Incidental Mutation 'R7196:Srgap1'
ID 559951
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
MMRRC Submission 045275-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R7196 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121676753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 414 (T414A)
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: T414A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: T414A

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 possibly damaging
Transcript: ENSMUST00000081688
AA Change: T414A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: T414A

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: 98.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik AGCTTCCCTGCTT AGCTT 9: 57,165,505 (GRCm39) probably null Het
4921504E06Rik A C 2: 19,498,806 (GRCm39) S396A probably benign Het
Actr6 C A 10: 89,550,784 (GRCm39) V337F possibly damaging Het
Agtpbp1 T C 13: 59,680,994 (GRCm39) T73A possibly damaging Het
AI182371 A T 2: 34,976,441 (GRCm39) probably null Het
Apob A G 12: 8,033,893 (GRCm39) E202G possibly damaging Het
Asb4 A T 6: 5,423,356 (GRCm39) M168L probably benign Het
AU018091 T C 7: 3,213,788 (GRCm39) Y152C probably damaging Het
Casp3 G A 8: 47,088,498 (GRCm39) G132R possibly damaging Het
Cbfa2t3 C A 8: 123,365,729 (GRCm39) A229S probably benign Het
Cdh23 A T 10: 60,143,759 (GRCm39) Y2949N probably damaging Het
Ceacam3 T C 7: 16,888,881 (GRCm39) Y217H Het
Cldn5 A T 16: 18,595,630 (GRCm39) probably benign Het
Cltc T C 11: 86,597,657 (GRCm39) D1093G probably damaging Het
Cnn3 G A 3: 121,248,437 (GRCm39) probably null Het
Col4a2 A G 8: 11,448,693 (GRCm39) Y71C probably damaging Het
Csf1 T C 3: 107,661,214 (GRCm39) D77G possibly damaging Het
Cyp2j7 T A 4: 96,103,651 (GRCm39) T295S probably benign Het
Dnah7a A T 1: 53,724,000 (GRCm39) M133K probably benign Het
Dock5 G A 14: 67,993,919 (GRCm39) P1852L probably damaging Het
Dpysl3 T A 18: 43,462,910 (GRCm39) D489V probably damaging Het
Dsg4 T C 18: 20,599,537 (GRCm39) Y718H probably damaging Het
Dync2h1 G A 9: 7,147,715 (GRCm39) Q972* probably null Het
Epn1 G A 7: 5,096,380 (GRCm39) D225N possibly damaging Het
Esp4 A G 17: 40,913,256 (GRCm39) E41G probably benign Het
Fam171a2 T C 11: 102,329,172 (GRCm39) D529G probably benign Het
Fbxl13 A T 5: 21,691,301 (GRCm39) I694N probably damaging Het
Fshr C T 17: 89,292,897 (GRCm39) A594T probably damaging Het
Galnt3 A G 2: 65,921,268 (GRCm39) Y533H probably damaging Het
Gja5 C A 3: 96,958,422 (GRCm39) R160S probably damaging Het
Gm12353 A T 4: 19,608,938 (GRCm39) D7V unknown Het
Gm17669 T C 18: 67,695,572 (GRCm39) F39S probably damaging Het
Gm7145 T A 1: 117,913,791 (GRCm39) N224K possibly damaging Het
Gpd1 G T 15: 99,619,936 (GRCm39) G245C probably benign Het
Gpr4 G A 7: 18,957,089 (GRCm39) G337D probably benign Het
Hgd G A 16: 37,409,078 (GRCm39) C14Y probably benign Het
Ibtk A T 9: 85,625,709 (GRCm39) S14T probably damaging Het
Ifi205 G T 1: 173,854,109 (GRCm39) N181K probably damaging Het
Inppl1 G A 7: 101,477,993 (GRCm39) A673V probably benign Het
Itgb3 C A 11: 104,524,438 (GRCm39) Y191* probably null Het
Jrkl G T 9: 13,244,162 (GRCm39) P500T probably benign Het
Kcnq1 G A 7: 142,912,478 (GRCm39) V515I possibly damaging Het
Kifc3 A G 8: 95,833,239 (GRCm39) V453A probably benign Het
Krt10 C T 11: 99,278,371 (GRCm39) E263K probably damaging Het
Lingo1 A T 9: 56,527,903 (GRCm39) F235I probably damaging Het
Lmo7 T A 14: 102,133,936 (GRCm39) D660E possibly damaging Het
Magi3 A C 3: 103,956,484 (GRCm39) C661W probably benign Het
Mmp1a C T 9: 7,476,018 (GRCm39) Q428* probably null Het
Msrb1 A T 17: 24,958,556 (GRCm39) T47S probably benign Het
Naip6 A T 13: 100,436,666 (GRCm39) I619K probably benign Het
Ndfip2 T C 14: 105,535,472 (GRCm39) S253P probably damaging Het
Nebl A T 2: 17,457,329 (GRCm39) V77E probably damaging Het
Nit1 T C 1: 171,172,003 (GRCm39) E65G probably benign Het
Ntn4 C T 10: 93,569,576 (GRCm39) H430Y probably benign Het
Nxpe5 A T 5: 138,237,586 (GRCm39) I49F probably benign Het
Or10a2 A G 7: 106,673,935 (GRCm39) N300S probably benign Het
Or10c1 A G 17: 37,522,084 (GRCm39) I220T probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Or1e23 A G 11: 73,407,957 (GRCm39) Y23H probably benign Het
Or1m1 A T 9: 18,666,886 (GRCm39) L15* probably null Het
Or4k49 T G 2: 111,495,042 (GRCm39) L157W probably damaging Het
Or52s6 A T 7: 103,092,204 (GRCm39) M42K probably benign Het
Or7e178 A G 9: 20,225,494 (GRCm39) Y241H probably benign Het
Oxct2a T A 4: 123,217,165 (GRCm39) N72I probably damaging Het
Pappa G A 4: 65,242,128 (GRCm39) probably null Het
Pcnx1 G A 12: 82,042,312 (GRCm39) R34H possibly damaging Het
Plekha5 G T 6: 140,489,648 (GRCm39) V236L possibly damaging Het
Prdm1 A G 10: 44,332,988 (GRCm39) S44P probably benign Het
Prss46 T A 9: 110,680,533 (GRCm39) L226Q probably benign Het
Prss47 C A 13: 65,192,640 (GRCm39) W380C probably benign Het
Ptch2 T G 4: 116,971,946 (GRCm39) V1156G probably benign Het
Rab3gap2 T C 1: 185,013,864 (GRCm39) F1190S probably damaging Het
Raver2 T G 4: 100,960,056 (GRCm39) Y179D probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Ripor2 T G 13: 24,888,808 (GRCm39) I629S possibly damaging Het
Robo4 T A 9: 37,314,001 (GRCm39) M84K possibly damaging Het
Rps6ka5 A T 12: 100,562,123 (GRCm39) S252T possibly damaging Het
Rtl1 C T 12: 109,559,221 (GRCm39) V873M possibly damaging Het
Sla T A 15: 66,703,420 (GRCm39) R4W probably benign Het
Smco1 A G 16: 32,092,620 (GRCm39) D97G probably damaging Het
Syt14 A G 1: 192,717,936 (GRCm39) I3T probably benign Het
Tnpo2 G A 8: 85,773,766 (GRCm39) V303M possibly damaging Het
Tstd2 A C 4: 46,119,955 (GRCm39) S332R probably damaging Het
Ttn C A 2: 76,582,386 (GRCm39) A22836S possibly damaging Het
Ufl1 A G 4: 25,250,669 (GRCm39) V728A probably benign Het
Usp33 A T 3: 152,089,828 (GRCm39) K789N possibly damaging Het
Usp54 T A 14: 20,638,438 (GRCm39) Q214L probably damaging Het
Vmn2r7 T G 3: 64,623,198 (GRCm39) N374T probably benign Het
Zbtb7a T A 10: 80,980,434 (GRCm39) N209K probably damaging Het
Zc3hav1 A G 6: 38,306,207 (GRCm39) V615A probably benign Het
Zdhhc20 A G 14: 58,111,348 (GRCm39) probably null Het
Zfp90 G T 8: 107,151,780 (GRCm39) V498L 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
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
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'- AAAAGCCATCTTCACTGTGCTG -3'
(R):5'- CATGGGGTTCTCAGAAGAGTG -3'

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