Mutagenetix > Incidental Mutation

Incidental Mutation 'R4922:Rgl2'

378727

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

042524-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R4922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 33932775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q61193

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

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354

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: ENSMUST00000174676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174410

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	A	G	16: 13,986,819	H10R	possibly damaging	Het
4932438A13Rik	T	A	3: 36,987,165	I2564K	probably damaging	Het
5830473C10Rik	A	G	5: 90,579,711	H396R	possibly damaging	Het
Adgrb2	G	T	4: 130,007,852	C423F	probably damaging	Het
Akap11	A	T	14: 78,512,780	Y722*	probably null	Het
Anxa3	A	T	5: 96,820,429	I114F	probably damaging	Het
Arfgef3	T	A	10: 18,592,186	R1755S	probably damaging	Het
Atf7ip	A	T	6: 136,560,041	T91S	possibly damaging	Het
B020004J07Rik	T	A	4: 101,835,532	M424L	probably benign	Het
Bcl2	C	A	1: 106,712,646	A79S	probably benign	Het
Bmp10	C	T	6: 87,433,575	P117S	probably benign	Het
Bmpr2	A	G	1: 59,867,424	T559A	probably benign	Het
Cd200r1	A	T	16: 44,789,676	Y86F	probably damaging	Het
Cemip	T	A	7: 83,947,100		probably benign	Het
Cfap52	A	G	11: 67,931,722		probably null	Het
Chml	T	C	1: 175,687,146	H60R	possibly damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 25,291,670		probably benign	Het
Clec12a	A	G	6: 129,359,478	Y201C	probably damaging	Het
Col15a1	T	C	4: 47,258,719	V370A	probably benign	Het
Cpsf3	T	C	12: 21,301,537	I353T	probably damaging	Het
Csf2rb	T	A	15: 78,346,467	V470E	probably benign	Het
Cyp4a10	C	A	4: 115,521,094	Q126K	probably benign	Het
Dennd1b	T	C	1: 139,085,914	S249P	probably damaging	Het
Dnase2a	A	G	8: 84,908,996		probably null	Het
Dpp10	T	C	1: 123,378,153	N490S	probably benign	Het
Enc1	C	T	13: 97,245,735	A251V	probably benign	Het
Fancd2	T	C	6: 113,585,473	V1258A	probably benign	Het
Fancm	G	A	12: 65,106,892		probably null	Het
Fbxo16	C	T	14: 65,299,208	T177I	probably benign	Het
Gm10471	A	T	5: 26,084,793	I212N	probably damaging	Het
Gm1965	T	C	6: 89,146,543		noncoding transcript	Het
Gm6768	A	G	12: 119,262,517		noncoding transcript	Het
Hal	A	T	10: 93,503,539	M497L	probably damaging	Het
Hectd4	T	C	5: 121,359,315	L3936S	possibly damaging	Het
Hs3st4	G	T	7: 124,397,187	G359W	probably damaging	Het
Il6st	C	T	13: 112,502,865	P608L	probably damaging	Het
Kctd18	A	C	1: 57,965,548		probably benign	Het
Kntc1	T	A	5: 123,802,246	S1636T	probably damaging	Het
Lrrn1	A	T	6: 107,568,350	S370C	probably damaging	Het
Mtcl1	A	C	17: 66,348,479	C968G	probably benign	Het
Mylip	G	A	13: 45,408,762	A347T	probably damaging	Het
Naip2	T	C	13: 100,154,960	S1157G	probably benign	Het
Neu4	T	A	1: 94,022,478	V53E	probably damaging	Het
Nxpe3	T	C	16: 55,860,324	I302V	probably benign	Het
Olfr1229	A	T	2: 89,282,467	L243Q	possibly damaging	Het
Olfr266	A	T	3: 106,822,260	C100S	probably damaging	Het
Otos	T	C	1: 92,644,368	T79A	probably damaging	Het
Pde4a	T	C	9: 21,210,713	I578T	probably damaging	Het
Prex2	C	T	1: 11,169,940	P927S	probably damaging	Het
Prrxl1	A	T	14: 32,608,406	N160I	probably damaging	Het
Prune2	A	T	19: 17,122,752	K1873N	probably benign	Het
Ptk7	C	A	17: 46,576,491		probably null	Het
Reln	T	A	5: 21,995,587		probably null	Het
Rnf145	T	A	11: 44,557,236		probably benign	Het
Ryr2	T	C	13: 11,709,963	E2488G	probably damaging	Het
Sgo2b	A	T	8: 63,926,630	M1056K	possibly damaging	Het
Snapc4	A	G	2: 26,369,233	V635A	probably benign	Het
Snx19	T	A	9: 30,437,467	Y101N	probably benign	Het
Sorl1	C	A	9: 42,014,450		probably null	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Tmem30b	G	A	12: 73,545,714	P209L	probably damaging	Het
Trbv12-2	G	T	6: 41,119,147	C52F	probably damaging	Het
Tsc2	T	A	17: 24,600,369	D1304V	probably benign	Het
Ugt2b36	T	C	5: 87,066,324	Y487C	probably damaging	Het
Vmn1r10	T	A	6: 57,113,826	N134K	probably damaging	Het
Wdr27	C	A	17: 14,920,754		probably null	Het
Wdr66	T	C	5: 123,256,053	V335A	probably benign	Het
Wdr75	T	C	1: 45,816,478	F430L	probably damaging	Het
Zfp629	A	G	7: 127,612,127	I170T	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
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'- CTTGCTTCGGACAGGGTATG -3'
(R):5'- GATCTGAGGCTCTTAAGTGGCC -3'

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

Posted On

2016-04-15