Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Gdi2'

250242

Institutional Source

Beutler Lab

Gene Symbol

Gdi2

Ensembl Gene

ENSMUSG00000021218

Gene Name

GDP dissociation inhibitor 2

Synonyms

GDI beta, GDIB, Gdi3, GDI-B

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3588075-3616261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3612034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 330 (S330A)

Ref Sequence

ENSEMBL: ENSMUSP00000152454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059515] [ENSMUST00000096069] [ENSMUST00000222365] [ENSMUST00000223396]

AlphaFold

Q61598

Predicted Effect

probably benign
Transcript: ENSMUST00000059515
AA Change: S294A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218
AA Change: S294A

Domain	Start	End	E-Value	Type
Pfam:GDI	1	436	4.6e-239	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096069

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799

Domain	Start	End	E-Value	Type
Pfam:DUF3699	91	167	1.4e-24	PFAM
low complexity region	272	282	N/A	INTRINSIC
low complexity region	447	459	N/A	INTRINSIC
Pfam:DUF3715	533	695	2.3e-25	PFAM
low complexity region	1156	1168	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1312	1330	N/A	INTRINSIC
low complexity region	2012	2021	N/A	INTRINSIC
low complexity region	2250	2263	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000221581
AA Change: S31A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221875

Predicted Effect

probably benign
Transcript: ENSMUST00000222365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222615

Predicted Effect

probably benign
Transcript: ENSMUST00000223396
AA Change: S330A

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223046

Predicted Effect

probably benign
Transcript: ENSMUST00000222909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223501

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,882,446 (GRCm39)	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,075,025 (GRCm39)	V131I	probably benign	Het
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,071,650 (GRCm39)	V324A	probably damaging	Het
Ahnak	A	T	19: 8,980,215 (GRCm39)	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,266 (GRCm39)	D851G	probably damaging	Het
Amot	T	C	X: 144,259,287 (GRCm39)	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,106,138 (GRCm39)	E161*	probably null	Het
Atg9b	A	T	5: 24,591,992 (GRCm39)	I669N	probably damaging	Het
Ccdc83	A	G	7: 89,877,639 (GRCm39)	Y268H	probably damaging	Het
Cep170	A	G	1: 176,602,201 (GRCm39)	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,428,213 (GRCm39)	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,770,813 (GRCm39)	Y231F	probably benign	Het
Defa39	T	G	8: 22,192,653 (GRCm39)	K114N	possibly damaging	Het
Dock3	A	T	9: 106,791,740 (GRCm39)	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,469,861 (GRCm39)	I629N	probably damaging	Het
Dst	A	T	1: 34,231,893 (GRCm39)	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,383,906 (GRCm39)	P343L	probably benign	Het
Fbrs	A	G	7: 127,086,511 (GRCm39)		probably null	Het
Fbxl13	A	C	5: 21,727,135 (GRCm39)	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,534,673 (GRCm39)	S164T	probably damaging	Het
Gm5878	A	T	6: 85,095,613 (GRCm39)	M70K	probably benign	Het
H2-Q6	G	T	17: 35,643,913 (GRCm39)	A21S	probably benign	Het
Hfm1	A	T	5: 106,995,519 (GRCm39)		probably null	Het
Hnmt	C	T	2: 23,909,167 (GRCm39)	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,485,779 (GRCm39)	A310D	probably damaging	Het
Ints1	A	T	5: 139,757,569 (GRCm39)		probably null	Het
Kcne4	C	A	1: 78,795,688 (GRCm39)	A112E	possibly damaging	Het
Krt32	T	C	11: 99,977,192 (GRCm39)	K236R	possibly damaging	Het
Maml2	T	C	9: 13,617,794 (GRCm39)	L380P	probably damaging	Het
Meis1	A	T	11: 18,938,356 (GRCm39)	D218E	possibly damaging	Het
Mon1b	G	A	8: 114,365,752 (GRCm39)	G360D	probably damaging	Het
Mpp4	A	G	1: 59,169,216 (GRCm39)	S383P	probably damaging	Het
Neb	A	G	2: 52,059,065 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,717,912 (GRCm39)	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,439,481 (GRCm39)	L134P	probably damaging	Het
Opcml	G	A	9: 28,814,663 (GRCm39)		probably null	Het
Or2t29	A	T	11: 58,433,920 (GRCm39)	Y127*	probably null	Het
Or6c207	T	C	10: 129,105,135 (GRCm39)	Q19R	probably benign	Het
Or7c19	T	C	8: 85,957,693 (GRCm39)	S190P	probably damaging	Het
Pate2	A	T	9: 35,581,776 (GRCm39)		probably null	Het
Pgr	G	A	9: 8,900,718 (GRCm39)	V84M	probably damaging	Het
Pigu	A	T	2: 155,141,002 (GRCm39)	V296D	probably damaging	Het
Plcb2	G	A	2: 118,546,130 (GRCm39)	T555M	probably damaging	Het
Pld5	T	G	1: 175,791,542 (GRCm39)	D426A	probably benign	Het
Prdm2	G	T	4: 142,838,320 (GRCm39)	C1679*	probably null	Het
Psme2b	A	T	11: 48,836,890 (GRCm39)	V19D	probably benign	Het
Ptpn9	A	T	9: 56,934,712 (GRCm39)	N159Y	possibly damaging	Het
Sanbr	T	A	11: 23,526,801 (GRCm39)	R190W	probably damaging	Het
Sdc3	A	T	4: 130,546,114 (GRCm39)	T64S	unknown	Het
Serping1	T	G	2: 84,600,563 (GRCm39)	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,050,150 (GRCm39)	F436S	probably benign	Het
Sntb1	A	T	15: 55,769,575 (GRCm39)	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spink1	G	T	18: 43,868,287 (GRCm39)	S23*	probably null	Het
Stag1	T	C	9: 100,727,169 (GRCm39)		probably null	Het
Tnfaip8l1	G	A	17: 56,479,030 (GRCm39)	V107I	probably benign	Het
Tnik	A	G	3: 28,700,830 (GRCm39)	S907G	probably damaging	Het
Ttf1	T	A	2: 28,957,197 (GRCm39)	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp54	G	A	14: 20,615,008 (GRCm39)	A811V	probably benign	Het
Xirp2	A	G	2: 67,344,815 (GRCm39)	N2352S	probably benign	Het
Zan	T	C	5: 137,387,254 (GRCm39)	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,254,012 (GRCm39)	S161P	probably benign	Het
Zkscan5	A	T	5: 145,157,750 (GRCm39)	I751L	probably benign	Het
Zscan4d	A	G	7: 10,899,022 (GRCm39)	F85S	probably damaging	Het
Zzef1	A	G	11: 72,806,091 (GRCm39)	M2647V	probably benign	Het

Other mutations in Gdi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Gdi2	APN	13	3,606,467 (GRCm39)	missense	probably benign	0.04
IGL01135:Gdi2	APN	13	3,598,855 (GRCm39)	splice site	probably benign
IGL01402:Gdi2	APN	13	3,614,611 (GRCm39)	missense	probably benign	0.24
IGL01404:Gdi2	APN	13	3,614,611 (GRCm39)	missense	probably benign	0.24
IGL02100:Gdi2	APN	13	3,606,373 (GRCm39)	missense	probably benign	0.03
IGL02305:Gdi2	APN	13	3,606,428 (GRCm39)	missense	probably damaging	1.00
IGL02545:Gdi2	APN	13	3,607,009 (GRCm39)	missense	probably damaging	1.00
IGL02561:Gdi2	APN	13	3,598,954 (GRCm39)	missense	possibly damaging	0.94
IGL02939:Gdi2	APN	13	3,614,623 (GRCm39)	missense	probably benign	0.21
E0354:Gdi2	UTSW	13	3,611,939 (GRCm39)	splice site	probably null
R1612:Gdi2	UTSW	13	3,610,051 (GRCm39)	missense	probably benign	0.00
R1775:Gdi2	UTSW	13	3,610,018 (GRCm39)	missense	possibly damaging	0.71
R1803:Gdi2	UTSW	13	3,614,547 (GRCm39)	nonsense	probably null
R2254:Gdi2	UTSW	13	3,604,400 (GRCm39)	splice site	probably null
R4081:Gdi2	UTSW	13	3,598,866 (GRCm39)	missense	probably benign	0.10
R6365:Gdi2	UTSW	13	3,615,093 (GRCm39)	missense	possibly damaging	0.82
R7130:Gdi2	UTSW	13	3,598,891 (GRCm39)	missense	probably benign	0.12
R7268:Gdi2	UTSW	13	3,606,363 (GRCm39)	nonsense	probably null
R7349:Gdi2	UTSW	13	3,606,395 (GRCm39)	missense	probably benign	0.16
R7590:Gdi2	UTSW	13	3,614,611 (GRCm39)	missense	probably benign	0.24
R7753:Gdi2	UTSW	13	3,598,956 (GRCm39)	missense	probably benign	0.01
R8114:Gdi2	UTSW	13	3,598,906 (GRCm39)	missense	probably damaging	1.00
R9375:Gdi2	UTSW	13	3,614,869 (GRCm39)	missense	probably benign	0.34
R9731:Gdi2	UTSW	13	3,588,299 (GRCm39)	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- ATGTTTTGTCACAGATTGCTCGC -3'
(R):5'- GACTCATCCATGCACTCCAG -3'

Sequencing Primer
(F):5'- GTCACAGATTGCTCGCTGTAAACAG -3'
(R):5'- GCAGACATTCCAGGCAGTG -3'

Posted On

2014-11-12