Incidental Mutation 'IGL02028:Srgap2'
ID 184281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srgap2
Ensembl Gene ENSMUSG00000026425
Gene Name SLIT-ROBO Rho GTPase activating protein 2
Synonyms Fnbp2, 9930124L22Rik, FBP2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02028
Quality Score
Status
Chromosome 1
Chromosomal Location 131212989-131455090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131224173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 92 (K92E)
Ref Sequence ENSEMBL: ENSMUSP00000140927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097588] [ENSMUST00000185596] [ENSMUST00000186543] [ENSMUST00000187042]
AlphaFold Q91Z67
Predicted Effect probably benign
Transcript: ENSMUST00000097588
AA Change: K798E

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: K798E

DomainStartEndE-ValueType
FCH 22 120 7.33e-18 SMART
low complexity region 178 191 N/A INTRINSIC
coiled coil region 363 401 N/A INTRINSIC
Blast:RhoGAP 445 490 7e-12 BLAST
RhoGAP 502 676 9.6e-60 SMART
SH3 731 786 4.52e-15 SMART
low complexity region 852 868 N/A INTRINSIC
coiled coil region 940 967 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185596
SMART Domains Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425

DomainStartEndE-ValueType
low complexity region 37 50 N/A INTRINSIC
coiled coil region 222 260 N/A INTRINSIC
Blast:RhoGAP 304 349 5e-12 BLAST
RhoGAP 361 535 5.9e-62 SMART
SH3 590 645 2.8e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000186543
AA Change: K798E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: K798E

DomainStartEndE-ValueType
FCH 22 120 3.7e-20 SMART
low complexity region 178 191 N/A INTRINSIC
coiled coil region 363 401 N/A INTRINSIC
Blast:RhoGAP 445 490 7e-12 BLAST
RhoGAP 502 676 5.9e-62 SMART
SH3 731 786 2.8e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187042
AA Change: K92E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140927
Gene: ENSMUSG00000026425
AA Change: K92E

DomainStartEndE-ValueType
SH3 25 80 2.8e-17 SMART
low complexity region 146 162 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188604
Predicted Effect unknown
Transcript: ENSMUST00000188770
AA Change: K412E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190336
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are born at below the expected Mendelian ratio, but are otherwise viable. Layer 5 cortical pyramidal neurons exhibit an increased density of dendritic spines with a decreased spine head width and increased length of spine necks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,473,442 (GRCm39) Y53C probably damaging Het
Acacb T A 5: 114,304,076 (GRCm39) D166E probably damaging Het
Akap8l T C 17: 32,557,495 (GRCm39) probably null Het
Arl6ip5 A G 6: 97,206,611 (GRCm39) Y97C probably damaging Het
Atad5 T A 11: 80,024,936 (GRCm39) S1772R probably benign Het
Ccdc106 A G 7: 5,062,645 (GRCm39) Q155R probably damaging Het
Ccdc33 T C 9: 57,983,861 (GRCm39) N446S probably benign Het
Cdh2 T C 18: 16,783,477 (GRCm39) D84G probably benign Het
Cntn6 A G 6: 104,836,387 (GRCm39) K918E probably damaging Het
Dock6 T C 9: 21,750,122 (GRCm39) D521G probably damaging Het
Dync2i1 C A 12: 116,219,681 (GRCm39) R87L probably benign Het
Etv6 C T 6: 134,225,696 (GRCm39) A309V probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Figla T C 6: 85,994,345 (GRCm39) L40P probably damaging Het
Gabra4 T A 5: 71,790,939 (GRCm39) Q301L probably damaging Het
Glt1d1 G A 5: 127,783,984 (GRCm39) V313M possibly damaging Het
Gm28778 T A 1: 53,357,120 (GRCm39) I94K possibly damaging Het
Gm4847 T C 1: 166,469,765 (GRCm39) K103E probably benign Het
Gne A G 4: 44,066,852 (GRCm39) S23P probably damaging Het
Hipk2 A G 6: 38,795,691 (GRCm39) C186R possibly damaging Het
Lrp1b C T 2: 41,401,464 (GRCm39) V283I probably damaging Het
Mcm10 A T 2: 5,013,511 (GRCm39) D40E possibly damaging Het
Morc2b T A 17: 33,356,387 (GRCm39) I462F possibly damaging Het
Myh1 T A 11: 67,101,441 (GRCm39) I711N probably damaging Het
Oit3 A G 10: 59,274,477 (GRCm39) F108L probably damaging Het
Or4f4b T C 2: 111,313,816 (GRCm39) F14L probably benign Het
Or8b49 T A 9: 38,505,715 (GRCm39) L66* probably null Het
Polr1g T C 7: 19,091,003 (GRCm39) K368R probably damaging Het
Rbm19 A G 5: 120,258,301 (GRCm39) D172G probably damaging Het
Ribc2 A G 15: 85,027,536 (GRCm39) D339G possibly damaging Het
Rras2 C A 7: 113,659,597 (GRCm39) V56L probably benign Het
Scn2a A G 2: 65,594,002 (GRCm39) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,030 (GRCm39) M236L probably benign Het
Snrnp27 C T 6: 86,659,955 (GRCm39) R13H unknown Het
Suco T C 1: 161,684,428 (GRCm39) K231E possibly damaging Het
Tll2 C A 19: 41,087,088 (GRCm39) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm39) I6L possibly damaging Het
Tnc A C 4: 63,884,909 (GRCm39) probably benign Het
Tob1 G A 11: 94,105,052 (GRCm39) G196D probably benign Het
Ubtfl1 T A 9: 18,320,849 (GRCm39) Y126N possibly damaging Het
Uck1 G T 2: 32,148,149 (GRCm39) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,205,469 (GRCm39) noncoding transcript Het
Vmn1r88 C T 7: 12,911,719 (GRCm39) S25L probably benign Het
Vmn2r109 T G 17: 20,761,342 (GRCm39) I672L probably benign Het
Vmn2r23 T C 6: 123,718,819 (GRCm39) F724S probably damaging Het
Vmn2r54 A T 7: 12,366,088 (GRCm39) F282Y probably damaging Het
Vmn2r82 A T 10: 79,215,057 (GRCm39) I347F probably benign Het
Wasf2 G A 4: 132,923,112 (GRCm39) R474H probably damaging Het
Zmym5 T C 14: 57,041,617 (GRCm39) H162R possibly damaging Het
Other mutations in Srgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00677:Srgap2 APN 1 131,284,438 (GRCm39) missense possibly damaging 0.89
IGL01738:Srgap2 APN 1 131,224,164 (GRCm39) missense probably benign 0.00
IGL01933:Srgap2 APN 1 131,339,593 (GRCm39) missense probably damaging 1.00
IGL01964:Srgap2 APN 1 131,217,316 (GRCm39) missense probably benign 0.08
IGL02159:Srgap2 APN 1 131,247,404 (GRCm39) splice site probably benign
IGL02326:Srgap2 APN 1 131,284,645 (GRCm39) critical splice acceptor site probably null
IGL02396:Srgap2 APN 1 131,220,413 (GRCm39) missense probably damaging 0.99
IGL02407:Srgap2 APN 1 131,247,340 (GRCm39) missense probably damaging 1.00
IGL02444:Srgap2 APN 1 131,252,891 (GRCm39) splice site probably null
IGL02559:Srgap2 APN 1 131,452,674 (GRCm39) critical splice donor site probably null
IGL02900:Srgap2 APN 1 131,339,534 (GRCm39) splice site probably benign
IGL03150:Srgap2 APN 1 131,238,338 (GRCm39) missense probably damaging 1.00
R0008:Srgap2 UTSW 1 131,283,302 (GRCm39) missense probably damaging 0.99
R0008:Srgap2 UTSW 1 131,283,302 (GRCm39) missense probably damaging 0.99
R0016:Srgap2 UTSW 1 131,277,200 (GRCm39) missense possibly damaging 0.95
R0016:Srgap2 UTSW 1 131,277,200 (GRCm39) missense possibly damaging 0.95
R0044:Srgap2 UTSW 1 131,247,289 (GRCm39) missense possibly damaging 0.68
R0441:Srgap2 UTSW 1 131,264,175 (GRCm39) missense probably damaging 1.00
R0580:Srgap2 UTSW 1 131,277,239 (GRCm39) missense possibly damaging 0.81
R0882:Srgap2 UTSW 1 131,217,253 (GRCm39) missense probably benign 0.00
R1412:Srgap2 UTSW 1 131,228,151 (GRCm39) missense possibly damaging 0.81
R1501:Srgap2 UTSW 1 131,220,437 (GRCm39) missense probably damaging 1.00
R1740:Srgap2 UTSW 1 131,217,126 (GRCm39) missense probably benign 0.00
R1764:Srgap2 UTSW 1 131,247,275 (GRCm39) missense possibly damaging 0.94
R1772:Srgap2 UTSW 1 131,247,376 (GRCm39) missense probably damaging 0.99
R1776:Srgap2 UTSW 1 131,339,588 (GRCm39) missense probably damaging 1.00
R2393:Srgap2 UTSW 1 131,259,872 (GRCm39) missense probably benign 0.00
R3011:Srgap2 UTSW 1 131,238,329 (GRCm39) missense probably damaging 0.99
R3149:Srgap2 UTSW 1 131,220,327 (GRCm39) missense probably benign 0.00
R3150:Srgap2 UTSW 1 131,220,327 (GRCm39) missense probably benign 0.00
R3800:Srgap2 UTSW 1 131,238,297 (GRCm39) missense probably damaging 1.00
R4871:Srgap2 UTSW 1 131,217,210 (GRCm39) missense probably benign 0.00
R4884:Srgap2 UTSW 1 131,220,314 (GRCm39) splice site probably null
R5454:Srgap2 UTSW 1 131,217,475 (GRCm39) missense probably benign 0.08
R5536:Srgap2 UTSW 1 131,228,128 (GRCm39) splice site probably null
R6113:Srgap2 UTSW 1 131,283,243 (GRCm39) splice site probably null
R6174:Srgap2 UTSW 1 131,217,354 (GRCm39) missense probably benign 0.00
R6180:Srgap2 UTSW 1 131,277,279 (GRCm39) missense probably benign 0.00
R6341:Srgap2 UTSW 1 131,219,367 (GRCm39) missense probably benign 0.02
R6357:Srgap2 UTSW 1 131,283,280 (GRCm39) missense probably damaging 1.00
R6363:Srgap2 UTSW 1 131,226,206 (GRCm39) missense probably damaging 1.00
R6770:Srgap2 UTSW 1 131,226,248 (GRCm39) missense probably benign 0.00
R6934:Srgap2 UTSW 1 131,244,969 (GRCm39) missense possibly damaging 0.81
R7007:Srgap2 UTSW 1 131,247,275 (GRCm39) missense probably benign 0.15
R7077:Srgap2 UTSW 1 131,272,187 (GRCm39) missense
R7147:Srgap2 UTSW 1 131,238,332 (GRCm39) missense
R7326:Srgap2 UTSW 1 131,219,351 (GRCm39) nonsense probably null
R7467:Srgap2 UTSW 1 131,220,405 (GRCm39) missense probably damaging 0.97
R7500:Srgap2 UTSW 1 131,364,569 (GRCm39) missense probably damaging 1.00
R7579:Srgap2 UTSW 1 131,220,371 (GRCm39) missense probably damaging 0.99
R7923:Srgap2 UTSW 1 131,228,151 (GRCm39) missense possibly damaging 0.81
R7989:Srgap2 UTSW 1 131,226,170 (GRCm39) missense
R8283:Srgap2 UTSW 1 131,291,771 (GRCm39) missense probably damaging 0.99
R8708:Srgap2 UTSW 1 131,273,544 (GRCm39) nonsense probably null
R8784:Srgap2 UTSW 1 131,223,212 (GRCm39) missense unknown
R8970:Srgap2 UTSW 1 131,226,104 (GRCm39) missense
R9001:Srgap2 UTSW 1 131,291,798 (GRCm39) missense probably damaging 1.00
R9006:Srgap2 UTSW 1 131,283,307 (GRCm39) missense probably damaging 1.00
R9382:Srgap2 UTSW 1 131,217,346 (GRCm39) missense probably benign
R9389:Srgap2 UTSW 1 131,283,365 (GRCm39) missense probably damaging 0.96
R9599:Srgap2 UTSW 1 131,272,164 (GRCm39) missense
R9616:Srgap2 UTSW 1 131,252,828 (GRCm39) missense
X0022:Srgap2 UTSW 1 131,339,687 (GRCm39) missense probably benign 0.01
Z1177:Srgap2 UTSW 1 131,283,248 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07