Incidental Mutation 'R6240:Srgap1'
ID 505186
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
MMRRC Submission 044364-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R6240 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121883061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 13 (I13T)
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 benign
Transcript: ENSMUST00000020322
AA Change: I13T

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: I13T

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 benign
Transcript: ENSMUST00000081688
AA Change: I13T

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: I13T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C A 14: 64,223,701 (GRCm39) R25L probably damaging Het
Adamts1 G A 16: 85,599,045 (GRCm39) S185L probably benign Het
Adamts12 A T 15: 11,286,044 (GRCm39) D751V probably benign Het
Adgrg3 A G 8: 95,766,544 (GRCm39) D405G probably benign Het
Ahi1 A G 10: 20,852,980 (GRCm39) D516G probably damaging Het
Ahnak A T 19: 8,990,947 (GRCm39) D4077V probably damaging Het
Arhgef18 G A 8: 3,489,658 (GRCm39) R330Q probably damaging Het
Arid1a A G 4: 133,407,997 (GRCm39) V2170A unknown Het
Asxl3 C T 18: 22,598,565 (GRCm39) L227F probably damaging Het
B3glct A G 5: 149,650,253 (GRCm39) I119V probably benign Het
Brd10 A T 19: 29,694,640 (GRCm39) S1618T probably benign Het
Cad T A 5: 31,230,322 (GRCm39) M1512K probably benign Het
Cdc25a A G 9: 109,713,226 (GRCm39) T172A probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Clmp A G 9: 40,693,707 (GRCm39) N308S probably damaging Het
Dlg5 A T 14: 24,199,596 (GRCm39) probably null Het
Dscam G A 16: 96,420,702 (GRCm39) T1728M probably damaging Het
E4f1 A G 17: 24,663,556 (GRCm39) S524P possibly damaging Het
Epha5 G C 5: 84,265,438 (GRCm39) A452G probably benign Het
Fzd3 T C 14: 65,447,304 (GRCm39) T542A probably damaging Het
Glyctk A T 9: 106,033,461 (GRCm39) probably null Het
Gm10382 G A 5: 125,466,660 (GRCm39) probably benign Het
Hnmt T A 2: 23,904,281 (GRCm39) M127L probably benign Het
Hoxc10 T A 15: 102,879,265 (GRCm39) W262R probably damaging Het
Icam5 T A 9: 20,944,454 (GRCm39) W52R possibly damaging Het
Jazf1 A T 6: 52,754,537 (GRCm39) C180S probably damaging Het
Kcnk2 A G 1: 188,975,179 (GRCm39) W286R probably damaging Het
Kcnmb2 C T 3: 32,236,045 (GRCm39) S98F probably damaging Het
Mob3a C G 10: 80,525,698 (GRCm39) E204D possibly damaging Het
Morc3 C G 16: 93,659,572 (GRCm39) H459D probably damaging Het
Mroh2b A T 15: 4,964,126 (GRCm39) N876I probably benign Het
Myo16 A T 8: 10,420,930 (GRCm39) T257S probably damaging Het
Nat1 A T 8: 67,944,354 (GRCm39) R243S possibly damaging Het
Nudt9 T C 5: 104,194,955 (GRCm39) V17A probably benign Het
Or13p8 A G 4: 118,583,668 (GRCm39) S75G probably benign Het
Or4c111 A G 2: 88,843,970 (GRCm39) I146T probably benign Het
Or4c11c A G 2: 88,661,707 (GRCm39) D82G probably benign Het
Or4m1 A G 14: 50,558,043 (GRCm39) V83A probably benign Het
Or6c70 C A 10: 129,710,546 (GRCm39) V27L probably benign Het
Pcdh7 T C 5: 57,878,704 (GRCm39) L753P probably damaging Het
Pcf11 T A 7: 92,295,710 (GRCm39) E1446D probably damaging Het
Pepd A G 7: 34,721,176 (GRCm39) I267V probably benign Het
Plk2 T A 13: 110,536,008 (GRCm39) Y571N probably damaging Het
Plk2 T A 13: 110,536,568 (GRCm39) V620E probably damaging Het
Prag1 T C 8: 36,570,506 (GRCm39) L363P probably benign Het
Psmd3 A G 11: 98,584,479 (GRCm39) T387A probably damaging Het
Ptgs1 G A 2: 36,127,297 (GRCm39) C61Y probably damaging Het
Rab18 T C 18: 6,784,635 (GRCm39) Y109H probably benign Het
Robo2 G A 16: 73,779,027 (GRCm39) P358L probably damaging Het
Smarcc2 C T 10: 128,323,893 (GRCm39) probably benign Het
Spata31e4 G A 13: 50,855,453 (GRCm39) D364N probably damaging Het
Tcf12 T A 9: 71,851,298 (GRCm39) K110* probably null Het
Tdrd1 T C 19: 56,829,767 (GRCm39) S214P probably benign Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Tmem255b A G 8: 13,504,216 (GRCm39) Y136C probably damaging Het
Tmem63c A T 12: 87,123,179 (GRCm39) I448F possibly damaging Het
Tnpo1 T C 13: 99,000,337 (GRCm39) I335M probably damaging Het
Vmn1r1 T C 1: 181,985,186 (GRCm39) T160A probably damaging Het
Vmn1r203 A G 13: 22,708,899 (GRCm39) N227D possibly damaging Het
Vmn2r6 T A 3: 64,464,226 (GRCm39) S203C probably damaging Het
Zfp628 A G 7: 4,922,848 (GRCm39) T357A possibly damaging Het
Zfp872 A G 9: 22,111,180 (GRCm39) K220E 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
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
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'- TTAGGACTGGCTTAGAGGACG -3'
(R):5'- TCTCAACAATGGTGCGCGAC -3'

Sequencing Primer
(F):5'- TGGCTTAGAGGACGCCCTG -3'
(R):5'- AGTTTGCTCGGCTGGCCTC -3'
Posted On 2018-02-28