Incidental Mutation 'R6019:Arhgap18'
ID 478802
Institutional Source Beutler Lab
Gene Symbol Arhgap18
Ensembl Gene ENSMUSG00000039031
Gene Name Rho GTPase activating protein 18
Synonyms 4833419J07Rik
MMRRC Submission 044193-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6019 (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 A at 26736646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 163 (V163E)
Ref Sequence ENSEMBL: ENSMUSP00000135030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039557] [ENSMUST00000176060]
AlphaFold Q8K0Q5
Predicted Effect probably damaging
Transcript: ENSMUST00000039557
AA Change: V235E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044834
Gene: ENSMUSG00000039031
AA Change: V235E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142284
Predicted Effect probably damaging
Transcript: ENSMUST00000176060
AA Change: V163E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135030
Gene: ENSMUSG00000039031
AA Change: V163E

DomainStartEndE-ValueType
low complexity region 28 42 N/A INTRINSIC
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 96% (81/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,201 (GRCm39) H436Y possibly damaging Het
Acad10 A T 5: 121,772,864 (GRCm39) H472Q possibly damaging Het
Ano8 G A 8: 71,935,024 (GRCm39) R393C probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacng5 T C 11: 107,775,214 (GRCm39) M52V probably benign Het
Casz1 T C 4: 149,031,495 (GRCm39) C1249R probably damaging Het
Cenpj C T 14: 56,772,272 (GRCm39) S1086N probably benign Het
Chi3l1 T C 1: 134,117,310 (GRCm39) F367S probably benign Het
Copg2 A T 6: 30,787,868 (GRCm39) I610N possibly damaging Het
Cpa6 T C 1: 10,665,868 (GRCm39) K57E possibly damaging Het
D5Ertd579e C T 5: 36,787,036 (GRCm39) A111T possibly damaging Het
Dgat2 A G 7: 98,803,838 (GRCm39) M361T probably benign Het
Dnm3 G T 1: 161,962,070 (GRCm39) F46L probably damaging Het
Dph7 T A 2: 24,853,552 (GRCm39) C122* probably null Het
Dspp A T 5: 104,325,905 (GRCm39) D756V unknown Het
Efcab3 T C 11: 104,933,728 (GRCm39) probably null Het
Ep300 T A 15: 81,525,583 (GRCm39) M1469K unknown Het
Fsip2 T C 2: 82,818,283 (GRCm39) I4672T possibly damaging Het
Gapdh A T 6: 125,139,996 (GRCm39) L67* probably null Het
Gpr75 A G 11: 30,841,640 (GRCm39) R182G probably benign Het
Gsr G T 8: 34,183,835 (GRCm39) A366S probably damaging Het
Gypc A G 18: 32,663,248 (GRCm39) I33T probably damaging Het
Hapln1 A G 13: 89,756,219 (GRCm39) D341G probably benign Het
Hnrnpd A G 5: 100,115,095 (GRCm39) S148P probably benign Het
Hydin A T 8: 111,293,252 (GRCm39) T3450S probably benign Het
Kif20b T C 19: 34,927,864 (GRCm39) V1002A probably benign Het
Kif5c T C 2: 49,625,521 (GRCm39) V597A probably benign Het
Kntc1 A G 5: 123,900,579 (GRCm39) T226A probably benign Het
Krt75 C A 15: 101,482,158 (GRCm39) V37L probably benign Het
L3mbtl2 A G 15: 81,571,143 (GRCm39) I668V probably benign Het
Lrp1b G A 2: 41,192,982 (GRCm39) A480V probably damaging Het
Lrp1b T A 2: 41,366,821 (GRCm39) D485V probably damaging Het
Lrrc37a T C 11: 103,347,422 (GRCm39) H3091R unknown Het
Msi1 A G 5: 115,589,550 (GRCm39) Y361C probably damaging Het
Mtus1 G T 8: 41,536,077 (GRCm39) N546K probably benign Het
Mup17 T A 4: 61,511,936 (GRCm39) T113S probably benign Het
Myh11 T A 16: 14,023,938 (GRCm39) D1479V probably damaging Het
Ncor1 C T 11: 62,263,987 (GRCm39) E198K probably benign Het
Nrde2 A G 12: 100,098,501 (GRCm39) V722A probably benign Het
Or13a28 T C 7: 140,217,925 (GRCm39) F104L probably benign Het
Or51f23 C T 7: 102,453,491 (GRCm39) R269* probably null Het
Or5ac24 C T 16: 59,165,798 (GRCm39) D89N possibly damaging Het
Otog A G 7: 45,938,374 (GRCm39) M2028V probably benign Het
Paox T A 7: 139,711,655 (GRCm39) V169E probably damaging Het
Pcsk9 T G 4: 106,314,073 (GRCm39) D174A probably benign Het
Pde4b A G 4: 102,427,966 (GRCm39) E41G possibly damaging Het
Pip4k2c A G 10: 127,034,943 (GRCm39) I419T probably damaging Het
Plekhg3 G T 12: 76,624,715 (GRCm39) E1186* probably null Het
Pole C A 5: 110,472,380 (GRCm39) P1548T probably benign Het
Pole C T 5: 110,472,381 (GRCm39) P1548L probably benign Het
Polq A G 16: 36,882,126 (GRCm39) E1430G probably damaging Het
Potefam3c A T 8: 69,881,966 (GRCm39) C337S probably benign Het
Pramel47 G A 5: 95,488,072 (GRCm39) S2N probably damaging Het
Ptgr2 T C 12: 84,344,920 (GRCm39) S98P probably damaging Het
Ralgapa1 A G 12: 55,730,827 (GRCm39) Y1903H possibly damaging Het
Rasgrp1 T C 2: 117,122,376 (GRCm39) D338G probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnase13 C T 14: 52,159,860 (GRCm39) C93Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
S100z T A 13: 95,613,934 (GRCm39) M59L probably benign Het
Ska1 T A 18: 74,332,992 (GRCm39) D142V probably benign Het
Slc16a3 T C 11: 120,847,931 (GRCm39) probably null Het
Snd1 T C 6: 28,880,233 (GRCm39) V669A probably benign Het
Snrpd3 A T 10: 75,368,029 (GRCm39) T49S probably damaging Het
Sort1 T C 3: 108,264,549 (GRCm39) L856P possibly damaging Het
Srek1ip1 T A 13: 104,970,830 (GRCm39) probably null Het
Ssrp1 T C 2: 84,875,796 (GRCm39) S552P probably damaging Het
Stab2 A G 10: 86,838,886 (GRCm39) V60A probably benign Het
Stard9 GCCC GCC 2: 120,524,196 (GRCm39) probably null Het
Tll1 A C 8: 64,494,525 (GRCm39) H743Q possibly damaging Het
Tpo G T 12: 30,144,980 (GRCm39) R590S possibly damaging Het
Trbv12-1 A T 6: 41,090,780 (GRCm39) T51S probably benign Het
Trbv30 C T 6: 41,258,708 (GRCm39) A40V probably benign Het
Tulp4 T A 17: 6,283,490 (GRCm39) V1173E possibly damaging Het
Upk1a A T 7: 30,311,810 (GRCm39) probably null Het
Vinac1 T C 2: 128,879,610 (GRCm39) Q772R probably benign Het
Vmn1r199 A G 13: 22,566,769 (GRCm39) D21G possibly damaging Het
Vmn2r7 T C 3: 64,623,643 (GRCm39) T317A probably damaging Het
Wdfy3 A G 5: 101,997,289 (GRCm39) V3112A probably damaging Het
Zbtb8os T C 4: 129,234,542 (GRCm39) V40A possibly damaging Het
Zfp1002 T A 2: 150,097,132 (GRCm39) H99L probably damaging Het
Zwint A G 10: 72,492,685 (GRCm39) K108E possibly damaging 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
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
R8046:Arhgap18 UTSW 10 26,763,853 (GRCm39) missense probably damaging 0.98
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'- GCCTAGAGAAATGAATATTCTTCCC -3'
(R):5'- GCCACCAACTTTTCTGTGG -3'

Sequencing Primer
(F):5'- TAGATCAGCCATCTAGTGGG -3'
(R):5'- CAGATTTCTGAGTTCAAGGCCAGC -3'
Posted On 2017-06-26