Incidental Mutation 'R5116:Srgap1'
ID 394207
Institutional Source Beutler Lab
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
MMRRC Submission 042704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R5116 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121628284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 896 (L896P)
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: L873P

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: L873P

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: L896P

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: L896P

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
Meta Mutation Damage Score 0.0772 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.5%
Validation Efficiency 97% (59/61)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,216,930 (GRCm39) H429R probably damaging Het
Adam39 G T 8: 41,278,038 (GRCm39) C143F probably damaging Het
Adamts19 T C 18: 59,036,066 (GRCm39) V417A possibly damaging Het
Adcy10 C A 1: 165,347,069 (GRCm39) A362E probably damaging Het
Akap6 A G 12: 53,188,298 (GRCm39) E1904G probably benign Het
Aldh18a1 A G 19: 40,541,949 (GRCm39) M89T probably benign Het
Alyref G T 11: 120,488,554 (GRCm39) F91L probably benign Het
Capn3 G T 2: 120,315,773 (GRCm39) M248I probably benign Het
Catsper4 A T 4: 133,953,991 (GRCm39) I56N probably damaging Het
Cckbr T A 7: 105,082,862 (GRCm39) I75N probably damaging Het
Ccr8 T C 9: 119,923,095 (GRCm39) I70T probably benign Het
Cdh24 T C 14: 54,873,870 (GRCm39) D428G probably benign Het
Cdk5rap2 G T 4: 70,225,475 (GRCm39) Q557K possibly damaging Het
Clip1 C T 5: 123,768,770 (GRCm39) A610T probably benign Het
Dnajc16 A T 4: 141,495,280 (GRCm39) Y479* probably null Het
Fpr-rs3 A G 17: 20,844,562 (GRCm39) V193A probably benign Het
Gm29125 T C 1: 80,361,690 (GRCm39) noncoding transcript Het
H1f4 A G 13: 23,806,270 (GRCm39) Y71H probably damaging Het
Ifi208 A G 1: 173,505,549 (GRCm39) probably benign Het
Immp1l G A 2: 105,795,640 (GRCm39) R155H probably benign Het
Itgad C A 7: 127,803,065 (GRCm39) T7K probably damaging Het
Itgb3 T C 11: 104,531,903 (GRCm39) V370A probably benign Het
Jak1 A G 4: 101,012,310 (GRCm39) I1053T probably benign Het
Kif21b A G 1: 136,080,521 (GRCm39) R572G probably damaging Het
Lama2 A T 10: 26,994,556 (GRCm39) D1784E probably benign Het
Ltbp2 A T 12: 84,856,511 (GRCm39) V651D probably damaging Het
Mrpl47 A G 3: 32,787,750 (GRCm39) L100S probably damaging Het
Mx1 T G 16: 97,258,679 (GRCm39) N6T possibly damaging Het
Nde1 T A 16: 14,001,351 (GRCm39) M133K probably benign Het
Nlrc5 T C 8: 95,208,488 (GRCm39) L778P probably damaging Het
Odad3 A G 9: 21,901,424 (GRCm39) *595Q probably null Het
Or52e19b G A 7: 103,033,071 (GRCm39) T46I probably benign Het
Or5l13 G A 2: 87,779,873 (GRCm39) R235C probably benign Het
Or6c3b A G 10: 129,527,266 (GRCm39) S215P probably damaging Het
Or7g32 A G 9: 19,389,094 (GRCm39) S151P possibly damaging Het
Or8b38 T C 9: 37,972,634 (GRCm39) V6A probably benign Het
Otog T C 7: 45,923,191 (GRCm39) V1022A probably benign Het
Pcdhac1 G A 18: 37,224,500 (GRCm39) V438M probably damaging Het
Pcsk5 G A 19: 17,440,798 (GRCm39) S1264F possibly damaging Het
Pfas T C 11: 68,881,816 (GRCm39) probably benign Het
Pigr T A 1: 130,776,768 (GRCm39) F648I probably benign Het
Pla2r1 A C 2: 60,279,250 (GRCm39) Y777D probably damaging Het
Pnpla7 G T 2: 24,911,982 (GRCm39) G716V probably damaging Het
Rab11fip5 C T 6: 85,325,789 (GRCm39) E206K probably damaging Het
S100a10 A G 3: 93,468,247 (GRCm39) probably null Het
Slc35f1 T C 10: 52,897,991 (GRCm39) I134T probably benign Het
Smarcd1 C T 15: 99,600,369 (GRCm39) A56V probably benign Het
Snrk A G 9: 121,989,396 (GRCm39) T247A probably benign Het
Tmem19 A T 10: 115,179,651 (GRCm39) F167I probably benign Het
Tmprss11f T C 5: 86,687,555 (GRCm39) S118G probably benign Het
Tnc A G 4: 63,885,452 (GRCm39) probably null Het
Trem3 T C 17: 48,556,580 (GRCm39) L17P probably benign Het
Upp2 A G 2: 58,661,554 (GRCm39) Y67C probably damaging Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign Het
Zfp932 T A 5: 110,157,242 (GRCm39) D280E 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
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'- CAGCACTATACCTGAGCAATCG -3'
(R):5'- ATCCGGTGTCAAAAGCTCTTC -3'

Sequencing Primer
(F):5'- TATACCTGAGCAATCGTCTCGGG -3'
(R):5'- GGTGTCAAAAGCTCTTCTGTTTTC -3'
Posted On 2016-06-15