Mutagenetix > Incidental Mutation

Incidental Mutation 'R0992:Arhgap20'

97775

Institutional Source

Beutler Lab

Gene Symbol

Arhgap20

Ensembl Gene

ENSMUSG00000053199

Gene Name

Rho GTPase activating protein 20

Synonyms

6530403F17Rik, A530023E23Rik

MMRRC Submission

039112-MU

Accession Numbers

Essential gene?

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

Stock #

R0992 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51676651-51765158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51728086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 100 (R100G)

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: R100G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: R100G

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: ENSMUST00000126567

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130405
AA Change: R64G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: R64G

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: ENSMUST00000146509

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.4%

Validation Efficiency

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,102,510 (GRCm39)	T905A	probably damaging	Het
Bsn	G	A	9: 107,991,553 (GRCm39)	R1400*	probably null	Het
Clstn2	A	G	9: 97,327,765 (GRCm39)	S948P	probably benign	Het
Col15a1	G	A	4: 47,300,491 (GRCm39)	V1029M	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Disc1	T	C	8: 125,814,781 (GRCm39)	I215T	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dst	A	G	1: 34,238,617 (GRCm39)	N3773S	probably damaging	Het
Gdap1	A	G	1: 17,217,329 (GRCm39)	Y96C	probably damaging	Het
Glipr1l1	A	G	10: 111,898,230 (GRCm39)	R112G	probably benign	Het
Gria4	A	G	9: 4,795,238 (GRCm39)	S13P	probably benign	Het
Noxred1	T	C	12: 87,271,000 (GRCm39)	N207S	probably benign	Het
Pom121l2	A	T	13: 22,166,929 (GRCm39)	Q400L	probably benign	Het
Sla2	T	C	2: 156,716,392 (GRCm39)	E243G	probably damaging	Het
Srpk2	A	G	5: 23,750,541 (GRCm39)	I54T	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Trim15	C	T	17: 37,175,903 (GRCm39)	V215M	probably damaging	Het
Uchl3	T	C	14: 101,905,969 (GRCm39)	I144T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCAGAAAAGATACTGAGCCGCTG -3'
(R):5'- CCTTGATGGAGGCCAGACCAAGTAG -3'

Sequencing Primer
(F):5'- GTCGGCCTCTACTGTAGAAATC -3'
(R):5'- CCAAGTAGAGAATGTGGTCTCC -3'

Posted On

2014-01-05