Incidental Mutation 'R7912:Srgap1'
ID 610611
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R7912 (G1)
Quality Score 214.458
Status Not validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC to CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC at 121689458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
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
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,120,451 (GRCm39) T403A probably benign Het
Aco1 T C 4: 40,184,983 (GRCm39) L551S probably damaging Het
Acvr1 C T 2: 58,364,230 (GRCm39) V200I probably damaging Het
Adam26b T A 8: 43,973,245 (GRCm39) T586S probably benign Het
Ahctf1 T C 1: 179,580,656 (GRCm39) R1849G probably benign Het
Alox5 T A 6: 116,389,497 (GRCm39) D590V probably benign Het
Anapc5 A G 5: 122,931,498 (GRCm39) probably null Het
Anln T C 9: 22,269,965 (GRCm39) E743G possibly damaging Het
Anpep T C 7: 79,488,174 (GRCm39) K496R probably benign Het
Aox3 T A 1: 58,181,855 (GRCm39) S281T probably benign Het
Arhgef11 C A 3: 87,640,529 (GRCm39) P1258T probably damaging Het
Atp2c2 A T 8: 120,456,917 (GRCm39) D173V possibly damaging Het
Aurka T G 2: 172,210,949 (GRCm39) D22A probably benign Het
B3gat1 A T 9: 26,666,882 (GRCm39) D51V probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTTCTGTGGTCAC TGGTTCTGTGGTCACGGGTTCTGTGGTCAC 3: 95,795,483 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,466 (GRCm39) probably benign Het
BC028528 TTC TTCGGTGGTCACTGGCTC 3: 95,795,456 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT 3: 95,795,454 (GRCm39) probably benign Het
BC028528 CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA 3: 95,795,452 (GRCm39) probably benign Het
BC028528 CACTG CACTGATTCTGTGGTGACTG 3: 95,795,450 (GRCm39) probably benign Het
Bcas3 G A 11: 85,261,954 (GRCm39) G96S probably damaging Het
Bltp1 C T 3: 37,061,218 (GRCm39) A3309V probably damaging Het
C2cd4d T A 3: 94,270,860 (GRCm39) V42D probably damaging Het
Ccdc127 T C 13: 74,505,151 (GRCm39) L233P probably damaging Het
Cdc42bpa A G 1: 179,921,578 (GRCm39) K573E probably damaging Het
Cend1 T C 7: 141,007,544 (GRCm39) D92G probably damaging Het
Crb1 T C 1: 139,170,909 (GRCm39) D827G probably damaging Het
Cyld G T 8: 89,461,525 (GRCm39) C654F probably damaging Het
Fastkd5 C T 2: 130,458,557 (GRCm39) G11D probably damaging Het
Foxj3 A T 4: 119,477,252 (GRCm39) N354I possibly damaging Het
Gimap8 G T 6: 48,627,999 (GRCm39) C252F probably benign Het
Glra1 T C 11: 55,411,821 (GRCm39) Y329C probably damaging Het
Gm10330 G A 12: 23,829,980 (GRCm39) P67L probably benign Het
Gpm6a T C 8: 55,508,469 (GRCm39) I226T possibly damaging Het
Gstt2 A G 10: 75,668,418 (GRCm39) F121S probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,310,311 (GRCm39) F3302L probably benign Het
Hormad2 T C 11: 4,358,841 (GRCm39) T189A probably damaging Het
Hps5 A T 7: 46,418,826 (GRCm39) S815T probably benign Het
Hydin G T 8: 111,282,239 (GRCm39) R3113L possibly damaging Het
Inava A G 1: 136,155,279 (GRCm39) S109P probably benign Het
Inpp5f T A 7: 128,294,037 (GRCm39) C698S probably benign Het
Irs1 T G 1: 82,267,605 (GRCm39) M204L probably benign Het
Itfg1 T C 8: 86,490,909 (GRCm39) D340G probably damaging Het
Itm2c T A 1: 85,833,032 (GRCm39) I122N probably damaging Het
Lamp3 T A 16: 19,474,247 (GRCm39) T376S probably damaging Het
Lrba T A 3: 86,622,872 (GRCm39) I2418N probably damaging Het
Lrcol1 T A 5: 110,502,715 (GRCm39) V161D probably damaging Het
Lrp2 T A 2: 69,259,016 (GRCm39) Q4558L probably benign Het
Lrrfip2 A T 9: 111,034,836 (GRCm39) Q175L probably damaging Het
Mib1 T G 18: 10,778,187 (GRCm39) S572R probably damaging Het
Mis18bp1 A T 12: 65,199,532 (GRCm39) D456E possibly damaging Het
Mlh1 T A 9: 111,090,581 (GRCm39) T116S possibly damaging Het
Mpp4 T C 1: 59,160,521 (GRCm39) N594S probably damaging Het
Nbas A G 12: 13,455,458 (GRCm39) E1224G possibly damaging Het
Neb T C 2: 52,110,997 (GRCm39) D163G possibly damaging Het
Nectin4 T C 1: 171,207,941 (GRCm39) V111A possibly damaging Het
Nfatc2ip G A 7: 125,989,617 (GRCm39) R256* probably null Het
Nlgn2 G A 11: 69,716,760 (GRCm39) R594C probably damaging Het
Nufip1 A G 14: 76,352,442 (GRCm39) S198G possibly damaging Het
Or2n1 T C 17: 38,486,158 (GRCm39) F61S probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or8b49 T C 9: 38,506,446 (GRCm39) F310L probably benign Het
Or8s8 C T 15: 98,354,574 (GRCm39) H128Y probably benign Het
Pcdhga8 G A 18: 37,859,896 (GRCm39) M317I probably benign Het
Phactr1 A T 13: 42,863,239 (GRCm39) I55L probably benign Het
Prl3c1 G A 13: 27,383,367 (GRCm39) R31Q probably benign Het
Prss55 A T 14: 64,319,180 (GRCm39) F59Y possibly damaging Het
Ptprb T C 10: 116,158,392 (GRCm39) W488R probably damaging Het
Qrich2 GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC 11: 116,346,608 (GRCm39) probably benign Het
Ros1 G T 10: 52,044,791 (GRCm39) T172K probably damaging Het
Rtel1 C T 2: 180,997,869 (GRCm39) R1206W possibly damaging Het
Slf2 A T 19: 44,930,682 (GRCm39) K586N probably damaging Het
Smc2 T A 4: 52,450,854 (GRCm39) M224K probably benign Het
Spata31d1e A T 13: 59,890,329 (GRCm39) I497K probably damaging Het
Spinkl T C 18: 44,299,716 (GRCm39) Y83C probably damaging Het
St13 T C 15: 81,283,719 (GRCm39) E26G possibly damaging Het
Teddm3 T A 16: 20,971,699 (GRCm39) Q290L probably benign Het
Tfec C A 6: 16,840,467 (GRCm39) probably null Het
Trank1 C A 9: 111,220,596 (GRCm39) D2444E probably benign Het
Ttc17 T A 2: 94,209,166 (GRCm39) N96I probably damaging Het
Ttn T C 2: 76,560,130 (GRCm39) T29424A possibly damaging Het
Tut7 C A 13: 59,946,819 (GRCm39) Q1003H probably damaging Het
Vmn1r68 G A 7: 10,261,237 (GRCm39) T287I probably benign Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vmn2r92 A T 17: 18,404,970 (GRCm39) T705S possibly damaging Het
Vps13d T C 4: 144,899,697 (GRCm39) D200G Het
Wdr48 G A 9: 119,733,405 (GRCm39) C84Y probably damaging Het
Zscan25 T A 5: 145,227,321 (GRCm39) H328Q probably benign 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
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
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'- TGAGTCCAGATCTTTGTGAGC -3'
(R):5'- TCCTTCTGCACTGTCAGGTG -3'

Sequencing Primer
(F):5'- AGTCCAGATCTTTGTGAGCACACTC -3'
(R):5'- CACTGTCAGGTGTGTCAGGTCAG -3'
Posted On 2019-12-20