Mutagenetix > Incidental Mutation

Incidental Mutation 'R1135:Rab3gap2'

94886

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap2

Ensembl Gene

ENSMUSG00000039318

Gene Name

RAB3 GTPase activating protein subunit 2

Synonyms

1110059F07Rik

MMRRC Submission

039208-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1135 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

184936314-185018956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 185008140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1085 (R1085Q)

Ref Sequence

ENSEMBL: ENSMUSP00000066325 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069652
AA Change: R1085Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: R1085Q

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: ENSMUST00000193482

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194740
AA Change: R1065Q

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: R1065Q

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: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	G	T	4: 148,029,115 (GRCm39)	V362L	probably benign	Het
Ak5	T	A	3: 152,359,299 (GRCm39)	L166F	probably damaging	Het
Camk2a	T	A	18: 61,090,468 (GRCm39)		probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,839,498 (GRCm39)	I643N	probably damaging	Het
Fibin	G	A	2: 110,192,567 (GRCm39)	H192Y	probably benign	Het
Ints11	T	C	4: 155,972,384 (GRCm39)		probably null	Het
Lct	A	G	1: 128,221,861 (GRCm39)		probably null	Het
Msantd2	A	G	9: 37,434,008 (GRCm39)	I83V	probably damaging	Het
Myh10	A	T	11: 68,698,023 (GRCm39)	M1622L	probably benign	Het
Nkx2-4	G	T	2: 146,926,328 (GRCm39)	S178*	probably null	Het
Nox4	C	T	7: 86,972,997 (GRCm39)	P335S	probably damaging	Het
Skint10	C	T	4: 112,568,660 (GRCm39)	W352*	probably null	Het
Srsf4	T	G	4: 131,627,380 (GRCm39)		probably benign	Het
Sytl1	C	T	4: 132,984,281 (GRCm39)	G274D	probably damaging	Het
Tbck	T	A	3: 132,437,952 (GRCm39)	I459N	probably damaging	Het
Trhr2	A	G	8: 123,085,372 (GRCm39)	L204P	probably damaging	Het
Vps13d	T	C	4: 144,882,159 (GRCm39)	T1145A	probably benign	Het
Wnk2	G	A	13: 49,230,034 (GRCm39)	P830L	probably 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
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'- TGGTAGCCAACCAACAGTTAATTCCTG -3'
(R):5'- GGTCCCAGTTTTGAACAGCGACAC -3'

Sequencing Primer
(F):5'- ATTCCTGGCATGTGTATTTATAGC -3'
(R):5'- TAGCTGCTGTCTAGTCAAGGAAAC -3'

Posted On

2014-01-05