Incidental Mutation 'R0365:Srgap1'
ID 36361
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
MMRRC Submission 038571-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R0365 (G1)
Quality Score 223
Status Not validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121621610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 984 (H984L)
Ref Sequence ENSEMBL: ENSMUSP00000080389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688]
AlphaFold Q91Z69
Predicted Effect possibly damaging
Transcript: ENSMUST00000020322
AA Change: H961L

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: H961L

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: H984L

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: H984L

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.8%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,088 (GRCm39) M173K probably benign Het
Abcb1b T A 5: 8,856,009 (GRCm39) F39Y probably damaging Het
Acbd3 A G 1: 180,566,177 (GRCm39) Y290C probably damaging Het
Alg12 A C 15: 88,700,352 (GRCm39) I28R possibly damaging Het
Amer2 A T 14: 60,616,984 (GRCm39) D393V probably damaging Het
Anxa5 A T 3: 36,511,618 (GRCm39) V153D probably damaging Het
Arl5a T C 2: 52,306,141 (GRCm39) M64V probably benign Het
Astn1 T C 1: 158,516,118 (GRCm39) L1236P probably damaging Het
Atg2a T C 19: 6,297,713 (GRCm39) S424P possibly damaging Het
AW551984 A T 9: 39,510,617 (GRCm39) S239R probably benign Het
Baz1b T C 5: 135,268,985 (GRCm39) V1278A probably benign Het
Cbfa2t3 G T 8: 123,361,799 (GRCm39) L408I probably benign Het
Cdc27 A T 11: 104,419,250 (GRCm39) N227K possibly damaging Het
Cdh20 A T 1: 110,036,486 (GRCm39) Q555H probably damaging Het
Cdh23 T A 10: 60,215,094 (GRCm39) N1412I probably damaging Het
Cdhr2 T C 13: 54,866,105 (GRCm39) S302P probably benign Het
Cep350 C A 1: 155,782,317 (GRCm39) E1563D probably benign Het
Cfap221 T A 1: 119,912,753 (GRCm39) E107V probably benign Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Coro6 A T 11: 77,354,916 (GRCm39) I60F probably benign Het
Dennd2b A T 7: 109,138,156 (GRCm39) V753E probably damaging Het
Dock10 G T 1: 80,573,400 (GRCm39) N245K probably damaging Het
Epb41l2 T A 10: 25,345,119 (GRCm39) N286K probably damaging Het
Fam83g G T 11: 61,593,935 (GRCm39) E490* probably null Het
Gnb1l T C 16: 18,371,211 (GRCm39) I234T possibly damaging Het
Gtf3a T A 5: 146,885,747 (GRCm39) W53R probably damaging Het
Ikzf4 T C 10: 128,470,276 (GRCm39) I415V probably benign Het
Il11ra1 T C 4: 41,767,527 (GRCm39) V293A probably damaging Het
Il17ra G A 6: 120,455,410 (GRCm39) V340M probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Kif24 A T 4: 41,428,731 (GRCm39) H76Q probably benign Het
Klhl25 T C 7: 75,516,264 (GRCm39) L390P probably damaging Het
Klhl26 T C 8: 70,904,479 (GRCm39) D443G probably damaging Het
Lama3 A T 18: 12,640,064 (GRCm39) R86S probably damaging Het
Lrrc24 G A 15: 76,599,984 (GRCm39) A385V probably benign Het
Maea C T 5: 33,517,787 (GRCm39) A109V probably benign Het
Mtor A T 4: 148,570,507 (GRCm39) Y1188F probably benign Het
Nccrp1 T C 7: 28,243,977 (GRCm39) D202G probably damaging Het
Nsun4 A T 4: 115,901,935 (GRCm39) L177Q probably damaging Het
Nup155 C T 15: 8,161,027 (GRCm39) R571W probably damaging Het
Nup160 T A 2: 90,539,188 (GRCm39) M789K probably benign Het
Odad2 T A 18: 7,217,800 (GRCm39) H638L probably benign Het
Or5an1c A G 19: 12,218,440 (GRCm39) F195S probably benign Het
Or5p50 A T 7: 107,422,124 (GRCm39) L184* probably null Het
Or8d2b A T 9: 38,788,481 (GRCm39) H3L probably benign Het
Pgpep1 G T 8: 71,105,174 (GRCm39) probably null Het
Pkd1l2 C T 8: 117,748,589 (GRCm39) V1861M probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plin4 G T 17: 56,411,667 (GRCm39) T788K possibly damaging Het
Ppp3r2 T C 4: 49,681,902 (GRCm39) D16G possibly damaging Het
Pramel22 G T 4: 143,382,071 (GRCm39) Y208* probably null Het
Prdm16 A T 4: 154,426,513 (GRCm39) I424N probably damaging Het
Psen2 T A 1: 180,056,410 (GRCm39) I396F probably damaging Het
Psip1 C T 4: 83,403,949 (GRCm39) probably null Het
Ptprd G A 4: 76,055,083 (GRCm39) T215I probably damaging Het
Rec114 A G 9: 58,648,822 (GRCm39) S2P probably benign Het
Rexo1 A G 10: 80,378,410 (GRCm39) I1181T probably damaging Het
Rfx7 T C 9: 72,527,118 (GRCm39) M1436T probably benign Het
Rnf213 T A 11: 119,316,937 (GRCm39) V1020E possibly damaging Het
Rorc G A 3: 94,296,069 (GRCm39) G83S probably damaging Het
Ryr2 T G 13: 11,683,725 (GRCm39) Q3113P possibly damaging Het
Shank1 T C 7: 44,003,401 (GRCm39) S1698P possibly damaging Het
Slc2a2 T C 3: 28,762,828 (GRCm39) probably null Het
Slc5a9 A T 4: 111,749,033 (GRCm39) Y98* probably null Het
Smc6 T C 12: 11,333,175 (GRCm39) probably null Het
Sptb G T 12: 76,647,157 (GRCm39) F1959L probably benign Het
Ssc5d T A 7: 4,931,466 (GRCm39) C224* probably null Het
Ston2 A T 12: 91,614,634 (GRCm39) H591Q probably benign Het
Tbx3 C T 5: 119,813,315 (GRCm39) A222V possibly damaging Het
Thsd7a A G 6: 12,321,886 (GRCm39) probably null Het
Usp9y T C Y: 1,364,732 (GRCm39) D1027G probably damaging Het
Wnt5a C T 14: 28,240,461 (GRCm39) R184* probably null Het
Zfpm2 A G 15: 40,637,462 (GRCm39) E74G possibly damaging Het
Zwint C A 10: 72,493,127 (GRCm39) S223* probably null 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
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
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'- AGGAAGGTTGTGGATCACCCACTC -3'
(R):5'- AGCGTACAAACCCTGTGGACAGAC -3'

Sequencing Primer
(F):5'- ACATCGTGCAAGACTTGTCTG -3'
(R):5'- CCCTGTGGACAGACTGTAAAG -3'
Posted On 2013-05-09