Mutagenetix > Incidental Mutation

Incidental Mutation 'R2240:Arhgap29'

240300

Institutional Source

Beutler Lab

Gene Symbol

Arhgap29

Ensembl Gene

ENSMUSG00000039831

Gene Name

Rho GTPase activating protein 29

Synonyms

C76601, Parg1, B130017I01Rik, 6720461J18Rik

MMRRC Submission

040240-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121746752-121810326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121805102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 897 (V897D)

Ref Sequence

ENSEMBL: ENSMUSP00000044624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037958] [ENSMUST00000197155]

AlphaFold

Q8CGF1

Predicted Effect

probably benign
Transcript: ENSMUST00000037958
AA Change: V897D

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: V897D

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
PDB:3QWE\|A	193	469	5e-41	PDB
Blast:RhoGAP	412	595	9e-84	BLAST
C1	613	659	2.48e-6	SMART
RhoGAP	684	885	1.92e-68	SMART
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197155

SMART Domains

Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
PDB:3QWE\|A	193	469	8e-42	PDB
Blast:RhoGAP	412	595	2e-87	BLAST
C1	613	659	2.48e-6	SMART
RhoGAP	684	780	1.14e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000198914
AA Change: V489D

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,417 (GRCm39)	I318N	probably damaging	Het
Abl1	A	G	2: 31,690,517 (GRCm39)	K679E	probably benign	Het
Actr8	A	G	14: 29,711,714 (GRCm39)	H420R	possibly damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bicc1	A	G	10: 70,782,633 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,432,613 (GRCm39)		probably benign	Het
Camk2g	T	C	14: 20,815,514 (GRCm39)	E184G	probably damaging	Het
Camta1	T	C	4: 151,169,032 (GRCm39)	S240G	possibly damaging	Het
Cbx7	C	A	15: 79,802,558 (GRCm39)	A240S	probably damaging	Het
Ccdc181	A	T	1: 164,107,596 (GRCm39)	D93V	probably damaging	Het
Ces2g	A	C	8: 105,689,134 (GRCm39)	S37R	probably benign	Het
Clca3a1	T	A	3: 144,714,746 (GRCm39)	R624W	probably damaging	Het
Clca3b	T	C	3: 144,531,696 (GRCm39)	K703E	probably benign	Het
Clec2h	T	C	6: 128,652,845 (GRCm39)	V204A	probably benign	Het
Cltb	T	C	13: 54,746,967 (GRCm39)	N3S	possibly damaging	Het
Col9a1	A	G	1: 24,218,582 (GRCm39)	I65V	unknown	Het
D430041D05Rik	C	T	2: 103,987,161 (GRCm39)	R1895Q	probably damaging	Het
Dnah1	T	C	14: 31,021,931 (GRCm39)	S1191G	probably benign	Het
Ehf	G	A	2: 103,104,420 (GRCm39)	P163S	probably benign	Het
Fam170b	A	C	14: 32,557,825 (GRCm39)	H220P	probably damaging	Het
Fastkd1	G	A	2: 69,527,297 (GRCm39)	T598I	probably benign	Het
Fignl2	C	T	15: 100,951,916 (GRCm39)	G122D	probably damaging	Het
Foxp4	C	A	17: 48,182,201 (GRCm39)	V530L	unknown	Het
Gcnt1	G	T	19: 17,306,695 (GRCm39)	D343E	possibly damaging	Het
Gja8	T	G	3: 96,827,618 (GRCm39)	N15H	probably benign	Het
Gm128	T	C	3: 95,148,243 (GRCm39)	E17G	probably benign	Het
Gnl1	T	C	17: 36,293,571 (GRCm39)	V252A	probably benign	Het
Gpld1	G	A	13: 25,166,490 (GRCm39)		probably null	Het
Gpr179	A	G	11: 97,242,559 (GRCm39)	L95P	probably damaging	Het
Gtf2a1	A	T	12: 91,553,513 (GRCm39)	D31E	possibly damaging	Het
Il12a	T	A	3: 68,601,517 (GRCm39)	Y58*	probably null	Het
Il1r2	T	C	1: 40,144,630 (GRCm39)	W106R	probably damaging	Het
Kif26b	A	G	1: 178,543,488 (GRCm39)	S374G	probably benign	Het
Mafb	A	T	2: 160,207,947 (GRCm39)	V217E	probably damaging	Het
Mapk13	T	A	17: 28,997,085 (GRCm39)	D292E	probably damaging	Het
Matn2	A	G	15: 34,433,209 (GRCm39)	D871G	probably damaging	Het
Mdn1	C	A	4: 32,765,701 (GRCm39)	T5220K	possibly damaging	Het
Mfsd6	T	C	1: 52,699,978 (GRCm39)	I723M	probably damaging	Het
Mia2	G	A	12: 59,154,668 (GRCm39)	S127N	probably benign	Het
Mpeg1	A	C	19: 12,440,402 (GRCm39)	E620A	probably damaging	Het
Mrgprb3	A	T	7: 48,293,389 (GRCm39)	F54Y	probably damaging	Het
Mtx2	A	G	2: 74,699,696 (GRCm39)	I156V	probably benign	Het
Neurog1	T	C	13: 56,399,348 (GRCm39)	E133G	probably damaging	Het
Nid2	G	A	14: 19,855,982 (GRCm39)	D1236N	probably damaging	Het
Nif3l1	A	G	1: 58,491,288 (GRCm39)	T213A	probably benign	Het
Or7e173	A	G	9: 19,938,440 (GRCm39)	S265P	probably damaging	Het
Otog	A	G	7: 45,890,453 (GRCm39)	M1V	probably null	Het
Pde4dip	C	T	3: 97,631,480 (GRCm39)	R1143K	probably benign	Het
Pgam2	T	C	11: 5,753,265 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,090,250 (GRCm39)	D30G	probably damaging	Het
Pramel5	C	A	4: 143,999,506 (GRCm39)	E194*	probably null	Het
Prss22	T	A	17: 24,215,755 (GRCm39)	S56C	probably damaging	Het
Rab23	A	G	1: 33,778,406 (GRCm39)	N216S	probably benign	Het
Rasgrf1	A	T	9: 89,858,815 (GRCm39)	E491V	probably damaging	Het
Rbbp8	C	T	18: 11,810,726 (GRCm39)	T76I	probably damaging	Het
Rtn2	G	A	7: 19,020,754 (GRCm39)		probably null	Het
Sdr39u1	A	T	14: 56,137,124 (GRCm39)	N62K	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc26a3	T	C	12: 31,507,071 (GRCm39)	V342A	probably damaging	Het
Slc49a3	A	G	5: 108,592,573 (GRCm39)	S234P	probably benign	Het
Snx30	G	T	4: 59,886,515 (GRCm39)	C308F	probably damaging	Het
Timd2	A	T	11: 46,569,043 (GRCm39)	V205E	probably benign	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfaip6	G	A	2: 51,940,926 (GRCm39)	D156N	probably benign	Het
Uggt2	T	A	14: 119,232,461 (GRCm39)	E1463D	probably damaging	Het
Urb2	C	A	8: 124,756,878 (GRCm39)	P862T	probably benign	Het
Vmn1r64	A	T	7: 5,887,369 (GRCm39)	L58*	probably null	Het
Vmn2r3	C	A	3: 64,166,483 (GRCm39)	G883C	probably benign	Het
Vps13d	A	T	4: 144,837,465 (GRCm39)	C2707S	possibly damaging	Het
Wdr11	G	T	7: 129,207,418 (GRCm39)		probably null	Het
Wdr37	T	A	13: 8,911,268 (GRCm39)		probably benign	Het
Wtap	G	A	17: 13,194,352 (GRCm39)	Q95*	probably null	Het
Zfp26	A	T	9: 20,348,563 (GRCm39)	L667H	probably damaging	Het
Zfp268	C	T	4: 145,311,891 (GRCm39)		probably benign	Het

Other mutations in Arhgap29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Arhgap29	APN	3	121,796,961 (GRCm39)	nonsense	probably null
IGL01121:Arhgap29	APN	3	121,803,512 (GRCm39)	missense	probably damaging	1.00
IGL01622:Arhgap29	APN	3	121,767,773 (GRCm39)	splice site	probably benign
IGL01623:Arhgap29	APN	3	121,767,773 (GRCm39)	splice site	probably benign
IGL01995:Arhgap29	APN	3	121,807,977 (GRCm39)	missense	probably benign	0.00
IGL02120:Arhgap29	APN	3	121,797,906 (GRCm39)	missense	probably benign	0.05
IGL02554:Arhgap29	APN	3	121,786,173 (GRCm39)	unclassified	probably benign
IGL02931:Arhgap29	APN	3	121,786,509 (GRCm39)	missense	probably benign
IGL02937:Arhgap29	APN	3	121,767,698 (GRCm39)	missense	probably damaging	0.99
PIT4362001:Arhgap29	UTSW	3	121,796,861 (GRCm39)	missense	probably benign	0.42
R0022:Arhgap29	UTSW	3	121,782,586 (GRCm39)	missense	possibly damaging	0.61
R0574:Arhgap29	UTSW	3	121,801,274 (GRCm39)	missense	probably benign	0.01
R0601:Arhgap29	UTSW	3	121,784,759 (GRCm39)	missense	probably damaging	1.00
R0639:Arhgap29	UTSW	3	121,801,290 (GRCm39)	missense	probably damaging	1.00
R0881:Arhgap29	UTSW	3	121,808,328 (GRCm39)	missense	probably damaging	1.00
R1232:Arhgap29	UTSW	3	121,796,989 (GRCm39)	missense	probably damaging	1.00
R1295:Arhgap29	UTSW	3	121,786,044 (GRCm39)	missense	probably benign	0.27
R1296:Arhgap29	UTSW	3	121,786,044 (GRCm39)	missense	probably benign	0.27
R1403:Arhgap29	UTSW	3	121,767,578 (GRCm39)	missense	probably damaging	1.00
R1403:Arhgap29	UTSW	3	121,767,578 (GRCm39)	missense	probably damaging	1.00
R1470:Arhgap29	UTSW	3	121,785,968 (GRCm39)	unclassified	probably benign
R1710:Arhgap29	UTSW	3	121,801,729 (GRCm39)	missense	probably damaging	1.00
R1878:Arhgap29	UTSW	3	121,805,020 (GRCm39)	missense	probably damaging	1.00
R2051:Arhgap29	UTSW	3	121,775,509 (GRCm39)	missense	probably benign	0.01
R2112:Arhgap29	UTSW	3	121,805,210 (GRCm39)	missense	probably benign	0.03
R2188:Arhgap29	UTSW	3	121,784,658 (GRCm39)	missense	probably damaging	1.00
R2420:Arhgap29	UTSW	3	121,767,629 (GRCm39)	missense	probably benign
R3618:Arhgap29	UTSW	3	121,782,176 (GRCm39)	missense	possibly damaging	0.62
R4673:Arhgap29	UTSW	3	121,808,620 (GRCm39)	missense	probably damaging	1.00
R4717:Arhgap29	UTSW	3	121,803,607 (GRCm39)	missense	possibly damaging	0.82
R5028:Arhgap29	UTSW	3	121,803,709 (GRCm39)	critical splice donor site	probably null
R5043:Arhgap29	UTSW	3	121,767,653 (GRCm39)	missense	probably benign	0.00
R5045:Arhgap29	UTSW	3	121,796,244 (GRCm39)	missense	probably benign	0.28
R5463:Arhgap29	UTSW	3	121,782,200 (GRCm39)	missense	possibly damaging	0.94
R5495:Arhgap29	UTSW	3	121,808,578 (GRCm39)	missense	probably damaging	1.00
R5743:Arhgap29	UTSW	3	121,775,560 (GRCm39)	missense	probably damaging	1.00
R5791:Arhgap29	UTSW	3	121,807,894 (GRCm39)	missense	probably damaging	0.98
R5896:Arhgap29	UTSW	3	121,805,736 (GRCm39)	missense	possibly damaging	0.78
R6083:Arhgap29	UTSW	3	121,786,397 (GRCm39)	missense	probably benign	0.00
R6355:Arhgap29	UTSW	3	121,804,907 (GRCm39)	missense	possibly damaging	0.46
R6451:Arhgap29	UTSW	3	121,787,230 (GRCm39)	missense	probably damaging	1.00
R6528:Arhgap29	UTSW	3	121,808,351 (GRCm39)	missense	probably benign	0.13
R7239:Arhgap29	UTSW	3	121,782,599 (GRCm39)	missense	probably benign	0.16
R7669:Arhgap29	UTSW	3	121,786,461 (GRCm39)	missense	probably damaging	1.00
R7807:Arhgap29	UTSW	3	121,807,981 (GRCm39)	missense	probably benign	0.01
R8045:Arhgap29	UTSW	3	121,801,211 (GRCm39)	synonymous	silent
R8048:Arhgap29	UTSW	3	121,786,550 (GRCm39)	missense	probably damaging	1.00
R8165:Arhgap29	UTSW	3	121,782,222 (GRCm39)	missense	probably damaging	0.98
R9001:Arhgap29	UTSW	3	121,775,523 (GRCm39)	missense	probably benign	0.03
R9032:Arhgap29	UTSW	3	121,808,249 (GRCm39)	missense	probably benign
R9060:Arhgap29	UTSW	3	121,783,973 (GRCm39)	missense	probably damaging	0.99
R9085:Arhgap29	UTSW	3	121,808,249 (GRCm39)	missense	probably benign
R9717:Arhgap29	UTSW	3	121,797,920 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGAGTGGTGGATCATGCAG -3'
(R):5'- CTTGTCATTTGTGTGCATGCAC -3'

Sequencing Primer
(F):5'- AACAAGATGAATTCTAAGAACTTGGG -3'
(R):5'- TGCATGCACGCACATACACATATAC -3'

Posted On

2014-10-15