Incidental Mutation 'R8783:Arhgap20'
ID 700909
Institutional Source Beutler Lab
Gene Symbol Arhgap20
Ensembl Gene ENSMUSG00000053199
Gene Name Rho GTPase activating protein 20
Synonyms 6530403F17Rik, A530023E23Rik
MMRRC Submission 068631-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.329) question?
Stock # R8783 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 51676651-51765158 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 51727967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065496] [ENSMUST00000130405]
AlphaFold Q6IFT4
Predicted Effect probably benign
Transcript: ENSMUST00000065496
SMART Domains Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199

DomainStartEndE-ValueType
PH 86 187 3.31e-5 SMART
Pfam:RA 194 283 3.6e-15 PFAM
RhoGAP 374 548 1.27e-41 SMART
internal_repeat_1 655 779 9.97e-15 PROSPERO
internal_repeat_1 797 922 9.97e-15 PROSPERO
low complexity region 935 962 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130405
SMART Domains Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199

DomainStartEndE-ValueType
PH 50 151 3.31e-5 SMART
Pfam:RA 158 247 3.3e-14 PFAM
RhoGAP 338 512 1.27e-41 SMART
internal_repeat_1 619 743 7.07e-15 PROSPERO
internal_repeat_1 761 886 7.07e-15 PROSPERO
low complexity region 899 926 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik T A 13: 54,700,520 (GRCm39) M273L probably benign Het
Aars1 A G 8: 111,776,515 (GRCm39) N657S probably benign Het
Ahnak A T 19: 8,988,837 (GRCm39) N3374Y probably damaging Het
Ank2 T C 3: 126,846,455 (GRCm39) E180G probably damaging Het
Armc5 G A 7: 127,837,425 (GRCm39) A43T probably damaging Het
Atad3a T A 4: 155,840,152 (GRCm39) D142V probably damaging Het
B4galnt4 A T 7: 140,643,759 (GRCm39) K54M probably damaging Het
Bcl11b T C 12: 107,883,562 (GRCm39) E251G probably damaging Het
Bptf A G 11: 107,022,357 (GRCm39) V131A unknown Het
Btbd7 T A 12: 102,754,501 (GRCm39) H755L probably benign Het
Cadps2 A G 6: 23,302,303 (GRCm39) V1128A possibly damaging Het
Ccl2 T C 11: 81,927,360 (GRCm39) I43T probably damaging Het
Cdc25b T G 2: 131,033,772 (GRCm39) S207A probably benign Het
Chd4 A G 6: 125,100,347 (GRCm39) T1725A possibly damaging Het
Cmya5 A T 13: 93,225,888 (GRCm39) S3067T possibly damaging Het
Col9a3 G A 2: 180,255,970 (GRCm39) D448N probably damaging Het
Cpxm1 C A 2: 130,237,643 (GRCm39) R187S probably benign Het
Cramp1 T A 17: 25,193,732 (GRCm39) N916I probably damaging Het
Creld1 A G 6: 113,468,686 (GRCm39) Y269C probably damaging Het
Ctsz G T 2: 174,280,675 (GRCm39) S6* probably null Het
Cul7 T C 17: 46,966,575 (GRCm39) S633P probably benign Het
Eci2 T A 13: 35,174,180 (GRCm39) N160I probably damaging Het
Eef2 T A 10: 81,015,499 (GRCm39) M340K probably damaging Het
Enpp6 A T 8: 47,440,220 (GRCm39) Y72F possibly damaging Het
Erbb4 A C 1: 68,079,331 (GRCm39) Y1250D possibly damaging Het
Fhad1 C T 4: 141,636,403 (GRCm39) V1146M probably benign Het
Fryl T C 5: 73,226,185 (GRCm39) Y1826C probably benign Het
Gm3252 A G 14: 4,743,761 (GRCm38) K200E probably benign Het
Gramd1a T C 7: 30,832,220 (GRCm39) T640A possibly damaging Het
Gse1 A T 8: 121,303,117 (GRCm39) Q1086L unknown Het
Gtf2f2 C A 14: 76,245,164 (GRCm39) G41W probably damaging Het
Hhat A G 1: 192,196,245 (GRCm39) Y483H probably damaging Het
Ifna13 T A 4: 88,562,526 (GRCm39) R33W probably damaging Het
Ighg2c T A 12: 113,252,412 (GRCm39) S47C Het
Ing5 A T 1: 93,740,154 (GRCm39) D101V probably damaging Het
Kif23 T C 9: 61,834,853 (GRCm39) T379A probably benign Het
Ltn1 A T 16: 87,207,247 (GRCm39) S898T probably benign Het
Mep1a T C 17: 43,789,081 (GRCm39) D578G probably benign Het
Mgam A T 6: 40,633,423 (GRCm39) H243L probably damaging Het
Mlf1 G A 3: 67,291,997 (GRCm39) R54H probably benign Het
Mtus2 A T 5: 148,019,861 (GRCm39) K752M probably damaging Het
Muc21 T C 17: 35,930,875 (GRCm39) T1104A unknown Het
Mup18 T A 4: 61,591,767 (GRCm39) D53V probably benign Het
Neb A T 2: 52,148,644 (GRCm39) D2634E probably damaging Het
Nfatc3 A T 8: 106,825,784 (GRCm39) I620F possibly damaging Het
Nrg1 A T 8: 32,448,629 (GRCm39) L104Q probably benign Het
Nsd2 T A 5: 34,036,455 (GRCm39) D646E possibly damaging Het
Or10w1 A T 19: 13,632,323 (GRCm39) R177W probably damaging Het
Or4p19 T C 2: 88,242,951 (GRCm39) N17S probably benign Het
Or51ai2 A T 7: 103,586,751 (GRCm39) T55S possibly damaging Het
Pbp2 T C 6: 135,287,330 (GRCm39) S6G probably benign Het
Pcdhga5 T C 18: 37,828,596 (GRCm39) I348T probably benign Het
Pdxk A G 10: 78,287,339 (GRCm39) V74A probably benign Het
Pdzrn3 C T 6: 101,132,841 (GRCm39) R469H probably damaging Het
Pla2g4a A T 1: 149,740,741 (GRCm39) S395R probably damaging Het
Polr2i A G 7: 29,931,790 (GRCm39) Y7C possibly damaging Het
Psmc5 A T 11: 106,153,858 (GRCm39) K397N possibly damaging Het
Ptprz1 A G 6: 23,002,026 (GRCm39) D1372G probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rapgef2 A T 3: 79,005,651 (GRCm39) V181E probably damaging Het
Rassf3 T G 10: 121,253,069 (GRCm39) N46T probably benign Het
Rnf123 T C 9: 107,946,272 (GRCm39) E301G probably benign Het
Sec24b T A 3: 129,783,342 (GRCm39) M1099L probably benign Het
Shisa4 A G 1: 135,300,944 (GRCm39) C109R probably damaging Het
Slc7a1 T A 5: 148,279,643 (GRCm39) E237V probably benign Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Tas2r105 A G 6: 131,663,732 (GRCm39) I232T possibly damaging Het
Tas2r136 T C 6: 132,754,612 (GRCm39) T172A probably benign Het
Tdpoz8 A G 3: 92,981,780 (GRCm39) Y192C probably damaging Het
Trim6 G A 7: 103,874,853 (GRCm39) C30Y probably damaging Het
Trim65 T A 11: 116,017,143 (GRCm39) N440Y probably damaging Het
Ttn A C 2: 76,573,694 (GRCm39) I25733S probably damaging Het
Ttn T G 2: 76,619,358 (GRCm39) T16035P probably damaging Het
Vmn2r73 A T 7: 85,507,668 (GRCm39) M548K probably damaging Het
Vmn2r88 A T 14: 51,651,523 (GRCm39) E279V Het
Wfdc8 G A 2: 164,447,769 (GRCm39) S97F probably benign Het
Wrn G A 8: 33,826,041 (GRCm39) A207V probably null Het
Xrcc2 T C 5: 25,897,217 (GRCm39) D244G possibly damaging Het
Zfp251 C T 15: 76,737,413 (GRCm39) G560E probably damaging Het
Other mutations in Arhgap20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Arhgap20 APN 9 51,760,713 (GRCm39) missense probably benign 0.00
IGL01542:Arhgap20 APN 9 51,750,187 (GRCm39) missense probably benign
IGL01815:Arhgap20 APN 9 51,757,468 (GRCm39) missense probably damaging 1.00
IGL01975:Arhgap20 APN 9 51,761,097 (GRCm39) nonsense probably null
IGL02041:Arhgap20 APN 9 51,757,490 (GRCm39) missense possibly damaging 0.92
IGL02557:Arhgap20 APN 9 51,732,573 (GRCm39) missense probably damaging 1.00
IGL02602:Arhgap20 APN 9 51,737,143 (GRCm39) missense probably damaging 1.00
IGL02741:Arhgap20 APN 9 51,759,945 (GRCm39) missense probably benign 0.17
IGL02792:Arhgap20 APN 9 51,761,218 (GRCm39) missense possibly damaging 0.89
IGL03166:Arhgap20 APN 9 51,761,077 (GRCm39) missense possibly damaging 0.63
P0047:Arhgap20 UTSW 9 51,760,536 (GRCm39) missense probably damaging 1.00
R0115:Arhgap20 UTSW 9 51,750,272 (GRCm39) missense probably damaging 1.00
R0121:Arhgap20 UTSW 9 51,750,251 (GRCm39) missense possibly damaging 0.91
R0539:Arhgap20 UTSW 9 51,761,455 (GRCm39) missense probably benign 0.01
R0541:Arhgap20 UTSW 9 51,760,963 (GRCm39) missense probably damaging 1.00
R0551:Arhgap20 UTSW 9 51,737,125 (GRCm39) splice site probably benign
R0570:Arhgap20 UTSW 9 51,751,751 (GRCm39) missense possibly damaging 0.56
R0630:Arhgap20 UTSW 9 51,760,684 (GRCm39) missense probably damaging 0.98
R0931:Arhgap20 UTSW 9 51,728,041 (GRCm39) missense probably benign 0.30
R0992:Arhgap20 UTSW 9 51,728,086 (GRCm39) missense probably damaging 0.96
R1052:Arhgap20 UTSW 9 51,757,570 (GRCm39) missense probably damaging 0.98
R1779:Arhgap20 UTSW 9 51,761,215 (GRCm39) missense probably benign
R1839:Arhgap20 UTSW 9 51,760,626 (GRCm39) missense probably damaging 0.99
R1942:Arhgap20 UTSW 9 51,742,998 (GRCm39) missense probably benign 0.43
R2292:Arhgap20 UTSW 9 51,760,743 (GRCm39) missense possibly damaging 0.63
R3896:Arhgap20 UTSW 9 51,728,137 (GRCm39) missense probably damaging 0.96
R4109:Arhgap20 UTSW 9 51,727,985 (GRCm39) missense possibly damaging 0.60
R4166:Arhgap20 UTSW 9 51,738,135 (GRCm39) critical splice acceptor site probably null
R4631:Arhgap20 UTSW 9 51,751,653 (GRCm39) intron probably benign
R4692:Arhgap20 UTSW 9 51,697,088 (GRCm39) missense probably damaging 1.00
R5273:Arhgap20 UTSW 9 51,759,916 (GRCm39) missense probably damaging 1.00
R5505:Arhgap20 UTSW 9 51,750,248 (GRCm39) missense probably damaging 0.98
R5743:Arhgap20 UTSW 9 51,728,027 (GRCm39) missense probably benign 0.17
R5847:Arhgap20 UTSW 9 51,736,276 (GRCm39) intron probably benign
R6006:Arhgap20 UTSW 9 51,761,426 (GRCm39) missense probably benign
R6112:Arhgap20 UTSW 9 51,740,684 (GRCm39) missense probably damaging 1.00
R6355:Arhgap20 UTSW 9 51,755,020 (GRCm39) missense probably damaging 1.00
R6576:Arhgap20 UTSW 9 51,760,578 (GRCm39) missense probably benign 0.03
R6801:Arhgap20 UTSW 9 51,759,892 (GRCm39) missense probably damaging 1.00
R7130:Arhgap20 UTSW 9 51,761,047 (GRCm39) missense probably damaging 0.98
R7318:Arhgap20 UTSW 9 51,751,802 (GRCm39) missense probably benign
R7347:Arhgap20 UTSW 9 51,760,335 (GRCm39) missense probably benign 0.07
R7500:Arhgap20 UTSW 9 51,751,802 (GRCm39) missense probably benign
R7598:Arhgap20 UTSW 9 51,761,090 (GRCm39) missense possibly damaging 0.95
R7677:Arhgap20 UTSW 9 51,751,698 (GRCm39) missense probably damaging 0.97
R7725:Arhgap20 UTSW 9 51,743,050 (GRCm39) missense possibly damaging 0.80
R8086:Arhgap20 UTSW 9 51,760,563 (GRCm39) missense probably benign 0.00
R8122:Arhgap20 UTSW 9 51,761,293 (GRCm39) missense probably damaging 0.99
R8125:Arhgap20 UTSW 9 51,738,209 (GRCm39) missense probably damaging 0.99
R8196:Arhgap20 UTSW 9 51,760,277 (GRCm39) missense possibly damaging 0.94
R8972:Arhgap20 UTSW 9 51,760,311 (GRCm39) missense probably benign 0.03
R9027:Arhgap20 UTSW 9 51,754,977 (GRCm39) missense probably damaging 1.00
R9427:Arhgap20 UTSW 9 51,754,991 (GRCm39) missense probably damaging 1.00
R9564:Arhgap20 UTSW 9 51,761,413 (GRCm39) frame shift probably null
R9741:Arhgap20 UTSW 9 51,760,730 (GRCm39) nonsense probably null
Z1177:Arhgap20 UTSW 9 51,736,224 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTGTGCAGAATCAGCAGTG -3'
(R):5'- GTGGTCTCCATTAGAAGAAATTCGC -3'

Sequencing Primer
(F):5'- TGTGCAGAATCAGCAGTGAGGTC -3'
(R):5'- CAATTACTTGCGCCATATGCAG -3'
Posted On 2022-03-10