Incidental Mutation 'IGL02876:Srgap3'
ID 406229
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 # IGL02876
Quality Score
Status
Chromosome 6
Chromosomal Location 112694932-112924227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112748414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 413 (S413P)
Ref Sequence ENSEMBL: ENSMUSP00000108794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088373] [ENSMUST00000113169] [ENSMUST00000131835]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000060215
Predicted Effect probably damaging
Transcript: ENSMUST00000088373
AA Change: S413P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: S413P

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: S413P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: S413P

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
Predicted Effect probably benign
Transcript: ENSMUST00000131835
SMART Domains Protein: ENSMUSP00000130063
Gene: ENSMUSG00000030257

DomainStartEndE-ValueType
Blast:RhoGAP 1 33 2e-14 BLAST
transmembrane domain 69 91 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A G 4: 144,282,343 (GRCm39) Y150H probably damaging Het
Abcb5 A G 12: 118,883,576 (GRCm39) V564A probably damaging Het
Adamts15 A T 9: 30,815,818 (GRCm39) N679K probably damaging Het
Angpt1 T G 15: 42,290,373 (GRCm39) D497A possibly damaging Het
Asap2 A G 12: 21,308,164 (GRCm39) K849R probably benign Het
Aspm T C 1: 139,401,391 (GRCm39) V1137A probably damaging Het
Atp12a A G 14: 56,610,746 (GRCm39) I297V probably benign Het
Atp2a2 A G 5: 122,604,071 (GRCm39) V454A probably benign Het
Carmil1 T A 13: 24,338,651 (GRCm39) probably benign Het
Csmd2 A T 4: 128,215,128 (GRCm39) K517* probably null Het
Csmd3 A T 15: 47,469,492 (GRCm39) probably benign Het
Cyp2d11 T A 15: 82,273,697 (GRCm39) Q427L possibly damaging Het
Eml5 C T 12: 98,825,100 (GRCm39) V706M probably damaging Het
Entpd8 A C 2: 24,975,072 (GRCm39) S428R probably benign Het
Gm10283 T C 8: 60,954,253 (GRCm39) probably benign Het
Gpatch3 T A 4: 133,307,995 (GRCm39) V363E probably damaging Het
Hoxb5 T A 11: 96,194,594 (GRCm39) M52K probably damaging Het
Ift52 T C 2: 162,878,627 (GRCm39) V307A probably benign Het
Igkv1-115 T C 6: 68,138,424 (GRCm39) noncoding transcript Het
Kdm5a T C 6: 120,367,605 (GRCm39) probably benign Het
Lama1 T A 17: 68,057,687 (GRCm39) probably null Het
Lrp6 G A 6: 134,433,077 (GRCm39) P1418L probably benign Het
Mill2 T C 7: 18,590,432 (GRCm39) F156L probably damaging Het
Mnat1 A G 12: 73,217,378 (GRCm39) R85G probably damaging Het
Myrip A T 9: 120,261,740 (GRCm39) D451V probably damaging Het
Or1e1f A T 11: 73,855,539 (GRCm39) Y35F possibly damaging Het
Pdzph1 C A 17: 59,281,064 (GRCm39) S406I probably benign Het
Ptprb A G 10: 116,184,116 (GRCm39) probably benign Het
Rxfp4 T A 3: 88,559,742 (GRCm39) R236S possibly damaging Het
Ryr2 T C 13: 11,722,679 (GRCm39) M2604V probably benign Het
Setd1a G A 7: 127,377,673 (GRCm39) probably benign Het
Spata33 A T 8: 123,948,719 (GRCm39) H88L probably damaging Het
Spcs3 A T 8: 54,979,486 (GRCm39) N98K probably damaging Het
Stap2 T C 17: 56,306,961 (GRCm39) R239G probably benign Het
Surf6 A G 2: 26,782,638 (GRCm39) Y230H probably damaging Het
Tasp1 C T 2: 139,676,283 (GRCm39) V382M probably benign Het
Tnc G T 4: 63,933,338 (GRCm39) A642E possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r110 T A 17: 20,794,558 (GRCm39) T704S probably damaging Het
Vtcn1 A T 3: 100,791,145 (GRCm39) D61V probably damaging Het
Zc3h12d G A 10: 7,738,364 (GRCm39) M223I probably damaging Het
Zfp592 T A 7: 80,687,875 (GRCm39) S934T 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
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
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 2016-08-02