Incidental Mutation 'R6336:Srgap1'
ID 510769
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
MMRRC Submission 044490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R6336 (G1)
Quality Score 209.009
Status Validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121761846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 101 (Y101N)
Ref Sequence ENSEMBL: ENSMUSP00000080389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688]
AlphaFold Q91Z69
Predicted Effect probably benign
Transcript: ENSMUST00000020322
AA Change: Y101N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: Y101N

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: Y101N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: Y101N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (45/46)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G T 5: 113,331,349 (GRCm39) P955Q possibly damaging Het
Adgrv1 T C 13: 81,534,100 (GRCm39) N5827S probably benign Het
Akt3 T C 1: 176,859,278 (GRCm39) D431G probably damaging Het
Anapc16 A T 10: 59,824,651 (GRCm39) V76D possibly damaging Het
Ankib1 A T 5: 3,750,377 (GRCm39) Y755* probably null Het
Ankrd6 A G 4: 32,860,411 (GRCm39) S11P probably damaging Het
Card6 T A 15: 5,128,646 (GRCm39) K917* probably null Het
Ccdc152 T C 15: 3,330,611 (GRCm39) I21M probably damaging Het
Ccdc40 A G 11: 119,122,819 (GRCm39) E207G possibly damaging Het
Clca3a2 G T 3: 144,512,239 (GRCm39) A499E probably benign Het
Cntnap5b C T 1: 100,286,394 (GRCm39) A383V probably benign Het
Ddo T C 10: 40,509,027 (GRCm39) V89A probably damaging Het
Depdc5 T C 5: 33,121,851 (GRCm39) 176 probably null Het
Dlgap1 T A 17: 71,122,284 (GRCm39) D904E probably damaging Het
Ephb4 T A 5: 137,370,347 (GRCm39) L849H probably damaging Het
Fbxl13 A G 5: 21,728,545 (GRCm39) probably null Het
Fer1l6 C A 15: 58,431,081 (GRCm39) Y245* probably null Het
Foxred2 A G 15: 77,839,964 (GRCm39) Y109H probably damaging Het
Gabarapl1 A G 6: 129,514,491 (GRCm39) D43G probably benign Het
Gabrb1 A C 5: 72,187,241 (GRCm39) E178A possibly damaging Het
Gbp11 A G 5: 105,473,355 (GRCm39) Het
Grin3b C A 10: 79,812,295 (GRCm39) A845E probably damaging Het
Hoxd4 A G 2: 74,557,705 (GRCm39) Y28C probably damaging Het
Igsf10 G A 3: 59,237,760 (GRCm39) T807M probably benign Het
Kcnt1 A G 2: 25,778,767 (GRCm39) probably null Het
Kdm5a C A 6: 120,375,939 (GRCm39) T565K probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Mok A G 12: 110,800,558 (GRCm39) probably null Het
Mto1 A T 9: 78,381,117 (GRCm39) I73F probably damaging Het
Mtss2 G A 8: 111,458,796 (GRCm39) D310N probably damaging Het
Ncf2 T C 1: 152,709,821 (GRCm39) Y393H probably damaging Het
Or13c25 A T 4: 52,911,459 (GRCm39) C112S probably damaging Het
Or2f1b T C 6: 42,739,591 (GRCm39) S202P probably damaging Het
Or2y14 G T 11: 49,405,369 (GRCm39) K301N probably damaging Het
Or4f47 A C 2: 111,972,751 (GRCm39) I154L probably benign Het
Or4k49 A G 2: 111,494,964 (GRCm39) H131R possibly damaging Het
Or52z1 T C 7: 103,437,452 (GRCm39) T11A possibly damaging Het
Phxr2 T A 10: 98,961,952 (GRCm39) probably benign Het
Potefam3f A G 8: 20,499,951 (GRCm39) K242E unknown Het
Rnf17 A G 14: 56,658,626 (GRCm39) probably null Het
Serpinb9d T C 13: 33,378,677 (GRCm39) M41T probably damaging Het
Slc12a5 T A 2: 164,834,384 (GRCm39) probably null Het
Slc22a6 G A 19: 8,599,494 (GRCm39) R331H probably benign Het
Spg11 G C 2: 121,943,440 (GRCm39) probably null Het
Src T A 2: 157,299,075 (GRCm39) V24E probably benign Het
Vmn2r30 T A 7: 7,337,307 (GRCm39) T110S probably benign Het
Vwa3a A G 7: 120,361,646 (GRCm39) E119G possibly damaging Het
Whamm T A 7: 81,241,512 (GRCm39) D274E 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
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'- TGGCTATCTGGAAGCACACC -3'
(R):5'- GGCCTGATAAGTTGCAGGATCC -3'

Sequencing Primer
(F):5'- TATCTGGAAGCACACCATGGCAG -3'
(R):5'- TGTAGCGTGCCCTGATCTAAGAAAC -3'
Posted On 2018-04-02