Mutagenetix > Incidental Mutation

Incidental Mutation 'P0047:Arhgap20'

7725

Institutional Source

Beutler Lab

Gene Symbol

Arhgap20

Ensembl Gene

ENSMUSG00000053199

Gene Name

Rho GTPase activating protein 20

Synonyms

6530403F17Rik, A530023E23Rik

MMRRC Submission

038294-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

P0047 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

51676651-51765158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51760536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 760 (S760P)

Ref Sequence

ENSEMBL: ENSMUSP00000120124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065496] [ENSMUST00000130405]

AlphaFold

Q6IFT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000065496
AA Change: S796P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: S796P

Domain	Start	End	E-Value	Type
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: ENSMUST00000125400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130086

Predicted Effect

probably damaging
Transcript: ENSMUST00000130405
AA Change: S760P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: S760P

Domain	Start	End	E-Value	Type
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: ENSMUST00000142579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152203

Meta Mutation Damage Score

0.0802

Coding Region Coverage

1x: 81.2%
3x: 73.1%
10x: 47.2%
20x: 24.0%

Validation Efficiency

83% (73/88)

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cenatac	T	A	9: 44,324,506 (GRCm39)		probably benign	Het
Defa22	C	A	8: 21,653,102 (GRCm39)	C71*	probably null	Het
Fanci	A	G	7: 79,093,792 (GRCm39)	D1048G	probably damaging	Het
Kmt5b	T	A	19: 3,843,223 (GRCm39)		probably benign	Het
Nol8	T	A	13: 49,807,824 (GRCm39)		probably null	Het
Nvl	T	C	1: 180,939,867 (GRCm39)	T628A	probably damaging	Het
Pgm5	T	A	19: 24,793,785 (GRCm39)	D293V	probably damaging	Het
Pms2	A	G	5: 143,856,416 (GRCm39)	D7G	probably damaging	Het
Srrm3	G	A	5: 135,881,780 (GRCm39)		probably null	Het
Stradb	G	A	1: 59,028,957 (GRCm39)	G142S	probably null	Het
Txndc11	C	T	16: 10,909,661 (GRCm39)		probably benign	Het

Other mutations in Arhgap20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2012-10-29