Incidental Mutation 'IGL02805:Srgap3'
ID 360370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srgap3
Ensembl Gene ENSMUSG00000030257
Gene Name SLIT-ROBO Rho GTPase activating protein 3
Synonyms Arhgap14, D130026O08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # IGL02805
Quality Score
Status
Chromosome 6
Chromosomal Location 112694932-112924227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 112704224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 922 (H922N)
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: H946N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: H946N

DomainStartEndE-ValueType
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: H922N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: H922N

DomainStartEndE-ValueType
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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) probably benign Het
Other mutations in Srgap3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-12-18