Mutagenetix > Incidental Mutation

Incidental Mutation 'R0347:Rgl2'

38483

Institutional Source

Beutler Lab

Gene Symbol

Rgl2

Ensembl Gene

ENSMUSG00000041354

Gene Name

ral guanine nucleotide dissociation stimulator-like 2

Synonyms

KE1.5, Rab2l, Rgt2, Rlf

MMRRC Submission

038554-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0347 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33932738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 252 (T252I)

Ref Sequence

ENSEMBL: ENSMUSP00000041082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025161] [ENSMUST00000047503]

AlphaFold

Q61193

PDB Structure

STRUCTURE DETERMINATION OF THE RAS-BINDING DOMAIN OF THE RAL-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR RLF, NMR, 10 STRUCTURES [SOLUTION NMR]
The conformation of a docking site for SH3 domains is pre-selected in the Guanine Nucleotide Exchange Factor Rlf [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000025161

SMART Domains

Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
low complexity region	127	152	N/A	INTRINSIC
IG	168	292	3.45e0	SMART
IG_like	302	406	4.78e1	SMART
transmembrane domain	416	438	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000047503
AA Change: T252I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: T252I

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	44	63	N/A	INTRINSIC
RasGEFN	87	212	9.54e-30	SMART
RasGEF	239	514	7.15e-106	SMART
low complexity region	578	592	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	633	648	N/A	INTRINSIC
RA	649	736	2.05e-19	SMART
low complexity region	737	762	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173266

Predicted Effect

probably benign
Transcript: ENSMUST00000173284

SMART Domains

Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354

Domain	Start	End	E-Value	Type
Blast:RasGEF	2	67	1e-35	BLAST
PDB:4JGW\|B	2	67	1e-35	PDB
SCOP:d1bkds_	2	94	3e-16	SMART
low complexity region	131	145	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	186	201	N/A	INTRINSIC
RA	202	289	2.05e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174676

Meta Mutation Damage Score

0.8863

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	T	10: 77,984,422	I209F	probably damaging	Het
5830411N06Rik	T	A	7: 140,297,854	H800Q	probably damaging	Het
Abca4	A	G	3: 122,120,099	E908G	probably benign	Het
Abcb5	T	A	12: 118,965,251		probably benign	Het
Adhfe1	T	A	1: 9,553,430	F102Y	probably benign	Het
Aff4	A	G	11: 53,400,088	Y625C	probably benign	Het
Alox5	T	C	6: 116,413,552	E488G	possibly damaging	Het
Ankmy2	T	C	12: 36,193,754	C323R	probably damaging	Het
Ankrd28	A	G	14: 31,702,022	*1084R	probably null	Het
Apol10a	A	T	15: 77,488,691	I176F	probably damaging	Het
Arhgap26	C	T	18: 38,617,744	T70I	unknown	Het
Arid2	A	G	15: 96,370,952	N982S	probably benign	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Camsap3	A	G	8: 3,602,029	D291G	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdc20b	G	T	13: 113,059,827	G162V	probably damaging	Het
Cep44	T	G	8: 56,545,475	E56A	probably damaging	Het
Cfap65	A	G	1: 74,926,444	L469P	probably damaging	Het
Cilp	T	A	9: 65,280,153	C1177S	probably benign	Het
Ctnnbip1	C	T	4: 149,545,754	P7S	probably damaging	Het
Cyp11a1	T	C	9: 58,016,260		probably benign	Het
Cyp3a11	C	T	5: 145,865,925	V253M	possibly damaging	Het
D630045J12Rik	C	A	6: 38,181,392	V1117L	probably damaging	Het
Dnah7b	T	A	1: 46,240,944	S2678T	probably damaging	Het
Dock1	T	C	7: 134,763,867	I428T	probably damaging	Het
Fam83f	A	G	15: 80,672,257	D114G	probably damaging	Het
Flt3	T	A	5: 147,357,992	N423I	probably damaging	Het
Fnbp1l	A	T	3: 122,590,175	F31L	probably damaging	Het
Glrx3	G	A	7: 137,437,701	E10K	unknown	Het
Gm12185	T	C	11: 48,915,182	E394G	probably benign	Het
Gm15448	A	T	7: 3,822,874	V332E	probably damaging	Het
Gpatch1	C	T	7: 35,297,631	V381M	probably benign	Het
Grm8	T	C	6: 27,981,222	S230G	probably benign	Het
Heyl	A	T	4: 123,233,940	D25V	probably benign	Het
Junb	G	A	8: 84,978,478		probably benign	Het
Klhl29	C	A	12: 5,084,354	V747F	probably damaging	Het
Krt77	T	C	15: 101,859,869	H569R	unknown	Het
Ldhb	T	C	6: 142,494,133	N227S	probably benign	Het
Megf6	A	G	4: 154,254,635	D543G	possibly damaging	Het
Mrps23	A	T	11: 88,210,693	Q136L	probably benign	Het
Myh2	C	T	11: 67,185,304		probably benign	Het
Nadk2	T	A	15: 9,084,207	D133E	probably benign	Het
Neurod4	G	A	10: 130,271,111	T98I	probably damaging	Het
Nfatc2	G	T	2: 168,536,290	T465K	probably damaging	Het
Nipbl	A	G	15: 8,350,732	S859P	probably benign	Het
Nipsnap3a	T	C	4: 52,997,155		probably benign	Het
Nlrp4c	A	G	7: 6,066,416	K439E	possibly damaging	Het
Olfr1419	A	T	19: 11,870,433	L261H	probably damaging	Het
Olfr392	C	T	11: 73,814,311	G257D	probably damaging	Het
Olfr434	T	C	6: 43,217,362	F150L	probably benign	Het
Pds5b	T	A	5: 150,736,427		probably benign	Het
Plch1	A	G	3: 63,753,316	M282T	probably damaging	Het
Plch2	C	A	4: 154,986,721	R1067L	possibly damaging	Het
Pou2f2	A	C	7: 25,097,701	F206V	probably damaging	Het
Prss50	A	G	9: 110,862,350	I49V	probably damaging	Het
Rexo5	T	A	7: 119,823,896		probably null	Het
Rp1l1	A	T	14: 64,030,804	K1280*	probably null	Het
Rpl24	T	A	16: 55,970,177		probably null	Het
Satb1	T	A	17: 51,739,906	K763*	probably null	Het
Sema6a	T	A	18: 47,291,129	R237S	probably damaging	Het
Spg11	T	C	2: 122,097,369	T645A	probably damaging	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Tanc1	T	C	2: 59,842,991	V1480A	probably benign	Het
Tbc1d2	T	C	4: 46,620,574	D412G	possibly damaging	Het
Tecrl	T	C	5: 83,294,632	E198G	probably damaging	Het
Tigd4	A	G	3: 84,593,860	D28G	probably damaging	Het
Trp53bp2	T	G	1: 182,441,648	L226V	probably benign	Het
Ttll13	T	C	7: 80,260,505	S799P	possibly damaging	Het
Vps13c	A	T	9: 67,910,233	Q1062H	possibly damaging	Het
Wnt10a	T	G	1: 74,793,543	H98Q	probably damaging	Het
Zfp651	C	T	9: 121,763,102	P198S	probably damaging	Het
Zfp959	T	A	17: 55,897,180	Y69*	probably null	Het
Znrd1as	T	A	17: 36,965,315	M114K	probably damaging	Het

Other mutations in Rgl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Rgl2	APN	17	33933136	missense	probably benign	0.31
IGL00898:Rgl2	APN	17	33933418	missense	possibly damaging	0.95
IGL00965:Rgl2	APN	17	33935936	missense	probably benign	0.00
IGL00985:Rgl2	APN	17	33932101	missense	probably damaging	1.00
IGL02140:Rgl2	APN	17	33933124	missense	probably damaging	1.00
IGL02214:Rgl2	APN	17	33935189	missense	probably benign	0.06
IGL02486:Rgl2	APN	17	33935980	missense	probably damaging	0.97
IGL02579:Rgl2	APN	17	33937160	missense	probably benign	0.08
IGL02976:Rgl2	APN	17	33933962	missense	possibly damaging	0.95
Hypotenuse	UTSW	17	33931739	missense	probably benign	0.00
Pedernales	UTSW	17	33932038	critical splice acceptor site	probably null
PIT4354001:Rgl2	UTSW	17	33933940	missense	possibly damaging	0.80
R0456:Rgl2	UTSW	17	33936849	splice site	probably null
R0825:Rgl2	UTSW	17	33935159	splice site	probably null
R1742:Rgl2	UTSW	17	33937223	splice site	probably null
R1777:Rgl2	UTSW	17	33931744	missense	probably benign	0.00
R1829:Rgl2	UTSW	17	33933621	missense	probably benign	0.00
R1908:Rgl2	UTSW	17	33932148	missense	probably benign	0.00
R1961:Rgl2	UTSW	17	33933615	missense	probably damaging	1.00
R2102:Rgl2	UTSW	17	33933340	splice site	probably null
R3001:Rgl2	UTSW	17	33932605	missense	probably benign	0.00
R3002:Rgl2	UTSW	17	33932605	missense	probably benign	0.00
R3755:Rgl2	UTSW	17	33932597	missense	probably benign	0.01
R3756:Rgl2	UTSW	17	33932597	missense	probably benign	0.01
R3978:Rgl2	UTSW	17	33935162	missense	probably benign	0.02
R4042:Rgl2	UTSW	17	33937262	missense	probably damaging	1.00
R4064:Rgl2	UTSW	17	33937108	missense	possibly damaging	0.77
R4204:Rgl2	UTSW	17	33936932	missense	probably benign	0.04
R4661:Rgl2	UTSW	17	33933226	missense	possibly damaging	0.77
R4852:Rgl2	UTSW	17	33937173	missense	probably benign	0.00
R4922:Rgl2	UTSW	17	33932775	unclassified	probably benign
R5119:Rgl2	UTSW	17	33937120	missense	probably benign	0.00
R5167:Rgl2	UTSW	17	33935974	nonsense	probably null
R5279:Rgl2	UTSW	17	33935948	missense	probably benign
R5319:Rgl2	UTSW	17	33933555	missense	probably benign	0.02
R5337:Rgl2	UTSW	17	33934984	missense	probably damaging	0.99
R5881:Rgl2	UTSW	17	33932717	missense	probably benign	0.01
R5945:Rgl2	UTSW	17	33932038	critical splice acceptor site	probably null
R6165:Rgl2	UTSW	17	33931765	missense	probably benign	0.01
R6358:Rgl2	UTSW	17	33937131	splice site	probably null
R6867:Rgl2	UTSW	17	33932687	missense	probably benign	0.09
R7174:Rgl2	UTSW	17	33934990	missense	possibly damaging	0.93
R7182:Rgl2	UTSW	17	33934990	missense	possibly damaging	0.93
R7183:Rgl2	UTSW	17	33934990	missense	possibly damaging	0.93
R7184:Rgl2	UTSW	17	33934990	missense	possibly damaging	0.93
R7196:Rgl2	UTSW	17	33933429	missense	probably damaging	1.00
R7203:Rgl2	UTSW	17	33933429	missense	probably damaging	1.00
R7250:Rgl2	UTSW	17	33933429	missense	probably damaging	1.00
R7253:Rgl2	UTSW	17	33934990	missense	possibly damaging	0.93
R7254:Rgl2	UTSW	17	33934990	missense	possibly damaging	0.93
R7255:Rgl2	UTSW	17	33934990	missense	possibly damaging	0.93
R7256:Rgl2	UTSW	17	33934990	missense	possibly damaging	0.93
R7282:Rgl2	UTSW	17	33933429	missense	probably damaging	1.00
R7455:Rgl2	UTSW	17	33932683	missense	probably benign	0.32
R7513:Rgl2	UTSW	17	33932555	missense	probably benign
R7752:Rgl2	UTSW	17	33935825	missense	possibly damaging	0.82
R7901:Rgl2	UTSW	17	33935825	missense	possibly damaging	0.82
R7941:Rgl2	UTSW	17	33931739	missense	probably benign	0.00
R8158:Rgl2	UTSW	17	33936944	missense	probably benign	0.27
R8209:Rgl2	UTSW	17	33932527	missense	possibly damaging	0.91
R8226:Rgl2	UTSW	17	33932527	missense	possibly damaging	0.91
R8405:Rgl2	UTSW	17	33933724	nonsense	probably null
R8871:Rgl2	UTSW	17	33935000	missense	probably damaging	1.00
R9205:Rgl2	UTSW	17	33936028	missense	probably damaging	1.00
R9591:Rgl2	UTSW	17	33932477	missense	possibly damaging	0.50
X0028:Rgl2	UTSW	17	33932458	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTGAGAGCTTCTTGCTTCGGAC -3'
(R):5'- CGCCACCTTGTTGAACTGTGTGAC -3'

Sequencing Primer
(F):5'- CTTCGGACAGGGTATGCAG -3'
(R):5'- CAAGTTTCCAGTATCAGGGATCTGAG -3'

Posted On

2013-05-23