Mutagenetix > Incidental Mutations

Incidental Mutation 'R8322:Rab3gap2'

641996

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap2

Ensembl Gene

ENSMUSG00000039318

Gene Name

RAB3 GTPase activating protein subunit 2

Synonyms

1110059F07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8322 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

185204117-185286759 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 185246680 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 285 (N285Y)

Ref Sequence

ENSEMBL: ENSMUSP00000066325 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069652
AA Change: N285Y

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: N285Y

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

probably benign
Transcript: ENSMUST00000194740
AA Change: N285Y

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: N285Y

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,445,375	S209G	probably benign	Het
Aars	T	C	8: 111,045,528	L450P	possibly damaging	Het
Acsbg1	G	A	9: 54,615,984	T453M	probably benign	Het
Aff3	A	G	1: 38,181,661	S1100P	possibly damaging	Het
B4galt5	G	A	2: 167,348,929	A35V	probably benign	Het
BC017158	C	T	7: 128,290,614	R1H	probably damaging	Het
C1qtnf1	T	C	11: 118,447,857	S118P	probably benign	Het
Ceacam20	A	T	7: 19,971,703	E206D	probably damaging	Het
Celsr3	T	C	9: 108,848,794	L3066P	probably damaging	Het
Cers3	T	G	7: 66,789,638	L299R	probably damaging	Het
Cfhr2	G	T	1: 139,810,958	H288Q	probably benign	Het
Cnot1	A	T	8: 95,769,844	M278K	probably benign	Het
Cnot10	T	C	9: 114,627,469	E166G	probably damaging	Het
Ctsd	T	A	7: 142,385,460	D76V	probably damaging	Het
Cyp1a1	T	A	9: 57,702,720	F472L	probably damaging	Het
Dupd1	A	T	14: 21,702,882	D65E	probably damaging	Het
Dusp19	T	A	2: 80,624,291	D118E	probably damaging	Het
Eif2ak3	C	A	6: 70,878,919	R236S	probably damaging	Het
Fam169a	A	G	13: 97,122,752	T439A	probably benign	Het
Flg	T	C	3: 93,284,332	Y11H	unknown	Het
Fn1	T	A	1: 71,628,459	I792L	probably benign	Het
Fzd7	T	C	1: 59,483,083	S42P	probably benign	Het
Gimap3	A	G	6: 48,765,436	S187P	possibly damaging	Het
Gli1	C	A	10: 127,331,608	R592L	probably damaging	Het
Glt8d2	A	T	10: 82,662,203	I124N	probably damaging	Het
Hbp1	C	T	12: 31,933,388	D356N	probably damaging	Het
Hif1a	T	C	12: 73,939,599	S367P	probably benign	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Itpr1	C	A	6: 108,388,229	N880K	probably benign	Het
Kank1	T	C	19: 25,378,478		probably benign	Het
Kat2a	T	C	11: 100,712,290	T39A	unknown	Het
Kcnk2	T	A	1: 189,339,849	Q98L	probably benign	Het
Kcnn4	G	A	7: 24,384,120	G409S	probably benign	Het
Klrb1	T	A	6: 128,713,613	I49F	probably damaging	Het
Larp4	G	A	15: 100,010,356	V573I	probably benign	Het
Lrpprc	A	G	17: 84,740,068		probably null	Het
Mybl1	A	G	1: 9,676,281	S385P	probably damaging	Het
Nup62	T	C	7: 44,829,016	S152P	possibly damaging	Het
Olfr96	A	G	17: 37,225,350	Y75C	probably damaging	Het
Pcdh12	G	A	18: 38,281,577	Q832*	probably null	Het
Pcid2	A	G	8: 13,078,555	I368T	probably damaging	Het
Pcnx4	T	A	12: 72,556,663	F492I	probably damaging	Het
Pi4ka	A	G	16: 17,357,573	Y464H		Het
Plekhg5	T	G	4: 152,104,744	S260R	possibly damaging	Het
Prkdc	T	A	16: 15,714,141		probably benign	Het
Prr14	A	T	7: 127,473,827	E115D	probably benign	Het
Rhot1	T	A	11: 80,257,560	C609S	possibly damaging	Het
Rnf123	T	C	9: 108,068,507	Q360R	probably benign	Het
Rnf219	A	T	14: 104,479,655	D427E	probably damaging	Het
Rrp12	T	C	19: 41,880,219	T562A	probably benign	Het
Rundc1	G	A	11: 101,432,166	G317D	probably benign	Het
Slc14a1	A	T	18: 78,102,441	I426N	possibly damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc45a3	A	G	1: 131,977,785	D182G	probably damaging	Het
Sos1	A	T	17: 80,408,299	F1010I	probably damaging	Het
Tap1	A	G	17: 34,193,189	E456G	probably damaging	Het
Tha1	A	T	11: 117,868,667	V332E	probably damaging	Het
Tmem18	T	A	12: 30,588,518	I93N	probably damaging	Het
Tnrc18	A	G	5: 142,726,012	F2664S	probably damaging	Het
Tpm3	T	A	3: 90,073,704		probably benign	Het
Ttc3	A	G	16: 94,454,492	E1615G	probably damaging	Het
Ube3b	A	G	5: 114,402,686	T485A	probably benign	Het
Vmn2r92	A	G	17: 18,166,624	Y75C	probably damaging	Het
Zfp169	T	C	13: 48,491,099	D184G	unknown	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
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
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'- CTTGGTGCTCTCTAACGTGG -3'
(R):5'- CAGGTGAAACATGCAACTTAATCTCTC -3'

Sequencing Primer
(F):5'- CTCTCTAACGTGGGTATTTGTAGC -3'
(R):5'- CATGCAACTTAATCTCTCTAAGGC -3'

Posted On

2020-07-28