Incidental Mutation 'R7606:Srgap3'
| ID |
588296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
045676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R7606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 112716337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 621
(I621S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088373]
[ENSMUST00000113169]
[ENSMUST00000131835]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088373
AA Change: I621S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: I621S
| 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 benign
Transcript: ENSMUST00000113169
AA Change: I597S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: I597S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131835
|
| SMART Domains |
Protein: ENSMUSP00000130063
Gene: ENSMUSG00000030257
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
1 |
33 |
2e-14 |
BLAST |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,943,456 (GRCm39) |
|
probably null |
Het |
| Adat1 |
T |
C |
8: 112,709,236 (GRCm39) |
K196E |
possibly damaging |
Het |
| Aire |
T |
C |
10: 77,873,767 (GRCm39) |
D314G |
probably damaging |
Het |
| Atp11a |
C |
T |
8: 12,894,427 (GRCm39) |
T674I |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,688,186 (GRCm39) |
D644G |
probably damaging |
Het |
| Bag4 |
A |
G |
8: 26,259,333 (GRCm39) |
S289P |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,994,358 (GRCm39) |
H46Q |
probably benign |
Het |
| Btg4 |
A |
G |
9: 51,029,307 (GRCm39) |
N164S |
probably damaging |
Het |
| Ccz1 |
G |
A |
5: 143,951,626 (GRCm39) |
A2V |
probably benign |
Het |
| Cd209g |
T |
C |
8: 4,186,839 (GRCm39) |
L128P |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,493,571 (GRCm39) |
M1380K |
probably benign |
Het |
| Cpox |
T |
C |
16: 58,494,812 (GRCm39) |
V283A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,894,776 (GRCm39) |
D3504V |
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,503,625 (GRCm39) |
I741F |
probably benign |
Het |
| Fam171a2 |
A |
G |
11: 102,335,002 (GRCm39) |
V45A |
possibly damaging |
Het |
| Fem1a |
A |
G |
17: 56,563,946 (GRCm39) |
D13G |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,570,003 (GRCm39) |
I9T |
probably benign |
Het |
| Golt1b |
G |
A |
6: 142,338,068 (GRCm39) |
G13D |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,070,455 (GRCm39) |
N1653D |
probably benign |
Het |
| Hrg |
A |
G |
16: 22,769,873 (GRCm39) |
M1V |
probably null |
Het |
| Itgb2 |
T |
A |
10: 77,391,995 (GRCm39) |
I356N |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,383,064 (GRCm39) |
E130G |
probably damaging |
Het |
| Kpna2 |
A |
T |
11: 106,882,884 (GRCm39) |
F124Y |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,812,060 (GRCm39) |
I824T |
probably damaging |
Het |
| Meis2 |
T |
C |
2: 115,893,801 (GRCm39) |
H38R |
possibly damaging |
Het |
| Mknk1 |
T |
G |
4: 115,735,191 (GRCm39) |
I353S |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,242,955 (GRCm39) |
I27N |
probably damaging |
Het |
| Mup4 |
T |
C |
4: 59,958,568 (GRCm39) |
T111A |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,795,424 (GRCm39) |
V53A |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,116,456 (GRCm39) |
E994A |
|
Het |
| Nlrc5 |
T |
C |
8: 95,203,745 (GRCm39) |
M615T |
possibly damaging |
Het |
| Nup88 |
T |
C |
11: 70,852,441 (GRCm39) |
E218G |
possibly damaging |
Het |
| Or10g3b |
A |
T |
14: 52,587,420 (GRCm39) |
F28I |
probably benign |
Het |
| Or4c114 |
A |
G |
2: 88,905,641 (GRCm39) |
|
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,447,723 (GRCm39) |
D19G |
probably benign |
Het |
| Parp2 |
A |
T |
14: 51,057,487 (GRCm39) |
T429S |
probably damaging |
Het |
| Pcdhb6 |
G |
A |
18: 37,468,659 (GRCm39) |
E527K |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,982,715 (GRCm39) |
Y778C |
probably damaging |
Het |
| Pea15a |
T |
C |
1: 172,028,150 (GRCm39) |
|
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,967,683 (GRCm39) |
Y420H |
probably damaging |
Het |
| Ppp1ca |
C |
A |
19: 4,243,088 (GRCm39) |
S85R |
possibly damaging |
Het |
| Pth |
A |
C |
7: 112,985,450 (GRCm39) |
I13S |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,460,578 (GRCm39) |
T842A |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,419,806 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,276,314 (GRCm39) |
L323F |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,475,590 (GRCm39) |
Y4539* |
probably null |
Het |
| Scamp3 |
T |
A |
3: 89,088,525 (GRCm39) |
F244I |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,877,658 (GRCm39) |
D58G |
probably benign |
Het |
| Skor1 |
G |
T |
9: 63,052,664 (GRCm39) |
A435E |
probably damaging |
Het |
| Slc35a4 |
A |
G |
18: 36,815,638 (GRCm39) |
Y156C |
probably benign |
Het |
| Spryd7 |
T |
C |
14: 61,777,607 (GRCm39) |
T158A |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,815,066 (GRCm39) |
E581G |
probably damaging |
Het |
| Tcf4 |
C |
T |
18: 69,776,054 (GRCm39) |
T318I |
probably damaging |
Het |
| Usf3 |
C |
T |
16: 44,039,306 (GRCm39) |
T1262M |
probably damaging |
Het |
| Vcam1 |
T |
C |
3: 115,914,704 (GRCm39) |
D316G |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,400,362 (GRCm39) |
E229V |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,304,120 (GRCm39) |
E1288G |
probably benign |
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 |
|
|
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'- TGTTCACCCACAAGGCAAAG -3'
(R):5'- ATCCCAACTGAGAGTAGAGCCTTC -3'
Sequencing Primer
(F):5'- AAGCCTCCCCCAGAGTTTC -3'
(R):5'- AGAGTAGAGCCTTCCTGATTGATCC -3'
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| Posted On |
2019-10-24 |
Incidental Mutation