Mutagenetix > Incidental Mutation

Incidental Mutation 'R4953:Drg2'

381410

Institutional Source

Beutler Lab

Gene Symbol

Drg2

Ensembl Gene

ENSMUSG00000020537

Gene Name

developmentally regulated GTP binding protein 2

Synonyms

MMRRC Submission

042550-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R4953 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

60345442-60359589 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 60350262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018568 (fasta)

Gene Model

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

AlphaFold

Q9QXB9

Predicted Effect

probably benign
Transcript: ENSMUST00000018568

SMART Domains

Protein: ENSMUSP00000018568
Gene: ENSMUSG00000020537

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,128,525 (GRCm39)	Y129H	probably damaging	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgre1	G	A	17: 57,748,321 (GRCm39)	G507E	probably damaging	Het
Agpat5	G	A	8: 18,918,971 (GRCm39)	V118I	probably benign	Het
Aif1	T	C	17: 35,390,074 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,488,608 (GRCm39)		probably null	Het
Akt2	T	A	7: 27,337,597 (GRCm39)		probably null	Het
Ankrd35	T	A	3: 96,590,989 (GRCm39)	L425Q	possibly damaging	Het
Arhgap40	A	G	2: 158,385,326 (GRCm39)	T520A	possibly damaging	Het
Arhgef28	T	A	13: 98,066,062 (GRCm39)	D1597V	possibly damaging	Het
Aspm	A	G	1: 139,399,472 (GRCm39)	D1079G	probably benign	Het
Atp1a2	A	T	1: 172,119,009 (GRCm39)		probably benign	Het
Cage1	C	A	13: 38,207,406 (GRCm39)	E252D	possibly damaging	Het
Ccdc185	A	G	1: 182,576,582 (GRCm39)	S36P	possibly damaging	Het
Cd300a	T	C	11: 114,784,247 (GRCm39)	V85A	probably damaging	Het
Cd38	A	C	5: 44,064,887 (GRCm39)	D235A	possibly damaging	Het
Cdcp1	T	C	9: 123,009,088 (GRCm39)	K530R	probably benign	Het
Ceacam20	T	A	7: 19,705,651 (GRCm39)	L214Q	probably damaging	Het
Cntn4	G	A	6: 106,502,379 (GRCm39)	A379T	probably benign	Het
Col4a2	A	T	8: 11,479,505 (GRCm39)	E796V	probably benign	Het
Copa	A	G	1: 171,910,453 (GRCm39)		probably benign	Het
Cpa5	A	G	6: 30,631,363 (GRCm39)	T426A	possibly damaging	Het
Csmd1	A	G	8: 16,249,931 (GRCm39)	F1016L	probably damaging	Het
Cyb5r3	A	T	15: 83,042,822 (GRCm39)	L290*	probably null	Het
Ddx42	A	G	11: 106,133,766 (GRCm39)	T581A	probably damaging	Het
Deaf1	C	T	7: 140,902,381 (GRCm39)	G221S	probably damaging	Het
Dnah6	A	G	6: 73,165,366 (GRCm39)	S580P	probably benign	Het
Dock1	A	G	7: 134,754,017 (GRCm39)	E1598G	probably benign	Het
Eif3f	C	A	7: 108,533,847 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Gas7	C	T	11: 67,550,876 (GRCm39)	T126M	possibly damaging	Het
Gckr	T	G	5: 31,465,608 (GRCm39)	F408C	probably damaging	Het
Gm17472	A	G	6: 42,958,004 (GRCm39)	D91G	probably damaging	Het
Gm5117	G	A	8: 32,228,608 (GRCm39)		noncoding transcript	Het
Gsto1	T	A	19: 47,843,759 (GRCm39)	I47N	probably damaging	Het
Hck	C	T	2: 152,976,597 (GRCm39)	P244S	probably damaging	Het
Hif3a	T	C	7: 16,784,490 (GRCm39)	T250A	probably damaging	Het
Hmcn1	A	T	1: 150,752,111 (GRCm39)		probably benign	Het
Impa1	G	A	3: 10,380,340 (GRCm39)	S247F	probably damaging	Het
Ints14	G	C	9: 64,889,340 (GRCm39)	R397P	probably damaging	Het
Iqgap1	T	C	7: 80,373,524 (GRCm39)		probably null	Het
Krt1c	T	C	15: 101,722,377 (GRCm39)	K436R	probably damaging	Het
Lama3	G	A	18: 12,581,362 (GRCm39)	C607Y	probably damaging	Het
Loxl4	G	T	19: 42,599,133 (GRCm39)		probably benign	Het
Lrrc8d	C	T	5: 105,961,234 (GRCm39)	T548M	probably damaging	Het
Man1b1	T	A	2: 25,228,196 (GRCm39)	D155E	probably damaging	Het
Mapk8ip2	C	T	15: 89,341,431 (GRCm39)	P214L	probably benign	Het
Mast1	G	A	8: 85,645,357 (GRCm39)	T696I	probably damaging	Het
Muc15	C	T	2: 110,561,617 (GRCm39)	P18S	probably damaging	Het
Mybl2	T	C	2: 162,922,716 (GRCm39)	S205P	probably damaging	Het
Mylk	T	C	16: 34,809,331 (GRCm39)	S1763P	probably damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nfib	A	G	4: 82,271,808 (GRCm39)	M252T	probably benign	Het
Nid2	C	A	14: 19,828,146 (GRCm39)	Y261*	probably null	Het
Nmd3	C	T	3: 69,638,970 (GRCm39)	R187C	possibly damaging	Het
Nomo1	G	T	7: 45,700,155 (GRCm39)		probably benign	Het
Npy4r	A	G	14: 33,868,437 (GRCm39)	F284L	probably damaging	Het
Nt5dc2	T	C	14: 30,860,878 (GRCm39)	V351A	possibly damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5b121	T	A	19: 13,507,178 (GRCm39)	L91Q	probably null	Het
Or5g27	T	A	2: 85,410,069 (GRCm39)	L162*	probably null	Het
Pcdhb12	T	A	18: 37,569,209 (GRCm39)	D118E	probably damaging	Het
Pdcd11	C	T	19: 47,116,404 (GRCm39)	T1518I	probably benign	Het
Pde6a	T	A	18: 61,364,434 (GRCm39)	C163*	probably null	Het
Pign	A	T	1: 105,572,227 (GRCm39)	W314R	probably benign	Het
Pip5k1b	T	A	19: 24,367,799 (GRCm39)	H76L	probably damaging	Het
Plcz1	T	C	6: 139,974,277 (GRCm39)	N55S	possibly damaging	Het
Pou5f1	A	T	17: 35,821,438 (GRCm39)	H350L	possibly damaging	Het
Rchy1	A	T	5: 92,110,487 (GRCm39)		probably null	Het
Ric8b	A	G	10: 84,793,946 (GRCm39)	T270A	possibly damaging	Het
Rprml	A	G	11: 103,540,644 (GRCm39)	E13G	probably benign	Het
Secisbp2	T	A	13: 51,836,063 (GRCm39)	I719N	probably damaging	Het
Sergef	C	T	7: 46,283,259 (GRCm39)	R148H	probably benign	Het
Serpina6	T	A	12: 103,618,221 (GRCm39)		probably null	Het
Sirpb1b	C	A	3: 15,613,887 (GRCm39)	W65L	probably damaging	Het
Slc32a1	A	T	2: 158,455,977 (GRCm39)	I211F	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Smarce1	A	G	11: 99,105,977 (GRCm39)	V226A	probably benign	Het
Spata31d1b	A	T	13: 59,864,097 (GRCm39)	E415V	probably damaging	Het
Speg	G	A	1: 75,400,508 (GRCm39)	R2556H	possibly damaging	Het
Suclg2	A	C	6: 95,543,417 (GRCm39)	V338G	probably damaging	Het
Tarbp1	T	C	8: 127,174,184 (GRCm39)	E874G	possibly damaging	Het
Tex14	G	T	11: 87,427,727 (GRCm39)		probably null	Het
Trim36	T	A	18: 46,329,245 (GRCm39)	D53V	possibly damaging	Het
Tsga10ip	T	A	19: 5,444,368 (GRCm39)	Y21F	possibly damaging	Het
Ttn	C	T	2: 76,620,289 (GRCm39)	V15849M	probably damaging	Het
Ube3b	T	C	5: 114,539,471 (GRCm39)	S421P	probably benign	Het
Unc5a	A	T	13: 55,147,683 (GRCm39)	M498L	probably benign	Het
Vipr2	A	G	12: 116,107,876 (GRCm39)	I420M	probably benign	Het
Vmn1r179	T	A	7: 23,628,515 (GRCm39)	H235Q	probably damaging	Het
Vps35	T	A	8: 86,008,475 (GRCm39)	I267F	probably damaging	Het
Wdr26	G	A	1: 181,025,216 (GRCm39)	R279W	probably damaging	Het
Xpo6	C	A	7: 125,768,443 (GRCm39)	R88L	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp105	T	A	9: 122,758,880 (GRCm39)	S184T	probably benign	Het
Zfp574	G	A	7: 24,780,388 (GRCm39)	R470H	probably damaging	Het
Zswim9	T	A	7: 13,003,484 (GRCm39)	H122L	probably damaging	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
R3434:Drg2	UTSW	11	60,352,218 (GRCm39)	nonsense	probably null
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
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'- TGAGGCCTCCAAAGACCATG -3'
(R):5'- TAGGGACAGCTACCTCAGATG -3'

Sequencing Primer
(F):5'- TCCAAAGACCATGGACTCTGGTG -3'
(R):5'- CAGCTACCTCAGATGCTTATATAAGG -3'

Posted On

2016-04-27