Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Arhgap24'

54138

Institutional Source

Beutler Lab

Gene Symbol

Arhgap24

Ensembl Gene

ENSMUSG00000057315

Gene Name

Rho GTPase activating protein 24

Synonyms

0610025G21Rik

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0606 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

102629257-103045803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103045086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 620 (R620W)

Ref Sequence

ENSEMBL: ENSMUSP00000108475 (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: R623W

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

SMART Domains

Protein: ENSMUSP00000070048
Gene: ENSMUSG00000057315
AA Change: R623W

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: R620W

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

SMART Domains

Protein: ENSMUSP00000073028
Gene: ENSMUSG00000057315
AA Change: R620W

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: R713W

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

SMART Domains

Protein: ENSMUSP00000092138
Gene: ENSMUSG00000057315
AA Change: R713W

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: R620W

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

SMART Domains

Protein: ENSMUSP00000108473
Gene: ENSMUSG00000057315
AA Change: R620W

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: R620W

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

SMART Domains

Protein: ENSMUSP00000108474
Gene: ENSMUSG00000057315
AA Change: R620W

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: R620W

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

SMART Domains

Protein: ENSMUSP00000108475
Gene: ENSMUSG00000057315
AA Change: R620W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	probably benign	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
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
R7311:Arhgap24	UTSW	5	103,040,551 (GRCm39)	missense	probably damaging	1.00
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'- ACTCATTCGCTCTGAAGTGACAACC -3'
(R):5'- GAGATTCCTGCACCAGATGAAGCTC -3'

Sequencing Primer
(F):5'- CCCAGAGATGTCCTAGTGACTTG -3'
(R):5'- TGCACCAGATGAAGCTCTACAC -3'

Posted On

2013-07-11