Incidental Mutation 'R7731:Srgap3'
| ID |
595826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
045787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R7731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112694932-112924227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112743858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 460
(H460R)
|
| 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: H460R
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: H460R
| 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 |
possibly damaging
Transcript: ENSMUST00000113169
AA Change: H460R
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: H460R
| 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 |
unknown
Transcript: ENSMUST00000131835
AA Change: H14R
|
| SMART Domains |
Protein: ENSMUSP00000130063
Gene: ENSMUSG00000030257
AA Change: H14R
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,470 (GRCm39) |
E210G |
possibly damaging |
Het |
| Accsl |
T |
C |
2: 93,691,363 (GRCm39) |
T372A |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,451 (GRCm39) |
S1049T |
probably damaging |
Het |
| Agmo |
G |
A |
12: 37,464,939 (GRCm39) |
R405K |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,031 (GRCm39) |
T217A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,603,107 (GRCm39) |
N45K |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,622,172 (GRCm39) |
T560I |
probably benign |
Het |
| Aqp1 |
T |
C |
6: 55,322,804 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,434,936 (GRCm39) |
V194M |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,391,086 (GRCm39) |
V320A |
probably benign |
Het |
| B230217C12Rik |
T |
C |
11: 97,732,226 (GRCm39) |
L2P |
unknown |
Het |
| Bco1 |
C |
A |
8: 117,857,807 (GRCm39) |
S477R |
possibly damaging |
Het |
| Brd4 |
A |
G |
17: 32,430,198 (GRCm39) |
S703P |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,892,275 (GRCm39) |
N339K |
|
Het |
| Cebpb |
A |
G |
2: 167,531,126 (GRCm39) |
D62G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,658,546 (GRCm39) |
I890V |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,633 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
T |
C |
11: 118,059,879 (GRCm39) |
T374A |
possibly damaging |
Het |
| Dennd3 |
A |
T |
15: 73,434,216 (GRCm39) |
H962L |
probably damaging |
Het |
| Dhtkd1 |
T |
G |
2: 5,928,923 (GRCm39) |
L249F |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,178,905 (GRCm39) |
H859Q |
probably benign |
Het |
| E2f4 |
A |
G |
8: 106,025,265 (GRCm39) |
D115G |
probably damaging |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,871 (GRCm39) |
I111V |
probably benign |
Het |
| Exoc3l4 |
G |
C |
12: 111,397,182 (GRCm39) |
D688H |
possibly damaging |
Het |
| Fan1 |
C |
T |
7: 64,022,444 (GRCm39) |
V270I |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,532 (GRCm39) |
I514N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,992,271 (GRCm39) |
T475I |
unknown |
Het |
| Fstl5 |
T |
A |
3: 76,569,069 (GRCm39) |
I574N |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,057,258 (GRCm39) |
V435A |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,327 (GRCm39) |
F492S |
probably damaging |
Het |
| Gm4924 |
T |
A |
10: 82,213,361 (GRCm39) |
N386K |
unknown |
Het |
| Hbp1 |
A |
T |
12: 31,983,367 (GRCm39) |
D362E |
possibly damaging |
Het |
| Hectd4 |
A |
C |
5: 121,445,077 (GRCm39) |
M105L |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,458 (GRCm39) |
P2424L |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,157,791 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,111,665 (GRCm39) |
V122A |
probably damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,302 (GRCm39) |
N402K |
possibly damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,921,927 (GRCm39) |
F207S |
probably damaging |
Het |
| Kbtbd8 |
C |
A |
6: 95,095,559 (GRCm39) |
N24K |
probably benign |
Het |
| Krtap10-4 |
T |
G |
10: 77,662,654 (GRCm39) |
T75P |
unknown |
Het |
| Macf1 |
C |
A |
4: 123,338,672 (GRCm39) |
S4355I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,042 (GRCm39) |
|
probably null |
Het |
| Myo3a |
G |
A |
2: 22,287,400 (GRCm39) |
V179M |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,048,870 (GRCm39) |
T462K |
possibly damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,141 (GRCm39) |
S91T |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,091,561 (GRCm39) |
M103V |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,424,141 (GRCm39) |
I137V |
probably benign |
Het |
| Or5j1 |
T |
C |
2: 86,879,578 (GRCm39) |
M1V |
probably null |
Het |
| Or8b53 |
A |
G |
9: 38,667,542 (GRCm39) |
Q186R |
possibly damaging |
Het |
| Ostn |
G |
A |
16: 27,165,668 (GRCm39) |
R119Q |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,889,564 (GRCm39) |
N191Y |
probably benign |
Het |
| Pcsk6 |
A |
T |
7: 65,683,641 (GRCm39) |
Q752L |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,890,871 (GRCm39) |
T347A |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,792,872 (GRCm39) |
R1520W |
probably damaging |
Het |
| Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,399,732 (GRCm39) |
S2264P |
probably damaging |
Het |
| Ptcd1 |
C |
A |
5: 145,088,174 (GRCm39) |
R612S |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,965,492 (GRCm39) |
F359Y |
probably benign |
Het |
| Ptprr |
A |
C |
10: 116,073,200 (GRCm39) |
D474A |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,490,274 (GRCm39) |
Q846K |
probably benign |
Het |
| Slc22a14 |
C |
T |
9: 118,999,677 (GRCm39) |
A505T |
possibly damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,650 (GRCm39) |
Y151C |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
A |
G |
13: 53,487,993 (GRCm39) |
V450A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,187,821 (GRCm39) |
Y43C |
probably benign |
Het |
| Syt15 |
A |
T |
14: 33,945,024 (GRCm39) |
E190D |
possibly damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,797,993 (GRCm39) |
K716R |
probably benign |
Het |
| Tbx20 |
T |
C |
9: 24,681,993 (GRCm39) |
I120M |
probably damaging |
Het |
| Tgm1 |
T |
G |
14: 55,947,978 (GRCm39) |
I274L |
probably benign |
Het |
| Tmem156 |
C |
T |
5: 65,232,905 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
A |
G |
16: 32,488,952 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,956 (GRCm39) |
S306G |
possibly damaging |
Het |
| Tut1 |
T |
A |
19: 8,936,626 (GRCm39) |
V150D |
probably benign |
Het |
| Uchl5 |
T |
C |
1: 143,670,275 (GRCm39) |
F143L |
|
Het |
| Vmn1r23 |
T |
C |
6: 57,903,319 (GRCm39) |
K153R |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,698,798 (GRCm39) |
D94E |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,287,690 (GRCm39) |
Y414H |
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 |
|
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 |
|
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'- CTTTCTTACAGCCACACAGGACTC -3'
(R):5'- AAACAGGTGCAGAGGCCTAC -3'
Sequencing Primer
(F):5'- AGCCCCTGTACCAAGGCAG -3'
(R):5'- TACCTGTCCCCATACCAGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation