Mutagenetix > Incidental Mutation

Incidental Mutation 'R3434:Drg2'

266357

Institutional Source

Beutler Lab

Gene Symbol

Drg2

Ensembl Gene

ENSMUSG00000020537

Gene Name

developmentally regulated GTP binding protein 2

Synonyms

MMRRC Submission

040652-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60345442-60359589 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 60352218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 180 (K180*)

Ref Sequence

ENSEMBL: ENSMUSP00000018568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018568]

AlphaFold

Q9QXB9

Predicted Effect

probably null
Transcript: ENSMUST00000018568
AA Change: K180*

SMART Domains

Protein: ENSMUSP00000018568
Gene: ENSMUSG00000020537
AA Change: K180*

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:FeoB_N	63	169	1.4e-10	PFAM
Pfam:MMR_HSR1	64	180	1.5e-19	PFAM
Pfam:MMR_HSR1_Xtn	184	289	9.6e-50	PFAM
Pfam:TGS	290	363	2.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155731

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,508,511 (GRCm39)	A1008V	probably damaging	Het
Adora3	A	G	3: 105,812,231 (GRCm39)	K39R	probably benign	Het
Ankib1	A	G	5: 3,742,760 (GRCm39)	V1085A	probably damaging	Het
Atp7a	G	A	X: 105,138,463 (GRCm39)	R563K	probably benign	Het
Azin1	T	C	15: 38,493,820 (GRCm39)	I268V	probably benign	Het
Carm1	T	C	9: 21,480,769 (GRCm39)	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,470,688 (GRCm39)	Y152C	probably damaging	Het
Chrna3	T	A	9: 54,931,610 (GRCm39)	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,514,522 (GRCm39)		probably benign	Het
Clstn2	T	A	9: 97,336,768 (GRCm39)	D903V	probably benign	Het
Dpysl3	C	T	18: 43,494,126 (GRCm39)	V70I	probably benign	Het
Dync2h1	A	C	9: 7,011,236 (GRCm39)	H3659Q	probably benign	Het
Dysf	A	T	6: 84,047,870 (GRCm39)	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865 (GRCm39)	N533D	probably benign	Het
Fam47e	T	A	5: 92,733,221 (GRCm39)	V152D	probably damaging	Het
Fasn	G	A	11: 120,713,599 (GRCm39)	A24V	probably damaging	Het
Fhl4	T	C	10: 84,934,308 (GRCm39)	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,339,955 (GRCm39)	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,355,883 (GRCm39)	M358K	probably benign	Het
Ift74	A	G	4: 94,510,089 (GRCm39)		probably null	Het
Lhx4	A	G	1: 155,578,147 (GRCm39)	Y332H	probably damaging	Het
Mast2	A	T	4: 116,165,292 (GRCm39)	S1314T	probably benign	Het
Mast4	A	G	13: 102,923,887 (GRCm39)	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726 (GRCm39)		probably null	Het
Mrps23	A	G	11: 88,100,940 (GRCm39)	K44E	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116 (GRCm39)		probably null	Het
Notch3	A	T	17: 32,377,592 (GRCm39)	D161E	possibly damaging	Het
Or2ag13	A	T	7: 106,472,976 (GRCm39)	Y159N	probably benign	Het
Or4a67	T	C	2: 88,598,413 (GRCm39)	D82G	probably damaging	Het
Or5w11	T	C	2: 87,459,418 (GRCm39)	F204L	probably benign	Het
P2rx4	T	A	5: 122,863,133 (GRCm39)	I202K	probably damaging	Het
Phykpl	A	G	11: 51,489,482 (GRCm39)	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,162,234 (GRCm39)	A1047T	probably damaging	Het
Ppat	A	G	5: 77,065,912 (GRCm39)	I402T	probably damaging	Het
Rpgr	A	G	X: 10,042,841 (GRCm39)	S656P	probably benign	Het
Rsbn1l	T	C	5: 21,110,928 (GRCm39)		probably benign	Het
Sacs	A	G	14: 61,449,752 (GRCm39)	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,505,847 (GRCm39)	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,274,432 (GRCm39)	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,618,870 (GRCm39)	T277N	possibly damaging	Het
Slc35a5	A	G	16: 44,964,396 (GRCm39)	I279T	probably benign	Het
Slc39a10	T	C	1: 46,874,877 (GRCm39)	T142A	probably benign	Het
Tle3	T	A	9: 61,321,376 (GRCm39)		probably null	Het
Tmem117	T	C	15: 94,992,573 (GRCm39)	I411T	probably damaging	Het
Ttn	T	C	2: 76,698,721 (GRCm39)	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,708,381 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,465,955 (GRCm39)	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,990,267 (GRCm39)	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,330,370 (GRCm39)		probably benign	Het

Other mutations in Drg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03019:Drg2	APN	11	60,347,421 (GRCm39)	missense	probably damaging	1.00
R0356:Drg2	UTSW	11	60,352,407 (GRCm39)	missense	probably damaging	0.97
R1483:Drg2	UTSW	11	60,350,353 (GRCm39)	missense	probably damaging	1.00
R1501:Drg2	UTSW	11	60,355,679 (GRCm39)	missense	probably benign	0.00
R2517:Drg2	UTSW	11	60,358,954 (GRCm39)	missense	probably damaging	0.96
R3824:Drg2	UTSW	11	60,350,334 (GRCm39)	missense	possibly damaging	0.85
R3825:Drg2	UTSW	11	60,350,334 (GRCm39)	missense	possibly damaging	0.85
R3898:Drg2	UTSW	11	60,347,460 (GRCm39)	missense	probably benign
R4418:Drg2	UTSW	11	60,358,972 (GRCm39)	missense	probably damaging	1.00
R4732:Drg2	UTSW	11	60,352,222 (GRCm39)	critical splice donor site	probably null
R4733:Drg2	UTSW	11	60,352,222 (GRCm39)	critical splice donor site	probably null
R4953:Drg2	UTSW	11	60,350,262 (GRCm39)	splice site	probably benign
R5492:Drg2	UTSW	11	60,352,422 (GRCm39)	missense	probably damaging	0.99
R6007:Drg2	UTSW	11	60,353,451 (GRCm39)	missense	possibly damaging	0.55
R7282:Drg2	UTSW	11	60,345,519 (GRCm39)	missense	probably benign	0.30
R7417:Drg2	UTSW	11	60,345,506 (GRCm39)	start codon destroyed	probably null	0.77
R7697:Drg2	UTSW	11	60,353,003 (GRCm39)	missense	probably damaging	0.98
R7822:Drg2	UTSW	11	60,353,026 (GRCm39)	nonsense	probably null
R7911:Drg2	UTSW	11	60,355,001 (GRCm39)	missense	possibly damaging	0.83
R8094:Drg2	UTSW	11	60,353,096 (GRCm39)	missense	probably damaging	1.00
R9383:Drg2	UTSW	11	60,350,287 (GRCm39)	missense	probably benign	0.38
R9435:Drg2	UTSW	11	60,358,966 (GRCm39)	missense	probably benign	0.10
R9784:Drg2	UTSW	11	60,358,548 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AGCTCCACCACAGTTTTGGG -3'
(R):5'- CAGAGCATTGTGTCAGTGTG -3'

Sequencing Primer
(F):5'- CTCCACCACAGTTTTGGGATGTTG -3'
(R):5'- TGACTGTTGAGTTAAAGGAGATGCC -3'

Posted On

2015-02-18