Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Arhgap24'

47573

Institutional Source

Beutler Lab

Gene Symbol

Arhgap24

Ensembl Gene

ENSMUSG00000057315

Gene Name

Rho GTPase activating protein 24

Synonyms

0610025G21Rik

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102629257-103045803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103023643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 136 (Y136H)

Ref Sequence

ENSEMBL: ENSMUSP00000070048 (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: Y136H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070048
Gene: ENSMUSG00000057315
AA Change: Y136H

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: Y133H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073028
Gene: ENSMUSG00000057315
AA Change: Y133H

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: Y226H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092138
Gene: ENSMUSG00000057315
AA Change: Y226H

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: Y133H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108473
Gene: ENSMUSG00000057315
AA Change: Y133H

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: Y133H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108474
Gene: ENSMUSG00000057315
AA Change: Y133H

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: Y133H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108475
Gene: ENSMUSG00000057315
AA Change: Y133H

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

noncoding transcript
Transcript: ENSMUST00000130222

Meta Mutation Damage Score

0.5105

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,137,319 (GRCm39)	C378*	probably null	Het
Ago3	T	C	4: 126,311,045 (GRCm39)	D56G	possibly damaging	Het
Ahnak	G	T	19: 8,986,492 (GRCm39)	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,480,300 (GRCm39)	G470D	probably damaging	Het
Ankub1	T	A	3: 57,597,796 (GRCm39)	N58I	probably damaging	Het
Apol7b	G	T	15: 77,309,728 (GRCm39)	T23K	probably benign	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Atp1a1	A	G	3: 101,497,128 (GRCm39)	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,368,873 (GRCm39)	C109S	probably damaging	Het
Catsperd	A	G	17: 56,965,078 (GRCm39)	K475R	possibly damaging	Het
Cblb	A	G	16: 52,024,843 (GRCm39)	T913A	probably benign	Het
Cbx6	A	G	15: 79,712,404 (GRCm39)	L341P	probably benign	Het
Cd177	T	C	7: 24,457,781 (GRCm39)	Y159C	probably damaging	Het
Cdh20	A	G	1: 110,027,844 (GRCm39)	N530D	probably damaging	Het
Cdk8	T	C	5: 146,235,682 (GRCm39)	F270L	probably damaging	Het
Ces2c	A	T	8: 105,574,656 (GRCm39)	T38S	probably damaging	Het
Chst14	T	C	2: 118,758,202 (GRCm39)	L357P	probably damaging	Het
Clca3b	T	A	3: 144,528,627 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,555,720 (GRCm39)	S839G	probably benign	Het
Cnga4	T	A	7: 105,056,947 (GRCm39)	V350E	probably damaging	Het
Creb1	G	A	1: 64,609,426 (GRCm39)	G180R	probably damaging	Het
Csmd3	T	C	15: 48,320,907 (GRCm39)	E301G	probably benign	Het
Cyp4f18	A	T	8: 72,749,844 (GRCm39)	D268E	probably benign	Het
Dock5	A	G	14: 68,022,241 (GRCm39)		probably benign	Het
Dpy19l4	T	A	4: 11,289,715 (GRCm39)	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153 (GRCm39)	H224L	probably benign	Het
Dzip1l	C	A	9: 99,545,134 (GRCm39)	Q585K	possibly damaging	Het
Erf	C	T	7: 24,943,801 (GRCm39)	G510D	probably damaging	Het
Fanci	T	C	7: 79,081,926 (GRCm39)	L623P	probably benign	Het
Fat1	T	C	8: 45,475,988 (GRCm39)	V1655A	probably damaging	Het
Fat4	T	C	3: 38,942,463 (GRCm39)	V452A	probably benign	Het
Gal3st4	C	T	5: 138,264,151 (GRCm39)	G283S	probably benign	Het
Gm5422	A	G	10: 31,126,318 (GRCm39)		noncoding transcript	Het
Gnal	C	T	18: 67,221,744 (GRCm39)	T49I	unknown	Het
Gng5	A	G	3: 146,209,103 (GRCm39)	N57S	probably damaging	Het
Herc1	A	G	9: 66,355,441 (GRCm39)	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,201,584 (GRCm39)	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,618,092 (GRCm39)	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,563,878 (GRCm39)	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,607,133 (GRCm39)	E98K	probably damaging	Het
Lepr	G	T	4: 101,630,207 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,812,600 (GRCm39)	H1004R	probably benign	Het
Map3k1	T	A	13: 111,892,298 (GRCm39)	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013 (GRCm39)	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,694,330 (GRCm39)	S107P	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Myo7b	A	G	18: 32,097,439 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,399,215 (GRCm39)		probably benign	Het
Nalcn	C	T	14: 123,834,026 (GRCm39)	V50I	possibly damaging	Het
Negr1	A	G	3: 156,866,385 (GRCm39)		probably benign	Het
Nlrc5	T	G	8: 95,219,753 (GRCm39)		probably benign	Het
Nyap2	G	A	1: 81,065,029 (GRCm39)	D14N	probably damaging	Het
Or10w1	T	A	19: 13,632,261 (GRCm39)	I151N	possibly damaging	Het
Or2h1	C	A	17: 37,404,203 (GRCm39)	G188W	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp14	A	T	16: 35,661,779 (GRCm39)	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,160,615 (GRCm39)	F2347S	probably damaging	Het
Pigf	A	G	17: 87,316,337 (GRCm39)	V147A	probably benign	Het
Pkhd1	A	T	1: 20,629,693 (GRCm39)	M637K	probably benign	Het
Plce1	T	C	19: 38,748,582 (GRCm39)	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,096,660 (GRCm39)		probably benign	Het
Prag1	T	C	8: 36,570,854 (GRCm39)	V479A	possibly damaging	Het
Prss33	A	T	17: 24,054,079 (GRCm39)	D42E	probably benign	Het
Psmb10	A	G	8: 106,664,177 (GRCm39)	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,630,407 (GRCm39)	T306A	probably benign	Het
Psmg1	C	T	16: 95,790,687 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,266,671 (GRCm39)		probably null	Het
Reln	C	T	5: 22,125,494 (GRCm39)	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,634,622 (GRCm39)	H101Q	probably benign	Het
Selenoi	A	G	5: 30,471,954 (GRCm39)	N385S	probably benign	Het
Slc24a4	T	C	12: 102,097,882 (GRCm39)		probably null	Het
Slc4a10	G	A	2: 62,080,877 (GRCm39)	S338N	probably benign	Het
Slfn3	A	T	11: 83,103,986 (GRCm39)	T286S	probably damaging	Het
Snx29	A	G	16: 11,213,167 (GRCm39)	D111G	probably benign	Het
Sp8	T	C	12: 118,812,300 (GRCm39)	S52P	possibly damaging	Het
Srek1	G	T	13: 103,897,098 (GRCm39)	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tatdn2	C	A	6: 113,679,550 (GRCm39)	D298E	probably benign	Het
Tmem253	A	T	14: 52,254,663 (GRCm39)		probably benign	Het
Tmem63a	T	A	1: 180,785,614 (GRCm39)		probably null	Het
Tmprss11b	T	C	5: 86,809,499 (GRCm39)	D331G	probably damaging	Het
Tor1aip1	T	A	1: 155,883,420 (GRCm39)	K143*	probably null	Het
Trappc8	A	T	18: 20,977,245 (GRCm39)	N841K	possibly damaging	Het
Trio	T	C	15: 27,855,049 (GRCm39)	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306 (GRCm39)	T114N	probably damaging	Het
Trpv2	C	A	11: 62,473,732 (GRCm39)	A129D	probably benign	Het
Ttll4	T	G	1: 74,727,777 (GRCm39)	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,484,508 (GRCm39)	L172P	possibly damaging	Het
Usp19	T	A	9: 108,371,686 (GRCm39)	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,990,114 (GRCm39)	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,578,021 (GRCm39)	D443E	probably benign	Het
Wee2	A	T	6: 40,440,187 (GRCm39)	E445V	probably benign	Het
Zer1	A	T	2: 29,991,819 (GRCm39)	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,467,795 (GRCm39)	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,199,881 (GRCm39)	Q157*	probably null	Het
Zfp964	T	A	8: 70,116,587 (GRCm39)	C396S	unknown	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
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
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'- GCCAGCTTTGTCGCAATTCTCTTAG -3'
(R):5'- TGAGACAACAGTGCCATCAGCC -3'

Sequencing Primer
(F):5'- TGTCGCAATTCTCTTAGGTAGAC -3'
(R):5'- GATCCGATGCGATGTCAAC -3'

Posted On

2013-06-12