Mutagenetix > Incidental Mutation

Incidental Mutation 'R7311:Arhgap24'

567577

Institutional Source

Beutler Lab

Gene Symbol

Arhgap24

Ensembl Gene

ENSMUSG00000057315

Gene Name

Rho GTPase activating protein 24

Synonyms

0610025G21Rik

MMRRC Submission

045367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7311 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102629257-103045803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103040551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 589 (D589G)

Ref Sequence

ENSEMBL: ENSMUSP00000092138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070000] [ENSMUST00000073302] [ENSMUST00000094559] [ENSMUST00000112852] [ENSMUST00000112853] [ENSMUST00000112854]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070000
AA Change: D499G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070048
Gene: ENSMUSG00000057315
AA Change: D499G

Domain	Start	End	E-Value	Type
RhoGAP	58	234	7.04e-67	SMART
low complexity region	476	487	N/A	INTRINSIC
low complexity region	520	539	N/A	INTRINSIC
coiled coil region	558	638	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073302
AA Change: D496G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073028
Gene: ENSMUSG00000057315
AA Change: D496G

Domain	Start	End	E-Value	Type
Blast:RhoGAP	1	38	5e-16	BLAST
RhoGAP	55	231	7.04e-67	SMART
low complexity region	473	484	N/A	INTRINSIC
low complexity region	517	536	N/A	INTRINSIC
coiled coil region	555	635	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094559
AA Change: D589G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092138
Gene: ENSMUSG00000057315
AA Change: D589G

Domain	Start	End	E-Value	Type
PH	18	125	5.35e-23	SMART
RhoGAP	148	324	7.04e-67	SMART
low complexity region	566	577	N/A	INTRINSIC
low complexity region	610	629	N/A	INTRINSIC
coiled coil region	648	728	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112852
AA Change: D496G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108473
Gene: ENSMUSG00000057315
AA Change: D496G

Domain	Start	End	E-Value	Type
Blast:RhoGAP	1	38	5e-16	BLAST
RhoGAP	55	231	7.04e-67	SMART
low complexity region	473	484	N/A	INTRINSIC
low complexity region	517	536	N/A	INTRINSIC
coiled coil region	555	635	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112853
AA Change: D496G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108474
Gene: ENSMUSG00000057315
AA Change: D496G

Domain	Start	End	E-Value	Type
Blast:RhoGAP	1	38	5e-16	BLAST
RhoGAP	55	231	7.04e-67	SMART
low complexity region	473	484	N/A	INTRINSIC
low complexity region	517	536	N/A	INTRINSIC
coiled coil region	555	635	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112854
AA Change: D496G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108475
Gene: ENSMUSG00000057315
AA Change: D496G

Domain	Start	End	E-Value	Type
Blast:RhoGAP	1	38	5e-16	BLAST
RhoGAP	55	231	7.04e-67	SMART
low complexity region	473	484	N/A	INTRINSIC
low complexity region	517	536	N/A	INTRINSIC
coiled coil region	555	635	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,635,184 (GRCm39)	V118A	probably benign	Het
Accsl	C	T	2: 93,696,160 (GRCm39)	G146D	possibly damaging	Het
Acsm1	A	T	7: 119,237,305 (GRCm39)	H206L	probably damaging	Het
Acta2	A	G	19: 34,219,186 (GRCm39)	Y339H	probably damaging	Het
Adcy2	T	C	13: 68,779,073 (GRCm39)	D989G	probably damaging	Het
Ahnak	G	A	19: 8,979,507 (GRCm39)	A264T	probably benign	Het
Ahnak	A	G	19: 8,987,191 (GRCm39)	D2825G	possibly damaging	Het
Akt1	G	T	12: 112,623,587 (GRCm39)	T291K	probably damaging	Het
B4galnt3	G	A	6: 120,192,396 (GRCm39)	Q447*	probably null	Het
BC024063	C	T	10: 81,945,993 (GRCm39)	R538C	possibly damaging	Het
Bod1l	A	G	5: 41,951,676 (GRCm39)	S2912P	possibly damaging	Het
Bysl	A	G	17: 47,912,710 (GRCm39)	V360A	possibly damaging	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Ccdc57	G	A	11: 120,764,567 (GRCm39)	P736L	probably benign	Het
Cep290	T	A	10: 100,373,580 (GRCm39)	F1287I	probably damaging	Het
Cntn1	T	C	15: 92,130,156 (GRCm39)		probably null	Het
Col6a3	C	T	1: 90,750,013 (GRCm39)	G274R	probably damaging	Het
Cplane1	G	T	15: 8,210,399 (GRCm39)	V291F	probably damaging	Het
Cyb5r4	T	C	9: 86,937,835 (GRCm39)	C285R	probably damaging	Het
Cyp4f39	G	A	17: 32,708,629 (GRCm39)	C392Y	probably damaging	Het
Dcun1d3	A	T	7: 119,458,734 (GRCm39)	D100E	probably damaging	Het
Dhx58	A	T	11: 100,588,997 (GRCm39)	D516E	probably benign	Het
Dock5	T	A	14: 68,065,951 (GRCm39)	I351F	probably benign	Het
Elmod2	A	C	8: 84,046,041 (GRCm39)		probably null	Het
Endov	G	A	11: 119,398,077 (GRCm39)	A281T	probably benign	Het
Epyc	A	G	10: 97,485,562 (GRCm39)	M1V	probably null	Het
Espnl	T	A	1: 91,251,290 (GRCm39)	H128Q	probably damaging	Het
Fam20a	A	T	11: 109,565,454 (GRCm39)	C452*	probably null	Het
Fam241b	A	G	10: 61,944,733 (GRCm39)	V88A	probably damaging	Het
Fbxl9	A	G	8: 106,042,299 (GRCm39)		probably benign	Het
Fgd3	A	T	13: 49,450,166 (GRCm39)	S28T	possibly damaging	Het
Fmn1	C	A	2: 113,356,025 (GRCm39)	P920Q	unknown	Het
Gpr139	G	C	7: 118,744,089 (GRCm39)	D165E	probably benign	Het
Hoxb1	A	G	11: 96,257,927 (GRCm39)	T286A	possibly damaging	Het
Ifi204	T	A	1: 173,587,134 (GRCm39)	E174D	probably benign	Het
Igf2bp2	A	G	16: 21,880,632 (GRCm39)	I555T	possibly damaging	Het
Ighv1-85	A	G	12: 115,963,799 (GRCm39)	I67T	probably damaging	Het
Ihh	G	C	1: 74,990,306 (GRCm39)	P23R	unknown	Het
Irx2	T	C	13: 72,779,396 (GRCm39)	S227P	probably damaging	Het
Itga4	A	G	2: 79,086,526 (GRCm39)	I68V	probably benign	Het
Jsrp1	T	A	10: 80,647,906 (GRCm39)	T51S	probably benign	Het
Khdc4	T	C	3: 88,619,002 (GRCm39)	S569P	probably damaging	Het
Kifc2	G	T	15: 76,547,010 (GRCm39)	G306V	probably damaging	Het
L3mbtl2	T	A	15: 81,551,588 (GRCm39)	S85T	possibly damaging	Het
Lama1	T	C	17: 68,074,380 (GRCm39)	S944P		Het
Lama4	T	A	10: 38,902,631 (GRCm39)	C202S	probably damaging	Het
Morc3	G	A	16: 93,646,061 (GRCm39)	D218N	probably damaging	Het
Mrtfb	T	A	16: 13,223,718 (GRCm39)	Y866*	probably null	Het
Myorg	A	G	4: 41,498,577 (GRCm39)	I351T	probably damaging	Het
N4bp2l1	G	A	5: 150,496,389 (GRCm39)	T179I	probably damaging	Het
Narf	A	G	11: 121,139,976 (GRCm39)	E270G	probably benign	Het
Nsd2	A	G	5: 34,049,380 (GRCm39)	D1205G	probably damaging	Het
Or10x1	T	C	1: 174,196,759 (GRCm39)	V92A	probably benign	Het
Or5an11	T	C	19: 12,246,068 (GRCm39)	V158A	probably benign	Het
Parl	T	C	16: 20,106,625 (GRCm39)	T195A	probably benign	Het
Phrf1	A	G	7: 140,820,846 (GRCm39)	I158V	unknown	Het
Phtf1	T	C	3: 103,904,980 (GRCm39)	F543L	possibly damaging	Het
Plod2	T	A	9: 92,466,611 (GRCm39)	D190E	probably damaging	Het
Polr1a	G	T	6: 71,927,863 (GRCm39)	K871N	possibly damaging	Het
Ppp2r5a	A	T	1: 191,089,998 (GRCm39)	I252K	probably damaging	Het
Ptgir	T	A	7: 16,640,973 (GRCm39)	D88E	probably damaging	Het
Raly	T	C	2: 154,699,340 (GRCm39)	V48A	probably damaging	Het
Ripor1	T	A	8: 106,344,447 (GRCm39)	L527*	probably null	Het
Rnf213	T	C	11: 119,307,373 (GRCm39)	S678P		Het
Rpf1	T	A	3: 146,212,918 (GRCm39)	Q306L	probably benign	Het
Rpl14	T	C	9: 120,403,171 (GRCm39)	I122T	probably damaging	Het
Scn9a	C	A	2: 66,314,748 (GRCm39)	A1657S	possibly damaging	Het
Serpinb10	A	G	1: 107,474,477 (GRCm39)	Y213C	probably damaging	Het
Slc25a23	A	G	17: 57,359,827 (GRCm39)	L308P	probably damaging	Het
Smg9	T	A	7: 24,120,058 (GRCm39)	M387K	probably benign	Het
Socs3	G	A	11: 117,858,614 (GRCm39)	P148L	probably benign	Het
Susd3	A	G	13: 49,401,906 (GRCm39)	L14P	probably benign	Het
Syt14	T	A	1: 192,662,858 (GRCm39)	M80L	probably benign	Het
Tmprss2	T	A	16: 97,369,616 (GRCm39)	Y386F	possibly damaging	Het
Tmx3	T	A	18: 90,558,195 (GRCm39)	S416T	probably benign	Het
Treh	A	G	9: 44,597,245 (GRCm39)	T555A	probably benign	Het
Ttc5	T	G	14: 51,003,400 (GRCm39)	Q428P	probably damaging	Het
Vmn2r73	A	G	7: 85,521,192 (GRCm39)	S259P	possibly damaging	Het
Vps4b	A	T	1: 106,719,434 (GRCm39)	V38E	probably damaging	Het
Wdr83	C	A	8: 85,802,890 (GRCm39)	R177L	probably benign	Het
Zfp780b	A	G	7: 27,662,588 (GRCm39)	F656L	possibly damaging	Het
Zfp995	A	T	17: 22,099,641 (GRCm39)	F198I	probably benign	Het
Zswim8	A	T	14: 20,771,552 (GRCm39)	Y1495F	probably damaging	Het

Other mutations in Arhgap24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Arhgap24	APN	5	103,008,265 (GRCm39)	missense	possibly damaging	0.94
IGL01483:Arhgap24	APN	5	103,008,243 (GRCm39)	missense	possibly damaging	0.91
IGL02641:Arhgap24	APN	5	103,040,386 (GRCm39)	missense	probably damaging	1.00
IGL03166:Arhgap24	APN	5	103,023,552 (GRCm39)	splice site	probably benign
bullmarket	UTSW	5	103,023,643 (GRCm39)	missense	probably damaging	0.99
buyers	UTSW	5	103,045,086 (GRCm39)	missense	probably damaging	1.00
wallstreet	UTSW	5	102,700,163 (GRCm39)	splice site	probably null
BB009:Arhgap24	UTSW	5	102,993,835 (GRCm39)	intron	probably benign
BB019:Arhgap24	UTSW	5	102,993,835 (GRCm39)	intron	probably benign
R0506:Arhgap24	UTSW	5	103,023,643 (GRCm39)	missense	probably damaging	0.99
R0606:Arhgap24	UTSW	5	103,045,086 (GRCm39)	missense	probably damaging	1.00
R1457:Arhgap24	UTSW	5	102,811,972 (GRCm39)	missense	probably damaging	0.98
R1491:Arhgap24	UTSW	5	103,008,198 (GRCm39)	missense	possibly damaging	0.47
R1707:Arhgap24	UTSW	5	103,039,953 (GRCm39)	missense	probably benign	0.40
R2112:Arhgap24	UTSW	5	103,040,366 (GRCm39)	missense	probably damaging	1.00
R2300:Arhgap24	UTSW	5	103,008,291 (GRCm39)	missense	probably damaging	1.00
R2516:Arhgap24	UTSW	5	103,039,776 (GRCm39)	missense	probably benign
R3803:Arhgap24	UTSW	5	103,040,308 (GRCm39)	missense	probably damaging	0.98
R4257:Arhgap24	UTSW	5	102,811,983 (GRCm39)	missense	probably benign	0.00
R4761:Arhgap24	UTSW	5	102,812,080 (GRCm39)	intron	probably benign
R5045:Arhgap24	UTSW	5	103,039,743 (GRCm39)	missense	possibly damaging	0.79
R5121:Arhgap24	UTSW	5	102,989,201 (GRCm39)	missense	probably damaging	1.00
R5209:Arhgap24	UTSW	5	103,040,015 (GRCm39)	missense	probably benign	0.12
R5667:Arhgap24	UTSW	5	102,994,037 (GRCm39)	critical splice donor site	probably null
R5914:Arhgap24	UTSW	5	102,700,025 (GRCm39)	splice site	probably null
R6039:Arhgap24	UTSW	5	103,028,652 (GRCm39)	missense	probably damaging	0.98
R6039:Arhgap24	UTSW	5	103,028,652 (GRCm39)	missense	probably damaging	0.98
R6158:Arhgap24	UTSW	5	103,040,778 (GRCm39)	missense	probably benign	0.12
R6410:Arhgap24	UTSW	5	103,040,017 (GRCm39)	missense	probably benign	0.10
R6450:Arhgap24	UTSW	5	103,044,990 (GRCm39)	missense	probably benign	0.01
R6520:Arhgap24	UTSW	5	103,028,659 (GRCm39)	missense	probably benign	0.00
R6666:Arhgap24	UTSW	5	102,700,163 (GRCm39)	splice site	probably null
R7233:Arhgap24	UTSW	5	103,026,367 (GRCm39)	missense	probably benign	0.03
R7460:Arhgap24	UTSW	5	103,040,212 (GRCm39)	missense	probably benign	0.36
R7483:Arhgap24	UTSW	5	102,989,174 (GRCm39)	missense	probably benign	0.13
R7515:Arhgap24	UTSW	5	102,993,882 (GRCm39)	intron	probably benign
R7667:Arhgap24	UTSW	5	103,026,323 (GRCm39)	missense	probably benign
R7932:Arhgap24	UTSW	5	102,993,835 (GRCm39)	intron	probably benign
R8227:Arhgap24	UTSW	5	103,023,647 (GRCm39)	missense	probably benign	0.02
R8289:Arhgap24	UTSW	5	103,028,692 (GRCm39)	missense	possibly damaging	0.88
R8431:Arhgap24	UTSW	5	103,040,464 (GRCm39)	missense	possibly damaging	0.49
R8721:Arhgap24	UTSW	5	103,023,565 (GRCm39)	missense	possibly damaging	0.46
R8767:Arhgap24	UTSW	5	103,039,740 (GRCm39)	missense	probably benign
R8954:Arhgap24	UTSW	5	103,040,136 (GRCm39)	missense	probably benign	0.00
R9120:Arhgap24	UTSW	5	103,040,016 (GRCm39)	missense	probably benign	0.05
R9306:Arhgap24	UTSW	5	102,994,008 (GRCm39)	missense	possibly damaging	0.91
R9687:Arhgap24	UTSW	5	102,994,022 (GRCm39)	missense	probably benign
Z1176:Arhgap24	UTSW	5	103,028,673 (GRCm39)	missense	probably benign	0.00
Z1176:Arhgap24	UTSW	5	103,023,625 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGGCTATGTGACCCTGAGAG -3'
(R):5'- TCAGGCTGGAAACTAAACTGTG -3'

Sequencing Primer
(F):5'- TGGCTATGTGACCCTGAGAGATAAC -3'
(R):5'- CTGGAAACTAAACTGTGAAGTGC -3'

Posted On

2019-06-26