Mutagenetix > Incidental Mutation

Incidental Mutation 'R8242:Rab3gap2'

637587

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap2

Ensembl Gene

ENSMUSG00000039318

Gene Name

RAB3 GTPase activating protein subunit 2

Synonyms

1110059F07Rik

MMRRC Submission

067647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

184936314-185018956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 184954050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 41 (S41T)

Ref Sequence

ENSEMBL: ENSMUSP00000066325 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069652
AA Change: S41T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: S41T

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: S41T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: S41T

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,374,118 (GRCm39)	Y736H	possibly damaging	Het
Akr1c12	G	A	13: 4,322,269 (GRCm39)	R258*	probably null	Het
Ankfn1	C	G	11: 89,417,271 (GRCm39)		probably null	Het
Arfgef3	T	C	10: 18,505,824 (GRCm39)	K947E	probably benign	Het
Barx2	C	A	9: 31,824,227 (GRCm39)	R54L	probably damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl11a	T	A	11: 24,113,208 (GRCm39)	F184I	probably benign	Het
Cfap251	T	A	5: 123,411,914 (GRCm39)	D515E	possibly damaging	Het
Cfap43	A	G	19: 47,885,808 (GRCm39)	L269P	probably damaging	Het
Col8a1	G	T	16: 57,452,721 (GRCm39)	P94Q	possibly damaging	Het
Coq5	T	C	5: 115,417,806 (GRCm39)	V12A	probably benign	Het
Csmd1	A	G	8: 16,760,670 (GRCm39)	V155A	probably benign	Het
Defb22	A	C	2: 152,328,007 (GRCm39)	C59W	probably damaging	Het
Dsg3	A	G	18: 20,669,980 (GRCm39)	T665A	possibly damaging	Het
Gm10542	A	G	18: 44,337,708 (GRCm39)	D62G	possibly damaging	Het
Gm45861	G	A	8: 28,038,821 (GRCm39)	S987N	unknown	Het
Gm5591	T	A	7: 38,219,746 (GRCm39)	T376S	probably benign	Het
Hps3	C	T	3: 20,068,290 (GRCm39)	R588H	possibly damaging	Het
Itpr1	A	T	6: 108,363,658 (GRCm39)	D760V	probably benign	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mroh2b	A	T	15: 4,938,522 (GRCm39)	R270S	probably benign	Het
Mroh4	G	T	15: 74,488,157 (GRCm39)	H350N	possibly damaging	Het
Nsd3	G	T	8: 26,196,567 (GRCm39)	E1183*	probably null	Het
Or13a19	T	A	7: 139,902,696 (GRCm39)	L28*	probably null	Het
Or4p7	A	G	2: 88,222,418 (GRCm39)	I276V	possibly damaging	Het
Or51f23b	T	C	7: 102,402,306 (GRCm39)	M277V	probably benign	Het
Or8k53	A	T	2: 86,177,426 (GRCm39)	M228K	probably damaging	Het
Pex5l	T	A	3: 33,060,184 (GRCm39)	T196S	probably benign	Het
Phlpp2	T	C	8: 110,666,834 (GRCm39)	V1121A	probably benign	Het
Rad51c	A	T	11: 87,280,712 (GRCm39)	N293K	probably damaging	Het
Rgs3	C	A	4: 62,538,022 (GRCm39)	Q18K	probably benign	Het
Ripk2	C	T	4: 16,124,430 (GRCm39)	G426D	probably benign	Het
Rpl22l1	T	C	3: 28,860,914 (GRCm39)	V44A	possibly damaging	Het
Sntb1	C	T	15: 55,655,629 (GRCm39)	A196T	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Tdrd6	T	C	17: 43,939,821 (GRCm39)	E409G	probably damaging	Het
Timm50	A	T	7: 28,007,836 (GRCm39)	D105E	probably benign	Het
Tsga10	A	T	1: 37,846,182 (GRCm39)	S315T	probably benign	Het
Ttpa	G	A	4: 20,028,511 (GRCm39)	C256Y	probably damaging	Het
Vinac1	G	T	2: 128,881,313 (GRCm39)	C204*	probably null	Het
Vmn2r13	T	C	5: 109,322,872 (GRCm39)	Y139C	possibly damaging	Het
Washc5	A	G	15: 59,215,971 (GRCm39)	S803P	probably damaging	Het
Zfp985	A	C	4: 147,668,639 (GRCm39)	K502N	possibly damaging	Het

Other mutations in Rab3gap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Rab3gap2	APN	1	184,971,067 (GRCm39)	missense	probably damaging	1.00
IGL01620:Rab3gap2	APN	1	184,936,523 (GRCm39)	missense	probably benign
IGL01977:Rab3gap2	APN	1	184,999,220 (GRCm39)	nonsense	probably null
IGL02183:Rab3gap2	APN	1	185,003,665 (GRCm39)	nonsense	probably null
IGL02229:Rab3gap2	APN	1	184,991,580 (GRCm39)	missense	possibly damaging	0.71
IGL02231:Rab3gap2	APN	1	184,999,095 (GRCm39)	splice site	probably benign
IGL02506:Rab3gap2	APN	1	184,984,221 (GRCm39)	splice site	probably benign
IGL02618:Rab3gap2	APN	1	184,983,938 (GRCm39)	missense	possibly damaging	0.79
IGL02643:Rab3gap2	APN	1	184,999,197 (GRCm39)	missense	possibly damaging	0.69
IGL03239:Rab3gap2	APN	1	184,982,091 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Rab3gap2	UTSW	1	185,013,882 (GRCm39)	missense	probably damaging	1.00
R0173:Rab3gap2	UTSW	1	184,982,104 (GRCm39)	missense	possibly damaging	0.51
R0372:Rab3gap2	UTSW	1	184,994,891 (GRCm39)	missense	possibly damaging	0.93
R0492:Rab3gap2	UTSW	1	184,984,589 (GRCm39)	splice site	probably benign
R0510:Rab3gap2	UTSW	1	184,992,705 (GRCm39)	splice site	probably benign
R0708:Rab3gap2	UTSW	1	184,982,123 (GRCm39)	missense	probably damaging	0.99
R0711:Rab3gap2	UTSW	1	184,982,123 (GRCm39)	missense	probably damaging	0.99
R1135:Rab3gap2	UTSW	1	185,008,140 (GRCm39)	missense	possibly damaging	0.95
R1428:Rab3gap2	UTSW	1	184,980,101 (GRCm39)	missense	probably damaging	1.00
R1599:Rab3gap2	UTSW	1	184,983,223 (GRCm39)	missense	probably benign	0.07
R1758:Rab3gap2	UTSW	1	185,016,081 (GRCm39)	missense	probably benign	0.13
R1903:Rab3gap2	UTSW	1	184,954,099 (GRCm39)	missense	probably benign
R1929:Rab3gap2	UTSW	1	185,015,739 (GRCm39)	critical splice donor site	probably null
R1994:Rab3gap2	UTSW	1	184,968,221 (GRCm39)	missense	probably damaging	1.00
R2010:Rab3gap2	UTSW	1	185,010,478 (GRCm39)	missense	possibly damaging	0.57
R2102:Rab3gap2	UTSW	1	185,014,586 (GRCm39)	missense	probably benign	0.00
R2120:Rab3gap2	UTSW	1	184,993,564 (GRCm39)	missense	possibly damaging	0.95
R2219:Rab3gap2	UTSW	1	185,008,113 (GRCm39)	missense	probably damaging	0.99
R2259:Rab3gap2	UTSW	1	184,954,056 (GRCm39)	missense	probably damaging	1.00
R2270:Rab3gap2	UTSW	1	185,015,739 (GRCm39)	critical splice donor site	probably null
R2272:Rab3gap2	UTSW	1	185,015,739 (GRCm39)	critical splice donor site	probably null
R3083:Rab3gap2	UTSW	1	184,936,466 (GRCm39)	missense	probably benign	0.00
R3776:Rab3gap2	UTSW	1	185,009,402 (GRCm39)	missense	probably damaging	1.00
R4050:Rab3gap2	UTSW	1	185,004,840 (GRCm39)	critical splice donor site	probably null
R4130:Rab3gap2	UTSW	1	184,936,494 (GRCm39)	missense	possibly damaging	0.51
R4176:Rab3gap2	UTSW	1	184,978,863 (GRCm39)	missense	probably damaging	0.99
R4296:Rab3gap2	UTSW	1	184,988,034 (GRCm39)	critical splice donor site	probably null
R4416:Rab3gap2	UTSW	1	185,014,544 (GRCm39)	missense	probably benign	0.00
R4426:Rab3gap2	UTSW	1	184,967,539 (GRCm39)	missense	probably damaging	1.00
R4516:Rab3gap2	UTSW	1	184,999,265 (GRCm39)	missense	probably benign
R4518:Rab3gap2	UTSW	1	184,999,265 (GRCm39)	missense	probably benign
R4891:Rab3gap2	UTSW	1	184,991,563 (GRCm39)	missense	probably benign	0.00
R4913:Rab3gap2	UTSW	1	184,995,026 (GRCm39)	missense	probably benign	0.12
R4955:Rab3gap2	UTSW	1	184,999,352 (GRCm39)	intron	probably benign
R5411:Rab3gap2	UTSW	1	185,009,342 (GRCm39)	critical splice acceptor site	probably null
R5516:Rab3gap2	UTSW	1	184,967,684 (GRCm39)	missense	probably benign	0.02
R5670:Rab3gap2	UTSW	1	185,009,402 (GRCm39)	missense	probably damaging	1.00
R5670:Rab3gap2	UTSW	1	184,954,096 (GRCm39)	missense	probably benign
R6380:Rab3gap2	UTSW	1	184,968,181 (GRCm39)	missense	probably damaging	1.00
R6533:Rab3gap2	UTSW	1	184,965,151 (GRCm39)	splice site	probably null
R6655:Rab3gap2	UTSW	1	184,982,208 (GRCm39)	missense	probably damaging	1.00
R6676:Rab3gap2	UTSW	1	185,015,607 (GRCm39)	missense	probably damaging	1.00
R6726:Rab3gap2	UTSW	1	184,980,062 (GRCm39)	missense	probably damaging	0.99
R6969:Rab3gap2	UTSW	1	184,968,209 (GRCm39)	missense	probably damaging	1.00
R7151:Rab3gap2	UTSW	1	184,980,250 (GRCm39)	missense	probably benign	0.00
R7168:Rab3gap2	UTSW	1	184,936,494 (GRCm39)	missense	possibly damaging	0.51
R7196:Rab3gap2	UTSW	1	185,013,864 (GRCm39)	missense	probably damaging	1.00
R7201:Rab3gap2	UTSW	1	184,999,388 (GRCm39)	missense	probably damaging	1.00
R7371:Rab3gap2	UTSW	1	184,983,265 (GRCm39)	missense	probably damaging	1.00
R7573:Rab3gap2	UTSW	1	185,014,579 (GRCm39)	missense	probably benign
R7779:Rab3gap2	UTSW	1	184,991,641 (GRCm39)	missense	probably damaging	0.98
R7913:Rab3gap2	UTSW	1	184,995,013 (GRCm39)	missense	possibly damaging	0.88
R7922:Rab3gap2	UTSW	1	184,982,117 (GRCm39)	missense	probably benign	0.00
R8115:Rab3gap2	UTSW	1	184,999,447 (GRCm39)	missense	possibly damaging	0.90
R8203:Rab3gap2	UTSW	1	184,999,376 (GRCm39)	missense	probably damaging	1.00
R8322:Rab3gap2	UTSW	1	184,978,877 (GRCm39)	missense	probably benign	0.42
R8360:Rab3gap2	UTSW	1	184,999,270 (GRCm39)	intron	probably benign
R8515:Rab3gap2	UTSW	1	184,995,017 (GRCm39)	missense	probably benign	0.15
R8678:Rab3gap2	UTSW	1	184,983,281 (GRCm39)	missense	probably damaging	1.00
R8833:Rab3gap2	UTSW	1	184,990,722 (GRCm39)	missense	probably damaging	1.00
R9175:Rab3gap2	UTSW	1	185,009,360 (GRCm39)	missense	probably damaging	1.00
R9267:Rab3gap2	UTSW	1	184,983,331 (GRCm39)	missense	probably damaging	0.99
R9312:Rab3gap2	UTSW	1	185,015,684 (GRCm39)	missense	probably benign	0.00
R9443:Rab3gap2	UTSW	1	184,967,523 (GRCm39)	missense	probably damaging	1.00
R9564:Rab3gap2	UTSW	1	185,014,691 (GRCm39)	missense	probably damaging	1.00
R9642:Rab3gap2	UTSW	1	184,967,692 (GRCm39)	missense	probably benign	0.28
Z1088:Rab3gap2	UTSW	1	185,013,874 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGACAGCTCACACAGTCAC -3'
(R):5'- CATTCCAAAAGGAAATGTCACTCTC -3'

Sequencing Primer
(F):5'- CCTGGCCTATGTAACAAGTGTCAG -3'
(R):5'- TGACAACCTGAGTTCGATGC -3'

Posted On

2020-07-13