Incidental Mutation 'R8772:Srgap3'
| ID |
664459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srgap3
|
| Ensembl Gene |
ENSMUSG00000030257 |
| Gene Name |
SLIT-ROBO Rho GTPase activating protein 3 |
| Synonyms |
Arhgap14, D130026O08Rik |
| MMRRC Submission |
068626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R8772 (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 A
at 112743906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 444
(K444I)
|
| 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 damaging
Transcript: ENSMUST00000088373
AA Change: K444I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: K444I
| 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: K444I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: K444I
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (83/83) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,827,903 (GRCm39) |
V574A |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,449 (GRCm39) |
Y20C |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,322,179 (GRCm39) |
D231V |
possibly damaging |
Het |
| Acp7 |
C |
T |
7: 28,315,909 (GRCm39) |
V226M |
probably damaging |
Het |
| Actr1a |
A |
G |
19: 46,370,731 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
C |
13: 70,984,453 (GRCm39) |
Y70C |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,119,958 (GRCm39) |
A1156T |
probably damaging |
Het |
| Ago1 |
A |
T |
4: 126,354,316 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,096,255 (GRCm39) |
E2377K |
probably damaging |
Het |
| Asic2 |
A |
G |
11: 81,858,713 (GRCm39) |
S100P |
probably benign |
Het |
| Atp1a1 |
A |
C |
3: 101,487,124 (GRCm39) |
V895G |
probably benign |
Het |
| B3gnt7 |
A |
G |
1: 86,233,294 (GRCm39) |
E180G |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,579,283 (GRCm39) |
F1805I |
|
Het |
| Cacna1g |
A |
G |
11: 94,356,713 (GRCm39) |
I141T |
probably benign |
Het |
| Ccdc162 |
A |
G |
10: 41,506,033 (GRCm39) |
L919P |
probably damaging |
Het |
| Cd47 |
A |
G |
16: 49,704,575 (GRCm39) |
I116V |
|
Het |
| Cdca2 |
A |
T |
14: 67,935,529 (GRCm39) |
D395E |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,304,389 (GRCm39) |
I2285N |
possibly damaging |
Het |
| Chil5 |
T |
C |
3: 105,925,536 (GRCm39) |
D157G |
probably damaging |
Het |
| Ciita |
A |
T |
16: 10,298,026 (GRCm39) |
I7F |
probably damaging |
Het |
| Dok7 |
G |
T |
5: 35,234,593 (GRCm39) |
G215C |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,729,659 (GRCm39) |
I88V |
probably null |
Het |
| Fasn |
A |
T |
11: 120,711,362 (GRCm39) |
D217E |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 92,027,400 (GRCm39) |
I1030N |
probably damaging |
Het |
| Fpr-rs6 |
T |
A |
17: 20,402,495 (GRCm39) |
N289Y |
probably damaging |
Het |
| Gm10392 |
C |
T |
11: 77,409,280 (GRCm39) |
V49I |
possibly damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,331,758 (GRCm39) |
M20K |
probably benign |
Het |
| Hoga1 |
A |
G |
19: 42,034,384 (GRCm39) |
M10V |
probably benign |
Het |
| Homer1 |
T |
A |
13: 93,528,239 (GRCm39) |
V258E |
probably damaging |
Het |
| Ifitm2 |
A |
G |
7: 140,535,803 (GRCm39) |
L9S |
probably benign |
Het |
| Iqgap3 |
G |
A |
3: 87,997,144 (GRCm39) |
A176T |
probably benign |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,812,077 (GRCm39) |
Q830* |
probably null |
Het |
| Macc1 |
T |
C |
12: 119,411,220 (GRCm39) |
W663R |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,372,418 (GRCm39) |
H159L |
probably benign |
Het |
| Mocs1 |
T |
A |
17: 49,757,402 (GRCm39) |
|
probably null |
Het |
| Ncoa1 |
T |
C |
12: 4,372,940 (GRCm39) |
T154A |
possibly damaging |
Het |
| Noxred1 |
A |
C |
12: 87,273,867 (GRCm39) |
L58R |
probably benign |
Het |
| Opcml |
T |
C |
9: 27,702,707 (GRCm39) |
V9A |
probably benign |
Het |
| Or51e2 |
G |
A |
7: 102,392,210 (GRCm39) |
|
probably benign |
Het |
| Or5ac23 |
A |
G |
16: 59,149,051 (GRCm39) |
S274P |
probably damaging |
Het |
| Or8c17 |
G |
A |
9: 38,180,231 (GRCm39) |
V133I |
probably benign |
Het |
| Otog |
A |
T |
7: 45,934,352 (GRCm39) |
R1303S |
probably damaging |
Het |
| Parp11 |
T |
A |
6: 127,468,667 (GRCm39) |
I322N |
probably damaging |
Het |
| Parp11 |
T |
A |
6: 127,447,726 (GRCm39) |
M20K |
possibly damaging |
Het |
| Pde1b |
T |
C |
15: 103,433,548 (GRCm39) |
|
probably benign |
Het |
| Pglyrp4 |
A |
T |
3: 90,647,707 (GRCm39) |
T356S |
possibly damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,628,596 (GRCm39) |
D963G |
probably damaging |
Het |
| Plod3 |
T |
C |
5: 137,017,773 (GRCm39) |
V183A |
probably damaging |
Het |
| Plxnb2 |
C |
T |
15: 89,046,949 (GRCm39) |
V791M |
probably damaging |
Het |
| Poc1b |
T |
A |
10: 98,992,219 (GRCm39) |
|
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,282,150 (GRCm39) |
T234A |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,065,463 (GRCm39) |
T1441I |
probably damaging |
Het |
| Rap1gap2 |
T |
C |
11: 74,296,551 (GRCm39) |
K479E |
probably damaging |
Het |
| Rars2 |
A |
G |
4: 34,623,488 (GRCm39) |
D63G |
probably benign |
Het |
| Rptor |
A |
C |
11: 119,615,858 (GRCm39) |
D124A |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,815,557 (GRCm39) |
R118L |
probably benign |
Het |
| Sap130 |
G |
C |
18: 31,813,517 (GRCm39) |
D525H |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,477 (GRCm39) |
N310D |
probably benign |
Het |
| Slc46a1 |
T |
G |
11: 78,356,777 (GRCm39) |
N58K |
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,134,284 (GRCm39) |
I1000N |
probably damaging |
Het |
| Son |
C |
T |
16: 91,454,826 (GRCm39) |
T1191I |
possibly damaging |
Het |
| Sppl2a |
T |
C |
2: 126,768,231 (GRCm39) |
K146E |
probably benign |
Het |
| Sun1 |
T |
C |
5: 139,209,447 (GRCm39) |
V59A |
probably benign |
Het |
| Sva |
T |
A |
6: 42,015,443 (GRCm39) |
Y37N |
probably benign |
Het |
| Taar8c |
T |
A |
10: 23,977,705 (GRCm39) |
M36L |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,968,909 (GRCm39) |
T682I |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 119,976,790 (GRCm39) |
H59Q |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,843,760 (GRCm39) |
Y746F |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,325,137 (GRCm39) |
S46G |
probably damaging |
Het |
| Tnfaip6 |
T |
A |
2: 51,941,077 (GRCm39) |
V206E |
possibly damaging |
Het |
| Tpbpb |
T |
A |
13: 61,049,193 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,768,025 (GRCm39) |
K3025* |
probably null |
Het |
| Tulp4 |
T |
A |
17: 6,227,168 (GRCm39) |
I106N |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,801,897 (GRCm39) |
F454Y |
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,402,345 (GRCm39) |
N95K |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,801,602 (GRCm39) |
R3539W |
|
Het |
| Vsnl1 |
T |
C |
12: 11,382,180 (GRCm39) |
H67R |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 75,062,692 (GRCm39) |
Y22H |
probably benign |
Het |
| Zeb1 |
A |
G |
18: 5,770,382 (GRCm39) |
|
probably null |
Het |
| Zfp142 |
A |
T |
1: 74,610,825 (GRCm39) |
L990Q |
possibly damaging |
Het |
| Zmiz1 |
G |
A |
14: 25,646,118 (GRCm39) |
G265D |
probably 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 |
|
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 |
|
|
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'- TGAAGGCACAAGAGTCCAGC -3'
(R):5'- TCCAACTTACAAGACCTGAGGATC -3'
Sequencing Primer
(F):5'- AAGAGTCCAGCATCAGGTCTTTC -3'
(R):5'- GGATCCCTAAGAATTAGCCACTTGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation