Mutagenetix > Incidental Mutation

Incidental Mutation 'R7513:Rgl2'

582260

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

Accession Numbers

Essential gene?

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

Stock #

R7513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33929543-33937687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33932555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 191 (R191Q)

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: R191Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: R191Q

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	A	7: 131,272,071	G1709R	unknown	Het
Abcb1a	G	A	5: 8,715,771	W694*	probably null	Het
Accs	T	C	2: 93,840,092	N256S	possibly damaging	Het
Agmo	C	T	12: 37,244,353	T100I	probably benign	Het
Alox8	T	C	11: 69,187,844	D341G	probably benign	Het
Apol7c	T	A	15: 77,525,711	E345V	possibly damaging	Het
Arl5a	A	G	2: 52,412,145	F86L	possibly damaging	Het
AU040320	A	G	4: 126,792,264	E211G	probably benign	Het
B020011L13Rik	T	A	1: 117,801,419	C219S	probably damaging	Het
Btaf1	T	A	19: 36,978,403	L579Q	probably benign	Het
Cd84	T	A	1: 171,884,618	V267E	probably benign	Het
Clec11a	T	C	7: 44,306,356	E89G	probably benign	Het
Csrnp2	C	A	15: 100,482,416	E331D	probably benign	Het
Cyp2d12	C	A	15: 82,558,420	H355N	probably benign	Het
D3Ertd254e	T	A	3: 36,164,643	F272I	possibly damaging	Het
Ddx24	C	A	12: 103,419,106	G413*	probably null	Het
Dhx38	G	A	8: 109,560,589	P249L	probably benign	Het
Dip2a	A	T	10: 76,313,235	M233K	probably benign	Het
Dip2b	T	A	15: 100,207,748		probably null	Het
Dmbt1	T	C	7: 131,090,512	S1003P	unknown	Het
Dna2	A	G	10: 62,971,968	D1033G	probably benign	Het
Dnah5	T	C	15: 28,370,415	S2834P	probably benign	Het
Dnah7b	T	G	1: 46,124,346	S437A	probably benign	Het
Eif5	A	T	12: 111,540,252	I93F	probably damaging	Het
Fbxo47	A	G	11: 97,856,229	F337S	probably damaging	Het
Gm8765	T	A	13: 50,702,873	I849N	probably benign	Het
Helz	T	C	11: 107,656,115	I1086T	probably damaging	Het
Ifi208	A	T	1: 173,695,654	R497*	probably null	Het
Igfn1	T	G	1: 135,959,967	D2453A	probably damaging	Het
Ighg2c	A	T	12: 113,288,851	L27Q		Het
Jak1	C	T	4: 101,191,651	C10Y	probably damaging	Het
Kif7	T	A	7: 79,711,028	N200Y	possibly damaging	Het
Ktn1	G	C	14: 47,664,084	A100P	possibly damaging	Het
Lrsam1	T	C	2: 32,953,485	D136G	probably benign	Het
Man2c1	T	C	9: 57,139,399	L648P	probably benign	Het
Mki67	T	C	7: 135,693,223	I3116V	probably benign	Het
Mmp10	A	T	9: 7,508,127	D418V	probably damaging	Het
Mrpl24	A	T	3: 87,922,427	T107S	probably benign	Het
Mycbpap	T	A	11: 94,503,556	D296V	probably damaging	Het
Mycn	C	A	12: 12,939,742	A218S	probably benign	Het
Myo1f	G	T	17: 33,575,814	W9C	probably damaging	Het
Nckap1	T	A	2: 80,502,291	K1074N	possibly damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nhsl1	T	C	10: 18,523,952	S275P	probably damaging	Het
Olfr180	T	A	16: 58,915,932	K236N	probably damaging	Het
Olfr709-ps1	A	G	7: 106,927,276	F61S	possibly damaging	Het
Pam	G	A	1: 97,853,185	P514S	possibly damaging	Het
Pcdha4	C	T	18: 36,953,339	L192F	probably damaging	Het
Per1	T	A	11: 69,105,571	D800E	probably benign	Het
Plcg2	C	A	8: 117,579,853	N315K	probably damaging	Het
Plxnb2	T	A	15: 89,158,322		probably null	Het
Pnpla1	A	G	17: 28,858,807		probably benign	Het
Pptc7	A	T	5: 122,308,129		probably null	Het
Psg26	G	T	7: 18,475,300	S394R	probably benign	Het
Psmc1	C	A	12: 100,115,514	T125K	probably benign	Het
Ptgis	T	A	2: 167,225,283	M125L	probably benign	Het
Rbms1	A	G	2: 60,758,821	Y323H	probably damaging	Het
Sirpb1a	G	A	3: 15,411,443	T98I	possibly damaging	Het
Sirpb1b	C	A	3: 15,542,140	E361*	probably null	Het
Slc13a4	A	T	6: 35,283,337		probably null	Het
Spag9	T	C	11: 94,112,083	S1140P	probably damaging	Het
Tas2r137	A	G	6: 40,492,150	N305D	probably damaging	Het
Tenm2	G	A	11: 36,051,900	A1314V	probably benign	Het
Tgm3	A	G	2: 130,024,404	T81A	probably benign	Het
Timeless	T	C	10: 128,249,530	V839A	probably damaging	Het
Tmem132a	A	G	19: 10,860,128	I606T	probably damaging	Het
Tox	T	A	4: 6,741,507	M158L	probably benign	Het
Trpc2	A	T	7: 102,090,068	M549L	probably damaging	Het
Trpm5	C	T	7: 143,081,835	R600Q	possibly damaging	Het
Trpv1	A	G	11: 73,240,541	N302D	probably damaging	Het
Ttn	C	T	2: 76,851,596	R1019H		Het
Ttn	G	T	2: 76,944,963	H1958N	unknown	Het
Usp32	A	T	11: 85,027,112	Y769*	probably null	Het
Vim	A	T	2: 13,578,632	Q255L	possibly damaging	Het
Vmn1r84	T	C	7: 12,362,067	H233R	probably benign	Het
Xirp2	T	A	2: 67,510,764	H1116Q	possibly damaging	Het
Zc3h18	G	T	8: 122,408,254	R580L	unknown	Het
Zfp442	A	T	2: 150,408,756	C409S	unknown	Het
Zfy1	A	T	Y: 759,852	I20K	unknown	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
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
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'- TGAATCTCATCCTCCCGGTG -3'
(R):5'- TCTAGCAGGGTCAGCTGTTC -3'

Sequencing Primer
(F):5'- TGAGTGGCCCTGTCTGAAC -3'
(R):5'- TCAGCTGTTCGGCCAAGTG -3'

Posted On

2019-10-17