Mutagenetix > Incidental Mutation

Incidental Mutation 'R0570:Arhgap20'

46385

Institutional Source

Beutler Lab

Gene Symbol

Arhgap20

Ensembl Gene

ENSMUSG00000053199

Gene Name

Rho GTPase activating protein 20

Synonyms

6530403F17Rik, A530023E23Rik

MMRRC Submission

038761-MU

Accession Numbers

Essential gene?

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

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51676651-51765158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51751751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 365 (S365P)

Ref Sequence

ENSEMBL: ENSMUSP00000120124 (fasta)

Gene Model

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

AlphaFold

Q6IFT4

Predicted Effect

probably benign
Transcript: ENSMUST00000065496
AA Change: S401P

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: S401P

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

possibly damaging
Transcript: ENSMUST00000130405
AA Change: S365P

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: S365P

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

0.2584

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,729,733 (GRCm39)		probably benign	Het
Aadacl3	C	T	4: 144,190,130 (GRCm39)	W57*	probably null	Het
Abca2	G	T	2: 25,337,417 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,593,373 (GRCm39)	I257V	probably benign	Het
Adamts2	A	G	11: 50,666,963 (GRCm39)	D420G	probably damaging	Het
Adamts5	A	G	16: 85,696,135 (GRCm39)	F341L	probably damaging	Het
Ahnak	T	A	19: 8,991,062 (GRCm39)	D4115E	probably damaging	Het
Atrn	G	A	2: 130,822,054 (GRCm39)	V916I	probably benign	Het
Blmh	T	C	11: 76,856,651 (GRCm39)	V82A	probably damaging	Het
C1ra	A	T	6: 124,490,664 (GRCm39)	Y19F	probably benign	Het
Cactin	A	G	10: 81,159,067 (GRCm39)	E306G	probably damaging	Het
Celsr1	C	T	15: 85,787,566 (GRCm39)	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,631,110 (GRCm39)	E250G	probably benign	Het
Col17a1	A	T	19: 47,654,317 (GRCm39)	S647T	possibly damaging	Het
Cope	T	A	8: 70,759,181 (GRCm39)	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,403,435 (GRCm39)	I198T	probably damaging	Het
Elfn2	T	C	15: 78,557,434 (GRCm39)	N371S	probably damaging	Het
Elmo2	G	T	2: 165,146,839 (GRCm39)	A246D	probably benign	Het
Ewsr1	A	T	11: 5,035,935 (GRCm39)	M187K	possibly damaging	Het
Faap100	A	T	11: 120,265,114 (GRCm39)	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,186,247 (GRCm39)	S85L	probably benign	Het
Fanca	A	T	8: 124,033,169 (GRCm39)	S292R	probably benign	Het
Fanci	G	A	7: 79,093,711 (GRCm39)	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,245,640 (GRCm39)	I1230T	probably benign	Het
Fmo5	T	C	3: 97,536,456 (GRCm39)	L27S	probably damaging	Het
Fmo9	A	G	1: 166,502,031 (GRCm39)	V147A	probably null	Het
Fnbp4	A	G	2: 90,583,301 (GRCm39)	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,666,844 (GRCm39)	T229A	probably benign	Het
Gapvd1	A	G	2: 34,618,552 (GRCm39)	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,165,541 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,730,480 (GRCm39)	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,630,460 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,237,785 (GRCm39)		probably null	Het
H2-Q1	A	G	17: 35,540,373 (GRCm39)	T153A	possibly damaging	Het
Ina	A	C	19: 47,011,938 (GRCm39)	E452A	probably benign	Het
Kars1	A	G	8: 112,721,494 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,595,291 (GRCm39)	E124G	probably damaging	Het
Lpin3	T	C	2: 160,745,944 (GRCm39)		probably benign	Het
Lrp1	A	T	10: 127,390,878 (GRCm39)	C3006*	probably null	Het
Lyst	T	C	13: 13,883,971 (GRCm39)	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Melk	T	C	4: 44,308,906 (GRCm39)	Y88H	probably damaging	Het
Myrf	A	G	19: 10,189,161 (GRCm39)	S857P	probably damaging	Het
Nos2	A	G	11: 78,826,187 (GRCm39)	I153M	possibly damaging	Het
Or4n4	T	G	14: 50,519,370 (GRCm39)	L113F	probably benign	Het
Otof	A	G	5: 30,529,225 (GRCm39)		probably benign	Het
Patl2	A	G	2: 121,955,789 (GRCm39)	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,389,580 (GRCm39)	Y19C	probably benign	Het
Pcnt	A	T	10: 76,247,941 (GRCm39)	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,520,710 (GRCm39)	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,210,775 (GRCm39)	M761L	probably benign	Het
Pi16	A	T	17: 29,538,189 (GRCm39)	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,603,471 (GRCm39)		probably benign	Het
Plcb2	A	G	2: 118,547,806 (GRCm39)	W474R	probably benign	Het
Psapl1	A	G	5: 36,361,624 (GRCm39)	D72G	possibly damaging	Het
Ptpn5	T	A	7: 46,728,681 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,215,896 (GRCm38)	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,435,165 (GRCm39)	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,566,476 (GRCm39)	C168*	probably null	Het
Rhag	A	G	17: 41,139,804 (GRCm39)		probably benign	Het
Rhebl1	C	T	15: 98,779,034 (GRCm39)	V17I	probably benign	Het
Rnf130	A	T	11: 49,986,703 (GRCm39)	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,642,952 (GRCm39)	L60P	probably damaging	Het
Rspry1	T	C	8: 95,356,420 (GRCm39)	I25T	probably damaging	Het
Ruvbl2	C	T	7: 45,071,621 (GRCm39)	V421M	probably damaging	Het
Sap30	T	C	8: 57,936,000 (GRCm39)	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,581,042 (GRCm39)		probably benign	Het
Slc1a2	G	A	2: 102,586,352 (GRCm39)	V319M	probably damaging	Het
Smad2	T	C	18: 76,422,250 (GRCm39)		probably benign	Het
Spdya	T	C	17: 71,869,585 (GRCm39)		probably null	Het
Stk39	G	A	2: 68,240,392 (GRCm39)	T113M	probably damaging	Het
Tanc1	A	G	2: 59,626,382 (GRCm39)		probably benign	Het
Tas2r122	T	C	6: 132,688,774 (GRCm39)	K40E	probably damaging	Het
Tph2	G	T	10: 115,010,039 (GRCm39)		probably benign	Het
Trip12	G	A	1: 84,729,269 (GRCm39)	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,845,701 (GRCm39)	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,760,681 (GRCm39)	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,315,546 (GRCm39)	M142I	possibly damaging	Het
Uso1	T	C	5: 92,347,682 (GRCm39)	S766P	probably benign	Het
Usp21	G	A	1: 171,111,319 (GRCm39)		probably benign	Het
Usp48	T	A	4: 137,360,437 (GRCm39)	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,804,583 (GRCm39)	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,760,937 (GRCm39)	A807T	probably damaging	Het
Zfp329	A	T	7: 12,544,379 (GRCm39)	C382S	probably damaging	Het
Zfp341	A	G	2: 154,487,988 (GRCm39)	E817G	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
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

Predicted Primers

PCR Primer
(F):5'- TGAATCCTTCTAGCCATCCGTCCAG -3'
(R):5'- GGTAAAACGCCCTCTGTGTGTTCTG -3'

Sequencing Primer
(F):5'- AGCTCCAGTCCTTCGGTG -3'
(R):5'- CCAAGGCTGCTCTGTGAAATG -3'

Posted On

2013-06-11