Mutagenetix > Incidental Mutation

Incidental Mutation 'R3755:Rgl2'

271418

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

040738-MU

Accession Numbers

Essential gene?

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

Stock #

R3755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33932597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 205 (A205D)

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: A205D

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

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: A205D

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

0.0597

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	A	10: 29,222,114	S169Y	probably damaging	Het
Abcb1a	G	A	5: 8,747,403	V1225M	possibly damaging	Het
Adamdec1	A	T	14: 68,577,138	I130N	probably damaging	Het
Atf7ip	T	A	6: 136,560,817	N357K	probably benign	Het
Bace2	C	G	16: 97,436,657	T436R	probably benign	Het
Capn13	G	A	17: 73,331,119	Q430*	probably null	Het
Ccdc30	A	T	4: 119,367,808		probably null	Het
Ces5a	T	C	8: 93,528,502	T184A	probably benign	Het
Cntnap5c	T	C	17: 58,104,599	C493R	possibly damaging	Het
Creb3l2	A	T	6: 37,364,026	I146N	possibly damaging	Het
Erich3	A	G	3: 154,764,321		probably benign	Het
Etl4	G	A	2: 20,743,537	V27I	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fsip2	G	A	2: 82,978,217	D1627N	probably benign	Het
Gcdh	A	G	8: 84,893,480		probably benign	Het
Kcna7	T	C	7: 45,408,945	F219L	probably benign	Het
Kdm3b	T	C	18: 34,808,296	L280S	probably benign	Het
Knl1	T	A	2: 119,102,579	V2073D	probably damaging	Het
Kprp	A	G	3: 92,825,039	S235P	unknown	Het
Lpp	A	G	16: 24,845,161	H396R	probably benign	Het
Lrch4	T	A	5: 137,637,730	D348E	probably damaging	Het
Mcm9	T	C	10: 53,625,952	N179S	probably benign	Het
Mettl13	T	C	1: 162,544,220	E360G	probably damaging	Het
Nfib	A	T	4: 82,323,699	S418R	probably damaging	Het
Olfr283	A	C	15: 98,378,582	I176S	probably benign	Het
Olfr690	A	G	7: 105,330,151	F14L	probably damaging	Het
Pcdha8	G	A	18: 36,993,688	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,302,825	F615L	probably damaging	Het
Pkd1l3	C	T	8: 109,632,539	T844I	probably damaging	Het
Pkhd1l1	A	T	15: 44,589,406	E3909V	probably damaging	Het
Poldip3	A	G	15: 83,131,475		probably benign	Het
Ptpn1	T	C	2: 167,974,223	I219T	probably damaging	Het
Rad18	T	C	6: 112,693,471	N44S	probably damaging	Het
Reep5	T	C	18: 34,372,474	Y48C	probably damaging	Het
Rundc3a	A	G	11: 102,399,259	I175V	possibly damaging	Het
Slamf1	C	T	1: 171,777,160	A166V	probably damaging	Het
Slc4a5	A	G	6: 83,288,303	D693G	probably benign	Het
Snap23	T	A	2: 120,586,245	C79S	probably damaging	Het
Spag6l	A	C	16: 16,763,020		probably null	Het
Trappc13	C	T	13: 104,168,560	D40N	probably benign	Het
Trav4-3	C	A	14: 53,599,139	S20R	probably benign	Het
Tssk2	G	A	16: 17,898,963	E77K	probably damaging	Het
Ubap2	A	G	4: 41,195,482	F1051S	probably damaging	Het
Ugt3a2	A	G	15: 9,367,412	T414A	probably benign	Het
Urod	C	T	4: 116,993,404	C66Y	probably damaging	Het
Vmn1r234	A	G	17: 21,229,009	K62E	probably damaging	Het
Wiz	A	G	17: 32,359,132	S460P	probably damaging	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zbtb7a	C	T	10: 81,144,266	T98M	probably damaging	Het
Zfp524	C	A	7: 5,017,885	H137Q	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
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'- AATCTCATCCTCCCGGTGAG -3'
(R):5'- CAAAGGTCAAGGTCTCACCG -3'

Sequencing Primer
(F):5'- TGAGTGGCCCTGTCTGAAC -3'
(R):5'- GTCAAGGTCTCACCGCATCTAG -3'

Posted On

2015-03-18