Mutagenetix > Incidental Mutation

Incidental Mutation 'R2517:Drg2'

253957

Institutional Source

Beutler Lab

Gene Symbol

Drg2

Ensembl Gene

ENSMUSG00000020537

Gene Name

developmentally regulated GTP binding protein 2

Synonyms

MMRRC Submission

040421-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R2517 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60345442-60359589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60358954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 358 (V358A)

Ref Sequence

ENSEMBL: ENSMUSP00000018568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018568] [ENSMUST00000071880] [ENSMUST00000081823] [ENSMUST00000094135]

AlphaFold

Q9QXB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000018568
AA Change: V358A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018568
Gene: ENSMUSG00000020537
AA Change: V358A

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

probably benign
Transcript: ENSMUST00000071880

SMART Domains

Protein: ENSMUSP00000071777
Gene: ENSMUSG00000042678

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	87	100	N/A	INTRINSIC
low complexity region	107	120	N/A	INTRINSIC
low complexity region	269	292	N/A	INTRINSIC
low complexity region	295	306	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC
low complexity region	349	384	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC
low complexity region	487	498	N/A	INTRINSIC
low complexity region	502	509	N/A	INTRINSIC
low complexity region	653	681	N/A	INTRINSIC
low complexity region	692	705	N/A	INTRINSIC
low complexity region	737	747	N/A	INTRINSIC
low complexity region	758	775	N/A	INTRINSIC
low complexity region	781	792	N/A	INTRINSIC
low complexity region	796	809	N/A	INTRINSIC
low complexity region	825	849	N/A	INTRINSIC
low complexity region	883	897	N/A	INTRINSIC
low complexity region	1067	1082	N/A	INTRINSIC
low complexity region	1115	1130	N/A	INTRINSIC
MYSc	1200	1884	N/A	SMART
IQ	1885	1907	1.63e-1	SMART
IQ	1908	1930	1.77e-2	SMART
IQ	1931	1953	2.97e2	SMART
low complexity region	1955	1974	N/A	INTRINSIC
low complexity region	1992	2006	N/A	INTRINSIC
MyTH4	2049	2195	1.8e-42	SMART
low complexity region	2396	2405	N/A	INTRINSIC
low complexity region	2451	2461	N/A	INTRINSIC
Blast:MYSc	2665	2848	2e-14	BLAST
SH3	2851	2933	1.55e-4	SMART
low complexity region	2949	2962	N/A	INTRINSIC
MyTH4	3031	3185	5.59e-48	SMART
B41	3188	3400	6.94e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081823

SMART Domains

Protein: ENSMUSP00000080507
Gene: ENSMUSG00000042678

Domain	Start	End	E-Value	Type
MYSc	13	697	N/A	SMART
IQ	698	720	1.63e-1	SMART
IQ	721	743	1.77e-2	SMART
IQ	744	766	2.97e2	SMART
low complexity region	787	801	N/A	INTRINSIC
MyTH4	844	990	1.8e-42	SMART
low complexity region	1191	1200	N/A	INTRINSIC
low complexity region	1246	1256	N/A	INTRINSIC
Blast:MYSc	1460	1643	7e-15	BLAST
SH3	1646	1728	1.55e-4	SMART
low complexity region	1744	1757	N/A	INTRINSIC
MyTH4	1826	1980	5.59e-48	SMART
B41	1983	2195	6.94e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094135

SMART Domains

Protein: ENSMUSP00000091686
Gene: ENSMUSG00000042678

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	87	100	N/A	INTRINSIC
low complexity region	107	120	N/A	INTRINSIC
low complexity region	269	292	N/A	INTRINSIC
low complexity region	295	306	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC
low complexity region	349	384	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC
low complexity region	487	498	N/A	INTRINSIC
low complexity region	502	509	N/A	INTRINSIC
low complexity region	653	681	N/A	INTRINSIC
low complexity region	692	705	N/A	INTRINSIC
low complexity region	737	747	N/A	INTRINSIC
low complexity region	758	775	N/A	INTRINSIC
low complexity region	781	792	N/A	INTRINSIC
low complexity region	796	809	N/A	INTRINSIC
low complexity region	825	849	N/A	INTRINSIC
low complexity region	883	897	N/A	INTRINSIC
low complexity region	1067	1082	N/A	INTRINSIC
low complexity region	1115	1130	N/A	INTRINSIC
MYSc	1200	1884	N/A	SMART
IQ	1885	1907	1.63e-1	SMART
IQ	1908	1930	1.77e-2	SMART
IQ	1931	1953	2.97e2	SMART
low complexity region	1974	1988	N/A	INTRINSIC
MyTH4	2031	2177	1.8e-42	SMART
low complexity region	2378	2387	N/A	INTRINSIC
low complexity region	2433	2443	N/A	INTRINSIC
Blast:MYSc	2647	2830	2e-14	BLAST
SH3	2833	2915	1.55e-4	SMART
low complexity region	2931	2944	N/A	INTRINSIC
MyTH4	3013	3167	5.59e-48	SMART
B41	3170	3382	6.94e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.2%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	A	14: 56,019,403 (GRCm39)	E82D	probably damaging	Het
Ago1	G	A	4: 126,333,732 (GRCm39)	R486*	probably null	Het
Ago2	T	A	15: 72,996,091 (GRCm39)	N346I	possibly damaging	Het
Apol11a	A	T	15: 77,401,395 (GRCm39)	D294V	probably benign	Het
Atp13a5	A	G	16: 29,116,215 (GRCm39)	F634L	possibly damaging	Het
Atp2a2	G	A	5: 122,595,576 (GRCm39)	P953L	probably damaging	Het
Brca2	A	G	5: 150,463,137 (GRCm39)	D967G	probably benign	Het
Bud13	A	T	9: 46,199,446 (GRCm39)	H269L	probably benign	Het
Cachd1	A	T	4: 100,838,079 (GRCm39)		probably null	Het
Cog3	T	C	14: 75,979,182 (GRCm39)	D188G	probably benign	Het
Col15a1	T	C	4: 47,208,492 (GRCm39)	S20P	probably damaging	Het
Col4a3	A	G	1: 82,658,431 (GRCm39)	D838G	unknown	Het
Cwh43	A	T	5: 73,578,886 (GRCm39)	T298S	probably benign	Het
Dip2c	A	G	13: 9,659,041 (GRCm39)	R847G	probably damaging	Het
Dnah2	C	T	11: 69,407,470 (GRCm39)	D438N	probably damaging	Het
Eif4enif1	T	A	11: 3,171,168 (GRCm39)	W220R	probably damaging	Het
Enpp2	A	T	15: 54,783,090 (GRCm39)	I75K	probably damaging	Het
Fam110c	T	C	12: 31,125,238 (GRCm39)	I400T	probably damaging	Het
Fam193b	C	A	13: 55,690,629 (GRCm39)	R711L	probably damaging	Het
Fgfr1	T	C	8: 26,053,462 (GRCm39)	Y246H	probably damaging	Het
Frs3	G	A	17: 48,013,997 (GRCm39)	R230Q	probably benign	Het
Galnt5	A	G	2: 57,889,425 (GRCm39)	K342E	probably benign	Het
Glrb	A	T	3: 80,769,054 (GRCm39)	L189Q	probably damaging	Het
Gmeb2	T	C	2: 180,900,819 (GRCm39)	T193A	probably benign	Het
Gnl3	A	G	14: 30,736,120 (GRCm39)	S307P	probably damaging	Het
Golim4	A	T	3: 75,800,166 (GRCm39)	F443I	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Klf10	A	C	15: 38,297,357 (GRCm39)	Y228D	probably benign	Het
Klrc3	A	T	6: 129,616,520 (GRCm39)	W166R	probably damaging	Het
Kng2	A	T	16: 22,807,065 (GRCm39)	I378N	probably benign	Het
Map3k10	T	C	7: 27,362,688 (GRCm39)	K466R	possibly damaging	Het
Mrrf	C	T	2: 36,079,109 (GRCm39)	T245M	probably benign	Het
Msi1	A	G	5: 115,583,517 (GRCm39)	Y239C	probably damaging	Het
Nfasc	A	G	1: 132,525,501 (GRCm39)		probably null	Het
Or1x6	T	A	11: 50,939,300 (GRCm39)	L122Q	probably damaging	Het
Or7g25	A	T	9: 19,160,357 (GRCm39)	C113S	probably benign	Het
P3r3urf	A	G	4: 116,030,791 (GRCm39)	D65G	probably benign	Het
Pkd1l1	T	C	11: 8,908,900 (GRCm39)	E368G	unknown	Het
Polq	G	A	16: 36,909,687 (GRCm39)	G2078D	probably damaging	Het
Ppfibp1	A	C	6: 146,893,942 (GRCm39)	I134L	probably damaging	Het
Rasip1	A	T	7: 45,284,247 (GRCm39)	I608F	probably damaging	Het
Ripk3	A	T	14: 56,025,492 (GRCm39)	V24E	probably damaging	Het
Rtkn	T	A	6: 83,124,526 (GRCm39)	I110N	probably damaging	Het
Scn1a	C	T	2: 66,104,176 (GRCm39)	V1695I	probably damaging	Het
Shank2	A	G	7: 143,606,042 (GRCm39)	N75S	possibly damaging	Het
Snu13	C	A	15: 81,928,182 (GRCm39)	A14S	probably benign	Het
Snx27	A	C	3: 94,438,541 (GRCm39)	D231E	probably damaging	Het
Spef2	A	G	15: 9,725,283 (GRCm39)	I158T	possibly damaging	Het
Sptb	A	G	12: 76,696,643 (GRCm39)	I19T	possibly damaging	Het
Ssu72	T	C	4: 155,817,970 (GRCm39)	L175P	probably damaging	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tecr	C	T	8: 84,299,204 (GRCm39)	V248I	probably benign	Het
Tnfrsf13b	T	G	11: 61,032,302 (GRCm39)	S59A	probably benign	Het
Tom1l1	T	C	11: 90,561,951 (GRCm39)	T150A	possibly damaging	Het
Ubr3	A	T	2: 69,766,362 (GRCm39)	Y410F	probably damaging	Het
Vmn2r108	A	G	17: 20,692,577 (GRCm39)	I93T	probably damaging	Het
Vmn2r19	A	G	6: 123,306,937 (GRCm39)	T482A	probably benign	Het
Vstm4	T	A	14: 32,585,664 (GRCm39)	M77K	probably benign	Het
Zbtb17	C	T	4: 141,191,896 (GRCm39)	T309I	probably damaging	Het
Zfp957	T	C	14: 79,451,494 (GRCm39)	T102A	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
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
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'- AGAGTTTGCACTGTAGGAGCTC -3'
(R):5'- AGGCTTTATAGGGAATGTCCTC -3'

Sequencing Primer
(F):5'- AGGAGCTCCTACTTCCTTGG -3'
(R):5'- TTATAGGGAATGTCCTCAGCAAAGCC -3'

Posted On

2014-12-04