Mutagenetix > Incidental Mutation

Incidental Mutation 'R7879:Ralgps2'

608611

Institutional Source

Beutler Lab

Gene Symbol

Ralgps2

Ensembl Gene

ENSMUSG00000026594

Gene Name

Ral GEF with PH domain and SH3 binding motif 2

Synonyms

1810020P17Rik, 4921528G01Rik, 9130014M22Rik, 2210408F11Rik

MMRRC Submission

045931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7879 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156631736-156767196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 156656636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 323 (A323S)

Ref Sequence

ENSEMBL: ENSMUSP00000063872 (fasta)

Gene Model

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

AlphaFold

Q9ERD6

Predicted Effect

probably benign
Transcript: ENSMUST00000027886
AA Change: A323S

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

SMART Domains

Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594
AA Change: A323S

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 benign
Transcript: ENSMUST00000063199
AA Change: A323S

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

SMART Domains

Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594
AA Change: A323S

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: ENSMUST00000171292
AA Change: A323S

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

SMART Domains

Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594
AA Change: A323S

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: ENSMUST00000172057
AA Change: A288S

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

SMART Domains

Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594
AA Change: A288S

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 benign
Transcript: ENSMUST00000185198
AA Change: A323S

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

SMART Domains

Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594
AA Change: A323S

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 benign
Transcript: ENSMUST00000188656
AA Change: A323S

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

SMART Domains

Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594
AA Change: A323S

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: ENSMUST00000189316
AA Change: A323S

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

SMART Domains

Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594
AA Change: A323S

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 benign
Transcript: ENSMUST00000190648
AA Change: A323S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594
AA Change: A323S

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: ENSMUST00000191605
AA Change: A323S

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

SMART Domains

Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594
AA Change: A323S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,439,662 (GRCm39)	I81T	probably benign	Het
Acnat2	G	A	4: 49,383,299 (GRCm39)	P85S	probably damaging	Het
Akr1c19	G	A	13: 4,286,223 (GRCm39)	V74M	probably damaging	Het
Alb	C	A	5: 90,620,507 (GRCm39)	T539K	probably benign	Het
B4galnt2	G	A	11: 95,760,223 (GRCm39)	T268I	possibly damaging	Het
Bcl7b	G	A	5: 135,205,986 (GRCm39)	E58K	possibly damaging	Het
Calr3	C	T	8: 73,178,487 (GRCm39)	S372N	unknown	Het
Cdcp3	T	A	7: 130,844,871 (GRCm39)	V588E	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Cdh20	A	C	1: 109,976,677 (GRCm39)	E114A	probably benign	Het
Cep70	A	G	9: 99,144,686 (GRCm39)	R74G	possibly damaging	Het
Chrna6	A	G	8: 27,897,109 (GRCm39)	F256S	probably damaging	Het
Cic	A	G	7: 24,984,551 (GRCm39)	T996A	probably benign	Het
Clstn2	A	G	9: 97,351,817 (GRCm39)	V536A	possibly damaging	Het
Csmd1	A	T	8: 16,441,820 (GRCm39)	M348K	probably benign	Het
Dnah11	A	C	12: 118,004,744 (GRCm39)	D2192E	probably damaging	Het
Dnhd1	A	G	7: 105,352,646 (GRCm39)	I2600V	probably benign	Het
Dock3	A	C	9: 106,785,700 (GRCm39)	S185A	probably benign	Het
Dock4	A	T	12: 40,780,083 (GRCm39)	D628V	possibly damaging	Het
Dzank1	A	T	2: 144,333,718 (GRCm39)	S371T	probably benign	Het
Fam83b	A	T	9: 76,399,737 (GRCm39)	N455K	possibly damaging	Het
Fcrlb	T	C	1: 170,736,365 (GRCm39)	Y137C	probably damaging	Het
Gtf2i	G	A	5: 134,295,471 (GRCm39)	T327M	possibly damaging	Het
Hspa5	T	A	2: 34,665,941 (GRCm39)	M595K	probably benign	Het
Htt	C	T	5: 34,981,252 (GRCm39)	A875V	probably benign	Het
Hvcn1	G	A	5: 122,376,701 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,238,145 (GRCm39)	S679P	probably damaging	Het
Itsn2	A	G	12: 4,751,265 (GRCm39)	H1285R	probably benign	Het
Kcnq4	T	C	4: 120,559,632 (GRCm39)	T523A	probably benign	Het
Kif6	T	A	17: 50,139,214 (GRCm39)	I562N	probably benign	Het
Klhl9	C	A	4: 88,638,575 (GRCm39)	W555C	probably damaging	Het
Krt78	T	C	15: 101,856,624 (GRCm39)	T423A	probably benign	Het
Mapk10	C	T	5: 103,111,362 (GRCm39)	V391I	probably benign	Het
Noa1	T	C	5: 77,445,044 (GRCm39)	M592V	probably benign	Het
Npy5r	A	G	8: 67,133,968 (GRCm39)	M275T	possibly damaging	Het
Nuak2	T	A	1: 132,259,695 (GRCm39)	V499E	probably benign	Het
Or4x6	A	T	2: 89,949,185 (GRCm39)	C252*	probably null	Het
Or6c213	T	C	10: 129,574,559 (GRCm39)	I76V	probably benign	Het
Otogl	T	C	10: 107,612,970 (GRCm39)	E2052G	probably benign	Het
Pard3b	T	A	1: 62,198,670 (GRCm39)	C253S	possibly damaging	Het
Pclo	T	C	5: 14,727,228 (GRCm39)	S2029P	unknown	Het
Plekhg3	A	G	12: 76,612,343 (GRCm39)	I401M	probably damaging	Het
Polg	A	T	7: 79,100,392 (GRCm39)	C1140S	probably benign	Het
Prl7c1	A	T	13: 27,962,817 (GRCm39)	L62H	probably damaging	Het
Psmf1	T	A	2: 151,576,163 (GRCm39)	E115V	probably benign	Het
Ptpn9	A	T	9: 56,964,010 (GRCm39)	N381I	possibly damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Qrich1	A	G	9: 108,436,485 (GRCm39)	T728A	possibly damaging	Het
Rimbp3	T	C	16: 17,028,910 (GRCm39)	V778A	possibly damaging	Het
Scn1a	A	T	2: 66,116,349 (GRCm39)	L430*	probably null	Het
Sema7a	A	T	9: 57,862,363 (GRCm39)	I189F	probably damaging	Het
Slc22a8	T	C	19: 8,571,386 (GRCm39)	I39T	probably benign	Het
Stap2	T	C	17: 56,309,023 (GRCm39)	T115A	probably benign	Het
Stmn4	A	G	14: 66,595,388 (GRCm39)	I138V	probably benign	Het
Suds3	C	T	5: 117,236,335 (GRCm39)		probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet1	A	C	10: 62,714,825 (GRCm39)	D323E	probably benign	Het
Tia1	A	G	6: 86,401,347 (GRCm39)	D140G	probably damaging	Het
Trio	C	T	15: 27,852,010 (GRCm39)	R827H	possibly damaging	Het
Ttn	A	G	2: 76,625,397 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,549,866 (GRCm39)	V708A	probably benign	Het
Vmn1r194	A	T	13: 22,428,772 (GRCm39)	T130S	probably benign	Het
Wfikkn2	A	G	11: 94,129,755 (GRCm39)	C129R	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het

Other mutations in Ralgps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02406:Ralgps2	APN	1	156,655,838 (GRCm39)	missense	possibly damaging	0.49
IGL02669:Ralgps2	APN	1	156,660,268 (GRCm39)	missense	probably damaging	1.00
IGL02898:Ralgps2	APN	1	156,645,314 (GRCm39)	missense	probably benign	0.13
R0164:Ralgps2	UTSW	1	156,714,659 (GRCm39)	critical splice donor site	probably null
R0164:Ralgps2	UTSW	1	156,714,659 (GRCm39)	critical splice donor site	probably null
R0295:Ralgps2	UTSW	1	156,651,555 (GRCm39)	splice site	probably benign
R0551:Ralgps2	UTSW	1	156,660,233 (GRCm39)	critical splice donor site	probably null
R1179:Ralgps2	UTSW	1	156,729,369 (GRCm39)	missense	probably damaging	1.00
R1573:Ralgps2	UTSW	1	156,660,500 (GRCm39)	missense	possibly damaging	0.85
R2112:Ralgps2	UTSW	1	156,660,278 (GRCm39)	missense	probably damaging	1.00
R4832:Ralgps2	UTSW	1	156,684,637 (GRCm39)	intron	probably benign
R5316:Ralgps2	UTSW	1	156,641,067 (GRCm39)	missense	probably damaging	0.99
R5762:Ralgps2	UTSW	1	156,660,234 (GRCm39)	critical splice donor site	probably null
R6368:Ralgps2	UTSW	1	156,712,144 (GRCm39)	missense	probably damaging	1.00
R6572:Ralgps2	UTSW	1	156,651,620 (GRCm39)	splice site	probably null
R6777:Ralgps2	UTSW	1	156,715,515 (GRCm39)	critical splice donor site	probably null
R7165:Ralgps2	UTSW	1	156,655,818 (GRCm39)	missense	probably benign	0.05
R7866:Ralgps2	UTSW	1	156,714,738 (GRCm39)	missense	probably benign	0.00
R8284:Ralgps2	UTSW	1	156,655,718 (GRCm39)	missense	probably benign	0.03
R8329:Ralgps2	UTSW	1	156,712,110 (GRCm39)	missense	probably damaging	1.00
R8339:Ralgps2	UTSW	1	156,649,008 (GRCm39)	missense	probably null	0.08
R8448:Ralgps2	UTSW	1	156,651,744 (GRCm39)	splice site	probably null
R9334:Ralgps2	UTSW	1	156,715,599 (GRCm39)	missense	probably damaging	1.00
X0020:Ralgps2	UTSW	1	156,647,462 (GRCm39)	missense	possibly damaging	0.64
Z1176:Ralgps2	UTSW	1	156,656,645 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ACGTTCAGTGTATTACTATGGCTC -3'
(R):5'- TTAAGAGTGCACGCCTATCTC -3'

Sequencing Primer
(F):5'- CAGTGTATTACTATGGCTCTCTAAAC -3'
(R):5'- CTGCCTTTGTTTACTGTACATAAGAG -3'

Posted On

2019-12-20