Mutagenetix > Incidental Mutations

Incidental Mutation 'R7186:Ralgapa2'

559278

Institutional Source

Beutler Lab

Gene Symbol

Ralgapa2

Ensembl Gene

ENSMUSG00000037110

Gene Name

Ral GTPase activating protein, alpha subunit 2 (catalytic)

Synonyms

AS250, RGC2, A230067G21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R7186 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146239879-146512344 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 146388486 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109986] [ENSMUST00000131824] [ENSMUST00000228797]

Predicted Effect

probably null
Transcript: ENSMUST00000109986

SMART Domains

Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110

Domain	Start	End	E-Value	Type
low complexity region	469	480	N/A	INTRINSIC
low complexity region	1017	1028	N/A	INTRINSIC
low complexity region	1296	1301	N/A	INTRINSIC
Pfam:Rap_GAP	1701	1877	6.8e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000131824

SMART Domains

Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110

Domain	Start	End	E-Value	Type
low complexity region	469	480	N/A	INTRINSIC
low complexity region	979	990	N/A	INTRINSIC
low complexity region	1258	1263	N/A	INTRINSIC
Pfam:Rap_GAP	1663	1842	1.3e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146307

SMART Domains

Protein: ENSMUSP00000114547
Gene: ENSMUSG00000037110

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
low complexity region	285	290	N/A	INTRINSIC
Pfam:Rap_GAP	690	830	4.9e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148784

Predicted Effect

probably null
Transcript: ENSMUST00000149499

SMART Domains

Protein: ENSMUSP00000122017
Gene: ENSMUSG00000037110

Domain	Start	End	E-Value	Type
low complexity region	140	151	N/A	INTRINSIC
low complexity region	650	661	N/A	INTRINSIC
low complexity region	929	934	N/A	INTRINSIC
Pfam:Rap_GAP	1334	1511	2.4e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000228797

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased incidence and severity of induced urothelial bladder tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 49,019,273	I778F	possibly damaging	Het
Adam39	A	T	8: 40,826,312	N580I	probably damaging	Het
Adamts20	A	G	15: 94,322,808	S1415P	possibly damaging	Het
Adcy2	A	G	13: 68,668,639	Y743H	probably damaging	Het
Aldh1a3	A	G	7: 66,406,083	V320A	probably damaging	Het
Arid1a	TGCCGCCGCCGCCGCCGCCGCCG	TGCCGCCGCCGCCGCCGCCG	4: 133,753,233			Het
Art5	G	T	7: 102,097,329	R268S	probably benign	Het
Bfar	T	C	16: 13,692,507	V238A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cdc23	G	A	18: 34,637,122	T408I	probably damaging	Het
Cdh24	G	C	14: 54,633,492	P522A	probably benign	Het
Clk4	T	C	11: 51,268,780	V61A	probably benign	Het
Clrn2	T	C	5: 45,453,773		probably benign	Het
Cyp2j8	T	C	4: 96,475,550	D292G	probably benign	Het
Deaf1	T	C	7: 141,327,470	E34G	probably benign	Het
Elovl7	A	G	13: 108,271,848	E127G	probably damaging	Het
Fam46b	T	A	4: 133,486,207	F130I	probably damaging	Het
Flg	A	T	3: 93,279,945	R235*	probably null	Het
Gbp3	G	A	3: 142,564,162	V77M	probably damaging	Het
Gda	A	T	19: 21,395,205	F450I	probably benign	Het
Gipc1	A	G	8: 83,664,133	E289G	possibly damaging	Het
Gm21731	C	T	13: 120,241,051	L128F	probably damaging	Het
Gm4924	T	C	10: 82,378,944	Y859H	unknown	Het
Gpatch1	A	T	7: 35,295,313	D509E	possibly damaging	Het
Gpbp1	A	G	13: 111,440,699	V219A	possibly damaging	Het
Gpr107	A	T	2: 31,152,359	M1L	possibly damaging	Het
Heg1	T	C	16: 33,731,664	F1003L	probably damaging	Het
Hivep1	A	G	13: 42,156,338	T685A	probably benign	Het
Hpse	T	A	5: 100,695,529	D259V	probably damaging	Het
Ido2	A	T	8: 24,550,810		probably null	Het
Ighv14-1	T	C	12: 113,932,029	D92G	probably damaging	Het
Krt83	A	T	15: 101,487,202		probably null	Het
Lsp1	T	C	7: 142,490,352	V278A	probably damaging	Het
Lurap1l	C	A	4: 80,911,510	S52R	possibly damaging	Het
Luzp2	A	G	7: 54,835,829		probably benign	Het
Micall1	A	G	15: 79,125,375	E399G	unknown	Het
Ncapd2	A	G	6: 125,186,156	S130P	possibly damaging	Het
Nrg2	A	G	18: 36,045,920	V321A	probably benign	Het
Nuf2	T	C	1: 169,525,385	H17R	probably damaging	Het
Numb	A	G	12: 83,796,146	W419R	probably damaging	Het
Olfr1318	T	A	2: 112,156,162	D70E	probably damaging	Het
Olfr462	G	A	11: 87,889,765	L44F	possibly damaging	Het
Olfr681	A	G	7: 105,122,266	R270G	probably benign	Het
Pde6a	T	A	18: 61,220,606	M1K	probably null	Het
Pknox1	C	T	17: 31,603,198	A313V	probably damaging	Het
Ppp2ca	T	A	11: 52,119,253	N229K	possibly damaging	Het
Ptgdr	A	T	14: 44,858,944	C104S	probably damaging	Het
Rfx5	G	T	3: 94,958,348	K319N	probably benign	Het
Rnase10	A	T	14: 51,009,785	T207S	probably damaging	Het
Rreb1	A	G	13: 37,941,632	T1305A	probably benign	Het
Rrp12	C	A	19: 41,871,305		probably null	Het
Rubcnl	A	C	14: 75,032,013	D37A	possibly damaging	Het
Scn9a	T	C	2: 66,534,223	Y802C	probably damaging	Het
Sec16a	A	T	2: 26,440,703	Y433*	probably null	Het
Sgk3	T	A	1: 9,886,002	V331D	probably benign	Het
Sirt7	C	T	11: 120,620,485	R280H	probably benign	Het
Snx13	G	C	12: 35,092,913	R252S	probably damaging	Het
Stk32b	G	T	5: 37,466,781	D207E	probably damaging	Het
Sult2a7	C	T	7: 14,470,053	V262I	not run	Het
Tex45	T	C	8: 3,479,049	F208S	probably damaging	Het
Tmem33	G	C	5: 67,263,787	V35L	possibly damaging	Het
Uba1y	A	G	Y: 825,537	I300V	probably benign	Het
Usp32	A	T	11: 85,051,234	V344E	probably benign	Het
Usp50	C	T	2: 126,783,298		probably benign	Het
Vmn1r238	A	C	18: 3,122,661	F251C	probably damaging	Het
Vmn2r74	A	T	7: 85,951,942	Y829*	probably null	Het
Wars	A	G	12: 108,881,056	F141L	probably damaging	Het
Zfp879	A	G	11: 50,833,794	V145A	probably benign	Het
Zfp934	A	T	13: 62,492,390	V56D	probably benign	Het

Other mutations in Ralgapa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:Ralgapa2	APN	2	146485136	missense	possibly damaging	0.61
IGL00915:Ralgapa2	APN	2	146342522	missense	probably damaging	1.00
IGL01012:Ralgapa2	APN	2	146421739	missense	possibly damaging	0.95
IGL01018:Ralgapa2	APN	2	146410193	missense	probably benign	0.02
IGL01018:Ralgapa2	APN	2	146410192	missense	probably benign	0.00
IGL01902:Ralgapa2	APN	2	146315014	missense	probably damaging	1.00
IGL02160:Ralgapa2	APN	2	146348440	splice site	probably benign
IGL02321:Ralgapa2	APN	2	146412816	nonsense	probably null
IGL02412:Ralgapa2	APN	2	146412132	missense	probably damaging	0.96
IGL03026:Ralgapa2	APN	2	146460775	splice site	probably benign
IGL03115:Ralgapa2	APN	2	146424814	missense	probably damaging	0.99
IGL03256:Ralgapa2	APN	2	146460712	critical splice donor site	probably null
IGL03379:Ralgapa2	APN	2	146357987	missense	probably benign	0.01
P4748:Ralgapa2	UTSW	2	146346811	nonsense	probably null
R0012:Ralgapa2	UTSW	2	146412752	missense	probably benign
R0012:Ralgapa2	UTSW	2	146412752	missense	probably benign
R0165:Ralgapa2	UTSW	2	146388487	splice site	probably benign
R0344:Ralgapa2	UTSW	2	146346794	missense	possibly damaging	0.69
R0402:Ralgapa2	UTSW	2	146434809	missense	probably damaging	0.98
R0419:Ralgapa2	UTSW	2	146428672	missense	possibly damaging	0.69
R0638:Ralgapa2	UTSW	2	146342192	missense	probably benign	0.00
R0704:Ralgapa2	UTSW	2	146451784	missense	probably damaging	1.00
R0722:Ralgapa2	UTSW	2	146388531	missense	probably damaging	1.00
R0866:Ralgapa2	UTSW	2	146436003	missense	probably damaging	1.00
R1065:Ralgapa2	UTSW	2	146450558	missense	probably benign	0.00
R1212:Ralgapa2	UTSW	2	146357982	missense	probably benign	0.00
R1395:Ralgapa2	UTSW	2	146388500	missense	probably damaging	1.00
R1614:Ralgapa2	UTSW	2	146388612	missense	probably damaging	1.00
R1686:Ralgapa2	UTSW	2	146358000	missense	probably benign	0.09
R1799:Ralgapa2	UTSW	2	146342728	missense	probably benign	0.02
R1905:Ralgapa2	UTSW	2	146387701	missense	probably damaging	1.00
R1956:Ralgapa2	UTSW	2	146460759	missense	probably benign	0.00
R2144:Ralgapa2	UTSW	2	146388604	missense	probably damaging	1.00
R2148:Ralgapa2	UTSW	2	146431887	missense	probably benign	0.02
R2219:Ralgapa2	UTSW	2	146421679	missense	probably benign	0.09
R2220:Ralgapa2	UTSW	2	146421679	missense	probably benign	0.09
R2261:Ralgapa2	UTSW	2	146342683	missense	probably damaging	1.00
R2402:Ralgapa2	UTSW	2	146353192	missense	probably damaging	1.00
R2495:Ralgapa2	UTSW	2	146361400	missense	possibly damaging	0.82
R3752:Ralgapa2	UTSW	2	146421631	missense	possibly damaging	0.94
R3953:Ralgapa2	UTSW	2	146435964	missense	probably damaging	1.00
R3956:Ralgapa2	UTSW	2	146435964	missense	probably damaging	1.00
R4177:Ralgapa2	UTSW	2	146485163	missense	probably damaging	1.00
R4182:Ralgapa2	UTSW	2	146435994	missense	probably damaging	1.00
R4193:Ralgapa2	UTSW	2	146342573	missense	probably damaging	1.00
R4332:Ralgapa2	UTSW	2	146260368	missense	probably benign	0.10
R4507:Ralgapa2	UTSW	2	146353248	missense	probably benign	0.11
R4574:Ralgapa2	UTSW	2	146435999	missense	probably damaging	1.00
R4585:Ralgapa2	UTSW	2	146315024	missense	probably damaging	0.99
R4627:Ralgapa2	UTSW	2	146361453	missense	possibly damaging	0.88
R4647:Ralgapa2	UTSW	2	146387629	missense	possibly damaging	0.69
R4677:Ralgapa2	UTSW	2	146345467	missense	possibly damaging	0.82
R4724:Ralgapa2	UTSW	2	146345533	missense	possibly damaging	0.46
R4760:Ralgapa2	UTSW	2	146346749	missense	probably benign	0.00
R4831:Ralgapa2	UTSW	2	146405067	intron	probably benign
R4962:Ralgapa2	UTSW	2	146434834	nonsense	probably null
R4993:Ralgapa2	UTSW	2	146447311	missense	probably damaging	1.00
R5041:Ralgapa2	UTSW	2	146485151	missense	probably benign	0.00
R5120:Ralgapa2	UTSW	2	146412084	missense	probably benign	0.26
R5185:Ralgapa2	UTSW	2	146388486	splice site	probably null
R5393:Ralgapa2	UTSW	2	146345455	missense	probably damaging	1.00
R5428:Ralgapa2	UTSW	2	146334494	missense	probably damaging	0.96
R5439:Ralgapa2	UTSW	2	146342510	missense	probably benign	0.08
R5476:Ralgapa2	UTSW	2	146447436	missense	probably benign
R5695:Ralgapa2	UTSW	2	146333477	missense	probably damaging	1.00
R5705:Ralgapa2	UTSW	2	146449273	missense	probably damaging	1.00
R5718:Ralgapa2	UTSW	2	146453406	splice site	probably null
R5817:Ralgapa2	UTSW	2	146333486	missense	probably damaging	1.00
R5877:Ralgapa2	UTSW	2	146388569	missense	probably damaging	1.00
R5994:Ralgapa2	UTSW	2	146361453	missense	probably benign	0.00
R6048:Ralgapa2	UTSW	2	146434845	missense	possibly damaging	0.46
R6158:Ralgapa2	UTSW	2	146424676	missense	possibly damaging	0.69
R6169:Ralgapa2	UTSW	2	146450465	missense	probably damaging	1.00
R6280:Ralgapa2	UTSW	2	146342209	missense	probably damaging	1.00
R6301:Ralgapa2	UTSW	2	146327411	missense	possibly damaging	0.94
R6650:Ralgapa2	UTSW	2	146388502	missense	probably damaging	1.00
R6959:Ralgapa2	UTSW	2	146342701	missense	probably damaging	0.98
R7020:Ralgapa2	UTSW	2	146346718	nonsense	probably null
R7035:Ralgapa2	UTSW	2	146511857	missense	probably damaging	1.00
R7167:Ralgapa2	UTSW	2	146348454	missense	probably benign
R7252:Ralgapa2	UTSW	2	146342751	critical splice acceptor site	probably null
R7266:Ralgapa2	UTSW	2	146334568	missense	probably damaging	1.00
R7371:Ralgapa2	UTSW	2	146347126	missense	probably benign	0.05
R7432:Ralgapa2	UTSW	2	146434856	missense	probably benign	0.41
R7470:Ralgapa2	UTSW	2	146424667	missense	probably damaging	1.00
R7663:Ralgapa2	UTSW	2	146418415	missense	probably benign	0.01
R7780:Ralgapa2	UTSW	2	146342414	missense	probably benign	0.14
R8018:Ralgapa2	UTSW	2	146340391	missense	probably damaging	1.00
R8063:Ralgapa2	UTSW	2	146443855	missense	probably damaging	1.00
R8070:Ralgapa2	UTSW	2	146353279	missense	probably damaging	0.98
RF019:Ralgapa2	UTSW	2	146361503	missense	possibly damaging	0.53
X0019:Ralgapa2	UTSW	2	146388652	missense	possibly damaging	0.56
Z1088:Ralgapa2	UTSW	2	146434905	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GGACTAAATGAAATAACTCTCAGGC -3'
(R):5'- ATGTTGACACTTTCTCCACAGACAG -3'

Sequencing Primer
(F):5'- ATAACTCTCAGGCATTTAGTAAAGC -3'
(R):5'- GCAGACGACTGTAGCATTATTGC -3'

Posted On

2019-06-26