Incidental Mutation 'R7247:Srgap1'
ID 563623
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
MMRRC Submission 045310-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R7247 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121705695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 243 (Y243F)
Ref Sequence ENSEMBL: ENSMUSP00000020322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688]
AlphaFold Q91Z69
PDB Structure Crystal structure of srGAP1 SH3 domain in the slit-robo signaling pathway [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000020322
AA Change: Y243F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: Y243F

DomainStartEndE-ValueType
FCH 22 121 3.81e-16 SMART
low complexity region 173 193 N/A INTRINSIC
coiled coil region 352 382 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
RhoGAP 494 668 1.27e-64 SMART
SH3 723 778 1.57e-14 SMART
low complexity region 826 840 N/A INTRINSIC
low complexity region 1004 1014 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081688
AA Change: Y243F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: Y243F

DomainStartEndE-ValueType
FCH 22 121 3.81e-16 SMART
low complexity region 173 193 N/A INTRINSIC
coiled coil region 352 382 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
RhoGAP 517 691 1.27e-64 SMART
SH3 746 801 1.57e-14 SMART
low complexity region 849 863 N/A INTRINSIC
low complexity region 1027 1037 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,240,732 (GRCm39) E865G probably benign Het
Actrt2 A C 4: 154,751,880 (GRCm39) D85E probably benign Het
Ankrd55 A G 13: 112,472,787 (GRCm39) E153G probably damaging Het
Arfgef3 T A 10: 18,501,139 (GRCm39) H1037L probably benign Het
Camk2a A G 18: 61,076,277 (GRCm39) Y85C unknown Het
Caprin1 A T 2: 103,609,819 (GRCm39) V153E possibly damaging Het
Caskin2 G A 11: 115,692,722 (GRCm39) P688S probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ccdc116 T C 16: 16,957,555 (GRCm39) T535A possibly damaging Het
Cdh9 G A 15: 16,778,341 (GRCm39) R52H probably damaging Het
Cdk5rap2 A G 4: 70,255,666 (GRCm39) L406S probably damaging Het
Cep350 A G 1: 155,786,499 (GRCm39) M1449T probably damaging Het
Chst8 T A 7: 34,375,361 (GRCm39) K159N probably damaging Het
Dcdc2a A G 13: 25,286,374 (GRCm39) H136R probably benign Het
Dip2a C T 10: 76,108,366 (GRCm39) probably null Het
Dock2 G A 11: 34,605,340 (GRCm39) R260* probably null Het
Dscam A G 16: 96,622,008 (GRCm39) V481A probably damaging Het
E130308A19Rik A G 4: 59,690,502 (GRCm39) D112G probably damaging Het
Ezh2 T C 6: 47,510,708 (GRCm39) K634E probably damaging Het
Fcgr2b A G 1: 170,793,269 (GRCm39) probably null Het
Fgfrl1 T C 5: 108,851,365 (GRCm39) V94A possibly damaging Het
Gpr156 C A 16: 37,768,103 (GRCm39) N6K probably damaging Het
Gsdmc2 A T 15: 63,705,183 (GRCm39) F177I probably benign Het
Igkv4-54 T A 6: 69,608,842 (GRCm39) S26C probably damaging Het
Iglc3 T C 16: 18,884,191 (GRCm39) H80R Het
Immp1l G A 2: 105,767,401 (GRCm39) G87S probably damaging Het
Itgav A T 2: 83,555,179 (GRCm39) D34V probably damaging Het
Lrp1b G A 2: 41,159,224 (GRCm39) T1686I Het
Ltn1 T C 16: 87,206,275 (GRCm39) D935G probably benign Het
Map3k8 T C 18: 4,334,036 (GRCm39) D352G probably damaging Het
Map3k9 T C 12: 81,772,604 (GRCm39) K610E possibly damaging Het
Marchf4 G T 1: 72,491,637 (GRCm39) Y211* probably null Het
Marf1 A T 16: 13,944,957 (GRCm39) L1304Q probably damaging Het
Matcap1 A T 8: 106,011,331 (GRCm39) Y268N probably benign Het
Mecom A G 3: 30,194,505 (GRCm39) V5A unknown Het
Mep1a A T 17: 43,785,995 (GRCm39) V711D possibly damaging Het
Naca T A 10: 127,878,467 (GRCm39) D1166E unknown Het
Neb G T 2: 52,148,753 (GRCm39) P2598Q probably damaging Het
Notch4 A T 17: 34,791,491 (GRCm39) E546V probably damaging Het
Nudt18 A G 14: 70,815,422 (GRCm39) T12A unknown Het
Nvl A C 1: 180,939,851 (GRCm39) probably null Het
Obscn G T 11: 58,994,144 (GRCm39) C1579* probably null Het
Or4b13 G A 2: 90,083,165 (GRCm39) P56S probably damaging Het
Or51e2 T C 7: 102,391,551 (GRCm39) I220V probably damaging Het
Or6c5b T C 10: 129,246,051 (GRCm39) V272A probably damaging Het
Or7g33 A T 9: 19,448,629 (GRCm39) I199K probably benign Het
Or8g19 T A 9: 39,056,153 (GRCm39) Y252* probably null Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Paqr9 A G 9: 95,442,246 (GRCm39) T79A possibly damaging Het
Plec A T 15: 76,061,543 (GRCm39) V2798E probably damaging Het
Potefam3f A G 8: 20,479,022 (GRCm39) N10S Het
Ptpn4 A T 1: 119,617,764 (GRCm39) *557R probably null Het
Ptprt T C 2: 161,375,443 (GRCm39) E1379G probably benign Het
Rad18 G T 6: 112,642,286 (GRCm39) T327K possibly damaging Het
Rps2 T A 17: 24,939,554 (GRCm39) I75N possibly damaging Het
Scgb2b2 A T 7: 31,003,021 (GRCm39) R39W probably damaging Het
Sh3d21 A G 4: 126,045,908 (GRCm39) F307S probably benign Het
Snap91 A G 9: 86,674,669 (GRCm39) V507A unknown Het
Stim1 T A 7: 102,070,739 (GRCm39) probably null Het
Top2b T C 14: 16,416,962 (GRCm38) V1161A probably benign Het
Tpcn1 T C 5: 120,723,315 (GRCm39) D16G possibly damaging Het
Trank1 A T 9: 111,196,580 (GRCm39) I1535F probably damaging Het
Txnrd2 T C 16: 18,274,822 (GRCm39) F278L probably damaging Het
Ufl1 A T 4: 25,254,637 (GRCm39) D579E probably damaging Het
Vps45 T C 3: 95,948,717 (GRCm39) N346S probably benign Het
Vps51 T A 19: 6,127,419 (GRCm39) probably benign Het
Zfp536 T C 7: 37,268,631 (GRCm39) N262D probably benign Het
Zmynd10 A G 9: 107,425,976 (GRCm39) I103M possibly damaging Het
Zswim1 C T 2: 164,667,719 (GRCm39) H324Y possibly damaging Het
Zxdc T C 6: 90,361,155 (GRCm39) W507R unknown Het
Other mutations in Srgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01964:Srgap1 APN 10 121,640,871 (GRCm39) missense possibly damaging 0.81
IGL02106:Srgap1 APN 10 121,621,598 (GRCm39) missense possibly damaging 0.95
IGL02927:Srgap1 APN 10 121,691,367 (GRCm39) missense probably damaging 0.99
IGL03088:Srgap1 APN 10 121,661,598 (GRCm39) missense possibly damaging 0.94
IGL03208:Srgap1 APN 10 121,628,171 (GRCm39) missense possibly damaging 0.89
IGL03251:Srgap1 APN 10 121,640,826 (GRCm39) splice site probably null
PIT1430001:Srgap1 UTSW 10 121,732,658 (GRCm39) splice site probably benign
R0052:Srgap1 UTSW 10 121,636,732 (GRCm39) missense possibly damaging 0.94
R0052:Srgap1 UTSW 10 121,636,732 (GRCm39) missense possibly damaging 0.94
R0356:Srgap1 UTSW 10 121,691,441 (GRCm39) splice site probably null
R0361:Srgap1 UTSW 10 121,883,097 (GRCm39) start codon destroyed probably null 0.89
R0365:Srgap1 UTSW 10 121,621,610 (GRCm39) missense possibly damaging 0.80
R0675:Srgap1 UTSW 10 121,628,140 (GRCm39) missense probably damaging 1.00
R0801:Srgap1 UTSW 10 121,643,780 (GRCm39) missense probably damaging 0.96
R0815:Srgap1 UTSW 10 121,621,379 (GRCm39) missense probably damaging 0.99
R1034:Srgap1 UTSW 10 121,621,350 (GRCm39) missense possibly damaging 0.69
R1160:Srgap1 UTSW 10 121,691,382 (GRCm39) missense probably benign 0.01
R1454:Srgap1 UTSW 10 121,732,643 (GRCm39) missense probably damaging 0.99
R1624:Srgap1 UTSW 10 121,691,278 (GRCm39) missense probably benign 0.03
R1628:Srgap1 UTSW 10 121,706,244 (GRCm39) missense probably benign 0.15
R1816:Srgap1 UTSW 10 121,761,876 (GRCm39) nonsense probably null
R1933:Srgap1 UTSW 10 121,761,808 (GRCm39) missense possibly damaging 0.89
R2034:Srgap1 UTSW 10 121,628,651 (GRCm39) missense probably damaging 0.98
R2211:Srgap1 UTSW 10 121,689,645 (GRCm39) missense possibly damaging 0.55
R2295:Srgap1 UTSW 10 121,630,665 (GRCm39) missense probably benign 0.03
R2368:Srgap1 UTSW 10 121,665,194 (GRCm39) missense probably benign 0.05
R3796:Srgap1 UTSW 10 121,883,037 (GRCm39) missense probably benign 0.06
R4083:Srgap1 UTSW 10 121,621,595 (GRCm39) missense probably damaging 1.00
R4172:Srgap1 UTSW 10 121,691,268 (GRCm39) missense probably benign 0.00
R4322:Srgap1 UTSW 10 121,705,711 (GRCm39) missense probably damaging 1.00
R4401:Srgap1 UTSW 10 121,640,826 (GRCm39) splice site probably null
R4513:Srgap1 UTSW 10 121,706,231 (GRCm39) critical splice donor site probably null
R4698:Srgap1 UTSW 10 121,628,392 (GRCm39) missense probably benign 0.22
R4776:Srgap1 UTSW 10 121,628,256 (GRCm39) missense probably benign 0.03
R4951:Srgap1 UTSW 10 121,621,457 (GRCm39) missense probably benign 0.20
R5116:Srgap1 UTSW 10 121,628,284 (GRCm39) missense possibly damaging 0.77
R5232:Srgap1 UTSW 10 121,676,816 (GRCm39) missense probably benign 0.00
R5237:Srgap1 UTSW 10 121,643,788 (GRCm39) missense probably damaging 1.00
R5335:Srgap1 UTSW 10 121,621,282 (GRCm39) utr 3 prime probably benign
R5402:Srgap1 UTSW 10 121,621,665 (GRCm39) missense probably benign 0.06
R5432:Srgap1 UTSW 10 121,705,728 (GRCm39) missense probably damaging 1.00
R5456:Srgap1 UTSW 10 121,705,716 (GRCm39) missense probably benign 0.45
R5669:Srgap1 UTSW 10 121,640,755 (GRCm39) missense probably benign 0.00
R5682:Srgap1 UTSW 10 121,640,919 (GRCm39) missense probably damaging 1.00
R5687:Srgap1 UTSW 10 121,661,541 (GRCm39) missense probably damaging 1.00
R5773:Srgap1 UTSW 10 121,732,614 (GRCm39) missense probably benign 0.02
R5832:Srgap1 UTSW 10 121,676,819 (GRCm39) missense probably damaging 1.00
R6028:Srgap1 UTSW 10 121,664,635 (GRCm39) missense probably null
R6240:Srgap1 UTSW 10 121,883,061 (GRCm39) missense probably benign 0.06
R6336:Srgap1 UTSW 10 121,761,846 (GRCm39) missense probably benign 0.01
R6435:Srgap1 UTSW 10 121,636,732 (GRCm39) missense possibly damaging 0.94
R6597:Srgap1 UTSW 10 121,628,276 (GRCm39) missense probably benign 0.11
R6798:Srgap1 UTSW 10 121,761,809 (GRCm39) missense probably damaging 1.00
R6807:Srgap1 UTSW 10 121,664,631 (GRCm39) splice site probably null
R6897:Srgap1 UTSW 10 121,621,523 (GRCm39) missense probably damaging 0.96
R7057:Srgap1 UTSW 10 121,640,858 (GRCm39) missense probably benign 0.20
R7196:Srgap1 UTSW 10 121,676,753 (GRCm39) missense probably benign 0.00
R7404:Srgap1 UTSW 10 121,621,650 (GRCm39) missense probably benign 0.18
R7467:Srgap1 UTSW 10 121,691,344 (GRCm39) nonsense probably null
R7792:Srgap1 UTSW 10 121,761,872 (GRCm39) missense probably damaging 0.98
R7846:Srgap1 UTSW 10 121,621,397 (GRCm39) missense probably damaging 0.97
R7896:Srgap1 UTSW 10 121,689,458 (GRCm39) critical splice donor site probably benign
R7912:Srgap1 UTSW 10 121,689,458 (GRCm39) critical splice donor site probably benign
R8127:Srgap1 UTSW 10 121,691,271 (GRCm39) missense probably null 0.04
R8233:Srgap1 UTSW 10 121,661,341 (GRCm39) missense probably damaging 1.00
R8248:Srgap1 UTSW 10 121,640,722 (GRCm39) missense probably damaging 0.99
R8362:Srgap1 UTSW 10 121,691,383 (GRCm39) missense possibly damaging 0.46
R8885:Srgap1 UTSW 10 121,761,545 (GRCm39) intron probably benign
R9074:Srgap1 UTSW 10 121,628,257 (GRCm39) missense probably damaging 0.99
R9134:Srgap1 UTSW 10 121,883,127 (GRCm39) start gained probably benign
R9338:Srgap1 UTSW 10 121,689,458 (GRCm39) critical splice donor site probably benign
R9437:Srgap1 UTSW 10 121,636,777 (GRCm39) missense probably benign 0.18
R9629:Srgap1 UTSW 10 121,705,746 (GRCm39) missense probably benign 0.06
R9747:Srgap1 UTSW 10 121,761,771 (GRCm39) missense probably damaging 1.00
R9747:Srgap1 UTSW 10 121,628,579 (GRCm39) missense probably benign
X0063:Srgap1 UTSW 10 121,621,317 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCTTTTATCAGCTTTAGGACCAAG -3'
(R):5'- TCCACCAAGGACCTAAAGGG -3'

Sequencing Primer
(F):5'- AGGACCAAGCTTTTTCACATGC -3'
(R):5'- GATGACTTTGCTGTCTCTC -3'
Posted On 2019-06-26