Incidental Mutation 'R1776:Srgap2'
ID 196986
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 039807-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1776 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 131212989-131455090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131339588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 125 (I125F)
Ref Sequence ENSEMBL: ENSMUSP00000139405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097588] [ENSMUST00000185445] [ENSMUST00000186543]
AlphaFold Q91Z67
Predicted Effect probably damaging
Transcript: ENSMUST00000097588
AA Change: I125F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: I125F

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 damaging
Transcript: ENSMUST00000185445
AA Change: I94F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140787
Gene: ENSMUSG00000026425
AA Change: I94F

DomainStartEndE-ValueType
FCH 4 89 6.3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186543
AA Change: I125F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: I125F

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 noncoding transcript
Transcript: ENSMUST00000189893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191427
Meta Mutation Damage Score 0.2326 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
Validation Efficiency 98% (86/88)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T C 10: 70,711,058 (GRCm39) noncoding transcript Het
9430097D07Rik T C 2: 32,464,767 (GRCm39) probably benign Het
A2m C G 6: 121,618,383 (GRCm39) F225L probably damaging Het
Adamts19 T A 18: 59,087,692 (GRCm39) I574N probably damaging Het
Ankfn1 T C 11: 89,417,300 (GRCm39) D104G possibly damaging Het
Ankhd1 T A 18: 36,780,361 (GRCm39) N1804K probably benign Het
Ankle1 G T 8: 71,861,918 (GRCm39) V474F probably damaging Het
Arfgap3 A G 15: 83,227,340 (GRCm39) V24A probably benign Het
Asph A T 4: 9,598,773 (GRCm39) S149R probably damaging Het
Cass4 A T 2: 172,269,615 (GRCm39) I568L probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdx1 G A 18: 61,169,086 (GRCm39) A36V probably benign Het
Cep57 A T 9: 13,730,170 (GRCm39) S123T probably damaging Het
Clca3a2 T A 3: 144,519,681 (GRCm39) Q231L probably damaging Het
Clcnkb T C 4: 141,142,500 (GRCm39) probably benign Het
Crabp2 C A 3: 87,860,301 (GRCm39) T125K probably benign Het
Dennd3 A G 15: 73,426,950 (GRCm39) T776A possibly damaging Het
Dnajb6 T C 5: 29,990,091 (GRCm39) probably benign Het
Dsp T A 13: 38,380,593 (GRCm39) I1847N probably damaging Het
Dync1h1 T C 12: 110,599,362 (GRCm39) probably benign Het
Ecpas A G 4: 58,879,100 (GRCm39) I63T probably damaging Het
Fbn1 A C 2: 125,163,654 (GRCm39) F2067L possibly damaging Het
Fbxo16 T A 14: 65,532,835 (GRCm39) probably null Het
Gm3604 C A 13: 62,517,888 (GRCm39) G157* probably null Het
Gm5250 A G 1: 13,132,564 (GRCm39) noncoding transcript Het
Gpam A G 19: 55,067,007 (GRCm39) S503P possibly damaging Het
Herc4 T A 10: 63,099,950 (GRCm39) C124* probably null Het
Ift27 T C 15: 78,050,181 (GRCm39) D76G probably null Het
Igdcc3 C T 9: 65,090,034 (GRCm39) Q550* probably null Het
Igsf6 T A 7: 120,667,522 (GRCm39) I165F probably damaging Het
Il31ra T C 13: 112,677,773 (GRCm39) I173M probably damaging Het
Kbtbd6 G A 14: 79,690,045 (GRCm39) D247N probably benign Het
Kcnq2 T A 2: 180,742,350 (GRCm39) T394S probably benign Het
Mia2 A G 12: 59,196,361 (GRCm39) probably benign Het
Mvp T C 7: 126,591,933 (GRCm39) Q419R probably benign Het
Mylk A G 16: 34,773,152 (GRCm39) D1250G probably benign Het
Necab1 A G 4: 15,111,267 (GRCm39) Y54H probably damaging Het
Nlk T A 11: 78,477,853 (GRCm39) M297L probably benign Het
Nsl1 G T 1: 190,795,385 (GRCm39) M50I probably benign Het
Numa1 A G 7: 101,660,257 (GRCm39) T441A probably damaging Het
Ofd1 A G X: 165,189,002 (GRCm39) Y755H probably benign Het
Or10d1c G A 9: 38,894,190 (GRCm39) S50F probably damaging Het
Or6c69b C T 10: 129,627,000 (GRCm39) V153I probably benign Het
Or8b12i G A 9: 20,082,105 (GRCm39) T254I probably benign Het
Ovgp1 A T 3: 105,885,114 (GRCm39) H151L possibly damaging Het
Pigz G A 16: 31,763,397 (GRCm39) E152K probably damaging Het
Plxna1 A T 6: 89,312,446 (GRCm39) D779E probably benign Het
Ppil4 A T 10: 7,686,201 (GRCm39) E353V probably benign Het
Ptprq C T 10: 107,520,950 (GRCm39) G741S probably damaging Het
Rplp0 T C 5: 115,700,524 (GRCm39) Y231H probably benign Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Rundc3b T C 5: 8,629,050 (GRCm39) E117G probably damaging Het
Ryr2 A C 13: 11,760,062 (GRCm39) probably null Het
Ryr3 A T 2: 112,787,598 (GRCm39) M198K probably damaging Het
Sdhd T C 9: 50,508,500 (GRCm39) K122R probably benign Het
Senp2 T C 16: 21,861,810 (GRCm39) probably benign Het
Setd3 C A 12: 108,131,420 (GRCm39) G2V probably damaging Het
Sfxn5 A G 6: 85,244,927 (GRCm39) probably benign Het
She T A 3: 89,739,345 (GRCm39) S179T possibly damaging Het
Slc24a2 G A 4: 87,094,526 (GRCm39) T331I probably benign Het
Slc45a3 T C 1: 131,904,694 (GRCm39) W6R possibly damaging Het
Slc9a4 T C 1: 40,668,447 (GRCm39) S697P probably benign Het
Soat1 C T 1: 156,269,991 (GRCm39) V143I probably benign Het
Sp8 T A 12: 118,813,302 (GRCm39) F386I probably damaging Het
Spata31d1b A G 13: 59,864,381 (GRCm39) T510A probably benign Het
Stab2 T A 10: 86,793,680 (GRCm39) I472F possibly damaging Het
Taar7f C T 10: 23,925,546 (GRCm39) R47C probably benign Het
Tbc1d19 T A 5: 54,046,653 (GRCm39) probably null Het
Tbc1d21 T A 9: 58,274,011 (GRCm39) probably benign Het
Tcaf1 A G 6: 42,655,389 (GRCm39) I529T possibly damaging Het
Tgfbr2 A T 9: 116,004,035 (GRCm39) I24N possibly damaging Het
Tgm1 T C 14: 55,946,854 (GRCm39) T385A probably damaging Het
Tgm2 T C 2: 157,973,379 (GRCm39) N244S probably benign Het
Thoc5 T C 11: 4,864,517 (GRCm39) probably benign Het
Tmc2 A T 2: 130,076,789 (GRCm39) I372F probably damaging Het
Tnrc6a A G 7: 122,770,520 (GRCm39) D222G probably damaging Het
Trhde T G 10: 114,636,508 (GRCm39) N233T probably benign Het
Tstd3 T C 4: 21,759,475 (GRCm39) Y99C probably damaging Het
Ttc22 A T 4: 106,496,237 (GRCm39) D429V possibly damaging Het
Ugcg A G 4: 59,207,775 (GRCm39) N38S probably benign Het
Ush2a A G 1: 188,460,400 (GRCm39) I2554V possibly damaging Het
Usp16 A G 16: 87,276,204 (GRCm39) D513G probably damaging Het
Vip T C 10: 5,594,992 (GRCm39) probably null Het
Vmn1r4 A G 6: 56,934,023 (GRCm39) I176V probably benign Het
Zfp804b T C 5: 6,819,806 (GRCm39) T1050A probably 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCCAAGAGGTTTCAAAGCACACAG -3'
(R):5'- AGCTCTGCCTGCTTGCTAACAC -3'

Sequencing Primer
(F):5'- CAGTGGAAAACCTGTTATGTGAGTC -3'
(R):5'- GCTTGCTAACACTTTTTTTTTCTTTG -3'
Posted On 2014-05-23