Mutagenetix > Incidental Mutation

Incidental Mutation 'R5881:Rgl2'

454450

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

044085-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33932717 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 245 (D245G)

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 benign
Transcript: ENSMUST00000047503
AA Change: D245G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: D245G

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

Coding Region Coverage

1x: 99.9%
3x: 99.3%
10x: 94.5%
20x: 78.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	C	11: 95,834,387	L159W	probably damaging	Het
Abi3	A	T	11: 95,834,388	L159M	probably damaging	Het
Adam11	A	C	11: 102,773,810	I406L	probably benign	Het
Ager	G	T	17: 34,600,077	V300L	probably damaging	Het
Ank3	C	T	10: 69,986,830	S1726L	probably benign	Het
Boc	A	G	16: 44,490,651	I740T	probably damaging	Het
C8a	T	A	4: 104,853,932	D178V	probably damaging	Het
Ces3a	G	A	8: 105,050,566	V174M	probably damaging	Het
Cisd1	A	T	10: 71,336,414	W13R	probably damaging	Het
Commd8	A	T	5: 72,162,764	D111E	probably benign	Het
Ddx60	A	T	8: 62,037,070	D1691V	probably damaging	Het
Desi2	A	G	1: 178,237,913	Y15C	probably damaging	Het
Dnmt1	A	G	9: 20,952,717	V24A	probably damaging	Het
Dock10	G	A	1: 80,560,923	T968M	probably benign	Het
Dsel	A	T	1: 111,859,438	F1122L	probably damaging	Het
Eml3	T	C	19: 8,933,443	F220L	probably damaging	Het
Entpd2	A	C	2: 25,400,812	N443H	probably damaging	Het
Epgn	A	G	5: 91,028,363	N36S	probably benign	Het
Fsip2	G	T	2: 82,984,441	S3506I	possibly damaging	Het
Gm10436	A	G	12: 88,176,341	L169P	probably damaging	Het
Gprin3	T	C	6: 59,354,786	S179G	probably benign	Het
Grifin	G	T	5: 140,563,587	H125N	possibly damaging	Het
Hils1	A	G	11: 94,968,163	T95A	possibly damaging	Het
Hmcn1	A	G	1: 150,630,327	V3816A	probably damaging	Het
Hspa14	A	G	2: 3,498,170	F196L	probably benign	Het
Ice1	T	C	13: 70,606,501	K489E	probably benign	Het
Jmjd6	C	T	11: 116,839,856	W117*	probably null	Het
Lrit2	G	T	14: 37,072,235	A419S	probably benign	Het
Mc3r	T	C	2: 172,249,172	S105P	probably benign	Het
Mccc1	A	G	3: 35,964,382	V601A	probably benign	Het
Myo1f	A	G	17: 33,576,653	D91G	probably damaging	Het
Myo1f	G	A	17: 33,580,285	E255K	possibly damaging	Het
Necap1	T	A	6: 122,881,544	D115E	probably benign	Het
Olfr1271	A	T	2: 90,266,442		probably null	Het
Olfr65	T	A	7: 103,906,676	M79K	probably damaging	Het
Olfr725	G	A	14: 50,034,987	R139C	probably benign	Het
Papd4	A	T	13: 93,175,738	C180*	probably null	Het
Papln	A	G	12: 83,771,878	E78G	probably null	Het
Phldb3	T	C	7: 24,626,722		probably null	Het
Pkd1l2	A	G	8: 116,997,582	I2394T	probably damaging	Het
Ppa2	A	T	3: 133,330,439	N118I	probably damaging	Het
Ppef2	A	T	5: 92,250,529	C43*	probably null	Het
Rab27a	G	A	9: 73,085,039		probably null	Het
Rabgap1l	A	T	1: 160,342,113	F47I	probably damaging	Het
Rala	A	G	13: 17,893,161	I95T	probably damaging	Het
Rnf34	A	T	5: 122,864,083	T35S	probably damaging	Het
Ros1	C	T	10: 52,181,798	R51Q	probably benign	Het
Samd9l	T	C	6: 3,372,716	D1515G	possibly damaging	Het
Scn7a	T	C	2: 66,675,526	E1673G	probably benign	Het
Slc6a20a	A	C	9: 123,641,708		probably null	Het
Tdrd5	A	T	1: 156,294,500	S280T	probably damaging	Het
Tie1	T	C	4: 118,475,603	I911V	possibly damaging	Het
Vipas39	G	A	12: 87,251,807	R194*	probably null	Het
Ybx3	A	C	6: 131,368,488	N307K	possibly damaging	Het
Ylpm1	A	T	12: 85,042,125	H1216L	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
R0347:Rgl2	UTSW	17	33932738	missense	probably damaging	1.00
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
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'- CTTGCTTCGGACAGGGTATG -3'
(R):5'- TCTGAGGCTCTTAAGTGGCC -3'

Sequencing Primer
(F):5'- TTCGGACAGGGTATGCAGCAC -3'
(R):5'- TCTTAAGTGGCCAGGGACCAG -3'

Posted On

2017-02-10