Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Arhgap20'

205606

Institutional Source

Beutler Lab

Gene Symbol

Arhgap20

Ensembl Gene

ENSMUSG00000053199

Gene Name

Rho GTPase activating protein 20

Synonyms

6530403F17Rik, A530023E23Rik

MMRRC Submission

045015-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51676651-51765158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51760626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 790 (R790W)

Ref Sequence

ENSEMBL: ENSMUSP00000120124 (fasta)

Gene Model

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

AlphaFold

Q6IFT4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065496
AA Change: R826W

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: R826W

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: R790W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: R790W

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

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,369 (GRCm39)	T403A	probably damaging	Het
Acat3	T	A	17: 13,147,493 (GRCm39)	R175*	probably null	Het
Adam1b	C	A	5: 121,639,104 (GRCm39)	C647F	probably damaging	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,837,380 (GRCm39)		probably null	Het
Adcy5	A	T	16: 35,069,310 (GRCm39)	N426I	probably damaging	Het
Adgre1	T	C	17: 57,748,299 (GRCm39)	S500P	probably benign	Het
Aloxe3	A	G	11: 69,020,911 (GRCm39)	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,562,942 (GRCm39)	S180P	probably damaging	Het
Atp8b4	C	A	2: 126,203,702 (GRCm39)	A757S	possibly damaging	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,831,477 (GRCm39)		probably benign	Het
Ccnk	A	G	12: 108,161,333 (GRCm39)	T195A	probably damaging	Het
Cd55b	C	A	1: 130,341,842 (GRCm39)	C265F	probably damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Cenpt	T	C	8: 106,575,646 (GRCm39)	S190G	possibly damaging	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Cxxc4	C	A	3: 133,946,414 (GRCm39)	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,338,661 (GRCm39)	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,318,111 (GRCm39)	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,440,837 (GRCm39)	I47V	probably benign	Het
Ddx5	A	T	11: 106,675,723 (GRCm39)	D322E	probably benign	Het
Dhx40	A	G	11: 86,680,123 (GRCm39)	C405R	possibly damaging	Het
Emc1	T	C	4: 139,087,796 (GRCm39)	F100S	probably damaging	Het
Exoc2	T	C	13: 31,090,480 (GRCm39)		probably benign	Het
Gm10110	A	T	14: 90,135,272 (GRCm39)		noncoding transcript	Het
Gm17332	T	C	11: 31,132,386 (GRCm39)	H26R	possibly damaging	Het
Gna12	T	C	5: 140,748,367 (GRCm39)	N183S	probably benign	Het
Gpx6	A	G	13: 21,496,497 (GRCm39)	N24D	probably benign	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,527,044 (GRCm39)	Y134C	probably benign	Het
Ifi213	T	C	1: 173,417,166 (GRCm39)	I415M	probably damaging	Het
Ints9	C	A	14: 65,253,979 (GRCm39)	P278T	probably damaging	Het
Krt79	C	T	15: 101,846,373 (GRCm39)	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,567,337 (GRCm39)	N132S	probably benign	Het
Ltn1	T	A	16: 87,213,152 (GRCm39)	K470*	probably null	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Mcm9	A	G	10: 53,417,649 (GRCm39)	M18T	probably damaging	Het
Med12l	A	G	3: 58,975,740 (GRCm39)	T212A	probably benign	Het
Mfhas1	T	C	8: 36,058,012 (GRCm39)	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,121,407 (GRCm39)	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Nme4	A	T	17: 26,311,071 (GRCm39)	W165R	probably damaging	Het
Nup205	T	A	6: 35,196,649 (GRCm39)	D1128E	probably benign	Het
Or2t48	A	T	11: 58,420,199 (GRCm39)	Y204*	probably null	Het
Or5ae2	T	C	7: 84,505,756 (GRCm39)	Y60H	probably damaging	Het
Pcdh1	T	C	18: 38,332,538 (GRCm39)	D155G	possibly damaging	Het
Pex12	A	T	11: 83,188,648 (GRCm39)	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,125,731 (GRCm39)		probably benign	Het
Plekhh3	A	G	11: 101,054,426 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,104,342 (GRCm39)	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,765,719 (GRCm39)	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rgs14	T	C	13: 55,530,651 (GRCm39)		probably benign	Het
Rhbdf2	A	T	11: 116,491,017 (GRCm39)	V645E	possibly damaging	Het
Robo3	A	G	9: 37,333,623 (GRCm39)	V696A	probably benign	Het
Sall1	A	G	8: 89,755,344 (GRCm39)	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,270,932 (GRCm39)	E109G	probably benign	Het
Serpind1	G	T	16: 17,160,856 (GRCm39)	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,696,600 (GRCm39)		probably benign	Het
Sstr4	C	A	2: 148,237,453 (GRCm39)	N21K	probably benign	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Thap4	T	C	1: 93,678,009 (GRCm39)	E259G	probably benign	Het
Thra	A	G	11: 98,646,969 (GRCm39)	N30S	probably benign	Het
Tmem207	A	T	16: 26,343,571 (GRCm39)	V27E	possibly damaging	Het
Top3a	A	G	11: 60,644,714 (GRCm39)	V305A	probably damaging	Het
Trim59	A	T	3: 68,944,971 (GRCm39)	I123K	probably damaging	Het
Ttn	T	C	2: 76,691,839 (GRCm39)		probably benign	Het
Ubac1	T	A	2: 25,897,750 (GRCm39)	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308 (GRCm39)		probably benign	Het
Uri1	A	T	7: 37,666,814 (GRCm39)	D206E	probably benign	Het
Utp4	A	G	8: 107,640,086 (GRCm39)	H465R	probably benign	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,782,217 (GRCm39)		probably null	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Vps72	G	A	3: 95,026,529 (GRCm39)	R158Q	possibly damaging	Het
Wdr59	T	C	8: 112,211,972 (GRCm39)	D366G	probably benign	Het
Zfp366	C	A	13: 99,365,000 (GRCm39)	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly damaging	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
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
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'- ACAGAGTTCAGTGACAGGC -3'
(R):5'- TGGCCCTCGATTTGCAAAG -3'

Sequencing Primer
(F):5'- TGACGTCAGCAAGAGAAACAC -3'
(R):5'- GGCCCTCGATTTGCAAAGACTTATG -3'

Posted On

2014-06-23