Incidental Mutation 'R1454:Srgap1'
ID 162213
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
MMRRC Submission 039509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R1454 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121732643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 145 (E145V)
Ref Sequence ENSEMBL: ENSMUSP00000080389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688]
AlphaFold Q91Z69
Predicted Effect probably damaging
Transcript: ENSMUST00000020322
AA Change: E145V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: E145V

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: E145V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: E145V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162710
Meta Mutation Damage Score 0.3690 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,666,881 (GRCm39) V537A possibly damaging Het
Adcy10 A T 1: 165,342,949 (GRCm39) I272F possibly damaging Het
Adcy6 A G 15: 98,502,609 (GRCm39) S2P probably damaging Het
Agap1 A G 1: 89,765,528 (GRCm39) probably null Het
Aldh3a2 A G 11: 61,155,928 (GRCm39) V116A probably benign Het
Ankdd1b A T 13: 96,569,913 (GRCm39) probably null Het
Antxrl G A 14: 33,782,906 (GRCm39) V233I probably damaging Het
Atp8b5 A G 4: 43,302,590 (GRCm39) I38V probably benign Het
Atxn7l2 A G 3: 108,115,748 (GRCm39) probably benign Het
Bfsp2 A T 9: 103,357,424 (GRCm39) M1K probably null Het
Camsap3 T A 8: 3,653,968 (GRCm39) I520N possibly damaging Het
Cenpc1 C T 5: 86,161,369 (GRCm39) V854I possibly damaging Het
Csnk2a1 T C 2: 152,099,347 (GRCm39) L88S probably damaging Het
Dcaf17 A G 2: 70,903,517 (GRCm39) N171D probably damaging Het
Dctn1 G C 6: 83,174,490 (GRCm39) A1077P possibly damaging Het
Dock1 T C 7: 134,453,338 (GRCm39) probably benign Het
Egfr A T 11: 16,839,920 (GRCm39) I645L probably benign Het
Gdpd1 T G 11: 86,950,335 (GRCm39) K79N possibly damaging Het
Ggt5 A T 10: 75,445,742 (GRCm39) L432F probably benign Het
Gm11060 A G 2: 104,924,097 (GRCm39) T22A unknown Het
Gpr132 G A 12: 112,815,860 (GRCm39) T322I possibly damaging Het
Grin1 G A 2: 25,182,442 (GRCm39) R940* probably null Het
Hip1 T C 5: 135,467,486 (GRCm39) T316A probably benign Het
Hnrnpm A G 17: 33,885,462 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,846 (GRCm39) T200I probably benign Het
Hspa9 A T 18: 35,071,659 (GRCm39) L647H probably damaging Het
Itgad T C 7: 127,791,309 (GRCm39) I727T probably benign Het
Kcnma1 T C 14: 23,513,268 (GRCm39) D522G probably damaging Het
Lipf C T 19: 33,948,132 (GRCm39) probably benign Het
Ly6i T C 15: 74,854,904 (GRCm39) D2G possibly damaging Het
Mast1 G A 8: 85,647,264 (GRCm39) P631L probably damaging Het
Mmp1b G C 9: 7,386,693 (GRCm39) L144V probably damaging Het
Msh6 A G 17: 88,292,186 (GRCm39) S314G probably benign Het
Myo5c G A 9: 75,170,348 (GRCm39) V493I possibly damaging Het
Nefm A G 14: 68,358,828 (GRCm39) L402P probably damaging Het
Nrxn2 T C 19: 6,531,476 (GRCm39) F697S probably damaging Het
Or13c7b A T 4: 43,820,639 (GRCm39) C241S probably damaging Het
Pex13 A G 11: 23,599,422 (GRCm39) I363T probably benign Het
Plcb3 T C 19: 6,932,414 (GRCm39) R1082G possibly damaging Het
Psg28 A T 7: 18,161,889 (GRCm39) S205T possibly damaging Het
Pxt1 C A 17: 29,153,756 (GRCm39) V26L possibly damaging Het
Ripk2 G A 4: 16,163,239 (GRCm39) T53M probably damaging Het
Slc5a9 A G 4: 111,741,161 (GRCm39) V495A probably benign Het
Snrpa T C 7: 26,892,362 (GRCm39) K66R probably benign Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tatdn2 T A 6: 113,681,288 (GRCm39) D440E probably benign Het
Tbc1d21 A G 9: 58,270,096 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,034 (GRCm39) Y570* probably null Het
Tbc1d32 A T 10: 56,053,575 (GRCm39) probably benign Het
Tdrd5 G C 1: 156,087,406 (GRCm39) Q839E probably benign Het
Tecpr2 A G 12: 110,935,387 (GRCm39) N1402S probably benign Het
Thbs1 A G 2: 117,953,153 (GRCm39) D921G probably damaging Het
Tll1 A G 8: 64,491,524 (GRCm39) V803A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm4 T C 7: 44,966,480 (GRCm39) E461G probably damaging Het
Zp3 T A 5: 136,013,042 (GRCm39) I152N probably damaging 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
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
R7247:Srgap1 UTSW 10 121,705,695 (GRCm39) missense probably damaging 0.98
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'- AGATTTAACAAGAAGAGCGTCCGCC -3'
(R):5'- CATGACACTTCACCCTGTGTAAGCC -3'

Sequencing Primer
(F):5'- CAACACTACGGCTTGGAGG -3'
(R):5'- ggggggCATCAGGCAAC -3'
Posted On 2014-03-14