Mutagenetix > Incidental Mutation

Incidental Mutation 'R7196:Rgl2'

559975

Institutional Source

Beutler Lab

Gene Symbol

Rgl2

Ensembl Gene

ENSMUSG00000041354

Gene Name

ral guanine nucleotide dissociation stimulator-like 2

Synonyms

Rlf, Rgt2, Rab2l, KE1.5

MMRRC Submission

045275-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R7196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34148813-34156661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34152403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 367 (R367W)

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 damaging
Transcript: ENSMUST00000047503
AA Change: R367W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: R367W

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: 98.5%

Validation Efficiency

99% (94/95)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
4921504E06Rik	A	C	2: 19,498,806 (GRCm39)	S396A	probably benign	Het
Actr6	C	A	10: 89,550,784 (GRCm39)	V337F	possibly damaging	Het
Agtpbp1	T	C	13: 59,680,994 (GRCm39)	T73A	possibly damaging	Het
AI182371	A	T	2: 34,976,441 (GRCm39)		probably null	Het
Apob	A	G	12: 8,033,893 (GRCm39)	E202G	possibly damaging	Het
Asb4	A	T	6: 5,423,356 (GRCm39)	M168L	probably benign	Het
AU018091	T	C	7: 3,213,788 (GRCm39)	Y152C	probably damaging	Het
Casp3	G	A	8: 47,088,498 (GRCm39)	G132R	possibly damaging	Het
Cbfa2t3	C	A	8: 123,365,729 (GRCm39)	A229S	probably benign	Het
Cdh23	A	T	10: 60,143,759 (GRCm39)	Y2949N	probably damaging	Het
Ceacam3	T	C	7: 16,888,881 (GRCm39)	Y217H		Het
Cldn5	A	T	16: 18,595,630 (GRCm39)		probably benign	Het
Cltc	T	C	11: 86,597,657 (GRCm39)	D1093G	probably damaging	Het
Cnn3	G	A	3: 121,248,437 (GRCm39)		probably null	Het
Col4a2	A	G	8: 11,448,693 (GRCm39)	Y71C	probably damaging	Het
Csf1	T	C	3: 107,661,214 (GRCm39)	D77G	possibly damaging	Het
Cyp2j7	T	A	4: 96,103,651 (GRCm39)	T295S	probably benign	Het
Dnah7a	A	T	1: 53,724,000 (GRCm39)	M133K	probably benign	Het
Dock5	G	A	14: 67,993,919 (GRCm39)	P1852L	probably damaging	Het
Dpysl3	T	A	18: 43,462,910 (GRCm39)	D489V	probably damaging	Het
Dsg4	T	C	18: 20,599,537 (GRCm39)	Y718H	probably damaging	Het
Dync2h1	G	A	9: 7,147,715 (GRCm39)	Q972*	probably null	Het
Epn1	G	A	7: 5,096,380 (GRCm39)	D225N	possibly damaging	Het
Esp4	A	G	17: 40,913,256 (GRCm39)	E41G	probably benign	Het
Fam171a2	T	C	11: 102,329,172 (GRCm39)	D529G	probably benign	Het
Fbxl13	A	T	5: 21,691,301 (GRCm39)	I694N	probably damaging	Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Galnt3	A	G	2: 65,921,268 (GRCm39)	Y533H	probably damaging	Het
Gja5	C	A	3: 96,958,422 (GRCm39)	R160S	probably damaging	Het
Gm12353	A	T	4: 19,608,938 (GRCm39)	D7V	unknown	Het
Gm17669	T	C	18: 67,695,572 (GRCm39)	F39S	probably damaging	Het
Gm7145	T	A	1: 117,913,791 (GRCm39)	N224K	possibly damaging	Het
Gpd1	G	T	15: 99,619,936 (GRCm39)	G245C	probably benign	Het
Gpr4	G	A	7: 18,957,089 (GRCm39)	G337D	probably benign	Het
Hgd	G	A	16: 37,409,078 (GRCm39)	C14Y	probably benign	Het
Ibtk	A	T	9: 85,625,709 (GRCm39)	S14T	probably damaging	Het
Ifi205	G	T	1: 173,854,109 (GRCm39)	N181K	probably damaging	Het
Inppl1	G	A	7: 101,477,993 (GRCm39)	A673V	probably benign	Het
Itgb3	C	A	11: 104,524,438 (GRCm39)	Y191*	probably null	Het
Jrkl	G	T	9: 13,244,162 (GRCm39)	P500T	probably benign	Het
Kcnq1	G	A	7: 142,912,478 (GRCm39)	V515I	possibly damaging	Het
Kifc3	A	G	8: 95,833,239 (GRCm39)	V453A	probably benign	Het
Krt10	C	T	11: 99,278,371 (GRCm39)	E263K	probably damaging	Het
Lingo1	A	T	9: 56,527,903 (GRCm39)	F235I	probably damaging	Het
Lmo7	T	A	14: 102,133,936 (GRCm39)	D660E	possibly damaging	Het
Magi3	A	C	3: 103,956,484 (GRCm39)	C661W	probably benign	Het
Mmp1a	C	T	9: 7,476,018 (GRCm39)	Q428*	probably null	Het
Msrb1	A	T	17: 24,958,556 (GRCm39)	T47S	probably benign	Het
Naip6	A	T	13: 100,436,666 (GRCm39)	I619K	probably benign	Het
Ndfip2	T	C	14: 105,535,472 (GRCm39)	S253P	probably damaging	Het
Nebl	A	T	2: 17,457,329 (GRCm39)	V77E	probably damaging	Het
Nit1	T	C	1: 171,172,003 (GRCm39)	E65G	probably benign	Het
Ntn4	C	T	10: 93,569,576 (GRCm39)	H430Y	probably benign	Het
Nxpe5	A	T	5: 138,237,586 (GRCm39)	I49F	probably benign	Het
Or10a2	A	G	7: 106,673,935 (GRCm39)	N300S	probably benign	Het
Or10c1	A	G	17: 37,522,084 (GRCm39)	I220T	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Or1e23	A	G	11: 73,407,957 (GRCm39)	Y23H	probably benign	Het
Or1m1	A	T	9: 18,666,886 (GRCm39)	L15*	probably null	Het
Or4k49	T	G	2: 111,495,042 (GRCm39)	L157W	probably damaging	Het
Or52s6	A	T	7: 103,092,204 (GRCm39)	M42K	probably benign	Het
Or7e178	A	G	9: 20,225,494 (GRCm39)	Y241H	probably benign	Het
Oxct2a	T	A	4: 123,217,165 (GRCm39)	N72I	probably damaging	Het
Pappa	G	A	4: 65,242,128 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 82,042,312 (GRCm39)	R34H	possibly damaging	Het
Plekha5	G	T	6: 140,489,648 (GRCm39)	V236L	possibly damaging	Het
Prdm1	A	G	10: 44,332,988 (GRCm39)	S44P	probably benign	Het
Prss46	T	A	9: 110,680,533 (GRCm39)	L226Q	probably benign	Het
Prss47	C	A	13: 65,192,640 (GRCm39)	W380C	probably benign	Het
Ptch2	T	G	4: 116,971,946 (GRCm39)	V1156G	probably benign	Het
Rab3gap2	T	C	1: 185,013,864 (GRCm39)	F1190S	probably damaging	Het
Raver2	T	G	4: 100,960,056 (GRCm39)	Y179D	probably damaging	Het
Ripor2	T	G	13: 24,888,808 (GRCm39)	I629S	possibly damaging	Het
Robo4	T	A	9: 37,314,001 (GRCm39)	M84K	possibly damaging	Het
Rps6ka5	A	T	12: 100,562,123 (GRCm39)	S252T	possibly damaging	Het
Rtl1	C	T	12: 109,559,221 (GRCm39)	V873M	possibly damaging	Het
Sla	T	A	15: 66,703,420 (GRCm39)	R4W	probably benign	Het
Smco1	A	G	16: 32,092,620 (GRCm39)	D97G	probably damaging	Het
Srgap1	T	C	10: 121,676,753 (GRCm39)	T414A	probably benign	Het
Syt14	A	G	1: 192,717,936 (GRCm39)	I3T	probably benign	Het
Tnpo2	G	A	8: 85,773,766 (GRCm39)	V303M	possibly damaging	Het
Tstd2	A	C	4: 46,119,955 (GRCm39)	S332R	probably damaging	Het
Ttn	C	A	2: 76,582,386 (GRCm39)	A22836S	possibly damaging	Het
Ufl1	A	G	4: 25,250,669 (GRCm39)	V728A	probably benign	Het
Usp33	A	T	3: 152,089,828 (GRCm39)	K789N	possibly damaging	Het
Usp54	T	A	14: 20,638,438 (GRCm39)	Q214L	probably damaging	Het
Vmn2r7	T	G	3: 64,623,198 (GRCm39)	N374T	probably benign	Het
Zbtb7a	T	A	10: 80,980,434 (GRCm39)	N209K	probably damaging	Het
Zc3hav1	A	G	6: 38,306,207 (GRCm39)	V615A	probably benign	Het
Zdhhc20	A	G	14: 58,111,348 (GRCm39)		probably null	Het
Zfp90	G	T	8: 107,151,780 (GRCm39)	V498L	probably damaging	Het

Other mutations in Rgl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Rgl2	APN	17	34,152,110 (GRCm39)	missense	probably benign	0.31
IGL00898:Rgl2	APN	17	34,152,392 (GRCm39)	missense	possibly damaging	0.95
IGL00965:Rgl2	APN	17	34,154,910 (GRCm39)	missense	probably benign	0.00
IGL00985:Rgl2	APN	17	34,151,075 (GRCm39)	missense	probably damaging	1.00
IGL02140:Rgl2	APN	17	34,152,098 (GRCm39)	missense	probably damaging	1.00
IGL02214:Rgl2	APN	17	34,154,163 (GRCm39)	missense	probably benign	0.06
IGL02486:Rgl2	APN	17	34,154,954 (GRCm39)	missense	probably damaging	0.97
IGL02579:Rgl2	APN	17	34,156,134 (GRCm39)	missense	probably benign	0.08
IGL02976:Rgl2	APN	17	34,152,936 (GRCm39)	missense	possibly damaging	0.95
Hypotenuse	UTSW	17	34,150,713 (GRCm39)	missense	probably benign	0.00
Pedernales	UTSW	17	34,151,012 (GRCm39)	critical splice acceptor site	probably null
PIT4354001:Rgl2	UTSW	17	34,152,914 (GRCm39)	missense	possibly damaging	0.80
R0347:Rgl2	UTSW	17	34,151,712 (GRCm39)	missense	probably damaging	1.00
R0456:Rgl2	UTSW	17	34,155,823 (GRCm39)	splice site	probably null
R0825:Rgl2	UTSW	17	34,154,133 (GRCm39)	splice site	probably null
R1742:Rgl2	UTSW	17	34,156,197 (GRCm39)	splice site	probably null
R1777:Rgl2	UTSW	17	34,150,718 (GRCm39)	missense	probably benign	0.00
R1829:Rgl2	UTSW	17	34,152,595 (GRCm39)	missense	probably benign	0.00
R1908:Rgl2	UTSW	17	34,151,122 (GRCm39)	missense	probably benign	0.00
R1961:Rgl2	UTSW	17	34,152,589 (GRCm39)	missense	probably damaging	1.00
R2102:Rgl2	UTSW	17	34,152,314 (GRCm39)	splice site	probably null
R3001:Rgl2	UTSW	17	34,151,579 (GRCm39)	missense	probably benign	0.00
R3002:Rgl2	UTSW	17	34,151,579 (GRCm39)	missense	probably benign	0.00
R3755:Rgl2	UTSW	17	34,151,571 (GRCm39)	missense	probably benign	0.01
R3756:Rgl2	UTSW	17	34,151,571 (GRCm39)	missense	probably benign	0.01
R3978:Rgl2	UTSW	17	34,154,136 (GRCm39)	missense	probably benign	0.02
R4042:Rgl2	UTSW	17	34,156,236 (GRCm39)	missense	probably damaging	1.00
R4064:Rgl2	UTSW	17	34,156,082 (GRCm39)	missense	possibly damaging	0.77
R4204:Rgl2	UTSW	17	34,155,906 (GRCm39)	missense	probably benign	0.04
R4661:Rgl2	UTSW	17	34,152,200 (GRCm39)	missense	possibly damaging	0.77
R4852:Rgl2	UTSW	17	34,156,147 (GRCm39)	missense	probably benign	0.00
R4922:Rgl2	UTSW	17	34,151,749 (GRCm39)	unclassified	probably benign
R5119:Rgl2	UTSW	17	34,156,094 (GRCm39)	missense	probably benign	0.00
R5167:Rgl2	UTSW	17	34,154,948 (GRCm39)	nonsense	probably null
R5279:Rgl2	UTSW	17	34,154,922 (GRCm39)	missense	probably benign
R5319:Rgl2	UTSW	17	34,152,529 (GRCm39)	missense	probably benign	0.02
R5337:Rgl2	UTSW	17	34,153,958 (GRCm39)	missense	probably damaging	0.99
R5881:Rgl2	UTSW	17	34,151,691 (GRCm39)	missense	probably benign	0.01
R5945:Rgl2	UTSW	17	34,151,012 (GRCm39)	critical splice acceptor site	probably null
R6165:Rgl2	UTSW	17	34,150,739 (GRCm39)	missense	probably benign	0.01
R6358:Rgl2	UTSW	17	34,156,105 (GRCm39)	splice site	probably null
R6867:Rgl2	UTSW	17	34,151,661 (GRCm39)	missense	probably benign	0.09
R7174:Rgl2	UTSW	17	34,153,964 (GRCm39)	missense	possibly damaging	0.93
R7182:Rgl2	UTSW	17	34,153,964 (GRCm39)	missense	possibly damaging	0.93
R7183:Rgl2	UTSW	17	34,153,964 (GRCm39)	missense	possibly damaging	0.93
R7184:Rgl2	UTSW	17	34,153,964 (GRCm39)	missense	possibly damaging	0.93
R7203:Rgl2	UTSW	17	34,152,403 (GRCm39)	missense	probably damaging	1.00
R7250:Rgl2	UTSW	17	34,152,403 (GRCm39)	missense	probably damaging	1.00
R7253:Rgl2	UTSW	17	34,153,964 (GRCm39)	missense	possibly damaging	0.93
R7254:Rgl2	UTSW	17	34,153,964 (GRCm39)	missense	possibly damaging	0.93
R7255:Rgl2	UTSW	17	34,153,964 (GRCm39)	missense	possibly damaging	0.93
R7256:Rgl2	UTSW	17	34,153,964 (GRCm39)	missense	possibly damaging	0.93
R7282:Rgl2	UTSW	17	34,152,403 (GRCm39)	missense	probably damaging	1.00
R7455:Rgl2	UTSW	17	34,151,657 (GRCm39)	missense	probably benign	0.32
R7513:Rgl2	UTSW	17	34,151,529 (GRCm39)	missense	probably benign
R7752:Rgl2	UTSW	17	34,154,799 (GRCm39)	missense	possibly damaging	0.82
R7901:Rgl2	UTSW	17	34,154,799 (GRCm39)	missense	possibly damaging	0.82
R7941:Rgl2	UTSW	17	34,150,713 (GRCm39)	missense	probably benign	0.00
R8158:Rgl2	UTSW	17	34,155,918 (GRCm39)	missense	probably benign	0.27
R8209:Rgl2	UTSW	17	34,151,501 (GRCm39)	missense	possibly damaging	0.91
R8226:Rgl2	UTSW	17	34,151,501 (GRCm39)	missense	possibly damaging	0.91
R8405:Rgl2	UTSW	17	34,152,698 (GRCm39)	nonsense	probably null
R8871:Rgl2	UTSW	17	34,153,974 (GRCm39)	missense	probably damaging	1.00
R9205:Rgl2	UTSW	17	34,155,002 (GRCm39)	missense	probably damaging	1.00
R9591:Rgl2	UTSW	17	34,151,451 (GRCm39)	missense	possibly damaging	0.50
X0028:Rgl2	UTSW	17	34,151,432 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGGTGACTGTGAGACCAC -3'
(R):5'- CTGGGAATAATTATCCTCCTCTGAG -3'

Sequencing Primer
(F):5'- CTCCTAGAGAAGTGGATCCGTG -3'
(R):5'- ATCCTCCTCTGAGAAAATCTGGC -3'

Posted On

2019-06-26