Incidental Mutation 'R5335:Srgap1'
ID 423484
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
MMRRC Submission 042916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R5335 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) C to T at 121621282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688]
AlphaFold Q91Z69
Predicted Effect probably benign
Transcript: ENSMUST00000020322
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121

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
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121

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: ENSMUST00000161996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188932
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010003K11Rik A G 19: 4,548,292 (GRCm39) W86R probably damaging Het
Ankrd6 T C 4: 32,818,651 (GRCm39) E225G probably damaging Het
Atxn10 A G 15: 85,220,785 (GRCm39) probably null Het
Bcas2 A G 3: 103,082,951 (GRCm39) I146V probably damaging Het
C2cd6 T A 1: 59,043,393 (GRCm39) noncoding transcript Het
Cachd1 G A 4: 100,825,282 (GRCm39) V579I possibly damaging Het
Col11a1 A G 3: 113,888,889 (GRCm39) T311A unknown Het
Cyp2c50 A T 19: 40,079,060 (GRCm39) L134F probably benign Het
Cyp2j11 T C 4: 96,195,589 (GRCm39) H369R probably damaging Het
Dis3 A G 14: 99,335,089 (GRCm39) V171A possibly damaging Het
Dnah12 A G 14: 26,601,695 (GRCm39) N3718D probably damaging Het
Dnah17 T C 11: 118,003,340 (GRCm39) I541V probably damaging Het
Eif3i T C 4: 129,488,979 (GRCm39) D86G probably benign Het
Epc1 C T 18: 6,490,689 (GRCm39) probably benign Het
Epc2 A G 2: 49,403,242 (GRCm39) N110S probably benign Het
Epha8 A T 4: 136,659,246 (GRCm39) L831Q probably damaging Het
Esd G T 14: 74,979,553 (GRCm39) R119I probably damaging Het
F2 T C 2: 91,465,277 (GRCm39) K96E possibly damaging Het
Fcgbp T C 7: 27,789,159 (GRCm39) V575A probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gemin6 T C 17: 80,533,184 (GRCm39) V39A probably damaging Het
Glmp G T 3: 88,233,962 (GRCm39) probably benign Het
Gm10306 C A 4: 94,445,044 (GRCm39) probably benign Het
Gm4846 A T 1: 166,325,022 (GRCm39) L23* probably null Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
Ifi203 T C 1: 173,754,485 (GRCm39) T749A possibly damaging Het
Kcnip2 C A 19: 45,782,685 (GRCm39) A133S probably benign Het
Limch1 A T 5: 67,039,300 (GRCm39) I76F probably damaging Het
Mcph1 T A 8: 18,739,077 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtcl3 A T 10: 29,023,102 (GRCm39) I150L probably benign Het
Myh7 A G 14: 55,224,020 (GRCm39) probably benign Het
Odad2 A T 18: 7,294,566 (GRCm39) Y16N probably benign Het
Opcml A G 9: 28,586,621 (GRCm39) D113G possibly damaging Het
Or1j17 A T 2: 36,578,106 (GRCm39) I31F probably benign Het
Or1x2 A C 11: 50,918,161 (GRCm39) N111H probably benign Het
Or2ag18 A C 7: 106,404,941 (GRCm39) S243A probably damaging Het
Or2b6 A C 13: 21,822,949 (GRCm39) V248G probably damaging Het
Or51f1d A C 7: 102,700,742 (GRCm39) D79A probably damaging Het
Or52s19 A C 7: 103,007,729 (GRCm39) L224R probably damaging Het
Or5j1 T G 2: 86,879,509 (GRCm39) K24Q probably damaging Het
Pcdhb1 G T 18: 37,400,308 (GRCm39) C753F probably benign Het
Phip T C 9: 82,782,809 (GRCm39) S879G possibly damaging Het
Pi4k2b A G 5: 52,899,098 (GRCm39) D13G possibly damaging Het
Ptpn18 A T 1: 34,502,259 (GRCm39) I68F probably damaging Het
Rnf168 C T 16: 32,117,402 (GRCm39) T321I possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Sry A T Y: 2,663,647 (GRCm39) H4Q probably benign Het
Taf2 G A 15: 54,909,136 (GRCm39) A703V probably benign Het
Taf5l A G 8: 124,730,390 (GRCm39) F65L probably damaging Het
Tcp10b T C 17: 13,281,954 (GRCm39) probably null Het
Timm44 A T 8: 4,316,814 (GRCm39) I273N probably damaging Het
Tspan4 A G 7: 141,069,528 (GRCm39) T43A probably damaging Het
Ube2r2 T C 4: 41,190,846 (GRCm39) probably benign Het
Urgcp T C 11: 5,667,754 (GRCm39) T195A possibly damaging Het
Vmn1r197 T C 13: 22,512,361 (GRCm39) I94T probably damaging Het
Vmn2r15 A T 5: 109,434,673 (GRCm39) I677K probably damaging Het
Zfp853 T A 5: 143,274,318 (GRCm39) H434L 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
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'- TACAAGGGTGCAGCATTGG -3'
(R):5'- AGTACTTTCAAGCCTATGGTGG -3'

Sequencing Primer
(F):5'- ACAAGGGTGCAGCATTGGATTTTTC -3'
(R):5'- CCTATGGTGGCGCCCCG -3'
Posted On 2016-08-04