Incidental Mutation 'R6965:Srgap3'
| ID |
541940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
045075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R6965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112700090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 963
(A963T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108794
(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: A987T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: A987T
| 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: A963T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: A963T
| 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: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 119,882,452 (GRCm39) |
Q1205* |
probably null |
Het |
| Als2 |
A |
G |
1: 59,209,716 (GRCm39) |
F1422S |
possibly damaging |
Het |
| Anapc4 |
T |
C |
5: 52,993,093 (GRCm39) |
V68A |
possibly damaging |
Het |
| Atmin |
T |
C |
8: 117,683,777 (GRCm39) |
F479S |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,518,101 (GRCm39) |
T234A |
probably benign |
Het |
| Bpifa1 |
G |
A |
2: 153,987,581 (GRCm39) |
G144S |
probably damaging |
Het |
| Brf2 |
A |
T |
8: 27,614,586 (GRCm39) |
M200K |
probably benign |
Het |
| C1ql2 |
G |
A |
1: 120,268,944 (GRCm39) |
C33Y |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,045,319 (GRCm39) |
V269A |
probably damaging |
Het |
| Clcc1 |
T |
C |
3: 108,580,625 (GRCm39) |
V313A |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,052,845 (GRCm39) |
T1117S |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,247,533 (GRCm39) |
E236K |
probably damaging |
Het |
| Comp |
T |
C |
8: 70,829,164 (GRCm39) |
L278P |
probably damaging |
Het |
| Csnk2a1-ps3 |
C |
T |
1: 156,352,119 (GRCm39) |
R107* |
probably null |
Het |
| Dlg5 |
C |
A |
14: 24,199,498 (GRCm39) |
D1469Y |
probably damaging |
Het |
| Efna1 |
A |
T |
3: 89,186,782 (GRCm39) |
V23D |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epb41l4b |
T |
C |
4: 57,040,915 (GRCm39) |
Y516C |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,168,631 (GRCm39) |
D526G |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,712,477 (GRCm39) |
T514A |
probably benign |
Het |
| Fcmr |
A |
C |
1: 130,803,724 (GRCm39) |
E176A |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,339,685 (GRCm39) |
N1485K |
possibly damaging |
Het |
| Fut2 |
A |
G |
7: 45,300,305 (GRCm39) |
C156R |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,786,027 (GRCm39) |
Y116C |
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,967,047 (GRCm39) |
V61E |
possibly damaging |
Het |
| Golga4 |
A |
T |
9: 118,377,847 (GRCm39) |
Q456L |
probably damaging |
Het |
| Gpam |
T |
C |
19: 55,063,041 (GRCm39) |
Y757C |
probably damaging |
Het |
| Iqcg |
C |
T |
16: 32,851,174 (GRCm39) |
A266T |
probably benign |
Het |
| Lta4h |
G |
T |
10: 93,307,759 (GRCm39) |
G331* |
probably null |
Het |
| Macf1 |
C |
A |
4: 123,302,538 (GRCm39) |
V655F |
probably benign |
Het |
| Map3k13 |
T |
A |
16: 21,740,900 (GRCm39) |
D742E |
probably benign |
Het |
| Mrgprb2 |
G |
A |
7: 48,202,597 (GRCm39) |
L43F |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,571,461 (GRCm39) |
R846G |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,970,863 (GRCm39) |
I282T |
probably benign |
Het |
| Ncor1 |
C |
T |
11: 62,244,059 (GRCm39) |
|
probably null |
Het |
| Or4a77 |
G |
T |
2: 89,487,009 (GRCm39) |
P259T |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,066,120 (GRCm39) |
F12S |
possibly damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
| Pclo |
A |
G |
5: 14,731,976 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
G |
T |
17: 31,662,861 (GRCm39) |
V97L |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,881 (GRCm39) |
Y771C |
possibly damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,551,284 (GRCm39) |
D94N |
probably damaging |
Het |
| Rnpep |
T |
A |
1: 135,190,858 (GRCm39) |
K602* |
probably null |
Het |
| Rph3al |
T |
C |
11: 75,745,276 (GRCm39) |
Y156C |
probably damaging |
Het |
| Rundc1 |
A |
T |
11: 101,324,737 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,509,859 (GRCm39) |
K17R |
possibly damaging |
Het |
| Smpd3 |
T |
C |
8: 106,986,513 (GRCm39) |
H459R |
probably damaging |
Het |
| Spata31 |
A |
C |
13: 65,070,648 (GRCm39) |
Q932P |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,179,120 (GRCm39) |
F4451L |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,014,266 (GRCm39) |
|
probably null |
Het |
| Thap12 |
T |
A |
7: 98,364,669 (GRCm39) |
V279D |
probably damaging |
Het |
| Tmprss6 |
T |
C |
15: 78,328,328 (GRCm39) |
D544G |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,164,930 (GRCm39) |
*523W |
probably null |
Het |
| Txnrd1 |
T |
C |
10: 82,717,652 (GRCm39) |
I212T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,685,725 (GRCm39) |
I2283T |
probably benign |
Het |
| Vmn1r176 |
A |
G |
7: 23,535,099 (GRCm39) |
I18T |
possibly damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,651,100 (GRCm39) |
H166Q |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,991,059 (GRCm39) |
V723A |
possibly damaging |
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 |
|
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 |
|
R9041:Srgap3
|
UTSW |
6 |
112,754,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TGCTGAACCACAGGTCTGAC -3'
(R):5'- ACAGGGAATGAATGCTCGC -3'
Sequencing Primer
(F):5'- GAACCACAGGTCTGACCGGAC -3'
(R):5'- CCCTGAGTTGGTTGCAAGAC -3'
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| Posted On |
2018-11-28 |
Incidental Mutation