Incidental Mutation 'R8046:Arhgap18'
ID 618763
Institutional Source Beutler Lab
Gene Symbol Arhgap18
Ensembl Gene ENSMUSG00000039031
Gene Name Rho GTPase activating protein 18
Synonyms 4833419J07Rik
MMRRC Submission 067483-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8046 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 26648363-26794644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26763853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 481 (V481A)
Ref Sequence ENSEMBL: ENSMUSP00000044834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039557]
AlphaFold Q8K0Q5
Predicted Effect probably damaging
Transcript: ENSMUST00000039557
AA Change: V481A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031
AA Change: V481A

DomainStartEndE-ValueType
low complexity region 100 114 N/A INTRINSIC
RhoGAP 340 520 8.99e-42 SMART
coiled coil region 535 557 N/A INTRINSIC
Blast:RhoGAP 572 613 1e-13 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G T 5: 77,044,325 (GRCm39) D188E probably benign Het
Ahcyl2 T C 6: 29,878,619 (GRCm39) L273P probably damaging Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Angpt1 T C 15: 42,359,752 (GRCm39) T227A probably benign Het
Ankle1 C T 8: 71,860,665 (GRCm39) T374M probably damaging Het
Astn2 A T 4: 66,184,587 (GRCm39) L170* probably null Het
Bms1 T C 6: 118,385,105 (GRCm39) T368A probably benign Het
Boll A G 1: 55,385,562 (GRCm39) I121T probably damaging Het
Brca1 A C 11: 101,416,296 (GRCm39) C613G probably benign Het
Cdk14 T A 5: 5,299,159 (GRCm39) I65F possibly damaging Het
Chn1 T C 2: 73,448,363 (GRCm39) D335G probably damaging Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Col12a1 A G 9: 79,613,508 (GRCm39) probably null Het
Cplane2 A C 4: 140,947,348 (GRCm39) Q243P probably damaging Het
Crtac1 T C 19: 42,297,492 (GRCm39) probably benign Het
Dhx40 A T 11: 86,675,766 (GRCm39) C507* probably null Het
Dok2 A G 14: 71,015,482 (GRCm39) D403G probably damaging Het
Eif1ad14 T C 12: 87,886,335 (GRCm39) D98G probably benign Het
Eif2b5 A G 16: 20,325,154 (GRCm39) T556A possibly damaging Het
Eml6 A T 11: 29,708,981 (GRCm39) V1480E probably damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Glra1 A G 11: 55,427,225 (GRCm39) S120P probably damaging Het
Habp4 T C 13: 64,322,656 (GRCm39) S242P probably benign Het
Igkv12-46 A G 6: 69,741,570 (GRCm39) I95T probably damaging Het
Itch G T 2: 155,052,422 (GRCm39) G674V probably damaging Het
Itpr2 A G 6: 146,327,957 (GRCm39) L92P probably damaging Het
Kcnk2 A G 1: 188,990,933 (GRCm39) probably null Het
Krt75 T C 15: 101,481,199 (GRCm39) T192A probably benign Het
Lrp1b T A 2: 41,159,199 (GRCm39) K1694N Het
Lrrc14 A G 15: 76,598,731 (GRCm39) K456E possibly damaging Het
Map1lc3a G T 2: 155,119,129 (GRCm39) probably benign Het
Naip5 T A 13: 100,358,741 (GRCm39) M832L probably benign Het
Nectin1 A G 9: 43,703,798 (GRCm39) T263A probably benign Het
Nnt A T 13: 119,511,286 (GRCm39) M330K probably damaging Het
Nrap T C 19: 56,308,683 (GRCm39) N1711D possibly damaging Het
Olfm1 A G 2: 28,119,135 (GRCm39) N285D possibly damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or51ab3 T A 7: 103,201,584 (GRCm39) S197R possibly damaging Het
Or8b8 A T 9: 37,808,685 (GRCm39) probably benign Het
Pag1 A G 3: 9,764,482 (GRCm39) Y224H probably damaging Het
Pde8a T C 7: 80,958,587 (GRCm39) C322R possibly damaging Het
Pde8a A T 7: 80,967,118 (GRCm39) T420S probably benign Het
Per2 A C 1: 91,363,425 (GRCm39) L365R possibly damaging Het
Pml A G 9: 58,154,256 (GRCm39) probably null Het
Ppp1r1a T A 15: 103,446,305 (GRCm39) M1L possibly damaging Het
Ppp3r2 G T 4: 49,681,913 (GRCm39) C12* probably null Het
Rbm20 C A 19: 53,806,402 (GRCm39) A494D probably benign Het
Scyl1 C T 19: 5,810,620 (GRCm39) R531Q possibly damaging Het
Skp2 C A 15: 9,139,687 (GRCm39) V38F probably damaging Het
Slc27a3 A G 3: 90,296,974 (GRCm39) C42R probably damaging Het
Tekt5 A G 16: 10,213,277 (GRCm39) F3L probably benign Het
Tmem200c A G 17: 69,147,513 (GRCm39) K32R probably benign Het
Tmprss11f T A 5: 86,676,132 (GRCm39) R350W probably damaging Het
Tph2 A T 10: 115,015,499 (GRCm39) I121N possibly damaging Het
Trim37 A G 11: 87,037,794 (GRCm39) D176G possibly damaging Het
Trpc4 A T 3: 54,102,335 (GRCm39) I78F probably damaging Het
Ttn T C 2: 76,609,829 (GRCm39) K17526E probably damaging Het
Tuba8 A C 6: 121,199,832 (GRCm39) Y172S probably damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Urb2 A T 8: 124,754,771 (GRCm39) R159S possibly damaging Het
Usp25 T A 16: 76,906,063 (GRCm39) C840S probably damaging Het
Vmn1r36 T A 6: 66,692,964 (GRCm39) K304* probably null Het
Vmn1r37 C A 6: 66,708,656 (GRCm39) T94N probably damaging Het
Vmn2r7 T C 3: 64,614,479 (GRCm39) N445S probably damaging Het
Wnk4 G A 11: 101,164,918 (GRCm39) G749D probably benign Het
Wscd2 G A 5: 113,689,176 (GRCm39) V61I probably benign Het
Zfp85 T A 13: 67,897,098 (GRCm39) R325* probably null Het
Other mutations in Arhgap18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Arhgap18 APN 10 26,756,744 (GRCm39) missense possibly damaging 0.75
IGL02393:Arhgap18 APN 10 26,753,179 (GRCm39) missense probably benign 0.07
IGL03368:Arhgap18 APN 10 26,648,689 (GRCm39) missense possibly damaging 0.60
Half_pint UTSW 10 26,648,694 (GRCm39) critical splice donor site probably null
R0698:Arhgap18 UTSW 10 26,788,625 (GRCm39) missense probably damaging 1.00
R1456:Arhgap18 UTSW 10 26,792,436 (GRCm39) missense probably benign 0.29
R1532:Arhgap18 UTSW 10 26,736,718 (GRCm39) missense possibly damaging 0.69
R1768:Arhgap18 UTSW 10 26,763,858 (GRCm39) missense probably damaging 1.00
R1768:Arhgap18 UTSW 10 26,763,857 (GRCm39) missense probably damaging 1.00
R1793:Arhgap18 UTSW 10 26,736,732 (GRCm39) unclassified probably benign
R1867:Arhgap18 UTSW 10 26,722,026 (GRCm39) missense probably damaging 0.99
R2020:Arhgap18 UTSW 10 26,730,900 (GRCm39) missense probably benign
R2049:Arhgap18 UTSW 10 26,725,938 (GRCm39) missense probably benign 0.00
R2056:Arhgap18 UTSW 10 26,730,904 (GRCm39) missense probably benign 0.03
R2058:Arhgap18 UTSW 10 26,730,904 (GRCm39) missense probably benign 0.03
R2986:Arhgap18 UTSW 10 26,730,903 (GRCm39) missense probably benign 0.00
R3027:Arhgap18 UTSW 10 26,722,092 (GRCm39) missense probably benign
R5103:Arhgap18 UTSW 10 26,745,978 (GRCm39) missense probably damaging 1.00
R5468:Arhgap18 UTSW 10 26,788,667 (GRCm39) missense probably damaging 0.99
R5532:Arhgap18 UTSW 10 26,722,104 (GRCm39) missense possibly damaging 0.56
R5710:Arhgap18 UTSW 10 26,736,729 (GRCm39) splice site probably null
R6019:Arhgap18 UTSW 10 26,736,646 (GRCm39) missense probably damaging 0.98
R6190:Arhgap18 UTSW 10 26,722,031 (GRCm39) start codon destroyed probably null 0.22
R6346:Arhgap18 UTSW 10 26,722,061 (GRCm39) missense probably damaging 1.00
R6438:Arhgap18 UTSW 10 26,648,694 (GRCm39) critical splice donor site probably null
R6572:Arhgap18 UTSW 10 26,722,412 (GRCm39) splice site probably null
R6799:Arhgap18 UTSW 10 26,725,917 (GRCm39) missense possibly damaging 0.57
R6844:Arhgap18 UTSW 10 26,648,682 (GRCm39) missense probably benign 0.04
R7051:Arhgap18 UTSW 10 26,725,917 (GRCm39) missense possibly damaging 0.57
R7084:Arhgap18 UTSW 10 26,748,734 (GRCm39) missense possibly damaging 0.77
R7727:Arhgap18 UTSW 10 26,746,007 (GRCm39) missense possibly damaging 0.83
R8252:Arhgap18 UTSW 10 26,730,932 (GRCm39) missense probably benign 0.00
R8392:Arhgap18 UTSW 10 26,721,936 (GRCm39) missense probably benign 0.38
R8485:Arhgap18 UTSW 10 26,722,104 (GRCm39) missense probably benign 0.05
R9132:Arhgap18 UTSW 10 26,730,886 (GRCm39) missense probably benign
R9159:Arhgap18 UTSW 10 26,730,886 (GRCm39) missense probably benign
R9245:Arhgap18 UTSW 10 26,722,107 (GRCm39) missense possibly damaging 0.71
R9375:Arhgap18 UTSW 10 26,648,610 (GRCm39) missense probably damaging 1.00
R9597:Arhgap18 UTSW 10 26,788,655 (GRCm39) missense probably damaging 1.00
Z1088:Arhgap18 UTSW 10 26,726,000 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GAAGGCCTTTTAGAGTTAAATGTGC -3'
(R):5'- ACTTGCCAGAAGGAATGCAG -3'

Sequencing Primer
(F):5'- GTATGACAGAACTCTTGGTC -3'
(R):5'- GACACCCAATACTTTGTACACTGATG -3'
Posted On 2020-01-23