Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4498001:Rab3gap2'

556044

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap2

Ensembl Gene

ENSMUSG00000039318

Gene Name

RAB3 GTPase activating protein subunit 2

Synonyms

1110059F07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4498001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

184936314-185018956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 185013882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1196 (I1196N)

Ref Sequence

ENSEMBL: ENSMUSP00000066325 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 damaging
Transcript: ENSMUST00000069652
AA Change: I1196N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: I1196N

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 damaging
Transcript: ENSMUST00000194740
AA Change: I1176N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: I1176N

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: 93.2%
3x: 91.0%
10x: 86.1%
20x: 75.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	T	C	19: 40,562,800 (GRCm39)	N191S	probably benign	Het
Cacnb2	T	A	2: 14,879,630 (GRCm39)	L84*	probably null	Het
Cdhr2	C	T	13: 54,866,052 (GRCm39)	T284M	possibly damaging	Het
Defb45	T	C	2: 152,438,394 (GRCm39)		probably benign	Het
Dkk3	C	T	7: 111,718,679 (GRCm39)	V236M	probably benign	Het
Dscc1	A	T	15: 54,945,711 (GRCm39)	V328D	probably benign	Het
Epha3	T	C	16: 63,372,889 (GRCm39)	Y938C	probably damaging	Het
Erc1	A	T	6: 119,756,452 (GRCm39)	F435I	possibly damaging	Het
Fbxl5	T	C	5: 43,908,323 (GRCm39)	Y626C	possibly damaging	Het
Fmn2	A	G	1: 174,440,170 (GRCm39)	R1196G	probably damaging	Het
Gabrr1	C	T	4: 33,160,225 (GRCm39)	S303F	probably damaging	Het
Ggt1	T	C	10: 75,414,689 (GRCm39)	V169A	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm3182	T	A	14: 4,481,832 (GRCm38)	C9S	probably damaging	Het
Gpr88	A	C	3: 116,046,264 (GRCm39)	S16A	unknown	Het
Kalrn	A	T	16: 33,851,952 (GRCm39)	M2076K	possibly damaging	Het
Katnip	A	G	7: 125,412,768 (GRCm39)	T371A	probably benign	Het
Kcnd3	T	C	3: 105,566,025 (GRCm39)	I402T	probably damaging	Het
Mink1	A	G	11: 70,489,714 (GRCm39)	D57G	probably benign	Het
Ncl	T	C	1: 86,279,162 (GRCm39)	T584A	possibly damaging	Het
Nfx1	A	T	4: 40,977,244 (GRCm39)	Q306L	probably benign	Het
Ogdh	A	T	11: 6,290,504 (GRCm39)	D374V	probably benign	Het
Or5d39	T	A	2: 87,980,259 (GRCm39)	T35S	probably benign	Het
Pak5	T	A	2: 135,925,211 (GRCm39)	H697L	probably damaging	Het
Pappa	T	C	4: 65,234,469 (GRCm39)	C1425R	probably damaging	Het
Pramel26	T	C	4: 143,539,406 (GRCm39)	E29G	possibly damaging	Het
Ralyl	A	T	3: 14,172,299 (GRCm39)	D56V	probably damaging	Het
Scin	C	T	12: 40,119,446 (GRCm39)		probably null	Het
Slc25a19	T	C	11: 115,514,781 (GRCm39)	I69V	possibly damaging	Het
Slc8a1	G	T	17: 81,956,269 (GRCm39)	Y256*	probably null	Het
Smyd1	T	C	6: 71,196,272 (GRCm39)	H372R	probably benign	Het
St8sia1	T	C	6: 142,859,848 (GRCm39)	T94A	probably damaging	Het
Stard9	T	A	2: 120,527,916 (GRCm39)	M1391K	possibly damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Trim50	A	G	5: 135,382,331 (GRCm39)	D61G	probably damaging	Het
Ttn	G	A	2: 76,597,295 (GRCm39)	P19873S	probably damaging	Het
Vmn1r228	G	T	17: 20,996,772 (GRCm39)	H249N	probably benign	Het
Vmn2r108	C	T	17: 20,683,279 (GRCm39)	G642S	probably damaging	Het
Wdr27	A	G	17: 15,154,831 (GRCm39)	S29P	probably benign	Het
Zan	A	G	5: 137,415,298 (GRCm39)		probably null	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
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
R8242:Rab3gap2	UTSW	1	184,954,050 (GRCm39)	missense	probably benign
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'- GCCATCTTAAAGGCTGGTGG -3'
(R):5'- GAAACTAGCTCCTGGGAATCAC -3'

Sequencing Primer
(F):5'- CATCTTAAAGGCTGGTGGTCACAC -3'
(R):5'- CTAGCTCCTGGGAATCACTTGAAG -3'

Posted On

2019-06-07