Incidental Mutation 'R8784:Srgap2'
| ID |
670453 |
| 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 |
068606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8784 (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 A
at 131223212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 858
(N858I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
[ENSMUST00000187042]
|
| AlphaFold |
Q91Z67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097588
|
| SMART Domains |
Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
| 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 |
unknown
Transcript: ENSMUST00000186543
AA Change: N858I
|
| SMART Domains |
Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: N858I
| 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 benign
Transcript: ENSMUST00000187042
|
| SMART Domains |
Protein: ENSMUSP00000140927
Gene: ENSMUSG00000026425
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
25 |
80 |
2.8e-17 |
SMART |
|
low complexity region
|
146 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188770
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (87/87) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
T |
7: 45,652,025 (GRCm39) |
M614K |
probably benign |
Het |
| Adamts7 |
G |
T |
9: 90,075,918 (GRCm39) |
V1217L |
probably null |
Het |
| Adcyap1r1 |
T |
A |
6: 55,458,100 (GRCm39) |
N300K |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,576,648 (GRCm39) |
D1017G |
probably damaging |
Het |
| Atg2b |
A |
C |
12: 105,605,500 (GRCm39) |
D1488E |
probably damaging |
Het |
| Atxn2 |
A |
G |
5: 121,933,091 (GRCm39) |
T805A |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,884,960 (GRCm39) |
H223L |
probably benign |
Het |
| Banp |
T |
A |
8: 122,727,852 (GRCm39) |
S349T |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,705,875 (GRCm39) |
I1522N |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,472,126 (GRCm39) |
R2342* |
probably null |
Het |
| C6 |
T |
C |
15: 4,822,622 (GRCm39) |
C623R |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,860,645 (GRCm39) |
Y574H |
possibly damaging |
Het |
| Cdk5rap3 |
C |
T |
11: 96,803,212 (GRCm39) |
C115Y |
probably benign |
Het |
| Chrm4 |
T |
A |
2: 91,758,033 (GRCm39) |
M147K |
probably benign |
Het |
| Cit |
A |
T |
5: 115,984,442 (GRCm39) |
K5* |
probably null |
Het |
| Ciz1 |
T |
A |
2: 32,260,262 (GRCm39) |
S231T |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,961,520 (GRCm39) |
I206V |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,227,863 (GRCm39) |
S34P |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,388,097 (GRCm39) |
I3185M |
probably benign |
Het |
| Dtnbp1 |
T |
C |
13: 45,075,702 (GRCm39) |
D347G |
unknown |
Het |
| Dzip3 |
A |
T |
16: 48,751,628 (GRCm39) |
V767E |
probably damaging |
Het |
| Gdf3 |
A |
T |
6: 122,583,279 (GRCm39) |
C363S |
probably damaging |
Het |
| Glb1l |
T |
C |
1: 75,176,975 (GRCm39) |
K487R |
probably damaging |
Het |
| Gm9747 |
T |
C |
1: 82,212,002 (GRCm39) |
V67A |
unknown |
Het |
| Hoxb2 |
A |
G |
11: 96,242,736 (GRCm39) |
T34A |
possibly damaging |
Het |
| Ifnk |
C |
T |
4: 35,152,383 (GRCm39) |
R104C |
probably damaging |
Het |
| Igfbp1 |
A |
T |
11: 7,151,952 (GRCm39) |
I252F |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,480 (GRCm39) |
T47A |
probably benign |
Het |
| Igkv4-62 |
A |
T |
6: 69,376,946 (GRCm39) |
W68R |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,443,401 (GRCm39) |
I234T |
probably damaging |
Het |
| Ints2 |
T |
A |
11: 86,112,963 (GRCm39) |
I852F |
probably damaging |
Het |
| Ints2 |
G |
A |
11: 86,115,941 (GRCm39) |
Q763* |
probably null |
Het |
| Jhy |
T |
G |
9: 40,872,182 (GRCm39) |
H109P |
probably benign |
Het |
| Katna1 |
T |
A |
10: 7,614,579 (GRCm39) |
V29D |
possibly damaging |
Het |
| Kcng4 |
T |
A |
8: 120,352,970 (GRCm39) |
E313D |
probably benign |
Het |
| Klf14 |
T |
A |
6: 30,935,049 (GRCm39) |
H195L |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,554,212 (GRCm39) |
N472S |
probably benign |
Het |
| Layn |
A |
T |
9: 50,970,781 (GRCm39) |
V254E |
possibly damaging |
Het |
| Lrba |
A |
T |
3: 86,283,235 (GRCm39) |
S1850C |
probably damaging |
Het |
| Map1s |
A |
G |
8: 71,358,909 (GRCm39) |
I2V |
unknown |
Het |
| Map3k12 |
T |
A |
15: 102,413,797 (GRCm39) |
Q58L |
possibly damaging |
Het |
| Minpp1 |
T |
C |
19: 32,491,396 (GRCm39) |
V358A |
probably benign |
Het |
| Mymk |
C |
G |
2: 26,961,947 (GRCm39) |
K27N |
possibly damaging |
Het |
| Nek8 |
T |
C |
11: 78,063,375 (GRCm39) |
K130E |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,405,293 (GRCm39) |
S706C |
probably damaging |
Het |
| Nsun6 |
G |
A |
2: 15,001,306 (GRCm39) |
Q417* |
probably null |
Het |
| Ntsr2 |
G |
T |
12: 16,706,852 (GRCm39) |
Q293H |
probably damaging |
Het |
| Ocln |
T |
A |
13: 100,676,050 (GRCm39) |
I148F |
probably damaging |
Het |
| Or12d12 |
A |
G |
17: 37,610,701 (GRCm39) |
I204T |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,091 (GRCm39) |
Y304N |
probably benign |
Het |
| Or8g30 |
T |
A |
9: 39,229,989 (GRCm39) |
Q307L |
probably benign |
Het |
| Pank3 |
T |
G |
11: 35,672,412 (GRCm39) |
F272V |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,223,328 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
G |
A |
3: 117,116,190 (GRCm39) |
R556* |
probably null |
Het |
| Polr1a |
G |
T |
6: 71,927,612 (GRCm39) |
R821L |
probably benign |
Het |
| Ppp1r36 |
C |
T |
12: 76,485,967 (GRCm39) |
T375I |
probably benign |
Het |
| Ptprj |
T |
A |
2: 90,290,856 (GRCm39) |
I628F |
possibly damaging |
Het |
| Puf60 |
C |
A |
15: 75,949,525 (GRCm39) |
V29F |
unknown |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,435,041 (GRCm39) |
S179G |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,665,337 (GRCm39) |
S772P |
possibly damaging |
Het |
| Rnf103 |
T |
G |
6: 71,486,982 (GRCm39) |
S538A |
probably benign |
Het |
| Scoc |
C |
A |
8: 84,164,245 (GRCm39) |
V58L |
probably benign |
Het |
| Secisbp2l |
G |
A |
2: 125,602,263 (GRCm39) |
Q366* |
probably null |
Het |
| Slc16a14 |
T |
C |
1: 84,890,784 (GRCm39) |
T174A |
probably benign |
Het |
| Slc25a22 |
A |
C |
7: 141,011,020 (GRCm39) |
*324G |
probably null |
Het |
| Smarca2 |
C |
T |
19: 26,753,558 (GRCm39) |
T197I |
probably benign |
Het |
| Speg |
T |
C |
1: 75,381,793 (GRCm39) |
|
probably benign |
Het |
| Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
| Tbc1d22b |
T |
C |
17: 29,818,918 (GRCm39) |
I424T |
probably damaging |
Het |
| Tcaf1 |
T |
G |
6: 42,656,221 (GRCm39) |
T252P |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,943,613 (GRCm39) |
D77G |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,941 (GRCm39) |
F237S |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,208,675 (GRCm39) |
E348G |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,896,040 (GRCm39) |
D959G |
probably benign |
Het |
| Ttc24 |
A |
T |
3: 87,980,033 (GRCm39) |
C182* |
probably null |
Het |
| Tti1 |
T |
C |
2: 157,850,514 (GRCm39) |
T242A |
probably benign |
Het |
| Ube2q2l |
G |
A |
6: 136,378,729 (GRCm39) |
Q34* |
probably null |
Het |
| Ube3b |
G |
T |
5: 114,526,800 (GRCm39) |
C100F |
probably damaging |
Het |
| Vmn1r26 |
T |
A |
6: 57,985,440 (GRCm39) |
T250S |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,780,526 (GRCm39) |
T505A |
probably benign |
Het |
| Vps13a |
C |
A |
19: 16,642,153 (GRCm39) |
W2158L |
probably damaging |
Het |
| Vwa1 |
A |
T |
4: 155,857,345 (GRCm39) |
V151E |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,742,961 (GRCm39) |
S46P |
probably damaging |
Het |
| Zfp773 |
C |
A |
7: 7,135,570 (GRCm39) |
C342F |
probably benign |
Het |
| Zscan12 |
T |
A |
13: 21,547,991 (GRCm39) |
S58T |
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 |
|
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 |
|
|
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'- TTTCACCCCTCCAAAGTCAG -3'
(R):5'- GCTCCCTTTCACACTAGCAG -3'
Sequencing Primer
(F):5'- GGAGGAATACAAACTGTGCGTCATC -3'
(R):5'- AGCACTGTGTATTATACTTCCCTGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation