Mutagenetix > Incidental Mutations

Incidental Mutation 'R6368:Ralgps2'

512771

Institutional Source

Beutler Lab

Gene Symbol

Ralgps2

Ensembl Gene

ENSMUSG00000026594

Gene Name

Ral GEF with PH domain and SH3 binding motif 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156804166-156939626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156884574 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 147 (L147I)

Ref Sequence

ENSEMBL: ENSMUSP00000139645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027886] [ENSMUST00000063199] [ENSMUST00000171292] [ENSMUST00000172057] [ENSMUST00000185198] [ENSMUST00000188656] [ENSMUST00000189316] [ENSMUST00000190648] [ENSMUST00000190762] [ENSMUST00000191605] [ENSMUST00000192343]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027886
AA Change: L147I

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

SMART Domains

Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594
AA Change: L147I

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PH	439	552	1.01e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000063199
AA Change: L147I

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

SMART Domains

Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594
AA Change: L147I

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PH	465	578	1.01e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171292
AA Change: L147I

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

SMART Domains

Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594
AA Change: L147I

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PH	465	578	1.01e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172057
AA Change: L112I

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

SMART Domains

Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594
AA Change: L112I

Domain	Start	End	E-Value	Type
RasGEF	5	253	1.35e-83	SMART
low complexity region	359	382	N/A	INTRINSIC
PH	430	543	1.01e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185198
AA Change: L147I

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

SMART Domains

Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594
AA Change: L147I

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
Blast:PH	465	562	3e-55	BLAST
PDB:2DTC\|B	466	551	9e-34	PDB
SCOP:d1btn__	467	546	2e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000188656
AA Change: L147I

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

SMART Domains

Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594
AA Change: L147I

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	1.4e-93	SMART
low complexity region	394	417	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189316
AA Change: L147I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594
AA Change: L147I

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PDB:2DTC\|B	466	520	6e-16	PDB
SCOP:d1btn__	467	519	1e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000190648
AA Change: L147I

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

SMART Domains

Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594
AA Change: L147I

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	1.4e-93	SMART
low complexity region	394	417	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190762

SMART Domains

Protein: ENSMUSP00000139822
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
Pfam:RasGEF	46	128	3e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000191605
AA Change: L147I

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

SMART Domains

Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594
AA Change: L147I

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
RasGEF	45	288	2.31e-91	SMART
low complexity region	394	417	N/A	INTRINSIC
PH	465	578	1.01e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192343

SMART Domains

Protein: ENSMUSP00000142004
Gene: ENSMUSG00000026594

Domain	Start	End	E-Value	Type
SCOP:d1bkds_	1	70	3e-5	SMART
PDB:3QXL\|B	38	71	3e-14	PDB
Blast:RasGEF	45	74	1e-11	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	C	A	9: 55,990,132	E272D	possibly damaging	Het
Abi2	A	G	1: 60,453,651	T158A	possibly damaging	Het
Acacb	T	C	5: 114,216,823	S1221P	probably damaging	Het
Agbl1	A	G	7: 76,419,830	D370G	probably benign	Het
Apeh	A	G	9: 108,087,243	I487T	probably damaging	Het
Arid1b	C	A	17: 5,332,533	N1297K	possibly damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atp7b	A	C	8: 22,020,755		probably null	Het
Bsn	C	T	9: 108,111,314		probably benign	Het
Caps2	C	T	10: 112,194,968	Q268*	probably null	Het
Cnfn	C	T	7: 25,367,961		probably null	Het
Cr2	A	G	1: 195,168,472	S229P	probably damaging	Het
Cubn	T	C	2: 13,430,995	Y1050C	probably damaging	Het
Cubn	T	C	2: 13,476,123	E307G	probably damaging	Het
Cyb5r3	A	C	15: 83,160,124	Y182D	possibly damaging	Het
Dclre1a	A	T	19: 56,546,791	H120Q	probably benign	Het
Ddx6	T	C	9: 44,635,776	I457T	probably damaging	Het
E2f1	A	T	2: 154,564,476	H93Q	possibly damaging	Het
Fam186a	T	C	15: 99,943,317	K1682R	possibly damaging	Het
Farsb	A	G	1: 78,466,965		probably null	Het
Flii	A	T	11: 60,721,136	L347Q	probably damaging	Het
Galntl6	T	G	8: 58,911,441	T12P	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm21680	T	C	5: 25,969,036	N190S	probably damaging	Het
Ifit1bl2	T	C	19: 34,619,125	S364G	probably benign	Het
Kdm2a	A	G	19: 4,350,317	I234T	probably damaging	Het
Kdm5b	T	C	1: 134,599,207	C356R	probably damaging	Het
Kel	A	T	6: 41,688,851	C174*	probably null	Het
Krt16	T	A	11: 100,246,676	D401V	probably damaging	Het
Ltb4r1	A	C	14: 55,767,743	I168L	probably benign	Het
Luzp1	T	A	4: 136,541,780	M438K	probably benign	Het
Mtf1	C	T	4: 124,824,352	T281M	probably damaging	Het
Myo9a	T	A	9: 59,924,948	S2587T	probably benign	Het
Olfr1311	A	T	2: 112,021,551	I101N	probably damaging	Het
Olfr1377	T	A	11: 50,984,786	F28L	probably benign	Het
Olfr532	G	T	7: 140,419,667	Y35*	probably null	Het
Olfr860	T	C	9: 19,846,409	D70G	probably damaging	Het
Pcm1	T	A	8: 41,293,544	F1221Y	probably benign	Het
Pnldc1	A	T	17: 12,905,864	N90K	probably damaging	Het
Prickle2	A	T	6: 92,420,237	L169Q	probably damaging	Het
Rfx3	A	T	19: 27,768,609	L674Q	possibly damaging	Het
Rpl3	C	A	15: 80,082,544	L14F	probably damaging	Het
Rrbp1	C	T	2: 143,989,555	G231R	probably damaging	Het
Sema3d	C	T	5: 12,571,013	L529F	probably damaging	Het
Slain1	A	T	14: 103,656,955	T193S	probably benign	Het
Slc2a6	G	T	2: 27,024,587	Q256K	possibly damaging	Het
Slk	A	G	19: 47,620,183	E525G	possibly damaging	Het
Spsb4	G	T	9: 96,944,645	Q252K	probably benign	Het
Taf1b	A	G	12: 24,558,257	T552A	possibly damaging	Het
Tmprss15	T	C	16: 79,006,057		probably null	Het
Tph2	T	C	10: 115,179,326	H177R	probably damaging	Het
Ttll1	A	G	15: 83,489,617	S332P	probably damaging	Het
Twf2	T	G	9: 106,212,833	N128K	probably benign	Het
Vegfc	T	A	8: 54,181,230	C315S	probably damaging	Het
Vmn2r111	T	A	17: 22,571,908	K136N	probably benign	Het
Wnk2	T	C	13: 49,061,338	E496G	probably damaging	Het
Zfp148	C	A	16: 33,497,198	Q705K	probably damaging	Het
Zw10	C	T	9: 49,073,235	A539V	probably damaging	Het

Other mutations in Ralgps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02406:Ralgps2	APN	1	156828268	missense	possibly damaging	0.49
IGL02669:Ralgps2	APN	1	156832698	missense	probably damaging	1.00
IGL02898:Ralgps2	APN	1	156817744	missense	probably benign	0.13
R0164:Ralgps2	UTSW	1	156887089	critical splice donor site	probably null
R0164:Ralgps2	UTSW	1	156887089	critical splice donor site	probably null
R0295:Ralgps2	UTSW	1	156823985	splice site	probably benign
R0551:Ralgps2	UTSW	1	156832663	critical splice donor site	probably null
R1179:Ralgps2	UTSW	1	156901799	missense	probably damaging	1.00
R1573:Ralgps2	UTSW	1	156832930	missense	possibly damaging	0.85
R2112:Ralgps2	UTSW	1	156832708	missense	probably damaging	1.00
R4832:Ralgps2	UTSW	1	156857067	intron	probably benign
R5316:Ralgps2	UTSW	1	156813497	missense	probably damaging	0.99
R5762:Ralgps2	UTSW	1	156832664	critical splice donor site	probably null
R6572:Ralgps2	UTSW	1	156824050	splice site	probably null
R6777:Ralgps2	UTSW	1	156887945	critical splice donor site	probably null
R7165:Ralgps2	UTSW	1	156828248	missense	probably benign	0.05
R7866:Ralgps2	UTSW	1	156887168	missense	probably benign	0.00
R7879:Ralgps2	UTSW	1	156829066	missense	probably benign
R8284:Ralgps2	UTSW	1	156828148	missense	probably benign	0.03
R8329:Ralgps2	UTSW	1	156884540	missense	probably damaging	1.00
R8339:Ralgps2	UTSW	1	156821438	missense	probably null	0.08
R8448:Ralgps2	UTSW	1	156824174	splice site	probably null
X0020:Ralgps2	UTSW	1	156819892	missense	possibly damaging	0.64
Z1176:Ralgps2	UTSW	1	156829075	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CATTCCCTCAAAAGCTCAGTGC -3'
(R):5'- GACAGTTTCCAAAAGTGACAGTAAC -3'

Sequencing Primer
(F):5'- TGTTGGTTTCAAAGAACAAAGTGC -3'
(R):5'- CCACTGCCTAAATTGTGC -3'

Posted On

2018-04-27