Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Ralgps2'

170926

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

039612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156631736-156767196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 156660500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 237 (R237Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139645 (fasta)

Gene Model

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

AlphaFold

Q9ERD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027886
AA Change: R237Q

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594
AA Change: R237Q

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

possibly damaging
Transcript: ENSMUST00000063199
AA Change: R237Q

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594
AA Change: R237Q

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

possibly damaging
Transcript: ENSMUST00000171292
AA Change: R237Q

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594
AA Change: R237Q

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

possibly damaging
Transcript: ENSMUST00000172057
AA Change: R202Q

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594
AA Change: R202Q

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

possibly damaging
Transcript: ENSMUST00000185198
AA Change: R237Q

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594
AA Change: R237Q

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

noncoding transcript
Transcript: ENSMUST00000185970

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188656
AA Change: R237Q

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594
AA Change: R237Q

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

possibly damaging
Transcript: ENSMUST00000191605
AA Change: R237Q

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594
AA Change: R237Q

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

possibly damaging
Transcript: ENSMUST00000190648
AA Change: R237Q

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594
AA Change: R237Q

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

possibly damaging
Transcript: ENSMUST00000189316
AA Change: R237Q

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594
AA Change: R237Q

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

noncoding transcript
Transcript: ENSMUST00000190758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191503

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

Meta Mutation Damage Score

0.1219

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	probably benign	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
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
R7879:Ralgps2	UTSW	1	156,656,636 (GRCm39)	missense	probably benign
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'- GGCTAGGCACTAGAGTAGACTCCATAC -3'
(R):5'- GCCACTTTGCCCACTGATAAGGAC -3'

Sequencing Primer
(F):5'- AGTAGACTCCATACTTAGATGAAAGG -3'
(R):5'- GGACTTTTAATTGCAGCCCAAGAC -3'

Posted On

2014-04-13