Mutagenetix > Incidental Mutation

Incidental Mutation 'R5337:Rgl2'

423597

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

042917-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5337 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33934984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 455 (I455F)

Ref Sequence

ENSEMBL: ENSMUSP00000041082 (fasta)

Gene Model

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

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: 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 damaging
Transcript: ENSMUST00000047503
AA Change: I455F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: I455F

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: ENSMUST00000173153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173266

Predicted Effect

unknown
Transcript: ENSMUST00000173284
AA Change: I19F

SMART Domains

Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354
AA Change: I19F

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: ENSMUST00000173718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174410

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

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

Meta Mutation Damage Score

0.7716

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	A	9: 50,765,749	C14F	probably benign	Het
2610507B11Rik	T	A	11: 78,265,208	I182N	possibly damaging	Het
Abhd15	T	A	11: 77,518,839		probably null	Het
Akap8l	A	G	17: 32,336,394	M237T	possibly damaging	Het
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Api5	G	T	2: 94,425,688	A218E	possibly damaging	Het
BC067074	T	A	13: 113,318,765	H448Q	probably damaging	Het
Cftr	A	G	6: 18,319,059	D1336G	probably damaging	Het
Chd1l	G	A	3: 97,562,616	R865W	probably damaging	Het
Cmya5	T	C	13: 93,083,273	K3223E	probably benign	Het
Cuzd1	A	G	7: 131,316,074	Y266H	probably damaging	Het
Dnajc5b	A	T	3: 19,574,782	Y80F	probably damaging	Het
Dock6	A	G	9: 21,829,548	S915P	possibly damaging	Het
Fam166b	C	T	4: 43,427,687		probably null	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fat4	A	G	3: 39,010,378	T4828A	probably benign	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gja3	T	G	14: 57,035,832	D361A	probably benign	Het
Gpr155	T	C	2: 73,348,248	E704G	probably benign	Het
Greb1l	A	G	18: 10,509,143	E485G	probably damaging	Het
Grik1	CGG	CGGG	16: 87,923,194		probably null	Het
H6pd	A	G	4: 149,981,784	V715A	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnip1	T	G	11: 33,642,389		probably benign	Het
Kif21b	T	C	1: 136,171,143	S1390P	probably damaging	Het
Lrrc61	G	A	6: 48,568,374	V44M	probably damaging	Het
Map3k4	G	T	17: 12,271,610	N311K	probably damaging	Het
Mgat5	T	C	1: 127,459,921	F538S	possibly damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Ndst1	A	T	18: 60,690,007	L829Q	probably damaging	Het
Neto1	A	T	18: 86,398,309	H47L	probably benign	Het
Olfr1333	T	C	4: 118,829,666	Y258C	probably benign	Het
Olfr485	A	T	7: 108,159,273	V200D	probably benign	Het
Olfr550	T	C	7: 102,579,274	S260P	probably damaging	Het
Olfr807	A	T	10: 129,754,534	C305*	probably null	Het
Olfr9	A	G	10: 128,990,679	T256A	probably benign	Het
Pds5b	T	C	5: 150,793,597	F1120L	probably benign	Het
Phkb	A	G	8: 85,878,245	Y93C	probably damaging	Het
Pilra	C	T	5: 137,835,770		probably benign	Het
Pmvk	T	C	3: 89,468,571	V146A	probably benign	Het
Proz	T	A	8: 13,066,854	D135E	probably benign	Het
Psg23	A	T	7: 18,612,072	W233R	probably benign	Het
Rhpn1	A	G	15: 75,708,205	Q39R	probably benign	Het
Rims4	T	G	2: 163,865,843	M100L	probably benign	Het
Sacs	T	A	14: 61,193,514		probably benign	Het
Slfn4	T	C	11: 83,189,229	F189L	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tmem127	T	C	2: 127,256,145	Y129H	probably damaging	Het
Trim50	C	T	5: 135,367,476	T426M	probably damaging	Het
Trpc3	A	T	3: 36,638,370		probably benign	Het
Tsga10ip	A	T	19: 5,394,335	S23T	probably benign	Het
Uspl1	T	C	5: 149,214,746	S720P	probably damaging	Het
Zc3h18	A	G	8: 122,386,902	D211G	probably damaging	Het
Zcchc6	G	A	13: 59,791,852	T695I	probably damaging	Het
Zswim4	G	A	8: 84,235,079	P55L	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
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'- CTGAGTGTCAAGTGGAGCTG -3'
(R):5'- ACATTCTTTCTGGAGGCGC -3'

Sequencing Primer
(F):5'- GCTACACAGTGAGTCCCAGTCTC -3'
(R):5'- CATTCTTTCTGGAGGCGCAACAG -3'

Posted On

2016-08-04