Mutagenetix > Incidental Mutation

Incidental Mutation 'R7268:Gdi2'

565100

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

045319-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3588075-3616261 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 3606363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 146 (Y146*)

Ref Sequence

ENSEMBL: ENSMUSP00000152454 (fasta)

Gene Model

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

AlphaFold

Q61598

Predicted Effect

probably null
Transcript: ENSMUST00000059515
AA Change: Y110*

SMART Domains

Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218
AA Change: Y110*

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

Predicted Effect

probably null
Transcript: ENSMUST00000222365
AA Change: Y136*

Predicted Effect

probably null
Transcript: ENSMUST00000223396
AA Change: Y146*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,461,509 (GRCm39)		probably null	Het
Acsf3	A	G	8: 123,517,401 (GRCm39)	Y399C	probably benign	Het
Acsm5	A	T	7: 119,136,511 (GRCm39)	T361S	probably benign	Het
Agap1	T	G	1: 89,694,070 (GRCm39)	I456S	probably benign	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Alb	T	A	5: 90,610,575 (GRCm39)	S52T	probably benign	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Armt1	G	A	10: 4,400,855 (GRCm39)	V201M	possibly damaging	Het
Atp2a2	T	C	5: 122,605,792 (GRCm39)	T388A	probably benign	Het
Atp6v0a2	T	C	5: 124,796,930 (GRCm39)	L770P	probably damaging	Het
B4galnt3	A	T	6: 120,192,003 (GRCm39)	W578R	possibly damaging	Het
Babam2	T	C	5: 31,859,197 (GRCm39)	S2P	probably damaging	Het
Baz2a	A	G	10: 127,960,090 (GRCm39)	H1459R	possibly damaging	Het
Bbs7	C	T	3: 36,658,575 (GRCm39)	R233Q	probably benign	Het
Cacna2d1	G	A	5: 16,575,586 (GRCm39)	G1076R	probably damaging	Het
Camsap2	C	T	1: 136,201,483 (GRCm39)		probably null	Het
Car10	A	G	11: 93,490,077 (GRCm39)	N273D	probably benign	Het
Ccdc66	T	C	14: 27,208,880 (GRCm39)	D458G	probably benign	Het
Ccdc7a	T	A	8: 129,607,633 (GRCm39)	H982L	possibly damaging	Het
Col9a1	A	G	1: 24,246,479 (GRCm39)	K386E	possibly damaging	Het
Ctcfl	A	G	2: 172,949,588 (GRCm39)	I415T	probably benign	Het
Cyp3a16	G	C	5: 145,404,280 (GRCm39)	Y54*	probably null	Het
Dact2	T	C	17: 14,416,797 (GRCm39)	T468A	probably benign	Het
Dgkb	T	A	12: 38,197,554 (GRCm39)	L355*	probably null	Het
Dhx40	A	T	11: 86,697,442 (GRCm39)	C42S	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dop1a	G	T	9: 86,394,830 (GRCm39)	E637*	probably null	Het
Dpp4	G	T	2: 62,178,186 (GRCm39)	P649T	probably damaging	Het
Eri3	T	A	4: 117,506,580 (GRCm39)	I303K	probably benign	Het
Foxi1	A	T	11: 34,155,783 (GRCm39)	Y282*	probably null	Het
Gns	A	G	10: 121,212,557 (GRCm39)	Y173C	probably damaging	Het
Gpc1	C	A	1: 92,786,093 (GRCm39)	P494Q	possibly damaging	Het
Habp2	G	T	19: 56,302,518 (GRCm39)	G274V	probably damaging	Het
Hcfc2	T	A	10: 82,544,846 (GRCm39)	Y159*	probably null	Het
Hmcn2	T	A	2: 31,347,978 (GRCm39)	S4875T	possibly damaging	Het
Hmgcs2	A	G	3: 98,204,796 (GRCm39)	N318S	probably benign	Het
Lnpep	A	T	17: 17,758,803 (GRCm39)	M847K	probably benign	Het
Mmp16	A	C	4: 18,093,366 (GRCm39)	M374L	probably benign	Het
Mrpl38	A	G	11: 116,029,396 (GRCm39)	I40T	possibly damaging	Het
Ncstn	T	C	1: 171,908,830 (GRCm39)	T46A	possibly damaging	Het
Nlrp1a	C	T	11: 71,015,068 (GRCm39)	V61I	probably benign	Het
Npas2	G	T	1: 39,326,658 (GRCm39)	V48L	probably damaging	Het
Or13p5	A	G	4: 118,592,605 (GRCm39)	Y293C	probably damaging	Het
Or52ac1	G	A	7: 104,246,284 (GRCm39)	L35F	probably benign	Het
Or6c6	C	T	10: 129,187,263 (GRCm39)	T277I	possibly damaging	Het
Pcyox1	A	T	6: 86,368,713 (GRCm39)	N268K	possibly damaging	Het
Pramel14	A	T	4: 143,720,090 (GRCm39)		probably null	Het
Prr27	T	C	5: 87,991,135 (GRCm39)	L249P	probably damaging	Het
Psat1	A	T	19: 15,894,508 (GRCm39)	V168D	probably damaging	Het
Psg17	G	T	7: 18,548,586 (GRCm39)	T395K	possibly damaging	Het
Ptgis	A	G	2: 167,048,676 (GRCm39)	Y447H	probably benign	Het
Rad50	T	A	11: 53,575,102 (GRCm39)	N607I	probably benign	Het
Rps6ka2	T	C	17: 7,562,662 (GRCm39)	Y602H	possibly damaging	Het
Senp6	G	A	9: 80,049,406 (GRCm39)	R1010H	probably damaging	Het
Slc8a3	C	A	12: 81,361,827 (GRCm39)	D331Y	probably damaging	Het
Slc9c1	G	A	16: 45,370,479 (GRCm39)	S240N	probably damaging	Het
Slf1	A	G	13: 77,214,826 (GRCm39)	L620P	probably damaging	Het
Snx19	A	G	9: 30,351,473 (GRCm39)	E847G	probably damaging	Het
Spaca6	T	C	17: 18,052,369 (GRCm39)	V103A	probably benign	Het
Tbk1	A	G	10: 121,388,404 (GRCm39)	Y591H	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tfap2a	G	A	13: 40,882,236 (GRCm39)	T15I	possibly damaging	Het
Tgm2	G	A	2: 157,962,188 (GRCm39)	R544*	probably null	Het
Tmem116	T	A	5: 121,605,918 (GRCm39)	I90K		Het
Tmem30c	A	C	16: 57,086,777 (GRCm39)	L342R	probably damaging	Het
Trpm6	C	T	19: 18,755,949 (GRCm39)	T64I	probably benign	Het
Ttll8	A	G	15: 88,819,159 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,816,307 (GRCm39)	I692T	probably damaging	Het
Vmn1r169	T	G	7: 23,276,853 (GRCm39)	F82V	probably benign	Het
Vmn1r178	G	A	7: 23,593,378 (GRCm39)	C142Y	probably benign	Het
Vmn2r16	T	A	5: 109,488,331 (GRCm39)	Y401*	probably null	Het
Wdr91	A	G	6: 34,869,375 (GRCm39)	V383A	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
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'- TCTGCTGTGCAATTGAGTGC -3'
(R):5'- TCTGCACAGCTAGGTGATGAG -3'

Sequencing Primer
(F):5'- GCAATTGAGTGCTGTGAATGATC -3'
(R):5'- GATGAGAGCCATTAGCCTACTTACTC -3'

Posted On

2019-06-26