Incidental Mutation 'R3896:Arhgap20'
ID 310548
Institutional Source Beutler Lab
Gene Symbol Arhgap20
Ensembl Gene ENSMUSG00000053199
Gene Name Rho GTPase activating protein 20
Synonyms 6530403F17Rik, A530023E23Rik
MMRRC Submission 040807-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.329) question?
Stock # R3896 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 51676651-51765158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51728137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 117 (I117F)
Ref Sequence ENSEMBL: ENSMUSP00000065633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065496] [ENSMUST00000130405]
AlphaFold Q6IFT4
Predicted Effect probably damaging
Transcript: ENSMUST00000065496
AA Change: I117F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: I117F

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 possibly damaging
Transcript: ENSMUST00000130405
AA Change: I81F

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: I81F

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 0.0710 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A T 3: 146,356,868 (GRCm39) N13K possibly damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Asz1 A G 6: 18,075,766 (GRCm39) I269T probably benign Het
Atp8a2 C A 14: 60,263,589 (GRCm39) probably null Het
Atp8b2 A T 3: 89,864,626 (GRCm39) I163K probably damaging Het
Casd1 T A 6: 4,640,980 (GRCm39) F700L probably damaging Het
Ccdc80 A G 16: 44,916,984 (GRCm39) D580G probably benign Het
Cog7 C T 7: 121,540,392 (GRCm39) probably benign Het
Cyp2c66 T C 19: 39,130,722 (GRCm39) V112A possibly damaging Het
D130040H23Rik T A 8: 69,755,610 (GRCm39) C356S probably damaging Het
Emb A G 13: 117,409,598 (GRCm39) *331W probably null Het
Enpp3 A C 10: 24,653,847 (GRCm39) S703R possibly damaging Het
Fam13b T C 18: 34,596,008 (GRCm39) probably benign Het
Foxp1 T A 6: 99,052,897 (GRCm39) Q97L probably benign Het
Gdf10 A T 14: 33,656,438 (GRCm39) N467Y probably damaging Het
Gm29394 C T 15: 57,912,024 (GRCm39) probably benign Het
Gsn T C 2: 35,192,650 (GRCm39) S522P possibly damaging Het
Hydin T A 8: 111,235,711 (GRCm39) F1899I possibly damaging Het
Ints1 C A 5: 139,743,399 (GRCm39) E1658* probably null Het
Jakmip2 A T 18: 43,682,751 (GRCm39) F691Y probably benign Het
Klhl28 A G 12: 65,004,333 (GRCm39) F60S probably damaging Het
Loxhd1 C T 18: 77,469,719 (GRCm39) S992L possibly damaging Het
Lrp1b A T 2: 40,812,440 (GRCm39) probably null Het
Macf1 A T 4: 123,364,987 (GRCm39) I3258N possibly damaging Het
Map4k2 G T 19: 6,391,958 (GRCm39) E91* probably null Het
Matcap1 T A 8: 106,009,920 (GRCm39) H343L probably benign Het
Myo1b A T 1: 51,812,420 (GRCm39) V739E probably damaging Het
Naa35 C T 13: 59,755,109 (GRCm39) T185I probably damaging Het
Or10v9 T C 19: 11,832,951 (GRCm39) D122G probably damaging Het
Or4c15b A G 2: 89,113,441 (GRCm39) F33S possibly damaging Het
Reg4 A T 3: 98,132,082 (GRCm39) probably benign Het
Rnaseh2b A C 14: 62,597,906 (GRCm39) probably benign Het
Rnf123 G A 9: 107,946,302 (GRCm39) probably benign Het
Scn8a A T 15: 100,933,379 (GRCm39) M1528L probably benign Het
Sdr16c5 T A 4: 4,006,609 (GRCm39) T228S probably damaging Het
Sgo2a T C 1: 58,052,805 (GRCm39) C202R probably damaging Het
Slc25a46 A G 18: 31,716,725 (GRCm39) L259P probably damaging Het
Slc4a4 A G 5: 89,345,625 (GRCm39) probably benign Het
Sox14 G T 9: 99,757,636 (GRCm39) H34Q probably damaging Het
Syna T A 5: 134,587,165 (GRCm39) K595* probably null Het
Taf4 A G 2: 179,573,807 (GRCm39) V687A probably benign Het
Tmbim7 C T 5: 3,711,916 (GRCm39) H54Y probably benign Het
Vmn1r212 T C 13: 23,068,067 (GRCm39) M89V probably benign Het
Vmn1r86 T C 7: 12,836,093 (GRCm39) Y261C probably benign Het
Xkr4 A G 1: 3,286,414 (GRCm39) I592T probably damaging Het
Ywhah A G 5: 33,184,349 (GRCm39) Y184C probably damaging Het
Zkscan16 C T 4: 58,946,125 (GRCm39) probably benign 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
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
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'- TGTCGGCCTCTACTGTAGAAATC -3'
(R):5'- CACTGCATGCACATGGAAAA -3'

Sequencing Primer
(F):5'- ATGCGCATTTGACTGACAGC -3'
(R):5'- GCCAGACCAAGTAGAGAATG -3'
Posted On 2015-04-17