Mutagenetix > Incidental Mutations

Incidental Mutation 'R1599:Rab3gap2'

175999

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap2

Ensembl Gene

ENSMUSG00000039318

Gene Name

RAB3 GTPase activating protein subunit 2

Synonyms

1110059F07Rik

MMRRC Submission

039636-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

185204117-185286759 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 185251026 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 454 (T454I)

Ref Sequence

ENSEMBL: ENSMUSP00000141608 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069652
AA Change: T454I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: T454I

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: ENSMUST00000193245

Predicted Effect

probably benign
Transcript: ENSMUST00000194740
AA Change: T454I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: T454I

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,150,259	E202G	probably damaging	Het
9230110F15Rik	T	C	9: 35,839,037	N113S	probably benign	Het
Adam23	A	G	1: 63,570,933	D698G	possibly damaging	Het
Adam3	T	C	8: 24,725,361	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,711	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,467,313	R297*	probably null	Het
Ahdc1	A	T	4: 133,064,936	S1163C	possibly damaging	Het
AI481877	A	T	4: 59,072,349	N622K	possibly damaging	Het
Axl	A	G	7: 25,763,969	Y619H	probably damaging	Het
Bcl11a	G	T	11: 24,163,887	C410F	probably damaging	Het
Brca2	C	A	5: 150,548,713	S2359*	probably null	Het
Calca	A	G	7: 114,634,472	S75P	probably damaging	Het
Ccpg1	T	A	9: 72,999,125	Y54*	probably null	Het
Cfap161	A	T	7: 83,776,079	M268K	possibly damaging	Het
Cfap61	T	A	2: 146,012,163	V365E	probably benign	Het
Cgnl1	T	C	9: 71,641,427	I1000V	probably benign	Het
Chd2	A	T	7: 73,473,051	D978E	probably benign	Het
Ctgf	A	T	10: 24,597,399	R279W	probably benign	Het
Cyth1	G	A	11: 118,177,221	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,167,730	D505E	probably benign	Het
Dgkd	A	G	1: 87,881,886	T99A	possibly damaging	Het
Fam161a	A	T	11: 23,021,093	M180L	probably benign	Het
Gar1	G	T	3: 129,830,604	R80S	probably benign	Het
Gm28042	T	C	2: 120,036,463	S419P	probably benign	Het
Gm5591	A	C	7: 38,520,370	C360G	probably benign	Het
Golga2	A	G	2: 32,303,173	H427R	probably benign	Het
Gpt2	A	G	8: 85,512,234	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,053,625	H118L	unknown	Het
Ice2	T	A	9: 69,411,442	C303S	probably null	Het
Ikzf3	C	A	11: 98,467,093	G473C	probably damaging	Het
Kansl3	A	T	1: 36,367,870	D38E	probably damaging	Het
Kcna6	A	T	6: 126,739,319	D202E	probably benign	Het
Klhl21	G	A	4: 152,012,300	G341D	probably damaging	Het
Klhl29	A	T	12: 5,093,538	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,570,575	L2449F	probably damaging	Het
Kmt5c	A	G	7: 4,741,900	E10G	probably damaging	Het
Lama3	C	T	18: 12,450,400	Q682*	probably null	Het
Lamb3	T	C	1: 193,320,493	V82A	probably damaging	Het
Larp4b	C	T	13: 9,122,150	T2I	probably damaging	Het
Man2a1	T	C	17: 64,679,831	Y613H	possibly damaging	Het
Mcm3	G	A	1: 20,820,198	T4I	probably benign	Het
Mki67	C	T	7: 135,699,934	A1124T	probably benign	Het
Mlh3	A	T	12: 85,268,369	L348I	probably damaging	Het
Mmrn1	G	A	6: 60,945,037	M159I	probably benign	Het
Muc5ac	A	T	7: 141,798,903	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nosip	A	G	7: 45,074,006	N32S	probably benign	Het
Npat	T	C	9: 53,562,404	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,390,024	I522N	probably damaging	Het
Olfr347	G	T	2: 36,734,989	V223F	probably benign	Het
Olfr457	T	A	6: 42,471,242	K312M	probably damaging	Het
Olfr653	A	G	7: 104,579,648	M1V	probably null	Het
Olfr850	T	A	9: 19,478,221	T7S	probably damaging	Het
Pappa2	A	G	1: 158,857,172	F799S	probably damaging	Het
Pcdha1	C	T	18: 37,185,237	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,868,597	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 109,636,384	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,572,627	V491L	probably benign	Het
Prickle2	T	C	6: 92,410,874	T516A	probably benign	Het
Prr27	G	T	5: 87,843,225	R232L	probably benign	Het
Rgs11	C	A	17: 26,208,249	H385N	probably damaging	Het
S1pr5	T	A	9: 21,243,934	T399S	probably benign	Het
Sacs	G	A	14: 61,203,638	M1044I	probably benign	Het
Sec31b	T	A	19: 44,523,153	Q603L	possibly damaging	Het
Setx	G	A	2: 29,140,373	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,707,512	P444S	probably benign	Het
Strn3	T	A	12: 51,652,766	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,394,387	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,338,318	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,408,981	V64A	probably damaging	Het
Trafd1	A	T	5: 121,379,657	N24K	probably damaging	Het
Ttc41	T	C	10: 86,776,573	S1237P	probably benign	Het
Ttll1	A	G	15: 83,497,354	V238A	probably benign	Het
Vps50	T	C	6: 3,565,537	S492P	probably benign	Het
Zic1	T	C	9: 91,361,688	I409V	probably benign	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
R1758:Rab3gap2	UTSW	1	185283884	missense	probably benign	0.13
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'- AGGACCTACTGTTGAGCCCAGATG -3'
(R):5'- GCTAGAGCAAACTCACGGAAGTCAG -3'

Sequencing Primer
(F):5'- CTGTTGAGCCCAGATGAATAAACTG -3'
(R):5'- CATGATCCTCAAGTCTATGTCAGG -3'

Posted On

2014-04-24