Incidental Mutation 'R5847:Arhgap20'
ID 453680
Institutional Source Beutler Lab
Gene Symbol Arhgap20
Ensembl Gene ENSMUSG00000053199
Gene Name Rho GTPase activating protein 20
Synonyms 6530403F17Rik, A530023E23Rik
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.329) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 51676651-51765158 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 51736276 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 noncoding transcript
Transcript: ENSMUST00000126567
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146509
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R 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
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
R8783:Arhgap20 UTSW 9 51,727,967 (GRCm39) splice site probably benign
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'- TGTGAAGCCCGCACTGTATG -3'
(R):5'- ATCTAATCAGACCCCAGTGTTC -3'

Sequencing Primer
(F):5'- CATTTGTAACAACAGGCTGTCGG -3'
(R):5'- AATCAGACCCCAGTGTTCTCCTC -3'
Posted On 2017-02-10