Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Arhgap20'

570291

Institutional Source

Beutler Lab

Gene Symbol

Arhgap20

Ensembl Gene

ENSMUSG00000053199

Gene Name

Rho GTPase activating protein 20

Synonyms

6530403F17Rik, A530023E23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51765337-51853856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51849035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 729 (S729P)

Ref Sequence

ENSEMBL: ENSMUSP00000065633 (fasta)

Gene Model

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

AlphaFold

Q6IFT4

Predicted Effect

probably benign
Transcript: ENSMUST00000065496
AA Change: S729P

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: S729P

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

probably benign
Transcript: ENSMUST00000130405
AA Change: S693P

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: S693P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	A	9: 103,282,646	E22V	possibly damaging	Het
4930564D02Rik	G	T	3: 105,078,412	R47S	unknown	Het
4931408C20Rik	A	T	1: 26,684,467	L544Q	probably benign	Het
Abtb2	T	G	2: 103,567,412	I229S	probably damaging	Het
Adgre1	T	C	17: 57,420,441	L457P	probably damaging	Het
Amer3	C	A	1: 34,587,902	D407E	probably damaging	Het
Asap2	T	G	12: 21,229,457	I418S	probably benign	Het
Atp5j2	T	C	5: 145,188,485		probably null	Het
Brinp3	T	A	1: 146,902,086	V757E	probably benign	Het
Brip1	C	T	11: 86,139,103	G572R	probably benign	Het
C3	C	A	17: 57,223,215	R462L	probably benign	Het
Cat	T	A	2: 103,463,298	H395L	probably benign	Het
Cela3a	T	C	4: 137,402,606	N235D	possibly damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,185,268	G993W	probably damaging	Het
Col9a1	A	G	1: 24,179,403		probably null	Het
Coro2b	G	T	9: 62,489,372	H29N	probably benign	Het
Dll3	C	T	7: 28,299,111	R143H	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530	*114R	probably null	Het
Ecm2	T	C	13: 49,515,078	S86P	probably damaging	Het
Eif5	T	C	12: 111,540,290		probably benign	Het
Ets1	T	A	9: 32,733,032		probably null	Het
Exph5	A	G	9: 53,375,896	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,687,666	F110L	probably benign	Het
Flt1	T	A	5: 147,580,381	E1032V	probably damaging	Het
Galnt5	A	T	2: 58,017,193	H556L	probably benign	Het
Glb1l3	A	T	9: 26,829,003	Y344N	probably benign	Het
Glrx3	C	A	7: 137,459,286	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,591,375	C246S	probably damaging	Het
Gm8251	G	T	1: 44,059,496	P814Q	probably damaging	Het
Gm906	T	C	13: 50,245,744	I849V	probably benign	Het
Gstm4	A	G	3: 108,042,373	L137P	probably benign	Het
Hsd17b13	T	C	5: 103,968,750	T169A	probably damaging	Het
Hydin	A	C	8: 110,600,362	T4778P	probably benign	Het
Ifna15	A	G	4: 88,557,983	L88P	probably damaging	Het
Kcnab1	G	A	3: 65,376,531	R390H	probably benign	Het
Kng1	C	A	16: 23,067,787	H161N	possibly damaging	Het
Lamp5	T	C	2: 136,060,958	V199A	probably benign	Het
Lrig3	G	A	10: 126,009,966	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,144,044	R412H	probably damaging	Het
March6	C	A	15: 31,486,359	C350F	probably benign	Het
Mastl	A	G	2: 23,133,389	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,991,728	M231L	probably benign	Het
Micalcl	T	C	7: 112,382,151	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo15	A	G	11: 60,477,961	M516V	probably benign	Het
Myo1b	A	T	1: 51,751,254	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,569,321	L381*	probably null	Het
Nln	T	C	13: 104,050,847	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,745,504	P271S	probably benign	Het
Obox6	A	C	7: 15,834,646	L102V	possibly damaging	Het
Olfr1008	T	C	2: 85,689,837	M136T	probably damaging	Het
Olfr1208	T	C	2: 88,897,271	I109V	possibly damaging	Het
Olfr1241	T	C	2: 89,482,455	S227G	probably benign	Het
Olfr853	A	G	9: 19,537,099	M277T	probably damaging	Het
Pde10a	A	G	17: 8,967,462	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,183,098	S760L	possibly damaging	Het
Pid1	T	A	1: 84,159,129	I94L	unknown	Het
Plekhn1	T	C	4: 156,222,671	H474R	probably benign	Het
Prcc	A	T	3: 87,869,681	S329T	possibly damaging	Het
Pros1	G	T	16: 62,919,523	R445L	probably damaging	Het
Pxdn	C	A	12: 30,012,261	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,682,458		probably null	Het
Slc6a1	T	C	6: 114,311,818	V446A	probably damaging	Het
Slc6a4	C	G	11: 77,017,085	Y358*	probably null	Het
Sned1	A	C	1: 93,281,736	E857A	probably damaging	Het
Spdye4b	C	T	5: 143,202,390	R213C	possibly damaging	Het
Spry2	T	G	14: 105,893,512	E80A	probably damaging	Het
Stard9	G	A	2: 120,666,534	C142Y	probably benign	Het
Sync	A	T	4: 129,294,306	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,485,692	C718R		Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmbim1	T	C	1: 74,291,279	E185G	probably benign	Het
Tyk2	T	C	9: 21,108,034	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,748,501	V87I	not run	Het
Vmn2r49	A	G	7: 9,986,814	V250A	probably benign	Het
Yipf3	A	C	17: 46,250,827	T187P	probably damaging	Het
Zfp148	G	T	16: 33,434,790	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably damaging	Het

Other mutations in Arhgap20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Arhgap20	APN	9	51849413	missense	probably benign	0.00
IGL01542:Arhgap20	APN	9	51838887	missense	probably benign
IGL01815:Arhgap20	APN	9	51846168	missense	probably damaging	1.00
IGL01975:Arhgap20	APN	9	51849797	nonsense	probably null
IGL02041:Arhgap20	APN	9	51846190	missense	possibly damaging	0.92
IGL02557:Arhgap20	APN	9	51821273	missense	probably damaging	1.00
IGL02602:Arhgap20	APN	9	51825843	missense	probably damaging	1.00
IGL02741:Arhgap20	APN	9	51848645	missense	probably benign	0.17
IGL02792:Arhgap20	APN	9	51849918	missense	possibly damaging	0.89
IGL03166:Arhgap20	APN	9	51849777	missense	possibly damaging	0.63
P0047:Arhgap20	UTSW	9	51849236	missense	probably damaging	1.00
R0115:Arhgap20	UTSW	9	51838972	missense	probably damaging	1.00
R0121:Arhgap20	UTSW	9	51838951	missense	possibly damaging	0.91
R0539:Arhgap20	UTSW	9	51850155	missense	probably benign	0.01
R0541:Arhgap20	UTSW	9	51849663	missense	probably damaging	1.00
R0551:Arhgap20	UTSW	9	51825825	splice site	probably benign
R0570:Arhgap20	UTSW	9	51840451	missense	possibly damaging	0.56
R0630:Arhgap20	UTSW	9	51849384	missense	probably damaging	0.98
R0931:Arhgap20	UTSW	9	51816741	missense	probably benign	0.30
R0992:Arhgap20	UTSW	9	51816786	missense	probably damaging	0.96
R1052:Arhgap20	UTSW	9	51846270	missense	probably damaging	0.98
R1779:Arhgap20	UTSW	9	51849915	missense	probably benign
R1839:Arhgap20	UTSW	9	51849326	missense	probably damaging	0.99
R1942:Arhgap20	UTSW	9	51831698	missense	probably benign	0.43
R2292:Arhgap20	UTSW	9	51849443	missense	possibly damaging	0.63
R3896:Arhgap20	UTSW	9	51816837	missense	probably damaging	0.96
R4109:Arhgap20	UTSW	9	51816685	missense	possibly damaging	0.60
R4166:Arhgap20	UTSW	9	51826835	critical splice acceptor site	probably null
R4631:Arhgap20	UTSW	9	51840353	intron	probably benign
R4692:Arhgap20	UTSW	9	51785788	missense	probably damaging	1.00
R5273:Arhgap20	UTSW	9	51848616	missense	probably damaging	1.00
R5505:Arhgap20	UTSW	9	51838948	missense	probably damaging	0.98
R5743:Arhgap20	UTSW	9	51816727	missense	probably benign	0.17
R5847:Arhgap20	UTSW	9	51824976	intron	probably benign
R6006:Arhgap20	UTSW	9	51850126	missense	probably benign
R6112:Arhgap20	UTSW	9	51829384	missense	probably damaging	1.00
R6355:Arhgap20	UTSW	9	51843720	missense	probably damaging	1.00
R6576:Arhgap20	UTSW	9	51849278	missense	probably benign	0.03
R6801:Arhgap20	UTSW	9	51848592	missense	probably damaging	1.00
R7130:Arhgap20	UTSW	9	51849747	missense	probably damaging	0.98
R7318:Arhgap20	UTSW	9	51840502	missense	probably benign
R7500:Arhgap20	UTSW	9	51840502	missense	probably benign
R7598:Arhgap20	UTSW	9	51849790	missense	possibly damaging	0.95
R7677:Arhgap20	UTSW	9	51840398	missense	probably damaging	0.97
R7725:Arhgap20	UTSW	9	51831750	missense	possibly damaging	0.80
R8086:Arhgap20	UTSW	9	51849263	missense	probably benign	0.00
R8122:Arhgap20	UTSW	9	51849993	missense	probably damaging	0.99
R8125:Arhgap20	UTSW	9	51826909	missense	probably damaging	0.99
R8196:Arhgap20	UTSW	9	51848977	missense	possibly damaging	0.94
R8783:Arhgap20	UTSW	9	51816667	splice site	probably benign
R8972:Arhgap20	UTSW	9	51849011	missense	probably benign	0.03
R9027:Arhgap20	UTSW	9	51843677	missense	probably damaging	1.00
R9427:Arhgap20	UTSW	9	51843691	missense	probably damaging	1.00
R9564:Arhgap20	UTSW	9	51850113	frame shift	probably null
R9741:Arhgap20	UTSW	9	51849430	nonsense	probably null
Z1177:Arhgap20	UTSW	9	51824924	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGGTTTCACTAGGGGAGCAC -3'
(R):5'- AGATGGGTACTGGCTTGGAC -3'

Sequencing Primer
(F):5'- TAGGGGAGCACGCTAGG -3'
(R):5'- CTTGAGTTCCTTCATGACCAGACAAG -3'

Posted On

2019-09-13