Incidental Mutation 'R7007:Srgap2'
ID |
544749 |
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 |
045109-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7007 (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 131247275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 586
(I586V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
|
AlphaFold |
Q91Z67 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097588
AA Change: I586V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095195 Gene: ENSMUSG00000026425 AA Change: I586V
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: I445V
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000141140 Gene: ENSMUSG00000026425 AA Change: I445V
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: I586V
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000139405 Gene: ENSMUSG00000026425 AA Change: I586V
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
95% (63/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
C |
T |
14: 35,817,121 (GRCm39) |
T57I |
probably benign |
Het |
Adcy8 |
T |
C |
15: 64,576,565 (GRCm39) |
N999S |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,684,483 (GRCm39) |
I1073F |
possibly damaging |
Het |
Akap3 |
A |
G |
6: 126,843,439 (GRCm39) |
D686G |
probably damaging |
Het |
Alg2 |
A |
T |
4: 47,471,881 (GRCm39) |
I309N |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,639,168 (GRCm39) |
E1360G |
probably benign |
Het |
Aox1 |
C |
A |
1: 58,370,051 (GRCm39) |
Q788K |
probably damaging |
Het |
Apoc2 |
A |
T |
7: 19,407,282 (GRCm39) |
D26E |
possibly damaging |
Het |
Bbx |
G |
A |
16: 50,022,851 (GRCm39) |
T703I |
possibly damaging |
Het |
C2cd4d |
T |
C |
3: 94,271,378 (GRCm39) |
Y215H |
probably benign |
Het |
C3 |
C |
T |
17: 57,525,809 (GRCm39) |
E858K |
probably benign |
Het |
Ciita |
T |
C |
16: 10,329,171 (GRCm39) |
L482P |
probably damaging |
Het |
Cldn9 |
T |
C |
17: 23,902,052 (GRCm39) |
E191G |
probably benign |
Het |
Cnst |
T |
A |
1: 179,438,133 (GRCm39) |
S566T |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,417,609 (GRCm39) |
I1322T |
possibly damaging |
Het |
Cp |
G |
A |
3: 20,024,137 (GRCm39) |
V326M |
probably damaging |
Het |
Cyp7b1 |
G |
A |
3: 18,151,782 (GRCm39) |
Q144* |
probably null |
Het |
Dnah10 |
T |
C |
5: 124,864,490 (GRCm39) |
S2232P |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,009,697 (GRCm39) |
E625G |
possibly damaging |
Het |
Dnah7c |
T |
A |
1: 46,571,910 (GRCm39) |
D794E |
probably benign |
Het |
Dusp10 |
G |
A |
1: 183,769,414 (GRCm39) |
V127M |
probably benign |
Het |
Dysf |
G |
C |
6: 84,090,962 (GRCm39) |
W1015C |
probably damaging |
Het |
Fbxw17 |
T |
C |
13: 50,577,808 (GRCm39) |
Y104H |
probably damaging |
Het |
Gm6408 |
G |
A |
5: 146,420,647 (GRCm39) |
E176K |
probably damaging |
Het |
Gp1bb |
T |
A |
16: 18,439,689 (GRCm39) |
D135V |
possibly damaging |
Het |
Gprin1 |
C |
T |
13: 54,886,069 (GRCm39) |
C735Y |
probably damaging |
Het |
Heatr9 |
T |
A |
11: 83,411,446 (GRCm39) |
M30L |
possibly damaging |
Het |
Hhat |
G |
A |
1: 192,376,134 (GRCm39) |
T333I |
possibly damaging |
Het |
Htr5b |
A |
G |
1: 121,438,223 (GRCm39) |
F336S |
probably damaging |
Het |
Ippk |
T |
G |
13: 49,590,181 (GRCm39) |
|
probably null |
Het |
Jph1 |
T |
A |
1: 17,074,410 (GRCm39) |
H11L |
possibly damaging |
Het |
Kif12 |
T |
A |
4: 63,084,717 (GRCm39) |
I534L |
probably benign |
Het |
Lemd3 |
A |
T |
10: 120,788,137 (GRCm39) |
F523I |
probably benign |
Het |
Lgsn |
C |
A |
1: 31,229,508 (GRCm39) |
H76Q |
probably benign |
Het |
Lipm |
T |
A |
19: 34,089,497 (GRCm39) |
W152R |
probably damaging |
Het |
Mei1 |
A |
T |
15: 81,978,200 (GRCm39) |
R216W |
probably damaging |
Het |
Mybpc1 |
C |
T |
10: 88,389,274 (GRCm39) |
G379S |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,179,142 (GRCm39) |
T512A |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,337,849 (GRCm39) |
|
probably null |
Het |
Npc1 |
T |
C |
18: 12,343,605 (GRCm39) |
T463A |
probably benign |
Het |
Or12e10 |
A |
G |
2: 87,640,230 (GRCm39) |
N22S |
probably damaging |
Het |
Or2y13 |
G |
A |
11: 49,415,011 (GRCm39) |
V154M |
probably benign |
Het |
Or6c7 |
A |
T |
10: 129,323,277 (GRCm39) |
I133F |
probably damaging |
Het |
Osbpl11 |
T |
G |
16: 33,047,309 (GRCm39) |
I424R |
possibly damaging |
Het |
Pnma8b |
A |
T |
7: 16,680,181 (GRCm39) |
K388N |
possibly damaging |
Het |
Ppp1r26 |
A |
T |
2: 28,341,171 (GRCm39) |
K267I |
probably damaging |
Het |
Psmb5 |
A |
T |
14: 54,854,166 (GRCm39) |
M104K |
probably damaging |
Het |
Ptges2 |
T |
C |
2: 32,292,318 (GRCm39) |
V378A |
probably benign |
Het |
Rcan2 |
C |
T |
17: 44,147,216 (GRCm39) |
S18F |
probably benign |
Het |
Saxo5 |
A |
T |
8: 3,526,309 (GRCm39) |
D154V |
probably damaging |
Het |
Sf3b2 |
C |
T |
19: 5,324,545 (GRCm39) |
R859Q |
probably benign |
Het |
Slc7a1 |
G |
A |
5: 148,289,256 (GRCm39) |
|
|
Het |
Spata31d1a |
T |
A |
13: 59,851,448 (GRCm39) |
T227S |
probably benign |
Het |
Sptbn2 |
T |
A |
19: 4,794,173 (GRCm39) |
V1459E |
possibly damaging |
Het |
St6galnac1 |
G |
A |
11: 116,657,833 (GRCm39) |
R356* |
probably null |
Het |
Taf5 |
T |
A |
19: 47,059,650 (GRCm39) |
F265I |
probably damaging |
Het |
Tkfc |
T |
A |
19: 10,573,727 (GRCm39) |
I229L |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,436,679 (GRCm39) |
L56Q |
probably damaging |
Het |
Togaram2 |
C |
T |
17: 72,016,638 (GRCm39) |
A665V |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,537,390 (GRCm39) |
T34846I |
probably benign |
Het |
Tyr |
G |
A |
7: 87,142,548 (GRCm39) |
A4V |
probably benign |
Het |
Ubap2 |
A |
C |
4: 41,206,221 (GRCm39) |
F549L |
probably damaging |
Het |
Usp2 |
T |
C |
9: 44,001,339 (GRCm39) |
S294P |
probably damaging |
Het |
Vrk3 |
A |
G |
7: 44,407,187 (GRCm39) |
N53D |
probably damaging |
Het |
Zfp324 |
T |
C |
7: 12,705,142 (GRCm39) |
S444P |
probably damaging |
Het |
Zfp597 |
T |
C |
16: 3,683,791 (GRCm39) |
I322V |
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 |
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'- TCTGACAAGACTGGATCTTACGG -3'
(R):5'- CTGTGATTTGCCTAACTCGC -3'
Sequencing Primer
(F):5'- AAGGAGTCTTGACTTAAATTCTATGC -3'
(R):5'- CTTTCTTTCCTTTCGGACTGGGG -3'
|
Posted On |
2019-05-13 |