Incidental Mutation 'R4944:Arhgap30'
ID 383321
Institutional Source Beutler Lab
Gene Symbol Arhgap30
Ensembl Gene ENSMUSG00000048865
Gene Name Rho GTPase activating protein 30
Synonyms 6030405P05Rik
MMRRC Submission 042541-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4944 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171216528-171237808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 171229822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 176 (N176Y)
Ref Sequence ENSEMBL: ENSMUSP00000059389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056449]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056449
AA Change: N176Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: N176Y

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
Meta Mutation Damage Score 0.9589 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
Allele List at MGI

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

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 G A 5: 8,984,327 (GRCm39) probably null Het
Angptl7 C G 4: 148,584,534 (GRCm39) Q71H probably damaging Het
Armc9 T A 1: 86,202,256 (GRCm39) S805T probably damaging Het
Atxn1 T G 13: 45,720,407 (GRCm39) H496P probably damaging Het
Cabin1 C T 10: 75,557,197 (GRCm39) G1147D probably damaging Het
Cabin1 A G 10: 75,575,255 (GRCm39) S597P probably damaging Het
Catsperd T C 17: 56,969,744 (GRCm39) S613P probably damaging Het
Cdh2 A G 18: 16,783,466 (GRCm39) Y88H probably damaging Het
Cntn1 C A 15: 92,126,549 (GRCm39) P47Q probably damaging Het
Col11a2 T C 17: 34,261,164 (GRCm39) L38P possibly damaging Het
Col5a2 T G 1: 45,415,855 (GRCm39) I1431L possibly damaging Het
Csmd1 C T 8: 16,048,772 (GRCm39) G2310D probably damaging Het
Dhcr7 T A 7: 143,391,528 (GRCm39) I39N probably damaging Het
Dnajc13 C T 9: 104,044,586 (GRCm39) probably benign Het
Drgx G T 14: 32,330,206 (GRCm39) Q136H probably damaging Het
Folr2 T C 7: 101,489,497 (GRCm39) probably null Het
Galnt11 T C 5: 25,470,336 (GRCm39) I595T probably damaging Het
Gp5 G A 16: 30,128,326 (GRCm39) A116V possibly damaging Het
Gpn3 T C 5: 122,520,303 (GRCm39) probably benign Het
Gprin3 T C 6: 59,331,644 (GRCm39) N221S probably benign Het
Hfm1 T C 5: 107,022,079 (GRCm39) E989G possibly damaging Het
Ints1 T C 5: 139,743,847 (GRCm39) probably null Het
Josd2 T C 7: 44,120,592 (GRCm39) S110P probably damaging Het
Kat14 C A 2: 144,217,873 (GRCm39) T123K probably damaging Het
Lamtor1 C T 7: 101,558,971 (GRCm39) T48I probably damaging Het
Lrrc24 A G 15: 76,602,546 (GRCm39) L113P probably damaging Het
Lrrc37 T C 11: 103,504,286 (GRCm39) T2561A possibly damaging Het
Mog T C 17: 37,331,433 (GRCm39) E89G probably damaging Het
Mon2 A G 10: 122,874,364 (GRCm39) probably null Het
Mtx1 T C 3: 89,121,205 (GRCm39) Y143C probably benign Het
Nacad T C 11: 6,548,507 (GRCm39) E1409G possibly damaging Het
Ndst3 T C 3: 123,400,676 (GRCm39) H410R probably damaging Het
Nkx6-2 T C 7: 139,161,486 (GRCm39) E233G possibly damaging Het
Oas1h A G 5: 121,000,846 (GRCm39) E152G probably damaging Het
Or8g22 A G 9: 38,958,158 (GRCm39) S186P probably damaging Het
Ovgp1 T C 3: 105,887,269 (GRCm39) F222L possibly damaging Het
Pkhd1 T C 1: 20,358,429 (GRCm39) S2716G probably null Het
Pla2g4e T C 2: 120,001,718 (GRCm39) T644A probably benign Het
Plxnd1 A G 6: 115,932,726 (GRCm39) I1918T probably damaging Het
Psmg1 A T 16: 95,790,812 (GRCm39) probably benign Het
Ptprd G A 4: 76,047,136 (GRCm39) R364C probably damaging Het
Rgs22 T C 15: 36,026,088 (GRCm39) I945V possibly damaging Het
Rgs7bp T C 13: 105,088,072 (GRCm39) N234S probably benign Het
Rrp7a T C 15: 83,004,010 (GRCm39) probably benign Het
Scg2 T A 1: 79,414,193 (GRCm39) R177* probably null Het
Sema4c C A 1: 36,589,392 (GRCm39) C578F probably damaging Het
Slc1a5 T A 7: 16,531,668 (GRCm39) probably benign Het
Slc5a3 A G 16: 91,875,571 (GRCm39) T543A possibly damaging Het
Slx4ip T A 2: 136,888,687 (GRCm39) F123I probably benign Het
Smtn C T 11: 3,472,916 (GRCm39) R737H probably damaging Het
Stox2 A G 8: 47,866,300 (GRCm39) I14T possibly damaging Het
Stradb T C 1: 59,019,599 (GRCm39) F43L probably benign Het
Szt2 T C 4: 118,245,866 (GRCm39) D1029G probably benign Het
Taar6 T C 10: 23,860,613 (GRCm39) Y311C probably damaging Het
Tcea3 A T 4: 135,995,404 (GRCm39) N249I probably damaging Het
Tecta A G 9: 42,241,573 (GRCm39) M2134T probably benign Het
Tg G A 15: 66,636,186 (GRCm39) G591D probably damaging Het
Tm4sf20 T A 1: 82,746,084 (GRCm39) I19F probably benign Het
Top2a T C 11: 98,888,676 (GRCm39) K1262E probably benign Het
Ube2r2 A G 4: 41,190,742 (GRCm39) probably benign Het
Usp29 T C 7: 6,964,927 (GRCm39) S257P possibly damaging Het
Usp40 T C 1: 87,880,077 (GRCm39) N1038S probably benign Het
Utp25 A T 1: 192,797,262 (GRCm39) M530K probably damaging Het
Vmn1r121 C T 7: 20,831,538 (GRCm39) E301K probably benign Het
Vmn2r49 T A 7: 9,722,959 (GRCm39) H105L probably benign Het
Zgrf1 C T 3: 127,355,517 (GRCm39) Q248* probably null 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
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'- AACTACAGGTGTGTGAGGCTCC -3'
(R):5'- ACTGTGTACCACTTGGCTGC -3'

Sequencing Primer
(F):5'- AGGCTCCACCCCCTGTAC -3'
(R):5'- ACTTGGCTGCTGCTGAAC -3'
Posted On 2016-04-27