Mutagenetix > Incidental Mutation

Incidental Mutation 'R8114:Gdi2'

631078

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

067543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3588075-3616261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3598906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000152454 (fasta)

Gene Model

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

AlphaFold

Q61598

Predicted Effect

probably benign
Transcript: ENSMUST00000059515

SMART Domains

Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222365
AA Change: V30A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223396
AA Change: V30A

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.7%

Validation Efficiency

100% (64/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	T	16: 14,407,091 (GRCm39)	E7*	probably null	Het
Abca7	T	C	10: 79,844,874 (GRCm39)	I1532T	probably damaging	Het
Adam12	T	C	7: 133,569,617 (GRCm39)	D286G	probably damaging	Het
Ahnak2	T	C	12: 112,741,163 (GRCm39)	T970A	probably benign	Het
Apcdd1	A	G	18: 63,083,127 (GRCm39)	N319S	probably damaging	Het
Arih1	A	G	9: 59,303,836 (GRCm39)	M423T	probably benign	Het
Ccdc110	A	T	8: 46,396,140 (GRCm39)	Q677L	probably damaging	Het
Ccdc121rt3	C	A	5: 112,503,563 (GRCm39)	R47L	probably benign	Het
Ccdc171	A	G	4: 83,614,537 (GRCm39)	N1046S	probably damaging	Het
Ccdc63	G	T	5: 122,251,244 (GRCm39)	Q389K	possibly damaging	Het
Cd274	T	C	19: 29,361,528 (GRCm39)	S279P	probably damaging	Het
Cdcp2	A	T	4: 106,962,555 (GRCm39)	I243F	probably damaging	Het
Cfap298	T	C	16: 90,731,545 (GRCm39)	T22A	probably benign	Het
Cul2	A	T	18: 3,426,164 (GRCm39)	K414*	probably null	Het
Daglb	A	G	5: 143,464,218 (GRCm39)	H243R	probably benign	Het
Dnah5	A	T	15: 28,240,122 (GRCm39)	Y493F	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Eea1	G	T	10: 95,830,851 (GRCm39)	E171*	probably null	Het
Eml6	C	T	11: 29,704,910 (GRCm39)	G1545R	probably damaging	Het
Epg5	A	G	18: 78,073,365 (GRCm39)	I2463V	probably benign	Het
Fgl1	A	G	8: 41,644,620 (GRCm39)	Y295H	probably damaging	Het
Frrs1	A	G	3: 116,675,425 (GRCm39)	T118A	probably damaging	Het
Ints4	A	G	7: 97,165,732 (GRCm39)		probably null	Het
Iqsec3	A	G	6: 121,390,458 (GRCm39)	S338P	unknown	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Ldah	A	G	12: 8,334,039 (GRCm39)	E310G	probably damaging	Het
Mtnr1b	A	G	9: 15,785,563 (GRCm39)	V65A	probably damaging	Het
Myo7b	G	T	18: 32,098,677 (GRCm39)	T1735K	probably damaging	Het
Neb	A	T	2: 52,215,734 (GRCm39)	V191D	possibly damaging	Het
Oas1e	T	C	5: 120,924,708 (GRCm39)	T377A	unknown	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or10al6	T	C	17: 38,082,880 (GRCm39)	F112S	possibly damaging	Het
Or10v9	G	A	19: 11,832,466 (GRCm39)	P284S	probably damaging	Het
Or8k53	A	T	2: 86,177,530 (GRCm39)	H193Q	probably benign	Het
Platr25	T	C	13: 62,821,738 (GRCm39)	S70G	possibly damaging	Het
Plcl2	T	C	17: 50,994,815 (GRCm39)	S1095P	probably damaging	Het
Polq	A	G	16: 36,862,577 (GRCm39)	K637E	possibly damaging	Het
Rbm47	T	C	5: 66,184,196 (GRCm39)	I136V	probably benign	Het
Serpinb3c	A	C	1: 107,204,034 (GRCm39)	N59K	probably benign	Het
Shcbp1	T	A	8: 4,817,930 (GRCm39)	N122Y	probably damaging	Het
Sim2	T	C	16: 93,923,503 (GRCm39)	V347A	probably benign	Het
Slc22a30	A	T	19: 8,381,904 (GRCm39)	Y122*	probably null	Het
Slc34a2	G	A	5: 53,225,701 (GRCm39)	S450N	probably benign	Het
Snx17	A	T	5: 31,355,046 (GRCm39)	M354L	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Surf6	G	A	2: 26,782,380 (GRCm39)	Q316*	probably null	Het
Tiprl	A	G	1: 165,055,991 (GRCm39)	S44P	probably benign	Het
Tmem39a	T	G	16: 38,411,359 (GRCm39)	L438R	probably damaging	Het
Tmem39a	C	A	16: 38,411,358 (GRCm39)	L438M	probably damaging	Het
Tns2	G	C	15: 102,019,825 (GRCm39)	V572L	probably benign	Het
Trdn	T	C	10: 32,959,624 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,952,411 (GRCm39)	I587V	probably benign	Het
Usp47	A	G	7: 111,692,394 (GRCm39)	D952G	probably damaging	Het
Vmn2r58	A	T	7: 41,511,392 (GRCm39)	N470K	probably damaging	Het
Vmn2r67	A	T	7: 84,805,097 (GRCm39)	I5N	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ythdc2	A	G	18: 45,010,807 (GRCm39)	D1272G	probably benign	Het
Zfp959	A	G	17: 56,205,496 (GRCm39)	Y511C	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
R2426:Gdi2	UTSW	13	3,612,034 (GRCm39)	missense	probably benign	0.17
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
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'- AATCTCATTTTCGCCTTGGAGC -3'
(R):5'- TCAGCAATGGCATCTTCTGG -3'

Sequencing Primer
(F):5'- TCCCTGGAGTGCAGGAGAG -3'
(R):5'- CCAGCATGGTCTGTATAGAGTAC -3'

Posted On

2020-06-30