0.0909 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (72/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,665,820 (GRCm39) |
N267D |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,723,996 (GRCm39) |
M803K |
possibly damaging |
Het |
| Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 96,967,104 (GRCm39) |
F528L |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,659 (GRCm39) |
Y624H |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,164,345 (GRCm39) |
F1182L |
possibly damaging |
Het |
| Cfap73 |
G |
A |
5: 120,767,760 (GRCm39) |
Q264* |
probably null |
Het |
| Clca3a2 |
C |
A |
3: 144,783,789 (GRCm39) |
A609S |
probably damaging |
Het |
| Cntfr |
A |
T |
4: 41,661,971 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
C |
T |
19: 39,070,714 (GRCm39) |
T299I |
probably damaging |
Het |
| Cyp2j5 |
G |
T |
4: 96,552,149 (GRCm39) |
N33K |
probably benign |
Het |
| Dhcr7 |
T |
A |
7: 143,394,978 (GRCm39) |
S165T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,820,783 (GRCm39) |
D539V |
probably benign |
Het |
| Ebag9 |
A |
T |
15: 44,503,703 (GRCm39) |
Q176L |
probably benign |
Het |
| Fbxw20 |
T |
A |
9: 109,062,530 (GRCm39) |
|
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,112 (GRCm39) |
K143E |
possibly damaging |
Het |
| Gcc2 |
C |
T |
10: 58,103,801 (GRCm39) |
R76C |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,719,566 (GRCm39) |
T354A |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,458,262 (GRCm39) |
M271V |
probably benign |
Het |
| Iah1 |
G |
A |
12: 21,367,402 (GRCm39) |
G36D |
probably damaging |
Het |
| Ism2 |
G |
T |
12: 87,326,969 (GRCm39) |
D323E |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,612,086 (GRCm39) |
I184V |
probably damaging |
Het |
| Kdm4d |
C |
A |
9: 14,374,833 (GRCm39) |
V342L |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,551,900 (GRCm39) |
F62L |
probably benign |
Het |
| Lmo7 |
TCGGATTCTGTGGC |
TC |
14: 102,155,072 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
A |
11: 58,277,586 (GRCm39) |
S123T |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,981,323 (GRCm39) |
N432K |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,343 (GRCm39) |
V195A |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,396,360 (GRCm39) |
I106F |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,136,140 (GRCm39) |
T88A |
unknown |
Het |
| Naa35 |
A |
G |
13: 59,748,842 (GRCm39) |
D158G |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,824,291 (GRCm39) |
E137G |
possibly damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,316 (GRCm39) |
S232P |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,294,516 (GRCm39) |
N32K |
probably benign |
Het |
| Odam |
A |
T |
5: 88,040,298 (GRCm39) |
I255L |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,545 (GRCm39) |
Y123* |
probably null |
Het |
| Or1ad8 |
A |
T |
11: 50,897,975 (GRCm39) |
M59L |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,036 (GRCm39) |
H176L |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,723 (GRCm39) |
V225A |
possibly damaging |
Het |
| Or2w3b |
G |
A |
11: 58,623,188 (GRCm39) |
Q268* |
probably null |
Het |
| Or4b1 |
T |
G |
2: 89,980,327 (GRCm39) |
T8P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,613,996 (GRCm39) |
D485G |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,467,697 (GRCm39) |
N92K |
probably benign |
Het |
| Rpgrip1l |
T |
A |
8: 92,007,436 (GRCm39) |
M385L |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 141,923,321 (GRCm39) |
N314I |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,514,394 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
A |
C |
4: 150,722,731 (GRCm39) |
C384W |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,773 (GRCm39) |
V227M |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,258,858 (GRCm39) |
S1132R |
possibly damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,401,589 (GRCm39) |
H246Y |
possibly damaging |
Het |
| Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,047,537 (GRCm39) |
I1727K |
probably damaging |
Het |
| Taco1 |
A |
T |
11: 105,956,931 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,909,301 (GRCm39) |
M648K |
possibly damaging |
Het |
| Taf7 |
A |
G |
18: 37,775,757 (GRCm39) |
V270A |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,707 (GRCm39) |
T483I |
unknown |
Het |
| Tesc |
A |
G |
5: 118,184,378 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,595,427 (GRCm39) |
N532S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem196 |
T |
A |
12: 119,978,510 (GRCm39) |
C84S |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,182,499 (GRCm39) |
|
probably benign |
Het |
| Ttc16 |
A |
G |
2: 32,652,985 (GRCm39) |
S615P |
probably benign |
Het |
| Ttc21a |
T |
A |
9: 119,792,130 (GRCm39) |
|
probably benign |
Het |
| Tuba3b |
T |
C |
6: 145,565,564 (GRCm39) |
V344A |
possibly damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,015,251 (GRCm39) |
F320L |
probably benign |
Het |
| Tusc3 |
T |
A |
8: 39,538,627 (GRCm39) |
L222* |
probably null |
Het |
| Ubr4 |
G |
A |
4: 139,172,003 (GRCm39) |
|
probably null |
Het |
| Uncx |
G |
T |
5: 139,532,936 (GRCm39) |
V334L |
possibly damaging |
Het |
| Vezf1 |
C |
A |
11: 87,965,542 (GRCm39) |
F261L |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,809,874 (GRCm39) |
I556L |
probably benign |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,402 (GRCm39) |
R96C |
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,608,070 (GRCm39) |
M1V |
probably null |
Het |
| Zfp558 |
A |
T |
9: 18,367,776 (GRCm39) |
S337R |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,572,909 (GRCm39) |
|
probably benign |
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 |
|
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'- AATGGATCATGGCTGCTATCTTC -3'
(R):5'- GCCTTCATCTCTCCCAGAACAG -3'
Sequencing Primer
(F):5'- TCTTCACATTATTCTCAAAATGGCC -3'
(R):5'- TGACAGGTCATCAAGATGGCTCATC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation