Mutagenetix > Incidental Mutation

Incidental Mutation 'R1742:Rgl2'

200464

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

039774-MU

Accession Numbers

Essential gene?

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

Stock #

R1742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

splice site (1687 bp from exon)

DNA Base Change (assembly)

T to A at 33937223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137072 (fasta)

Gene Model

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

AlphaFold

Q61193

Predicted Effect

probably null
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 benign
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 benign
Transcript: ENSMUST00000047503
AA Change: S762T

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: S762T

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

silent
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: 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: ENSMUST00000173718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173857

Predicted Effect

probably null
Transcript: ENSMUST00000174048

SMART Domains

Protein: ENSMUSP00000133656
Gene: ENSMUSG00000024309

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174442

Predicted Effect

probably null
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 null
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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,740,395		probably null	Het
Ankhd1	C	A	18: 36,625,265	A1004E	probably damaging	Het
Arfgef2	A	G	2: 166,866,980	S1071G	probably damaging	Het
Arhgef5	T	A	6: 43,280,199	I1228N	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bptf	A	G	11: 107,110,951	V445A	probably damaging	Het
Btf3	C	T	13: 98,316,296	M1I	probably null	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
Ccdc171	T	A	4: 83,681,284	S779T	probably damaging	Het
Ccdc54	T	C	16: 50,590,238	K222E	possibly damaging	Het
Cebpe	A	G	14: 54,711,600	V120A	probably benign	Het
Clhc1	T	A	11: 29,557,647		probably null	Het
Col22a1	C	T	15: 71,801,913	G985S	unknown	Het
Col6a3	T	A	1: 90,813,794	I639F	probably damaging	Het
Cryga	C	A	1: 65,103,121	V38L	probably benign	Het
Dll3	T	C	7: 28,294,423	T530A	probably benign	Het
Dnah7a	G	A	1: 53,456,684	P3205S	probably benign	Het
Dpp10	T	A	1: 123,445,206	Y224F	probably damaging	Het
Fcrls	T	C	3: 87,259,043	T142A	possibly damaging	Het
Fyttd1	C	T	16: 32,905,553	R175*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm11487	T	C	4: 73,401,210	D99G	probably damaging	Het
Gm8332	C	T	12: 88,249,683	D140N	unknown	Het
Gpr33	T	C	12: 52,024,262		probably null	Het
Gse1	T	A	8: 120,566,950	V205E	probably damaging	Het
Herc4	C	A	10: 63,287,949	N461K	probably benign	Het
Ifi206	G	A	1: 173,481,971	T153I	probably benign	Het
Iqca	T	C	1: 90,098,051	I341V	probably benign	Het
Itsn1	T	G	16: 91,816,959		probably null	Het
Kcnk5	T	A	14: 20,141,857	Y412F	probably benign	Het
Lemd1	T	A	1: 132,228,298	I26K	probably damaging	Het
Lipc	A	T	9: 70,820,529	L12Q	probably damaging	Het
Lrrtm1	C	A	6: 77,244,091	P177Q	probably damaging	Het
Mcph1	G	A	8: 18,607,363	G73R	probably benign	Het
Myh11	A	T	16: 14,220,044	L899Q	probably damaging	Het
Myo18a	G	T	11: 77,841,467	R822L	probably damaging	Het
Nav3	T	C	10: 109,769,213	T1000A	probably benign	Het
Nox4	T	C	7: 87,295,818	V94A	possibly damaging	Het
Olfr1115	T	A	2: 87,252,778	N280K	probably benign	Het
Olfr1230	G	T	2: 89,296,424	P282H	probably damaging	Het
Olfr850	A	G	9: 19,478,041	S67P	probably damaging	Het
Oxr1	T	C	15: 41,850,559	L679P	probably damaging	Het
Pcdhb17	T	C	18: 37,486,576	I473T	probably damaging	Het
Pgbd5	T	A	8: 124,380,307	E165D	probably damaging	Het
Pgpep1l	A	T	7: 68,237,054	V169D	probably damaging	Het
Phf12	C	T	11: 78,009,486	T136I	probably benign	Het
Pif1	T	A	9: 65,587,850	M14K	probably benign	Het
Pigr	A	G	1: 130,845,086	E347G	probably damaging	Het
Plekha3	G	A	2: 76,682,879	E103K	possibly damaging	Het
Ptgs2	A	G	1: 150,104,399	I363V	probably damaging	Het
Rasl11a	T	A	5: 146,846,995		probably null	Het
Recql	T	C	6: 142,364,572	T511A	probably damaging	Het
Rpp25l	T	C	4: 41,712,763	Y4C	probably damaging	Het
Sass6	T	G	3: 116,607,477	C156G	probably damaging	Het
Sgta	T	G	10: 81,046,277	N288T	probably damaging	Het
Slco1a4	T	A	6: 141,825,045	T282S	probably benign	Het
Smad4	T	C	18: 73,675,897	R100G	probably damaging	Het
Sox8	C	T	17: 25,567,941	V263M	probably damaging	Het
Sp8	A	G	12: 118,849,817	H469R	probably benign	Het
Spata1	A	T	3: 146,469,623		probably null	Het
Taar7a	G	A	10: 23,993,219	S88F	probably damaging	Het
Tnks2	T	C	19: 36,876,261	L749S	probably damaging	Het
Tollip	C	A	7: 141,892,855	R19L	probably damaging	Het
Tox2	G	A	2: 163,225,526	R55H	probably benign	Het
Vmn2r27	T	C	6: 124,200,677	E456G	possibly damaging	Het
Vmn2r77	T	A	7: 86,795,335	N65K	probably benign	Het
Vwf	T	C	6: 125,667,550	M2456T	probably benign	Het
Zfp526	A	G	7: 25,224,514	N66S	possibly damaging	Het
Zic1	T	C	9: 91,361,576	Y446C	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
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'- TCTTCTGAACCCACAGAGCTGACC -3'
(R):5'- ACCAGTACTCTTCCCAGCACAGATG -3'

Sequencing Primer
(F):5'- GAGCTGACCATCCCACACTC -3'
(R):5'- GTAAACAGGTGACTTCACTGTCC -3'

Posted On

2014-05-23