Incidental Mutation 'R9041:Srgap3'
| ID |
687721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
068868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R9041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112754054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 243
(Y243C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088373
AA Change: Y243C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: Y243C
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
22 |
120 |
3.81e-16 |
SMART |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
RhoGAP
|
517 |
691 |
7.43e-66 |
SMART |
|
SH3
|
747 |
802 |
9.69e-15 |
SMART |
|
coiled coil region
|
955 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1053 |
1064 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113169
AA Change: Y243C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: Y243C
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
22 |
120 |
3.81e-16 |
SMART |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
392 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
434 |
474 |
4e-11 |
BLAST |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
RhoGAP
|
493 |
667 |
7.43e-66 |
SMART |
|
SH3
|
723 |
778 |
9.69e-15 |
SMART |
|
coiled coil region
|
931 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
1001 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1040 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in spine density in the brain CA1 and cortical layers IV/V. Mice homozygous for a different knock-out allele exhibit a neurodevelopment disorder with schizophrenia-related intermediate phenotypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,062,054 (GRCm39) |
I168T |
probably benign |
Het |
| Acvr2b |
G |
T |
9: 119,257,052 (GRCm39) |
E94* |
probably null |
Het |
| Adcy8 |
A |
T |
15: 64,609,287 (GRCm39) |
I874N |
probably benign |
Het |
| Ahcyl |
T |
G |
16: 45,974,468 (GRCm39) |
D303A |
possibly damaging |
Het |
| Angptl1 |
G |
T |
1: 156,685,999 (GRCm39) |
D362Y |
probably damaging |
Het |
| Arc |
A |
G |
15: 74,543,896 (GRCm39) |
V109A |
probably damaging |
Het |
| Asphd2 |
T |
A |
5: 112,539,768 (GRCm39) |
T22S |
probably benign |
Het |
| Caprin2 |
A |
T |
6: 148,771,030 (GRCm39) |
N321K |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,282,793 (GRCm39) |
D547G |
possibly damaging |
Het |
| Cd38 |
G |
A |
5: 44,058,899 (GRCm39) |
|
probably null |
Het |
| Cd3g |
A |
G |
9: 44,884,818 (GRCm39) |
V142A |
possibly damaging |
Het |
| Chrna6 |
A |
T |
8: 27,896,923 (GRCm39) |
I318N |
probably damaging |
Het |
| Cmah |
T |
C |
13: 24,641,004 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cplx4 |
T |
C |
18: 66,103,097 (GRCm39) |
M8V |
probably damaging |
Het |
| Dnajc19 |
T |
C |
3: 34,134,282 (GRCm39) |
K27R |
probably damaging |
Het |
| E2f3 |
C |
A |
13: 30,093,939 (GRCm39) |
D441Y |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,822,818 (GRCm39) |
K777R |
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,532,715 (GRCm39) |
V551I |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,427 (GRCm39) |
E220G |
probably benign |
Het |
| Gal3st2 |
T |
C |
1: 93,800,206 (GRCm39) |
V19A |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,357,530 (GRCm39) |
E246G |
probably benign |
Het |
| Gm10228 |
A |
T |
16: 88,838,113 (GRCm39) |
Y64N |
unknown |
Het |
| Gsdmc4 |
T |
C |
15: 63,774,586 (GRCm39) |
N65S |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,103,861 (GRCm39) |
A1105S |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,724,909 (GRCm39) |
L376* |
probably null |
Het |
| Il6st |
A |
G |
13: 112,611,631 (GRCm39) |
T18A |
probably benign |
Het |
| Kif3b |
T |
C |
2: 153,159,468 (GRCm39) |
I423T |
probably benign |
Het |
| Klf17 |
T |
C |
4: 117,617,556 (GRCm39) |
Y267C |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,927,093 (GRCm39) |
T1183A |
probably benign |
Het |
| Lrrc71 |
A |
G |
3: 87,650,660 (GRCm39) |
S201P |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,509 (GRCm39) |
D75E |
probably damaging |
Het |
| Myef2l |
T |
C |
3: 10,157,353 (GRCm39) |
*499Q |
probably null |
Het |
| Myf6 |
A |
G |
10: 107,329,225 (GRCm39) |
V240A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,450 (GRCm39) |
M698V |
possibly damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,753 (GRCm39) |
S1287P |
possibly damaging |
Het |
| Or10ab5 |
A |
G |
7: 108,245,589 (GRCm39) |
S65P |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,400,441 (GRCm39) |
S1052T |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,538,132 (GRCm39) |
C898* |
probably null |
Het |
| Pdcd1 |
T |
C |
1: 93,969,091 (GRCm39) |
T76A |
probably benign |
Het |
| Plin2 |
T |
A |
4: 86,578,504 (GRCm39) |
M198L |
probably benign |
Het |
| Prmt7 |
T |
A |
8: 106,963,460 (GRCm39) |
V180D |
possibly damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,320,405 (GRCm39) |
Y549H |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,600,018 (GRCm39) |
S80P |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,787,546 (GRCm39) |
E235D |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,808,503 (GRCm39) |
C805R |
probably damaging |
Het |
| Serpina9 |
A |
T |
12: 103,967,737 (GRCm39) |
S219R |
|
Het |
| Sesn2 |
G |
A |
4: 132,225,272 (GRCm39) |
T298I |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,324,872 (GRCm39) |
V838E |
possibly damaging |
Het |
| Sfpq |
C |
A |
4: 126,915,296 (GRCm39) |
H29Q |
unknown |
Het |
| Smchd1 |
A |
G |
17: 71,701,710 (GRCm39) |
|
probably null |
Het |
| Sprr1b |
A |
G |
3: 92,344,477 (GRCm39) |
V133A |
probably benign |
Het |
| Thop1 |
C |
T |
10: 80,917,228 (GRCm39) |
A577V |
possibly damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,410,014 (GRCm39) |
D200V |
probably benign |
Het |
| Treh |
A |
T |
9: 44,596,677 (GRCm39) |
K512M |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,845,127 (GRCm39) |
V1537A |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,582,083 (GRCm39) |
T44A |
probably benign |
Het |
| Vmn1r225 |
T |
A |
17: 20,722,577 (GRCm39) |
M6K |
possibly damaging |
Het |
| Vmn2r90 |
A |
C |
17: 17,954,286 (GRCm39) |
M817L |
probably benign |
Het |
| Zfp68 |
A |
T |
5: 138,604,699 (GRCm39) |
Y541* |
probably null |
Het |
|
| Other mutations in Srgap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Srgap3
|
APN |
6 |
112,716,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01325:Srgap3
|
APN |
6 |
112,752,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Srgap3
|
APN |
6 |
112,923,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01626:Srgap3
|
APN |
6 |
112,750,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01787:Srgap3
|
APN |
6 |
112,699,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02698:Srgap3
|
APN |
6 |
112,723,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02805:Srgap3
|
APN |
6 |
112,704,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02813:Srgap3
|
APN |
6 |
112,708,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02876:Srgap3
|
APN |
6 |
112,748,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Srgap3
|
APN |
6 |
112,793,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Srgap3
|
APN |
6 |
112,752,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Srgap3
|
UTSW |
6 |
112,806,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Srgap3
|
UTSW |
6 |
112,748,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0607:Srgap3
|
UTSW |
6 |
112,700,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Srgap3
|
UTSW |
6 |
112,716,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1669:Srgap3
|
UTSW |
6 |
112,699,865 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1858:Srgap3
|
UTSW |
6 |
112,748,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Srgap3
|
UTSW |
6 |
112,752,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1896:Srgap3
|
UTSW |
6 |
112,715,958 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2159:Srgap3
|
UTSW |
6 |
112,748,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2221:Srgap3
|
UTSW |
6 |
112,923,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2862:Srgap3
|
UTSW |
6 |
112,699,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3160:Srgap3
|
UTSW |
6 |
112,706,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3162:Srgap3
|
UTSW |
6 |
112,706,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4092:Srgap3
|
UTSW |
6 |
112,700,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4561:Srgap3
|
UTSW |
6 |
112,758,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4781:Srgap3
|
UTSW |
6 |
112,734,386 (GRCm39) |
intron |
probably benign |
|
|
R4825:Srgap3
|
UTSW |
6 |
112,704,271 (GRCm39) |
missense |
probably benign |
|
|
R4887:Srgap3
|
UTSW |
6 |
112,723,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Srgap3
|
UTSW |
6 |
112,743,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Srgap3
|
UTSW |
6 |
112,716,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5672:Srgap3
|
UTSW |
6 |
112,752,522 (GRCm39) |
missense |
probably benign |
|
|
R5879:Srgap3
|
UTSW |
6 |
112,699,807 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5944:Srgap3
|
UTSW |
6 |
112,772,775 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6277:Srgap3
|
UTSW |
6 |
112,716,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6298:Srgap3
|
UTSW |
6 |
112,793,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6407:Srgap3
|
UTSW |
6 |
112,699,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6408:Srgap3
|
UTSW |
6 |
112,699,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6797:Srgap3
|
UTSW |
6 |
112,806,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Srgap3
|
UTSW |
6 |
112,793,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Srgap3
|
UTSW |
6 |
112,700,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Srgap3
|
UTSW |
6 |
112,723,924 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7067:Srgap3
|
UTSW |
6 |
112,734,266 (GRCm39) |
intron |
probably benign |
|
|
R7361:Srgap3
|
UTSW |
6 |
112,723,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7479:Srgap3
|
UTSW |
6 |
112,712,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7606:Srgap3
|
UTSW |
6 |
112,716,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7731:Srgap3
|
UTSW |
6 |
112,743,858 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7787:Srgap3
|
UTSW |
6 |
112,752,520 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7934:Srgap3
|
UTSW |
6 |
112,708,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8040:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Srgap3
|
UTSW |
6 |
112,748,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8067:Srgap3
|
UTSW |
6 |
112,716,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8090:Srgap3
|
UTSW |
6 |
112,757,996 (GRCm39) |
nonsense |
probably null |
|
|
R8151:Srgap3
|
UTSW |
6 |
112,793,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Srgap3
|
UTSW |
6 |
112,700,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8365:Srgap3
|
UTSW |
6 |
112,793,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8369:Srgap3
|
UTSW |
6 |
112,699,779 (GRCm39) |
missense |
probably benign |
|
|
R8444:Srgap3
|
UTSW |
6 |
112,752,509 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8509:Srgap3
|
UTSW |
6 |
112,708,297 (GRCm39) |
nonsense |
probably null |
|
|
R8772:Srgap3
|
UTSW |
6 |
112,743,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Srgap3
|
UTSW |
6 |
112,716,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Srgap3
|
UTSW |
6 |
112,700,098 (GRCm39) |
missense |
probably benign |
|
|
R9002:Srgap3
|
UTSW |
6 |
112,757,854 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9198:Srgap3
|
UTSW |
6 |
112,743,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Srgap3
|
UTSW |
6 |
112,706,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9616:Srgap3
|
UTSW |
6 |
112,748,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Srgap3
|
UTSW |
6 |
112,772,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGTTAAGGACCATGGCC -3'
(R):5'- GAAGCATCCCATAACTAGGAGG -3'
Sequencing Primer
(F):5'- AGTTAAGGACCATGGCCAGCTC -3'
(R):5'- TCCCATAACTAGGAGGTGGGACTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation