Mutagenetix > Incidental Mutation

Incidental Mutation 'R1777:Rgl2'

197176

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

039808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R1777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33931744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 59 (D59N)

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: D59N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: D59N

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: ENSMUST00000174676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174442

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	A	1: 16,078,589	D111V	possibly damaging	Het
Ap2a1	G	A	7: 44,904,152	T597M	probably damaging	Het
Arhgap25	A	G	6: 87,463,307	S364P	probably benign	Het
Atp6v1a	G	T	16: 44,114,705	Y40*	probably null	Het
Cdh1	T	A	8: 106,656,835	H235Q	probably damaging	Het
Cntln	A	G	4: 85,130,679	E1376G	probably benign	Het
Cntnap5b	T	A	1: 100,370,078	S781T	probably benign	Het
Cpne4	A	G	9: 104,872,688	T64A	probably damaging	Het
Ctsg	T	C	14: 56,100,601	Y179C	probably damaging	Het
Cx3cr1	A	G	9: 120,051,593	Y248H	probably damaging	Het
Dhx37	T	C	5: 125,429,931	E167G	probably benign	Het
Dnajc21	C	A	15: 10,449,607	A443S	probably benign	Het
Drd5	T	C	5: 38,320,161	S166P	probably damaging	Het
Dscaml1	T	C	9: 45,683,756	L719P	possibly damaging	Het
Eif2ak4	T	C	2: 118,430,839	I542T	probably damaging	Het
Ephb3	G	A	16: 21,217,235	G291E	probably damaging	Het
Eva1a	T	A	6: 82,092,156	Y155N	probably damaging	Het
Exog	C	T	9: 119,449,818	P189L	probably damaging	Het
Fam13b	A	G	18: 34,457,760	V455A	possibly damaging	Het
Fam192a	T	C	8: 94,588,811	E31G	probably damaging	Het
Fam35a	C	A	14: 34,268,173	V259L	probably benign	Het
Fmn2	C	A	1: 174,581,922	Q574K	unknown	Het
Gm10037	A	T	13: 67,833,865	R65S	probably benign	Het
Gm6871	A	T	7: 41,545,719	S531R	probably benign	Het
Golga2	T	A	2: 32,305,470		probably null	Het
Hydin	C	T	8: 110,589,571	P4365L	probably benign	Het
Ints8	A	T	4: 11,225,600		probably null	Het
Kbtbd12	A	C	6: 88,618,060	S263A	probably benign	Het
Kcng4	T	C	8: 119,633,487	D50G	probably benign	Het
Klhl18	A	T	9: 110,437,401	C217S	probably benign	Het
Klk1b4	A	G	7: 44,207,451		probably benign	Het
Klk7	G	A	7: 43,813,329	C186Y	probably damaging	Het
Krit1	T	C	5: 3,836,799	Y635H	probably damaging	Het
Lipo4	A	T	19: 33,499,321	D342E	probably damaging	Het
Lsm14b	T	G	2: 180,031,795	D199E	probably benign	Het
Map3k4	A	T	17: 12,271,730	N271K	possibly damaging	Het
Mast1	T	A	8: 84,912,068	N1544I	probably benign	Het
Megf6	T	A	4: 154,270,690	C1487*	probably null	Het
Mlh3	C	A	12: 85,268,754	K219N	possibly damaging	Het
Mtmr4	A	G	11: 87,602,830	K305E	probably damaging	Het
Myo15	A	G	11: 60,514,936	M3105V	probably benign	Het
Nbas	A	T	12: 13,513,562	I1958F	probably benign	Het
Nepro	A	T	16: 44,735,853	Q458L	probably damaging	Het
Olfr1309	T	A	2: 111,983,697	I126L	possibly damaging	Het
Olfr198	A	G	16: 59,202,016	S137P	probably benign	Het
Olfr295	T	A	7: 86,586,064	I263N	probably benign	Het
Olfr583	T	C	7: 103,051,376	I26T	probably benign	Het
Olfr741	T	A	14: 50,486,300	F281I	probably benign	Het
Olfr874	A	G	9: 37,746,311	Y59C	possibly damaging	Het
Opa3	T	C	7: 19,244,912	Y101H	probably damaging	Het
Pate3	T	C	9: 35,648,116	N2D	probably benign	Het
Pcdhb21	T	A	18: 37,515,718	D633E	possibly damaging	Het
Pgm1	C	T	5: 64,127,782	P589L	probably benign	Het
Pigg	T	A	5: 108,317,391	D163E	probably damaging	Het
Polq	A	G	16: 37,060,224	T638A	possibly damaging	Het
Prmt3	T	A	7: 49,798,346	M268K	possibly damaging	Het
Prmt9	T	C	8: 77,565,108	C370R	probably benign	Het
Prss57	A	T	10: 79,787,385	V76E	possibly damaging	Het
Pzp	T	C	6: 128,490,572	E1089G	possibly damaging	Het
Qars	T	A	9: 108,508,201		probably null	Het
Ralgapb	T	C	2: 158,462,195	Y625H	probably damaging	Het
Robo1	T	G	16: 73,004,667	W1060G	probably benign	Het
Scaper	A	T	9: 55,864,546	V362E	probably benign	Het
Schip1	T	C	3: 68,617,684	F131S	probably damaging	Het
Sh2b2	A	T	5: 136,227,422	V252D	probably damaging	Het
Slc17a6	A	T	7: 51,646,209	H199L	possibly damaging	Het
Slc29a1	A	G	17: 45,587,308	Y325H	probably damaging	Het
Slc29a4	G	T	5: 142,714,062	W156L	probably damaging	Het
Slc5a3	T	A	16: 92,077,756	S234T	probably benign	Het
Srd5a3	T	G	5: 76,149,783	V20G	probably damaging	Het
Stac	A	T	9: 111,604,082	S223T	possibly damaging	Het
Sytl2	A	T	7: 90,403,052	T766S	probably benign	Het
Tas2r102	A	G	6: 132,762,291	D54G	probably benign	Het
Tbpl1	A	G	10: 22,707,843	V105A	probably damaging	Het
Tenm3	G	T	8: 48,417,179	P193Q	probably benign	Het
Tes	G	A	6: 17,104,755	V403M	probably benign	Het
Tgfbr2	A	C	9: 116,109,880	I318S	probably damaging	Het
Tgfbr3	C	A	5: 107,136,930	V618L	probably benign	Het
Tmc1	C	T	19: 20,816,109		probably null	Het
Tmem132a	G	A	19: 10,858,506	H887Y	probably damaging	Het
Tmem43	C	A	6: 91,477,330	S33*	probably null	Het
Tob1	A	G	11: 94,213,754	K39E	probably damaging	Het
Unc79	T	A	12: 103,112,455	D1433E	probably damaging	Het
Usp25	T	C	16: 77,081,554	M622T	probably damaging	Het
Vmn1r158	A	T	7: 22,790,430	L118Q	probably damaging	Het
Vmn1r217	T	A	13: 23,114,325	I136L	probably benign	Het
Vmn2r15	A	T	5: 109,294,270	I99K	possibly damaging	Het
Vwa7	T	A	17: 35,024,948	V786E	probably damaging	Het
Xkr5	A	G	8: 18,939,132	F248S	probably benign	Het
Zcchc6	A	T	13: 59,791,821	H705Q	probably damaging	Het
Zzef1	A	T	11: 72,910,272	K2444M	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
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'- AAATTTGGGCTCCTCTGGTTCTGTC -3'
(R):5'- TGGAGAACATGGAGGGTGTCTCAC -3'

Sequencing Primer
(F):5'- GTTGAAACCCTCACTGCAACC -3'
(R):5'- CTGACTGCTAGACATCTGGGATAATC -3'

Posted On

2014-05-23