Incidental Mutation 'R9616:Srgap2'
ID 724551
Institutional Source Beutler Lab
Gene Symbol Srgap2
Ensembl Gene ENSMUSG00000026425
Gene Name SLIT-ROBO Rho GTPase activating protein 2
Synonyms Fnbp2, 9930124L22Rik, FBP2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9616 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 131212989-131455090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131252828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 132 (H132L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097588] [ENSMUST00000185596] [ENSMUST00000186543]
AlphaFold Q91Z67
Predicted Effect probably damaging
Transcript: ENSMUST00000097588
AA Change: H518L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: H518L

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
AA Change: H377L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: H377L

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 probably benign
Transcript: ENSMUST00000186543
AA Change: H518L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: H518L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040M04Rik T A 1: 151,080,480 (GRCm39) D189E probably benign Het
Abca13 A T 11: 9,240,501 (GRCm39) H788L probably benign Het
Abcb1b A G 5: 8,862,779 (GRCm39) I154V probably benign Het
Acsm4 A G 7: 119,293,872 (GRCm39) N81S probably benign Het
Adamts5 G A 16: 85,659,674 (GRCm39) H873Y probably benign Het
Aox4 C T 1: 58,268,020 (GRCm39) T200I possibly damaging Het
Arhgap33 A G 7: 30,229,367 (GRCm39) V336A probably damaging Het
Brca1 C T 11: 101,416,683 (GRCm39) E484K probably damaging Het
Capn13 T A 17: 73,672,964 (GRCm39) D113V probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,892,078 (GRCm39) E274K Het
Cfh A T 1: 140,030,254 (GRCm39) I891K probably damaging Het
Cgn A G 3: 94,670,332 (GRCm39) S1041P probably damaging Het
Cldn18 T C 9: 99,580,915 (GRCm39) D111G probably benign Het
Cnp G A 11: 100,467,261 (GRCm39) R68Q probably benign Het
Cntn4 T A 6: 106,674,525 (GRCm39) C1008* probably null Het
Cntnap5a T C 1: 116,029,323 (GRCm39) I259T probably benign Het
Cubn A G 2: 13,319,529 (GRCm39) I2897T probably benign Het
Cyp2c39 T A 19: 39,501,648 (GRCm39) L67Q probably damaging Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddc C T 11: 11,772,288 (GRCm39) W349* probably null Het
Dennd3 A G 15: 73,440,563 (GRCm39) E1198G probably benign Het
Dnah1 T C 14: 31,026,400 (GRCm39) D826G probably null Het
Dpp4 T C 2: 62,217,429 (GRCm39) Y56C probably damaging Het
Etv6 A G 6: 134,243,295 (GRCm39) D350G possibly damaging Het
Fat1 C A 8: 45,406,075 (GRCm39) P942Q probably damaging Het
Fbxl5 A G 5: 43,916,159 (GRCm39) F418L probably benign Het
Fbxo11 T A 17: 88,316,098 (GRCm39) H368L Het
Fhl2 G T 1: 43,167,546 (GRCm39) H182Q probably damaging Het
Gabpa T A 16: 84,649,461 (GRCm39) C223S probably damaging Het
Gigyf2 T C 1: 87,356,326 (GRCm39) I803T unknown Het
Greb1 A T 12: 16,790,038 (GRCm39) N3K probably damaging Het
Hmcn1 T G 1: 150,684,473 (GRCm39) S366R probably benign Het
Il17b A G 18: 61,825,363 (GRCm39) Q133R probably benign Het
Inha T A 1: 75,486,211 (GRCm39) S169T probably benign Het
Itsn1 G A 16: 91,650,055 (GRCm39) R243H probably benign Het
Kcnu1 G GA 8: 26,403,675 (GRCm39) probably null Het
Kdm1b A G 13: 47,234,030 (GRCm39) E788G probably damaging Het
Kdm2a A T 19: 4,370,308 (GRCm39) I1059N probably damaging Het
Klk1b9 G T 7: 43,628,795 (GRCm39) G100C probably benign Het
Knl1 T C 2: 118,899,994 (GRCm39) V565A probably benign Het
Knl1 A T 2: 118,907,425 (GRCm39) N1650Y probably damaging Het
Lpp T C 16: 24,580,719 (GRCm39) V270A probably benign Het
Lrrc15 A G 16: 30,092,517 (GRCm39) L274P probably damaging Het
Mertk C T 2: 128,643,255 (GRCm39) L885F probably benign Het
Mpst T A 15: 78,294,361 (GRCm39) L31* probably null Het
Ms4a10 T C 19: 10,944,440 (GRCm39) T115A possibly damaging Het
Myof A G 19: 37,923,263 (GRCm39) I1330T possibly damaging Het
Ncam2 T C 16: 81,240,142 (GRCm39) I201T probably damaging Het
Nefh T A 11: 4,889,443 (GRCm39) K1059* probably null Het
Nek1 T C 8: 61,473,107 (GRCm39) Y168H probably damaging Het
Nek11 T A 9: 105,082,011 (GRCm39) T531S probably damaging Het
Nelfa G A 5: 34,059,127 (GRCm39) P243S possibly damaging Het
Niban1 T C 1: 151,512,193 (GRCm39) Y32H probably damaging Het
Notum G T 11: 120,550,974 (GRCm39) T64K Het
Or13c7d T A 4: 43,770,193 (GRCm39) K273* probably null Het
Or52b2 A C 7: 104,986,520 (GRCm39) Y134* probably null Het
Or9i16 A G 19: 13,864,861 (GRCm39) S238P probably damaging Het
Otof A G 5: 30,539,708 (GRCm39) I1035T possibly damaging Het
Otud3 A G 4: 138,624,925 (GRCm39) Y259H probably benign Het
Per1 G T 11: 68,993,554 (GRCm39) C368F probably damaging Het
Pitrm1 G T 13: 6,605,602 (GRCm39) R183L probably damaging Het
Prl3a1 C T 13: 27,459,118 (GRCm39) A119V Het
Pycard C T 7: 127,592,776 (GRCm39) G17E probably benign Het
Rnf13 A G 3: 57,740,430 (GRCm39) D249G possibly damaging Het
Sdhaf2 T C 19: 10,494,689 (GRCm39) Y33C probably damaging Het
Sdk2 A G 11: 113,691,061 (GRCm39) V1838A probably benign Het
Sgo2b C T 8: 64,380,274 (GRCm39) V853I probably benign Het
Slc1a4 T C 11: 20,282,403 (GRCm39) T24A probably benign Het
Slc8a1 T C 17: 81,955,407 (GRCm39) T544A probably benign Het
Sntg2 T C 12: 30,326,732 (GRCm39) N143S probably benign Het
Sphkap T C 1: 83,254,989 (GRCm39) E920G probably damaging Het
Srgap3 A T 6: 112,748,524 (GRCm39) V376D probably damaging Het
Stxbp5l T C 16: 37,036,314 (GRCm39) K434E probably damaging Het
Tab2 A T 10: 7,795,005 (GRCm39) N492K possibly damaging Het
Tbc1d32 T C 10: 56,037,246 (GRCm39) Q666R possibly damaging Het
Tekt4 T C 17: 25,692,782 (GRCm39) probably null Het
Tnni3k G A 3: 154,667,724 (GRCm39) Q230* probably null Het
Trp53bp1 A C 2: 121,066,657 (GRCm39) S690A probably benign Het
Trpa1 C A 1: 14,989,077 (GRCm39) probably benign Het
Trpm1 T G 7: 63,858,132 (GRCm39) V324G probably damaging Het
Usp29 A G 7: 6,966,179 (GRCm39) E674G possibly damaging Het
Vmn2r59 T C 7: 41,661,299 (GRCm39) R839G probably damaging Het
Vmn2r6 A G 3: 64,445,724 (GRCm39) L667P probably damaging Het
Vmn2r91 T A 17: 18,356,305 (GRCm39) F657L possibly damaging Het
Vps13d A G 4: 144,824,701 (GRCm39) V2923A Het
Xylb T A 9: 119,201,022 (GRCm39) L220Q probably damaging Het
Zbtb10 C T 3: 9,316,473 (GRCm39) T95M probably benign Het
Zfp263 C T 16: 3,567,482 (GRCm39) P599L probably damaging Het
Zfp532 A G 18: 65,789,639 (GRCm39) E1026G probably benign Het
Zfp78 A G 7: 6,382,078 (GRCm39) N376S probably benign 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
IGL02028:Srgap2 APN 1 131,224,173 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- GGGAAGGCAATCTCTCTTCTC -3'
(R):5'- GCATCAATGAACAGTCAGGC -3'

Sequencing Primer
(F):5'- CCTTGAACTGGATCTTACAGGAC -3'
(R):5'- GTCAGGCTGGGGGCGAC -3'
Posted On 2022-09-12