Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Rgl2'

40050

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

038656-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 33936849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025163] [ENSMUST00000025170] [ENSMUST00000047503] [ENSMUST00000173363] [ENSMUST00000174426] [ENSMUST00000174048] [ENSMUST00000179418]

AlphaFold

Q61193

Predicted Effect

probably benign
Transcript: ENSMUST00000025163

SMART Domains

Protein: ENSMUSP00000025163
Gene: ENSMUSG00000024309

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	10	115	9.6e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000025170

SMART Domains

Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312

Domain	Start	End	E-Value	Type
coiled coil region	126	155	N/A	INTRINSIC
low complexity region	204	217	N/A	INTRINSIC
WD40	225	262	1.02e2	SMART
WD40	267	302	3.3e1	SMART
Blast:WD40	305	344	8e-19	BLAST
WD40	347	386	9.52e-6	SMART
Blast:WD40	392	426	3e-14	BLAST
BING4CT	439	517	8.85e-53	SMART
low complexity region	542	556	N/A	INTRINSIC
low complexity region	586	593	N/A	INTRINSIC

Predicted Effect

probably null
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: ENSMUST00000172546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173266

Predicted Effect

probably null
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

probably null
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

probably benign
Transcript: ENSMUST00000173363

SMART Domains

Protein: ENSMUSP00000138662
Gene: ENSMUSG00000024309

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	1	89	1.1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174676

Predicted Effect

probably benign
Transcript: ENSMUST00000174426

SMART Domains

Protein: ENSMUSP00000134069
Gene: ENSMUSG00000024309

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	1	89	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174048

SMART Domains

Protein: ENSMUSP00000133656
Gene: ENSMUSG00000024309

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	10	115	2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179418

SMART Domains

Protein: ENSMUSP00000137072
Gene: ENSMUSG00000024309

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	10	115	2e-28	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,295,979	P11L	probably damaging	Het
Antxr1	A	C	6: 87,217,275	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,232,740	N1127D	probably benign	Het
Bivm	T	A	1: 44,126,809	W140R	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,760,851	V928A	possibly damaging	Het
Chia1	T	C	3: 106,128,479	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,176,478	I268F	probably damaging	Het
CK137956	A	T	4: 127,945,307	N439K	probably damaging	Het
Csf3r	C	A	4: 126,035,861	N392K	probably damaging	Het
Cyp1b1	T	C	17: 79,710,275	I484V	probably benign	Het
Dsc1	T	C	18: 20,099,112	K280E	probably damaging	Het
Eefsec	A	G	6: 88,297,888	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843		probably null	Het
Erap1	G	A	13: 74,664,220	V385I	probably benign	Het
Fat1	A	T	8: 45,029,534	I3077F	probably damaging	Het
Fras1	G	T	5: 96,554,788	G230C	probably damaging	Het
Fras1	T	G	5: 96,714,343		probably null	Het
Gsg1l	A	G	7: 125,923,510	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,158,322	V60A	probably damaging	Het
Hapln4	A	T	8: 70,084,995	Y113F	probably benign	Het
Hist1h4f	T	C	13: 23,551,387	D86G	probably damaging	Het
Ikzf4	T	A	10: 128,635,808	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,735,726	H302L	probably damaging	Het
Klhl41	T	C	2: 69,670,549	V118A	probably damaging	Het
Kpna1	T	C	16: 36,002,900	S41P	possibly damaging	Het
Krt23	A	G	11: 99,486,778	V134A	probably benign	Het
Lamb1	G	A	12: 31,304,730	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,731,778	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,104	S171P	probably damaging	Het
Lvrn	G	A	18: 46,864,816		probably null	Het
Matr3	T	A	18: 35,572,864	F281I	probably damaging	Het
Nxn	G	A	11: 76,263,137	Q291*	probably null	Het
Olfr1467	A	G	19: 13,364,738	T37A	probably damaging	Het
Pdp2	G	T	8: 104,593,789	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,733,891	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,522,579	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,389,793		probably null	Het
Ptpro	G	T	6: 137,414,230	V783L	probably benign	Het
Rab40c	A	G	17: 25,884,657	V144A	possibly damaging	Het
Rasal2	T	C	1: 157,149,843	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,647,523	S103C	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rit2	A	T	18: 30,975,451	F160L	probably benign	Het
Rnh1	A	G	7: 141,162,548	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,791,466	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,259,656	I505F	probably benign	Het
Sorcs3	A	T	19: 48,654,044	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,578,634	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,381,855	S456T	probably benign	Het
Syne1	T	C	10: 5,342,252	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,803,391	N164S	probably benign	Het
Tigd3	A	G	19: 5,892,793	L103P	probably damaging	Het
Tldc1	A	T	8: 119,768,423	F199I	probably damaging	Het
Tmem132b	T	C	5: 125,787,724	S965P	probably damaging	Het
Tmem82	T	C	4: 141,617,390	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,038,091	E198G	probably benign	Het
Tnpo2	A	G	8: 85,054,416	N767S	probably damaging	Het
Trf	T	C	9: 103,226,903	Y87C	probably damaging	Het
Tst	A	G	15: 78,405,580	V85A	probably damaging	Het
Usp37	A	T	1: 74,468,348	N503K	probably damaging	Het
Utp20	C	T	10: 88,754,573	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,711,406	D37G	probably benign	Het
Vmn1r77	T	A	7: 12,041,738	L79*	probably null	Het
Zbtb3	A	T	19: 8,803,200	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,808,854	F182S	probably benign	Het
Zfp426	A	G	9: 20,470,297	F465L	probably damaging	Het
Zfp526	A	G	7: 25,226,212	E632G	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
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'- ACTGGCAGCCACTATATTGGGTTTC -3'
(R):5'- TCAGCTCTGTGGGTTCAGAAGAGG -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- GATTAGCGTTCGGCCCTC -3'

Posted On

2013-05-23