Incidental Mutation 'R5170:Arhgap30'
ID 397484
Institutional Source Beutler Lab
Gene Symbol Arhgap30
Ensembl Gene ENSMUSG00000048865
Gene Name Rho GTPase activating protein 30
Synonyms 6030405P05Rik
MMRRC Submission 042750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5170 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171216528-171237808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171235618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 664 (D664G)
Ref Sequence ENSEMBL: ENSMUSP00000059389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001284] [ENSMUST00000056449] [ENSMUST00000159207] [ENSMUST00000161241] [ENSMUST00000167546] [ENSMUST00000160486]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000001284
Predicted Effect probably benign
Transcript: ENSMUST00000056449
AA Change: D664G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: D664G

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: 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
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,745,969 (GRCm39) I51V probably benign Het
Agbl2 A G 2: 90,633,541 (GRCm39) K559R probably benign Het
BC034090 A G 1: 155,089,396 (GRCm39) V798A probably damaging Het
Bdp1 A T 13: 100,167,302 (GRCm39) C2237* probably null Het
C3 C T 17: 57,530,938 (GRCm39) V388M probably damaging Het
Ccdc170 G A 10: 4,464,200 (GRCm39) E60K probably damaging Het
Cdh8 G A 8: 100,006,182 (GRCm39) T135M probably damaging Het
Cep131 G T 11: 119,961,435 (GRCm39) A572E probably damaging Het
Clec16a A G 16: 10,559,655 (GRCm39) Y976C probably benign Het
Cplx3 G A 9: 57,522,902 (GRCm39) R153* probably null Het
Defa41 A T 8: 21,691,696 (GRCm39) D26V probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Eno3 A G 11: 70,553,040 (GRCm39) I393V probably benign Het
Fbxo47 A G 11: 97,748,520 (GRCm39) V305A probably benign Het
Fry G A 5: 150,353,319 (GRCm39) V1779M probably benign Het
Gtse1 T C 15: 85,748,465 (GRCm39) probably null Het
Gucy2e A T 11: 69,126,396 (GRCm39) L328Q probably damaging Het
Ifi207 T C 1: 173,558,064 (GRCm39) T225A unknown Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Lamc3 A T 2: 31,777,356 (GRCm39) M1L probably benign Het
Myo16 A G 8: 10,619,745 (GRCm39) D1432G probably benign Het
Nwd2 A T 5: 63,963,380 (GRCm39) N988I probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp14 T C 16: 35,677,649 (GRCm39) E773G probably benign Het
Psen1 T A 12: 83,761,636 (GRCm39) M146K probably damaging Het
Ptx4 G A 17: 25,342,152 (GRCm39) R209Q probably benign Het
Slc13a2 T C 11: 78,291,634 (GRCm39) T340A probably damaging Het
St8sia1 T C 6: 142,909,434 (GRCm39) K21E probably damaging Het
Stxbp1 T C 2: 32,684,686 (GRCm39) D581G probably benign Het
Sumo2 G A 11: 115,425,486 (GRCm39) probably benign Het
Supt5 G A 7: 28,015,508 (GRCm39) P910S probably benign Het
Tbc1d30 T C 10: 121,142,743 (GRCm39) Q158R possibly damaging Het
Tenm2 T A 11: 35,915,633 (GRCm39) H1968L probably damaging Het
Trmt1 T C 8: 85,421,861 (GRCm39) Y220H probably damaging Het
Trp73 C T 4: 154,189,295 (GRCm39) E60K possibly damaging Het
Ttn A G 2: 76,617,413 (GRCm39) Y8026H probably damaging Het
Zar1l A G 5: 150,441,050 (GRCm39) probably null Het
Zfp740 T C 15: 102,117,640 (GRCm39) Y117H probably damaging Het
Zfp941 G A 7: 140,392,870 (GRCm39) probably benign Het
Zp1 C A 19: 10,897,918 (GRCm39) V8F possibly damaging 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
R2864:Arhgap30 UTSW 1 171,235,774 (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
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'- TGATCTGAGTCCCCTTCTGG -3'
(R):5'- GGGGTGTCATCTCCTTTCTCAG -3'

Sequencing Primer
(F):5'- TGTGGGAAACAACCTCCA -3'
(R):5'- CCACATCCTTGGTCTCCTTTATAC -3'
Posted On 2016-07-06