Mutagenetix > Incidental Mutations

Incidental Mutation 'R1758:Rab3gap2'

195043

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap2

Ensembl Gene

ENSMUSG00000039318

Gene Name

RAB3 GTPase activating protein subunit 2

Synonyms

1110059F07Rik

MMRRC Submission

039790-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

185204117-185286759 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 185283884 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1331 (A1331E)

Ref Sequence

ENSEMBL: ENSMUSP00000141608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027921] [ENSMUST00000069652] [ENSMUST00000194740]

Predicted Effect

probably benign
Transcript: ENSMUST00000027921

SMART Domains

Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:tRNA-synt_1	87	712	3.6e-172	PFAM
Pfam:tRNA-synt_1g	112	268	7e-15	PFAM
Pfam:tRNA-synt_1_2	334	462	3.8e-7	PFAM
Pfam:Anticodon_1	756	920	1.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069652
AA Change: A1351E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: A1351E

Domain	Start	End	E-Value	Type
low complexity region	52	62	N/A	INTRINSIC
Pfam:RAB3GAP2_N	73	497	1.3e-167	PFAM
low complexity region	667	686	N/A	INTRINSIC
Pfam:RAB3GAP2_C	767	1366	3.2e-245	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193482

Predicted Effect

probably benign
Transcript: ENSMUST00000194740
AA Change: A1331E

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: A1331E

Domain	Start	End	E-Value	Type
low complexity region	52	62	N/A	INTRINSIC
Pfam:RAB3GAP2_N	73	497	1.3e-157	PFAM
low complexity region	667	686	N/A	INTRINSIC
Pfam:RAB3GAP2_C	766	1346	2.5e-233	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195534

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,562,237	R38G	possibly damaging	Het
4930590J08Rik	T	C	6: 91,915,222	V155A	possibly damaging	Het
Adgb	A	G	10: 10,426,605	S406P	probably damaging	Het
Adgrb2	C	A	4: 130,011,875	T893N	probably damaging	Het
Adgrf5	T	C	17: 43,424,593		probably null	Het
Alms1	T	A	6: 85,628,505	I2379N	probably damaging	Het
Arap3	C	T	18: 37,989,912	V512I	probably benign	Het
Atf4	C	T	15: 80,257,213	T268I	probably benign	Het
BC067074	A	G	13: 113,368,732	T2132A	possibly damaging	Het
Ccdc154	T	C	17: 25,163,182	L25P	probably damaging	Het
Ccdc9	G	A	7: 16,276,236	S381F	probably damaging	Het
Cdk17	C	T	10: 93,208,250	T17M	probably damaging	Het
Cep128	T	C	12: 91,347,578	N142S	probably benign	Het
Cep78	A	G	19: 15,959,536	I602T	probably damaging	Het
Clasp1	C	T	1: 118,548,025	T935I	probably damaging	Het
Cnr1	T	C	4: 33,945,000	S463P	probably damaging	Het
Cntnap1	T	A	11: 101,184,623	W876R	probably damaging	Het
Cntnap5c	A	G	17: 58,042,550	D286G	probably damaging	Het
Copa	C	T	1: 172,104,144	R321C	probably damaging	Het
Ctla2a	T	G	13: 60,935,442	E98A	probably damaging	Het
Cux1	A	T	5: 136,392,322	D183E	probably damaging	Het
Cxcl15	A	C	5: 90,801,464	T163P	unknown	Het
Ddias	T	C	7: 92,859,363	N448S	probably benign	Het
Dhx8	T	C	11: 101,766,738	F1152S	probably damaging	Het
Dnah12	C	A	14: 26,766,114	Q992K	probably benign	Het
Eno3	G	T	11: 70,661,425	W301L	possibly damaging	Het
Faap100	A	T	11: 120,377,233	V238E	probably damaging	Het
Fgf4	A	G	7: 144,862,312	S137G	probably benign	Het
Fhod3	A	C	18: 25,120,310	D1439A	possibly damaging	Het
Frem2	A	G	3: 53,653,357	L1243P	probably damaging	Het
Gif	G	A	19: 11,757,815	M266I	probably damaging	Het
Gkn3	T	G	6: 87,388,835	M1L	probably benign	Het
Gm10250	T	C	15: 5,121,027		probably benign	Het
Gm12185	T	C	11: 48,908,032	T545A	possibly damaging	Het
Gm14226	T	A	2: 155,025,458	L445H	probably damaging	Het
Gm3404	A	T	5: 146,526,226	M73L	probably benign	Het
Gm4907	A	G	X: 23,906,751	I164V	probably benign	Het
Gm973	G	T	1: 59,634,010	R976S	unknown	Het
Gpr146	A	T	5: 139,393,382	H313L	probably benign	Het
Gys2	T	A	6: 142,472,706	E32D	probably damaging	Het
Igsf10	G	A	3: 59,329,196	T1188I	probably benign	Het
Igsf9b	A	T	9: 27,334,252	T1172S	possibly damaging	Het
Itga8	T	A	2: 12,265,333	N114I	possibly damaging	Het
Itsn2	T	A	12: 4,658,160	V795E	possibly damaging	Het
Kdm1b	T	A	13: 47,060,768	S197T	probably benign	Het
Kif5c	G	A	2: 49,723,133	R161Q	probably benign	Het
Krt33b	T	C	11: 100,025,535	Y232C	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrp1	A	T	10: 127,588,584	N744K	possibly damaging	Het
Mcm10	C	A	2: 5,004,050	L369F	probably damaging	Het
Muc5ac	T	A	7: 141,801,531	I1018N	possibly damaging	Het
Myom2	T	C	8: 15,065,795	L70P	probably benign	Het
Myt1l	T	A	12: 29,827,242	N297K	unknown	Het
Ncr1	C	T	7: 4,340,808	T98I	probably benign	Het
Nek3	T	C	8: 22,160,262	E78G	probably damaging	Het
Nfatc3	T	A	8: 106,099,136	N606K	probably damaging	Het
Nup107	T	G	10: 117,761,343	D669A	probably damaging	Het
Olfr1113	A	T	2: 87,213,414	Q174L	probably benign	Het
Olfr1264	T	C	2: 90,021,329	T246A	probably benign	Het
Olfr922	A	T	9: 38,815,575	H24L	probably benign	Het
Olfr95	A	T	17: 37,211,313	I180N	possibly damaging	Het
Pcnx	T	C	12: 81,983,484	V1711A	probably benign	Het
Pik3c3	A	G	18: 30,277,010	D99G	probably damaging	Het
Pinx1	C	A	14: 63,919,575	T317K	probably benign	Het
Ppargc1b	G	T	18: 61,298,786		probably null	Het
Pradc1	T	A	6: 85,447,221	I119F	possibly damaging	Het
Psat1	G	T	19: 15,914,879	T242K	probably damaging	Het
Psma6	G	A	12: 55,407,532	C28Y	probably damaging	Het
Pyurf	A	T	6: 57,691,832	C58*	probably null	Het
Rnase4	T	C	14: 51,105,265	*149Q	probably null	Het
Ruvbl2	T	C	7: 45,425,162	K184R	probably benign	Het
Scn7a	T	G	2: 66,680,183	M1292L	probably benign	Het
Scn7a	A	T	2: 66,700,887	Y549N	probably damaging	Het
Selp	A	G	1: 164,132,285	D370G	possibly damaging	Het
Slc22a15	G	A	3: 101,860,453	Q386*	probably null	Het
Slc22a29	A	G	19: 8,217,762		probably null	Het
Slc26a7	A	C	4: 14,548,491	I266S	possibly damaging	Het
Smpd4	T	C	16: 17,626,008	S112P	probably damaging	Het
Smpd4	T	A	16: 17,640,880	L165Q	probably damaging	Het
Snx33	A	G	9: 56,926,698	I29T	probably benign	Het
Spen	G	A	4: 141,476,375	P1647L	unknown	Het
Strip2	T	C	6: 29,941,941		probably null	Het
Swsap1	C	T	9: 21,955,984	R75*	probably null	Het
Tmem210	C	T	2: 25,288,423	T32I	probably damaging	Het
Tnn	C	T	1: 160,147,584	R91H	possibly damaging	Het
Tnni1	G	A	1: 135,808,682	R94H	probably damaging	Het
Tnrc6c	T	A	11: 117,760,730	V1693D	probably benign	Het
Trip4	G	A	9: 65,874,977	Q158*	probably null	Het
Ttc39b	T	C	4: 83,237,349	E474G	probably damaging	Het
Usp50	C	A	2: 126,775,862	C221F	probably damaging	Het
Vmn1r171	T	C	7: 23,632,356	I2T	probably benign	Het
Wdr62	T	A	7: 30,267,903	I309F	probably damaging	Het
Xdh	A	T	17: 73,910,209	V688E	probably damaging	Het
Zfyve26	A	G	12: 79,238,944	L2353P	probably damaging	Het
Zgpat	C	A	2: 181,378,840	R269S	probably damaging	Het

Other mutations in Rab3gap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Rab3gap2	APN	1	185238870	missense	probably damaging	1.00
IGL01620:Rab3gap2	APN	1	185204326	missense	probably benign
IGL01977:Rab3gap2	APN	1	185267023	nonsense	probably null
IGL02183:Rab3gap2	APN	1	185271468	nonsense	probably null
IGL02229:Rab3gap2	APN	1	185259383	missense	possibly damaging	0.71
IGL02231:Rab3gap2	APN	1	185266898	splice site	probably benign
IGL02506:Rab3gap2	APN	1	185252024	splice site	probably benign
IGL02618:Rab3gap2	APN	1	185251741	missense	possibly damaging	0.79
IGL02643:Rab3gap2	APN	1	185267000	missense	possibly damaging	0.69
IGL03239:Rab3gap2	APN	1	185249894	missense	probably damaging	1.00
PIT4498001:Rab3gap2	UTSW	1	185281685	missense	probably damaging	1.00
R0173:Rab3gap2	UTSW	1	185249907	missense	possibly damaging	0.51
R0372:Rab3gap2	UTSW	1	185262694	missense	possibly damaging	0.93
R0492:Rab3gap2	UTSW	1	185252392	splice site	probably benign
R0510:Rab3gap2	UTSW	1	185260508	splice site	probably benign
R0708:Rab3gap2	UTSW	1	185249926	missense	probably damaging	0.99
R0711:Rab3gap2	UTSW	1	185249926	missense	probably damaging	0.99
R1135:Rab3gap2	UTSW	1	185275943	missense	possibly damaging	0.95
R1428:Rab3gap2	UTSW	1	185247904	missense	probably damaging	1.00
R1599:Rab3gap2	UTSW	1	185251026	missense	probably benign	0.07
R1903:Rab3gap2	UTSW	1	185221902	missense	probably benign
R1929:Rab3gap2	UTSW	1	185283542	critical splice donor site	probably null
R1994:Rab3gap2	UTSW	1	185236024	missense	probably damaging	1.00
R2010:Rab3gap2	UTSW	1	185278281	missense	possibly damaging	0.57
R2102:Rab3gap2	UTSW	1	185282389	missense	probably benign	0.00
R2120:Rab3gap2	UTSW	1	185261367	missense	possibly damaging	0.95
R2219:Rab3gap2	UTSW	1	185275916	missense	probably damaging	0.99
R2259:Rab3gap2	UTSW	1	185221859	missense	probably damaging	1.00
R2270:Rab3gap2	UTSW	1	185283542	critical splice donor site	probably null
R2272:Rab3gap2	UTSW	1	185283542	critical splice donor site	probably null
R3083:Rab3gap2	UTSW	1	185204269	missense	probably benign	0.00
R3776:Rab3gap2	UTSW	1	185277205	missense	probably damaging	1.00
R4050:Rab3gap2	UTSW	1	185272643	critical splice donor site	probably null
R4130:Rab3gap2	UTSW	1	185204297	missense	possibly damaging	0.51
R4176:Rab3gap2	UTSW	1	185246666	missense	probably damaging	0.99
R4296:Rab3gap2	UTSW	1	185255837	critical splice donor site	probably null
R4416:Rab3gap2	UTSW	1	185282347	missense	probably benign	0.00
R4426:Rab3gap2	UTSW	1	185235342	missense	probably damaging	1.00
R4516:Rab3gap2	UTSW	1	185267068	missense	probably benign
R4518:Rab3gap2	UTSW	1	185267068	missense	probably benign
R4891:Rab3gap2	UTSW	1	185259366	missense	probably benign	0.00
R4913:Rab3gap2	UTSW	1	185262829	missense	probably benign	0.12
R4955:Rab3gap2	UTSW	1	185267155	intron	probably benign
R5411:Rab3gap2	UTSW	1	185277145	critical splice acceptor site	probably null
R5516:Rab3gap2	UTSW	1	185235487	missense	probably benign	0.02
R5670:Rab3gap2	UTSW	1	185221899	missense	probably benign
R5670:Rab3gap2	UTSW	1	185277205	missense	probably damaging	1.00
R6380:Rab3gap2	UTSW	1	185235984	missense	probably damaging	1.00
R6533:Rab3gap2	UTSW	1	185232954	splice site	probably null
R6655:Rab3gap2	UTSW	1	185250011	missense	probably damaging	1.00
R6676:Rab3gap2	UTSW	1	185283410	missense	probably damaging	1.00
R6726:Rab3gap2	UTSW	1	185247865	missense	probably damaging	0.99
R6969:Rab3gap2	UTSW	1	185236012	missense	probably damaging	1.00
R7151:Rab3gap2	UTSW	1	185248053	missense	probably benign	0.00
R7168:Rab3gap2	UTSW	1	185204297	missense	possibly damaging	0.51
R7196:Rab3gap2	UTSW	1	185281667	missense	probably damaging	1.00
R7201:Rab3gap2	UTSW	1	185267191	missense	probably damaging	1.00
R7371:Rab3gap2	UTSW	1	185251068	missense	probably damaging	1.00
R7573:Rab3gap2	UTSW	1	185282382	missense	probably benign
R7779:Rab3gap2	UTSW	1	185259444	missense	probably damaging	0.98
R7913:Rab3gap2	UTSW	1	185262816	missense	possibly damaging	0.88
R7922:Rab3gap2	UTSW	1	185249920	missense	probably benign	0.00
R8115:Rab3gap2	UTSW	1	185267250	missense	possibly damaging	0.90
R8203:Rab3gap2	UTSW	1	185267179	missense	probably damaging	1.00
R8242:Rab3gap2	UTSW	1	185221853	missense	probably benign
R8322:Rab3gap2	UTSW	1	185246680	missense	probably benign	0.42
R8360:Rab3gap2	UTSW	1	185267073	intron	probably benign
R8515:Rab3gap2	UTSW	1	185262820	missense	probably benign	0.15
Z1088:Rab3gap2	UTSW	1	185281677	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCCACACCCAGACGAAGGAAGG -3'
(R):5'- ATGCAGTGGTTCATGTAGTCACAGG -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- TCACAGGACTGTAGGCTACTG -3'

Posted On

2014-05-23