Incidental Mutation 'R6039:Arhgap24'
ID 479352
Institutional Source Beutler Lab
Gene Symbol Arhgap24
Ensembl Gene ENSMUSG00000057315
Gene Name Rho GTPase activating protein 24
Synonyms 0610025G21Rik
MMRRC Submission 043259-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6039 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 102629257-103045803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103028652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 183 (S183P)
Ref Sequence ENSEMBL: ENSMUSP00000108475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070000] [ENSMUST00000073302] [ENSMUST00000094559] [ENSMUST00000112852] [ENSMUST00000112853] [ENSMUST00000112854]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000070000
AA Change: S186P

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070048
Gene: ENSMUSG00000057315
AA Change: S186P

DomainStartEndE-ValueType
RhoGAP 58 234 7.04e-67 SMART
low complexity region 476 487 N/A INTRINSIC
low complexity region 520 539 N/A INTRINSIC
coiled coil region 558 638 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000073302
AA Change: S183P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073028
Gene: ENSMUSG00000057315
AA Change: S183P

DomainStartEndE-ValueType
Blast:RhoGAP 1 38 5e-16 BLAST
RhoGAP 55 231 7.04e-67 SMART
low complexity region 473 484 N/A INTRINSIC
low complexity region 517 536 N/A INTRINSIC
coiled coil region 555 635 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094559
AA Change: S276P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092138
Gene: ENSMUSG00000057315
AA Change: S276P

DomainStartEndE-ValueType
PH 18 125 5.35e-23 SMART
RhoGAP 148 324 7.04e-67 SMART
low complexity region 566 577 N/A INTRINSIC
low complexity region 610 629 N/A INTRINSIC
coiled coil region 648 728 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112852
AA Change: S183P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108473
Gene: ENSMUSG00000057315
AA Change: S183P

DomainStartEndE-ValueType
Blast:RhoGAP 1 38 5e-16 BLAST
RhoGAP 55 231 7.04e-67 SMART
low complexity region 473 484 N/A INTRINSIC
low complexity region 517 536 N/A INTRINSIC
coiled coil region 555 635 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112853
AA Change: S183P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108474
Gene: ENSMUSG00000057315
AA Change: S183P

DomainStartEndE-ValueType
Blast:RhoGAP 1 38 5e-16 BLAST
RhoGAP 55 231 7.04e-67 SMART
low complexity region 473 484 N/A INTRINSIC
low complexity region 517 536 N/A INTRINSIC
coiled coil region 555 635 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112854
AA Change: S183P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108475
Gene: ENSMUSG00000057315
AA Change: S183P

DomainStartEndE-ValueType
Blast:RhoGAP 1 38 5e-16 BLAST
RhoGAP 55 231 7.04e-67 SMART
low complexity region 473 484 N/A INTRINSIC
low complexity region 517 536 N/A INTRINSIC
coiled coil region 555 635 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130222
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 98.9%
  • 10x: 92.2%
  • 20x: 71.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C T 6: 92,885,527 (GRCm39) R416Q possibly damaging Het
Adgre1 C A 17: 57,713,859 (GRCm39) D181E probably benign Het
Asb1 T C 1: 91,474,748 (GRCm39) L90P probably damaging Het
Bmp3 T C 5: 99,020,209 (GRCm39) F211L probably benign Het
C8a A G 4: 104,703,139 (GRCm39) I306T probably benign Het
Cdkn3 G A 14: 47,007,373 (GRCm39) G177R probably damaging Het
Chat A G 14: 32,170,984 (GRCm39) S172P probably damaging Het
Chd5 CAAGAAGAAGAAGAAGAA CAAGAAGAAGAAGAA 4: 152,438,078 (GRCm39) probably benign Het
Cyp4a12a T C 4: 115,184,420 (GRCm39) I265T probably damaging Het
Dlst T A 12: 85,165,664 (GRCm39) probably null Het
Dnmt1 A T 9: 20,837,716 (GRCm39) probably benign Het
Fbn1 C T 2: 125,205,800 (GRCm39) E1066K probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fstl1 T A 16: 37,641,538 (GRCm39) S105T probably benign Het
Gm19410 C G 8: 36,276,518 (GRCm39) A1725G probably benign Het
Hspb7 A G 4: 141,151,215 (GRCm39) N119S probably damaging Het
Il20 T A 1: 130,838,478 (GRCm39) D73V possibly damaging Het
Insrr T C 3: 87,716,608 (GRCm39) I612T possibly damaging Het
Kcnma1 T C 14: 23,359,105 (GRCm39) Y1107C probably benign Het
Klhl32 A G 4: 24,792,615 (GRCm39) probably null Het
Krt77 C A 15: 101,769,351 (GRCm39) R470L possibly damaging Het
Muc1 T C 3: 89,139,336 (GRCm39) Y579H probably damaging Het
Myof T C 19: 37,966,132 (GRCm39) D396G probably damaging Het
Myom1 T G 17: 71,417,746 (GRCm39) D1316E probably damaging Het
Nbea T C 3: 55,912,538 (GRCm39) E1083G probably benign Het
Nek9 G A 12: 85,359,859 (GRCm39) A531V probably benign Het
Nlrp12 A T 7: 3,290,002 (GRCm39) I170N possibly damaging Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Ovch2 G A 7: 107,388,318 (GRCm39) L421F probably damaging Het
Paqr4 T C 17: 23,958,968 (GRCm39) D11G probably damaging Het
Parp8 A G 13: 117,014,134 (GRCm39) S561P probably damaging Het
Pcgf5 T A 19: 36,420,306 (GRCm39) F179L probably damaging Het
Pde4d A T 13: 110,084,876 (GRCm39) Q422L probably damaging Het
Pigs T A 11: 78,232,651 (GRCm39) V495E probably damaging Het
Polh C T 17: 46,498,959 (GRCm39) R252H probably benign Het
Psg28 T C 7: 18,160,107 (GRCm39) D363G possibly damaging Het
Ptgir A T 7: 16,640,815 (GRCm39) I36F possibly damaging Het
Ptprr G A 10: 116,072,668 (GRCm39) probably null Het
Rax C T 18: 66,068,418 (GRCm39) G229D unknown Het
Secisbp2l T A 2: 125,615,136 (GRCm39) H163L probably benign Het
Sf3a2 A G 10: 80,637,297 (GRCm39) Y45C probably damaging Het
Sgo2a C T 1: 58,055,775 (GRCm39) T653I possibly damaging Het
Slc38a9 A T 13: 112,806,231 (GRCm39) I26F probably damaging Het
Slc5a8 A G 10: 88,722,436 (GRCm39) I90V probably benign Het
Slx4 G A 16: 3,803,911 (GRCm39) H968Y possibly damaging Het
Stam2 T C 2: 52,599,611 (GRCm39) T233A probably benign Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Trav4-2 G A 14: 53,655,866 (GRCm39) V8M possibly damaging Het
Ttll5 T A 12: 85,878,729 (GRCm39) H45Q probably damaging Het
Ttn C T 2: 76,714,762 (GRCm39) probably benign Het
Ush2a T A 1: 188,051,217 (GRCm39) F234L possibly damaging Het
Vmn2r74 T A 7: 85,607,526 (GRCm39) probably null Het
Wdr6 CTG C 9: 108,450,994 (GRCm39) probably null Het
Zfp644 A G 5: 106,783,291 (GRCm39) S997P possibly damaging Het
Zfp853 G A 5: 143,274,529 (GRCm39) Q364* probably null Het
Other mutations in Arhgap24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Arhgap24 APN 5 103,008,265 (GRCm39) missense possibly damaging 0.94
IGL01483:Arhgap24 APN 5 103,008,243 (GRCm39) missense possibly damaging 0.91
IGL02641:Arhgap24 APN 5 103,040,386 (GRCm39) missense probably damaging 1.00
IGL03166:Arhgap24 APN 5 103,023,552 (GRCm39) splice site probably benign
bullmarket UTSW 5 103,023,643 (GRCm39) missense probably damaging 0.99
buyers UTSW 5 103,045,086 (GRCm39) missense probably damaging 1.00
wallstreet UTSW 5 102,700,163 (GRCm39) splice site probably null
BB009:Arhgap24 UTSW 5 102,993,835 (GRCm39) intron probably benign
BB019:Arhgap24 UTSW 5 102,993,835 (GRCm39) intron probably benign
R0506:Arhgap24 UTSW 5 103,023,643 (GRCm39) missense probably damaging 0.99
R0606:Arhgap24 UTSW 5 103,045,086 (GRCm39) missense probably damaging 1.00
R1457:Arhgap24 UTSW 5 102,811,972 (GRCm39) missense probably damaging 0.98
R1491:Arhgap24 UTSW 5 103,008,198 (GRCm39) missense possibly damaging 0.47
R1707:Arhgap24 UTSW 5 103,039,953 (GRCm39) missense probably benign 0.40
R2112:Arhgap24 UTSW 5 103,040,366 (GRCm39) missense probably damaging 1.00
R2300:Arhgap24 UTSW 5 103,008,291 (GRCm39) missense probably damaging 1.00
R2516:Arhgap24 UTSW 5 103,039,776 (GRCm39) missense probably benign
R3803:Arhgap24 UTSW 5 103,040,308 (GRCm39) missense probably damaging 0.98
R4257:Arhgap24 UTSW 5 102,811,983 (GRCm39) missense probably benign 0.00
R4761:Arhgap24 UTSW 5 102,812,080 (GRCm39) intron probably benign
R5045:Arhgap24 UTSW 5 103,039,743 (GRCm39) missense possibly damaging 0.79
R5121:Arhgap24 UTSW 5 102,989,201 (GRCm39) missense probably damaging 1.00
R5209:Arhgap24 UTSW 5 103,040,015 (GRCm39) missense probably benign 0.12
R5667:Arhgap24 UTSW 5 102,994,037 (GRCm39) critical splice donor site probably null
R5914:Arhgap24 UTSW 5 102,700,025 (GRCm39) splice site probably null
R6039:Arhgap24 UTSW 5 103,028,652 (GRCm39) missense probably damaging 0.98
R6158:Arhgap24 UTSW 5 103,040,778 (GRCm39) missense probably benign 0.12
R6410:Arhgap24 UTSW 5 103,040,017 (GRCm39) missense probably benign 0.10
R6450:Arhgap24 UTSW 5 103,044,990 (GRCm39) missense probably benign 0.01
R6520:Arhgap24 UTSW 5 103,028,659 (GRCm39) missense probably benign 0.00
R6666:Arhgap24 UTSW 5 102,700,163 (GRCm39) splice site probably null
R7233:Arhgap24 UTSW 5 103,026,367 (GRCm39) missense probably benign 0.03
R7311:Arhgap24 UTSW 5 103,040,551 (GRCm39) missense probably damaging 1.00
R7460:Arhgap24 UTSW 5 103,040,212 (GRCm39) missense probably benign 0.36
R7483:Arhgap24 UTSW 5 102,989,174 (GRCm39) missense probably benign 0.13
R7515:Arhgap24 UTSW 5 102,993,882 (GRCm39) intron probably benign
R7667:Arhgap24 UTSW 5 103,026,323 (GRCm39) missense probably benign
R7932:Arhgap24 UTSW 5 102,993,835 (GRCm39) intron probably benign
R8227:Arhgap24 UTSW 5 103,023,647 (GRCm39) missense probably benign 0.02
R8289:Arhgap24 UTSW 5 103,028,692 (GRCm39) missense possibly damaging 0.88
R8431:Arhgap24 UTSW 5 103,040,464 (GRCm39) missense possibly damaging 0.49
R8721:Arhgap24 UTSW 5 103,023,565 (GRCm39) missense possibly damaging 0.46
R8767:Arhgap24 UTSW 5 103,039,740 (GRCm39) missense probably benign
R8954:Arhgap24 UTSW 5 103,040,136 (GRCm39) missense probably benign 0.00
R9120:Arhgap24 UTSW 5 103,040,016 (GRCm39) missense probably benign 0.05
R9306:Arhgap24 UTSW 5 102,994,008 (GRCm39) missense possibly damaging 0.91
R9687:Arhgap24 UTSW 5 102,994,022 (GRCm39) missense probably benign
Z1176:Arhgap24 UTSW 5 103,028,673 (GRCm39) missense probably benign 0.00
Z1176:Arhgap24 UTSW 5 103,023,625 (GRCm39) missense probably damaging 0.97
Predicted Primers
Posted On 2017-06-26