Incidental Mutation 'R7233:Arhgap24'
ID 562621
Institutional Source Beutler Lab
Gene Symbol Arhgap24
Ensembl Gene ENSMUSG00000057315
Gene Name Rho GTPase activating protein 24
Synonyms 0610025G21Rik
MMRRC Submission 045343-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7233 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 102629257-103045803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103026367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 263 (K263E)
Ref Sequence ENSEMBL: ENSMUSP00000092138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070000] [ENSMUST00000073302] [ENSMUST00000094559] [ENSMUST00000112852] [ENSMUST00000112853] [ENSMUST00000112854]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070000
AA Change: K173E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000070048
Gene: ENSMUSG00000057315
AA Change: K173E

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 benign
Transcript: ENSMUST00000073302
AA Change: K170E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073028
Gene: ENSMUSG00000057315
AA Change: K170E

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 benign
Transcript: ENSMUST00000094559
AA Change: K263E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000092138
Gene: ENSMUSG00000057315
AA Change: K263E

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 benign
Transcript: ENSMUST00000112852
AA Change: K170E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108473
Gene: ENSMUSG00000057315
AA Change: K170E

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 benign
Transcript: ENSMUST00000112853
AA Change: K170E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108474
Gene: ENSMUSG00000057315
AA Change: K170E

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 benign
Transcript: ENSMUST00000112854
AA Change: K170E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108475
Gene: ENSMUSG00000057315
AA Change: K170E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,762,641 (GRCm39) K505R probably benign Het
Ark2n C A 18: 77,722,882 (GRCm39) V385F probably damaging Het
Armc2 A T 10: 41,799,800 (GRCm39) V686D probably damaging Het
Bhmt T A 13: 93,758,025 (GRCm39) K229* probably null Het
Birc2 A T 9: 7,827,009 (GRCm39) C326S probably damaging Het
Blzf1 A T 1: 164,123,512 (GRCm39) probably null Het
Camsap3 T A 8: 3,650,371 (GRCm39) F223Y probably damaging Het
Ccdc126 C T 6: 49,316,775 (GRCm39) T85M probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2h T A 8: 105,744,088 (GRCm39) C279S probably damaging Het
Cfap44 T A 16: 44,242,771 (GRCm39) L725Q probably damaging Het
Cibar2 A G 8: 120,898,661 (GRCm39) L131P probably damaging Het
Clip1 T C 5: 123,749,922 (GRCm39) E987G probably damaging Het
Cog1 G T 11: 113,540,556 (GRCm39) R57L probably damaging Het
Ctdspl T C 9: 118,849,114 (GRCm39) probably null Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnttip2 T C 3: 122,070,039 (GRCm39) V418A probably benign Het
Dop1a G A 9: 86,403,749 (GRCm39) A186T probably benign Het
Efcab3 T C 11: 104,730,669 (GRCm39) S1966P possibly damaging Het
Engase T A 11: 118,373,827 (GRCm39) V323E probably damaging Het
Farsb A G 1: 78,447,718 (GRCm39) probably null Het
Fpr2 G T 17: 18,113,766 (GRCm39) W254L probably damaging Het
Frmd3 A C 4: 73,932,023 (GRCm39) H6P probably benign Het
Fscn1 C T 5: 142,956,029 (GRCm39) S366L possibly damaging Het
Galt T A 4: 41,758,267 (GRCm39) I344N probably benign Het
Gfra4 A T 2: 130,883,037 (GRCm39) V194E probably damaging Het
Golgb1 T C 16: 36,735,120 (GRCm39) S1497P possibly damaging Het
Igfn1 A C 1: 135,897,873 (GRCm39) S898A probably benign Het
Igkv1-135 T C 6: 67,587,332 (GRCm39) S68P probably benign Het
Lama2 A T 10: 27,107,659 (GRCm39) C784S probably damaging Het
Lars2 G T 9: 123,241,019 (GRCm39) G229* probably null Het
Lats2 A T 14: 57,960,151 (GRCm39) probably null Het
Lgr6 A C 1: 134,928,214 (GRCm39) probably null Het
Lrp1 A T 10: 127,430,930 (GRCm39) I373N probably damaging Het
Maml2 A T 9: 13,532,067 (GRCm39) H427L Het
Mansc1 A G 6: 134,598,806 (GRCm39) V37A probably damaging Het
Map4k3 A G 17: 80,905,077 (GRCm39) V738A possibly damaging Het
Mastl A G 2: 23,023,670 (GRCm39) I351T probably benign Het
Mcmdc2 T G 1: 10,002,408 (GRCm39) probably null Het
Mrgprd A G 7: 144,875,672 (GRCm39) D181G possibly damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Msra T C 14: 64,360,714 (GRCm39) Y209C probably damaging Het
Musk A G 4: 58,373,307 (GRCm39) E759G possibly damaging Het
Nab1 T C 1: 52,498,378 (GRCm39) *487W probably null Het
Or2z9 A G 8: 72,853,900 (GRCm39) T99A probably benign Het
Or5p66 T A 7: 107,885,923 (GRCm39) T137S probably benign Het
Pkdrej A G 15: 85,705,349 (GRCm39) S196P probably damaging Het
Pln A G 10: 53,220,008 (GRCm39) T17A probably damaging Het
Polrmt A T 10: 79,581,619 (GRCm39) probably null Het
Ppp1r14a T A 7: 28,988,949 (GRCm39) Y64N probably damaging Het
Ppp1r9a A T 6: 5,134,804 (GRCm39) H959L probably benign Het
Pramel42 A T 5: 94,685,524 (GRCm39) M395L probably benign Het
Prmt7 A G 8: 106,946,642 (GRCm39) T75A probably damaging Het
Prom1 T C 5: 44,194,816 (GRCm39) S319G possibly damaging Het
Prtg G A 9: 72,819,273 (GRCm39) G1089S probably benign Het
Ptprd T C 4: 75,978,020 (GRCm39) D596G probably benign Het
Rbm12 C T 2: 155,937,894 (GRCm39) G793S unknown Het
Rora A T 9: 69,104,804 (GRCm39) R43* probably null Het
Sez6 T C 11: 77,863,963 (GRCm39) Y482H probably damaging Het
Skint2 A T 4: 112,483,122 (GRCm39) N176Y probably damaging Het
Slc44a2 G T 9: 21,259,445 (GRCm39) probably null Het
Sox6 A G 7: 115,089,044 (GRCm39) V606A possibly damaging Het
Spa17 T C 9: 37,514,587 (GRCm39) probably null Het
Syne1 A C 10: 5,252,160 (GRCm39) L2498R probably damaging Het
Synpo2 T G 3: 122,911,333 (GRCm39) H104P probably benign Het
Tapbp G T 17: 34,138,943 (GRCm39) A46S probably damaging Het
Tbc1d30 C A 10: 121,107,962 (GRCm39) R480L probably benign Het
Tshz1 T C 18: 84,032,944 (GRCm39) D488G possibly damaging Het
Ulk1 A G 5: 110,956,908 (GRCm39) L70P probably damaging Het
Zcchc17 T A 4: 130,221,116 (GRCm39) D145V probably damaging Het
Zfp318 T A 17: 46,716,978 (GRCm39) L1037M probably damaging Het
Zfp324 C T 7: 12,704,524 (GRCm39) Q238* probably null Het
Zfp874a A G 13: 67,590,776 (GRCm39) Y303H possibly damaging Het
Zfp975 T C 7: 42,311,918 (GRCm39) K232E probably benign Het
Zfp982 T A 4: 147,597,718 (GRCm39) N358K probably benign Het
Zmiz1 C T 14: 25,650,092 (GRCm39) P417S possibly damaging 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
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
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 PCR Primer
(F):5'- GGCAGGATCGTTCACTGATTC -3'
(R):5'- AGGCATTCTTAGTGCTTAGGAAC -3'

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