Mutagenetix > Incidental Mutation

Incidental Mutation 'R4247:Arhgap23'

374387

Institutional Source

Beutler Lab

Gene Symbol

Arhgap23

Ensembl Gene

ENSMUSG00000049807

Gene Name

Rho GTPase activating protein 23

Synonyms

MMRRC Submission

041063-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4247 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

97306359-97393228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97354525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 813 (E813K)

Ref Sequence

ENSEMBL: ENSMUSP00000112999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107601] [ENSMUST00000121799] [ENSMUST00000142465]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107601
AA Change: E602K

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103227
Gene: ENSMUSG00000049807
AA Change: E602K

Domain	Start	End	E-Value	Type
low complexity region	246	258	N/A	INTRINSIC
low complexity region	354	369	N/A	INTRINSIC
low complexity region	426	443	N/A	INTRINSIC
PH	479	600	3.2e-12	SMART
low complexity region	679	687	N/A	INTRINSIC
RhoGAP	707	884	6.83e-65	SMART
low complexity region	1051	1066	N/A	INTRINSIC
low complexity region	1101	1114	N/A	INTRINSIC
low complexity region	1125	1146	N/A	INTRINSIC
low complexity region	1176	1194	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121799
AA Change: E813K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: E813K

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
PDZ	52	160	4.2e-17	SMART
low complexity region	457	469	N/A	INTRINSIC
low complexity region	565	580	N/A	INTRINSIC
low complexity region	637	654	N/A	INTRINSIC
PH	690	811	3.2e-12	SMART
low complexity region	890	898	N/A	INTRINSIC
RhoGAP	918	1095	6.83e-65	SMART
low complexity region	1262	1277	N/A	INTRINSIC
low complexity region	1312	1325	N/A	INTRINSIC
low complexity region	1336	1357	N/A	INTRINSIC
low complexity region	1387	1405	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142465
AA Change: E302K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123191
Gene: ENSMUSG00000049807
AA Change: E302K

Domain	Start	End	E-Value	Type
low complexity region	54	69	N/A	INTRINSIC
low complexity region	126	143	N/A	INTRINSIC
PH	179	300	3.2e-12	SMART
low complexity region	379	387	N/A	INTRINSIC
RhoGAP	407	584	6.83e-65	SMART

Meta Mutation Damage Score

0.1740

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,195,626 (GRCm39)	I305V	probably benign	Het
Aga	T	A	8: 53,964,865 (GRCm39)	L9Q	possibly damaging	Het
Akna	C	T	4: 63,313,409 (GRCm39)	G238D	probably benign	Het
Atp13a2	T	C	4: 140,719,539 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,824,917 (GRCm39)	G820S	probably damaging	Het
Ccdc97	T	G	7: 25,415,459 (GRCm39)	H68P	possibly damaging	Het
Dclre1b	A	C	3: 103,711,400 (GRCm39)		probably null	Het
Erap1	T	C	13: 74,823,414 (GRCm39)	I816T	probably damaging	Het
Fubp1	G	A	3: 151,937,573 (GRCm39)	A103T	possibly damaging	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gtf3c5	T	C	2: 28,461,196 (GRCm39)	D306G	probably damaging	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Hsdl2	A	T	4: 59,594,417 (GRCm39)	N16I	probably damaging	Het
Kif14	G	T	1: 136,401,126 (GRCm39)	M492I	possibly damaging	Het
Kif27	A	G	13: 58,435,731 (GRCm39)	V1354A	probably damaging	Het
Kif9	G	T	9: 110,325,027 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Lrrc24	A	G	15: 76,602,176 (GRCm39)	I193T	possibly damaging	Het
Or2bd2	A	G	7: 6,441,901 (GRCm39)		probably benign	Het
Or52b1	T	C	7: 104,979,355 (GRCm39)	I15V	probably benign	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Pramel52-ps	A	G	5: 94,531,446 (GRCm39)	D110G	possibly damaging	Het
Ranbp2	A	G	10: 58,314,686 (GRCm39)	D1802G	possibly damaging	Het
Resf1	T	A	6: 149,227,041 (GRCm39)	M29K	possibly damaging	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Scn11a	C	T	9: 119,636,952 (GRCm39)	V250M	probably damaging	Het
Slitrk1	A	G	14: 109,149,994 (GRCm39)	V239A	possibly damaging	Het
Slitrk6	T	A	14: 110,988,171 (GRCm39)	D512V	probably damaging	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Tamalin	G	T	15: 101,122,418 (GRCm39)	R79L	possibly damaging	Het
Trp73	A	G	4: 154,149,089 (GRCm39)		probably null	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Upp1	T	C	11: 9,084,815 (GRCm39)	I178T	probably benign	Het
Vmn2r73	A	T	7: 85,521,883 (GRCm39)	L152Q	probably damaging	Het
Vmn2r97	T	C	17: 19,167,542 (GRCm39)	S599P	possibly damaging	Het
Wrnip1	T	C	13: 32,990,866 (GRCm39)	L375P	probably damaging	Het
Zfp945	C	T	17: 23,069,583 (GRCm39)	G793D	probably damaging	Het
Zfyve9	C	A	4: 108,576,389 (GRCm39)	A231S	probably benign	Het

Other mutations in Arhgap23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Arhgap23	APN	11	97,383,497 (GRCm39)	intron	probably benign
IGL00493:Arhgap23	APN	11	97,337,379 (GRCm39)	critical splice donor site	probably null
IGL01729:Arhgap23	APN	11	97,344,787 (GRCm39)	missense	probably damaging	1.00
IGL01805:Arhgap23	APN	11	97,383,428 (GRCm39)	intron	probably benign
IGL02005:Arhgap23	APN	11	97,382,045 (GRCm39)	missense	probably damaging	0.99
IGL02026:Arhgap23	APN	11	97,342,407 (GRCm39)	missense	probably damaging	0.99
IGL02135:Arhgap23	APN	11	97,342,528 (GRCm39)	missense	probably damaging	0.97
IGL02178:Arhgap23	APN	11	97,343,179 (GRCm39)	missense	probably benign	0.42
IGL02226:Arhgap23	APN	11	97,342,426 (GRCm39)	missense	probably benign	0.07
IGL02309:Arhgap23	APN	11	97,356,827 (GRCm39)	splice site	probably benign
IGL02399:Arhgap23	APN	11	97,381,831 (GRCm39)	intron	probably benign
IGL02630:Arhgap23	APN	11	97,345,123 (GRCm39)	missense	probably benign	0.24
IGL02724:Arhgap23	APN	11	97,382,005 (GRCm39)	missense	probably damaging	0.99
IGL02740:Arhgap23	APN	11	97,365,843 (GRCm39)	missense	probably damaging	1.00
IGL02746:Arhgap23	APN	11	97,345,030 (GRCm39)	splice site	probably benign
IGL02862:Arhgap23	APN	11	97,347,306 (GRCm39)	missense	probably damaging	1.00
IGL03380:Arhgap23	APN	11	97,343,344 (GRCm39)	missense	probably damaging	1.00
R0091:Arhgap23	UTSW	11	97,343,070 (GRCm39)	missense	probably benign	0.44
R0134:Arhgap23	UTSW	11	97,335,154 (GRCm39)	missense	probably benign	0.09
R0225:Arhgap23	UTSW	11	97,335,154 (GRCm39)	missense	probably benign	0.09
R0305:Arhgap23	UTSW	11	97,391,935 (GRCm39)	missense	probably damaging	0.99
R0358:Arhgap23	UTSW	11	97,354,414 (GRCm39)	missense	probably damaging	1.00
R0422:Arhgap23	UTSW	11	97,354,478 (GRCm39)	missense	probably damaging	1.00
R0497:Arhgap23	UTSW	11	97,342,989 (GRCm39)	missense	probably damaging	1.00
R0580:Arhgap23	UTSW	11	97,337,362 (GRCm39)	frame shift	probably null
R0782:Arhgap23	UTSW	11	97,391,380 (GRCm39)	missense	possibly damaging	0.73
R1216:Arhgap23	UTSW	11	97,383,498 (GRCm39)	intron	probably benign
R1488:Arhgap23	UTSW	11	97,391,685 (GRCm39)	missense	possibly damaging	0.53
R1785:Arhgap23	UTSW	11	97,342,387 (GRCm39)	missense	possibly damaging	0.77
R1844:Arhgap23	UTSW	11	97,354,234 (GRCm39)	missense	probably damaging	1.00
R1855:Arhgap23	UTSW	11	97,339,523 (GRCm39)	missense	probably damaging	0.99
R1977:Arhgap23	UTSW	11	97,342,273 (GRCm39)	missense	possibly damaging	0.95
R2064:Arhgap23	UTSW	11	97,383,888 (GRCm39)	missense	probably benign	0.02
R2130:Arhgap23	UTSW	11	97,342,387 (GRCm39)	missense	possibly damaging	0.77
R2431:Arhgap23	UTSW	11	97,343,230 (GRCm39)	missense	probably benign
R2853:Arhgap23	UTSW	11	97,383,420 (GRCm39)	splice site	probably null
R3767:Arhgap23	UTSW	11	97,366,932 (GRCm39)	missense	probably damaging	1.00
R3768:Arhgap23	UTSW	11	97,366,932 (GRCm39)	missense	probably damaging	1.00
R3769:Arhgap23	UTSW	11	97,366,932 (GRCm39)	missense	probably damaging	1.00
R3770:Arhgap23	UTSW	11	97,366,932 (GRCm39)	missense	probably damaging	1.00
R4209:Arhgap23	UTSW	11	97,345,322 (GRCm39)	missense	probably damaging	0.99
R4997:Arhgap23	UTSW	11	97,342,846 (GRCm39)	missense	probably damaging	0.98
R5399:Arhgap23	UTSW	11	97,391,743 (GRCm39)	missense	probably damaging	0.97
R5549:Arhgap23	UTSW	11	97,357,394 (GRCm39)	missense	probably damaging	0.96
R5655:Arhgap23	UTSW	11	97,343,372 (GRCm39)	critical splice donor site	probably null
R5857:Arhgap23	UTSW	11	97,342,405 (GRCm39)	missense	possibly damaging	0.93
R6013:Arhgap23	UTSW	11	97,391,818 (GRCm39)	missense	probably damaging	0.99
R6031:Arhgap23	UTSW	11	97,366,965 (GRCm39)	missense	probably damaging	1.00
R6031:Arhgap23	UTSW	11	97,366,965 (GRCm39)	missense	probably damaging	1.00
R6077:Arhgap23	UTSW	11	97,382,058 (GRCm39)	critical splice donor site	probably null
R6151:Arhgap23	UTSW	11	97,391,238 (GRCm39)	missense	probably benign	0.01
R6393:Arhgap23	UTSW	11	97,354,498 (GRCm39)	missense	probably damaging	0.98
R6693:Arhgap23	UTSW	11	97,357,343 (GRCm39)	missense	probably damaging	1.00
R6752:Arhgap23	UTSW	11	97,343,074 (GRCm39)	missense	probably damaging	0.98
R7202:Arhgap23	UTSW	11	97,342,819 (GRCm39)	missense	possibly damaging	0.65
R7209:Arhgap23	UTSW	11	97,383,273 (GRCm39)	splice site	probably null
R7209:Arhgap23	UTSW	11	97,366,911 (GRCm39)	missense	probably damaging	1.00
R7320:Arhgap23	UTSW	11	97,342,371 (GRCm39)	missense	probably benign	0.10
R7345:Arhgap23	UTSW	11	97,357,304 (GRCm39)	missense	possibly damaging	0.91
R7599:Arhgap23	UTSW	11	97,391,169 (GRCm39)	missense	probably benign
R8229:Arhgap23	UTSW	11	97,344,732 (GRCm39)	missense	probably benign	0.36
R8332:Arhgap23	UTSW	11	97,381,960 (GRCm39)	missense	unknown
R8412:Arhgap23	UTSW	11	97,356,854 (GRCm39)	missense	probably benign	0.02
R8460:Arhgap23	UTSW	11	97,343,197 (GRCm39)	missense	probably damaging	1.00
R8492:Arhgap23	UTSW	11	97,365,847 (GRCm39)	missense	probably damaging	1.00
R8525:Arhgap23	UTSW	11	97,380,910 (GRCm39)	missense	probably damaging	1.00
R8692:Arhgap23	UTSW	11	97,345,322 (GRCm39)	missense	probably damaging	0.99
R8708:Arhgap23	UTSW	11	97,343,238 (GRCm39)	missense	probably benign	0.06
R8749:Arhgap23	UTSW	11	97,391,641 (GRCm39)	missense	probably damaging	0.99
R8882:Arhgap23	UTSW	11	97,355,949 (GRCm39)	missense	probably benign	0.00
R9188:Arhgap23	UTSW	11	97,390,983 (GRCm39)	missense	possibly damaging	0.72
RF020:Arhgap23	UTSW	11	97,354,387 (GRCm39)	missense	probably damaging	1.00
V8831:Arhgap23	UTSW	11	97,347,371 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGTCTCCCTGCAGAAAGC -3'
(R):5'- ATGCATCTGTCCTCAAACCC -3'

Sequencing Primer
(F):5'- TCTCGTTGAGCAAGGAGC -3'
(R):5'- CCAAACTCACGTGGACAGTC -3'

Posted On

2016-03-04