Incidental Mutation 'R2864:Arhgap30'
ID 253081
Institutional Source Beutler Lab
Gene Symbol Arhgap30
Ensembl Gene ENSMUSG00000048865
Gene Name Rho GTPase activating protein 30
Synonyms 6030405P05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2864 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171216528-171237808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 171235774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 716 (G716V)
Ref Sequence ENSEMBL: ENSMUSP00000059389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001284] [ENSMUST00000056449] [ENSMUST00000159207] [ENSMUST00000161241] [ENSMUST00000160486] [ENSMUST00000167546]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000001284
Predicted Effect probably damaging
Transcript: ENSMUST00000056449
AA Change: G716V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: G716V

DomainStartEndE-ValueType
low complexity region 6 14 N/A INTRINSIC
RhoGAP 31 212 1.4e-61 SMART
Blast:RhoGAP 225 285 2e-24 BLAST
low complexity region 348 366 N/A INTRINSIC
low complexity region 367 378 N/A INTRINSIC
low complexity region 452 463 N/A INTRINSIC
low complexity region 498 510 N/A INTRINSIC
low complexity region 514 534 N/A INTRINSIC
low complexity region 667 690 N/A INTRINSIC
low complexity region 736 752 N/A INTRINSIC
low complexity region 924 940 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135312
Predicted Effect probably benign
Transcript: ENSMUST00000159207
SMART Domains Protein: ENSMUSP00000124000
Gene: ENSMUSG00000026641

DomainStartEndE-ValueType
low complexity region 121 145 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161297
Predicted Effect probably benign
Transcript: ENSMUST00000161241
SMART Domains Protein: ENSMUSP00000125729
Gene: ENSMUSG00000026641

DomainStartEndE-ValueType
low complexity region 121 145 N/A INTRINSIC
HLH 205 260 5.01e-15 SMART
low complexity region 265 281 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160486
SMART Domains Protein: ENSMUSP00000125363
Gene: ENSMUSG00000026641

DomainStartEndE-ValueType
low complexity region 121 145 N/A INTRINSIC
HLH 205 260 5.01e-15 SMART
low complexity region 265 281 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167546
SMART Domains Protein: ENSMUSP00000128913
Gene: ENSMUSG00000026641

DomainStartEndE-ValueType
low complexity region 121 145 N/A INTRINSIC
HLH 205 260 5.01e-15 SMART
low complexity region 265 281 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI

All alleles(4) : Targeted(2) Gene trapped(2)

Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Crk T C 11: 75,594,211 (GRCm39) V266A probably damaging Het
Dock4 T A 12: 40,780,072 (GRCm39) F624L probably damaging Het
Fhod1 T C 8: 106,059,543 (GRCm39) K714R probably null Het
Flt1 T C 5: 147,531,431 (GRCm39) Q844R possibly damaging Het
Fn1 A G 1: 71,641,578 (GRCm39) V1656A probably damaging Het
Fnip1 T C 11: 54,393,250 (GRCm39) I562T probably damaging Het
Gm7168 A G 17: 14,170,117 (GRCm39) K495E probably benign Het
Igf2r T C 17: 12,905,611 (GRCm39) H2240R probably damaging Het
Itpr3 T C 17: 27,310,525 (GRCm39) V436A probably benign Het
Lrp1b G T 2: 40,765,007 (GRCm39) Q2826K possibly damaging Het
Lrrc37 A G 11: 103,431,744 (GRCm39) F1357S probably benign Het
Luc7l C A 17: 26,485,335 (GRCm39) Q112K probably damaging Het
Misp A G 10: 79,662,872 (GRCm39) K430E probably benign Het
Oprm1 T A 10: 6,744,226 (GRCm39) probably null Het
Or8b43 A G 9: 38,360,684 (GRCm39) N172S possibly damaging Het
Paqr3 C T 5: 97,247,595 (GRCm39) R171H possibly damaging Het
Phc3 C T 3: 30,968,277 (GRCm39) D920N probably damaging Het
Pigk T C 3: 152,428,189 (GRCm39) V72A probably damaging Het
Prickle1 C T 15: 93,407,159 (GRCm39) G112R probably damaging Het
Rrbp1 T C 2: 143,799,557 (GRCm39) E1050G probably damaging Het
Vmn2r93 A T 17: 18,546,323 (GRCm39) I732F probably damaging Het
Xkr6 T C 14: 64,057,205 (GRCm39) L372P unknown Het
Zfp523 T C 17: 28,421,514 (GRCm39) V60A probably benign Het
Other mutations in Arhgap30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Arhgap30 APN 1 171,225,138 (GRCm39) missense probably damaging 1.00
IGL02016:Arhgap30 APN 1 171,235,315 (GRCm39) missense probably damaging 1.00
IGL02552:Arhgap30 APN 1 171,235,324 (GRCm39) missense probably damaging 1.00
IGL03343:Arhgap30 APN 1 171,236,662 (GRCm39) missense probably damaging 1.00
consonance UTSW 1 171,231,707 (GRCm39) critical splice donor site probably null
deliverance UTSW 1 171,225,086 (GRCm39) nonsense probably null
redemption UTSW 1 171,229,822 (GRCm39) missense probably damaging 1.00
tercero UTSW 1 171,235,909 (GRCm39) missense probably benign
FR4304:Arhgap30 UTSW 1 171,232,736 (GRCm39) small insertion probably benign
P0017:Arhgap30 UTSW 1 171,236,272 (GRCm39) missense probably benign 0.02
R0045:Arhgap30 UTSW 1 171,235,998 (GRCm39) missense probably benign
R0045:Arhgap30 UTSW 1 171,235,998 (GRCm39) missense probably benign
R0115:Arhgap30 UTSW 1 171,235,516 (GRCm39) missense possibly damaging 0.92
R0320:Arhgap30 UTSW 1 171,231,372 (GRCm39) missense possibly damaging 0.81
R0399:Arhgap30 UTSW 1 171,232,384 (GRCm39) missense probably damaging 0.97
R0945:Arhgap30 UTSW 1 171,230,854 (GRCm39) missense probably damaging 1.00
R1484:Arhgap30 UTSW 1 171,230,839 (GRCm39) missense probably damaging 1.00
R1595:Arhgap30 UTSW 1 171,235,909 (GRCm39) missense probably benign
R2173:Arhgap30 UTSW 1 171,235,335 (GRCm39) missense probably damaging 1.00
R2281:Arhgap30 UTSW 1 171,216,896 (GRCm39) missense probably damaging 1.00
R4066:Arhgap30 UTSW 1 171,235,891 (GRCm39) missense probably benign
R4888:Arhgap30 UTSW 1 171,236,880 (GRCm39) missense probably benign
R4937:Arhgap30 UTSW 1 171,230,897 (GRCm39) missense probably benign 0.03
R4944:Arhgap30 UTSW 1 171,229,822 (GRCm39) missense probably damaging 1.00
R5170:Arhgap30 UTSW 1 171,235,618 (GRCm39) missense probably benign 0.00
R5218:Arhgap30 UTSW 1 171,236,328 (GRCm39) missense probably benign
R5385:Arhgap30 UTSW 1 171,235,848 (GRCm39) missense probably benign
R5541:Arhgap30 UTSW 1 171,231,707 (GRCm39) critical splice donor site probably null
R6028:Arhgap30 UTSW 1 171,235,888 (GRCm39) missense probably benign
R6747:Arhgap30 UTSW 1 171,235,297 (GRCm39) missense probably damaging 1.00
R6748:Arhgap30 UTSW 1 171,232,378 (GRCm39) missense possibly damaging 0.50
R6869:Arhgap30 UTSW 1 171,236,623 (GRCm39) missense probably damaging 1.00
R7223:Arhgap30 UTSW 1 171,235,139 (GRCm39) missense probably damaging 1.00
R8113:Arhgap30 UTSW 1 171,225,086 (GRCm39) nonsense probably null
R8543:Arhgap30 UTSW 1 171,232,530 (GRCm39) missense probably damaging 1.00
R8545:Arhgap30 UTSW 1 171,234,998 (GRCm39) missense probably damaging 1.00
R8682:Arhgap30 UTSW 1 171,234,970 (GRCm39) missense probably benign 0.00
R8693:Arhgap30 UTSW 1 171,225,094 (GRCm39) missense probably damaging 1.00
R9026:Arhgap30 UTSW 1 171,228,258 (GRCm39) missense probably damaging 1.00
R9245:Arhgap30 UTSW 1 171,235,957 (GRCm39) missense possibly damaging 0.90
R9515:Arhgap30 UTSW 1 171,236,002 (GRCm39) missense probably benign 0.38
R9524:Arhgap30 UTSW 1 171,225,114 (GRCm39) missense probably damaging 0.99
R9703:Arhgap30 UTSW 1 171,235,339 (GRCm39) missense probably damaging 1.00
X0020:Arhgap30 UTSW 1 171,232,653 (GRCm39) missense possibly damaging 0.53
Z1177:Arhgap30 UTSW 1 171,235,476 (GRCm39) missense probably benign 0.01
Z1189:Arhgap30 UTSW 1 171,235,938 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CCCCGGAGCACATCAGATAA -3'
(R):5'- AAGGTCACTCTTCCTCCTCAG -3'

Sequencing Primer
(F):5'- GAGCACATCAGATAACCGGG -3'
(R):5'- ATGCTTGTGGACAACTTCCCAG -3'
Posted On 2014-12-04