Mutagenetix > Incidental Mutations

Incidental Mutation 'R7288:Rabep2'

566158

Institutional Source

Beutler Lab

Gene Symbol

Rabep2

Ensembl Gene

ENSMUSG00000030727

Gene Name

rabaptin, RAB GTPase binding effector protein 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R7288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126428759-126449245 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126444205 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 426 (R426C)

Ref Sequence

ENSEMBL: ENSMUSP00000102015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032974] [ENSMUST00000106405] [ENSMUST00000106407]

Predicted Effect

probably benign
Transcript: ENSMUST00000032974

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.39e-16	SMART
Pfam:E1-E2_ATPase	92	340	1.5e-66	PFAM
Pfam:Hydrolase	345	715	7.5e-20	PFAM
Pfam:HAD	348	712	1.2e-18	PFAM
Pfam:Cation_ATPase	418	528	3.2e-23	PFAM
Pfam:Hydrolase_3	683	747	2.3e-7	PFAM
Pfam:Cation_ATPase_C	784	987	4.8e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106405
AA Change: R383C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727
AA Change: R383C

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	2	107	1.4e-41	PFAM
low complexity region	139	158	N/A	INTRINSIC
low complexity region	175	194	N/A	INTRINSIC
Pfam:Rabaptin	196	311	5.9e-10	PFAM
Pfam:Rab5-bind	289	456	4.6e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106407
AA Change: R426C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727
AA Change: R426C

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	13	171	1.4e-39	PFAM
low complexity region	182	201	N/A	INTRINSIC
low complexity region	218	237	N/A	INTRINSIC
Pfam:Rab5-bind	274	487	4.1e-21	PFAM
Pfam:Rab5-bind	469	531	1.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146973

SMART Domains

Protein: ENSMUSP00000119018
Gene: ENSMUSG00000030730

Domain	Start	End	E-Value	Type
Pfam:Cation_ATPase_C	6	132	6.3e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,305	D204E	probably benign	Het
Adh1	T	G	3: 138,282,732	D155E	probably benign	Het
Akt1s1	T	C	7: 44,849,147	L2P	unknown	Het
Ash1l	T	A	3: 88,965,892		probably benign	Het
Bend7	C	T	2: 4,752,830	P228S	probably damaging	Het
Bpifc	T	C	10: 85,988,721	E218G	possibly damaging	Het
Cdk6	T	A	5: 3,429,001	F127Y	probably benign	Het
Cgnl1	A	T	9: 71,725,564	H168Q	possibly damaging	Het
Chd7	C	T	4: 8,847,093	T1612I	possibly damaging	Het
Col4a4	A	T	1: 82,492,463	C782S	unknown	Het
Copg2	T	A	6: 30,824,406	I364L	probably damaging	Het
Crygb	A	G	1: 65,081,925	L81P	probably benign	Het
Cyp4f18	A	T	8: 71,993,173	M326K	probably damaging	Het
Dhx34	A	G	7: 16,215,436	S356P	probably benign	Het
Dmbt1	C	T	7: 131,083,789	Q855*	probably null	Het
Dnph1	A	G	17: 46,499,012	N160S	probably benign	Het
Esrra	A	T	19: 6,912,771	C228*	probably null	Het
Evpl	T	C	11: 116,223,949	N972D	probably benign	Het
Fat3	T	C	9: 15,998,592	D2038G	probably damaging	Het
Fhit	T	A	14: 9,763,784	R102W	probably damaging	Het
Gal3st1	A	T	11: 3,998,609	D272V	probably damaging	Het
Gal3st1	T	A	11: 3,998,651	V286D	probably damaging	Het
Gemin4	A	T	11: 76,213,380	M185K	possibly damaging	Het
Hecw1	T	C	13: 14,316,236	I311V	probably benign	Het
Ift172	T	C	5: 31,285,286	Y179C	probably damaging	Het
Ighv7-3	C	T	12: 114,153,343	W66*	probably null	Het
Iqgap3	T	A	3: 88,108,835	I975N	probably damaging	Het
Khdrbs3	A	G	15: 69,049,413	E281G	possibly damaging	Het
Lamb2	A	T	9: 108,488,324	T1369S	probably benign	Het
Mettl8	A	T	2: 70,982,038	D84E	probably benign	Het
Mrgprb3	C	A	7: 48,643,311	C164F	probably damaging	Het
Mtg2	A	G	2: 180,083,387	Y131C	probably damaging	Het
Nacc1	C	T	8: 84,676,545	A234T	probably benign	Het
Nsmaf	C	T	4: 6,416,641	V551I	probably benign	Het
Olfr541	T	A	7: 140,705,029	C259*	probably null	Het
Olfr869	T	A	9: 20,137,441	Y108*	probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Pcdhb12	T	A	18: 37,436,015	D71E	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pkm	A	G	9: 59,668,913	S127G	probably benign	Het
Plxna2	T	A	1: 194,796,919	L1296H	probably damaging	Het
Ppil6	C	G	10: 41,498,528	T135R	probably benign	Het
Ppp2r3a	T	C	9: 101,127,004	Y378C	probably damaging	Het
Rad21	A	T	15: 51,982,580	H31Q	possibly damaging	Het
Rad50	G	T	11: 53,654,949	Y1182*	probably null	Het
Serpinb9c	C	T	13: 33,151,900	A218T	possibly damaging	Het
Slc17a2	C	A	13: 23,819,112	H248Q	probably benign	Het
Slc45a4	C	A	15: 73,586,936	E255*	probably null	Het
Slc8a3	T	A	12: 81,216,824	K596N	possibly damaging	Het
Tbc1d32	A	C	10: 56,051,387		probably null	Het
Tbl2	T	A	5: 135,154,399	I112N	possibly damaging	Het
Tchp	A	C	5: 114,715,569	K238T	probably damaging	Het
Tfap2d	G	A	1: 19,118,983	G251D	probably damaging	Het
Thrb	T	A	14: 18,030,186	M324K	probably damaging	Het
Tmem259	A	T	10: 79,978,466	L328Q	probably damaging	Het
Tmtc2	T	C	10: 105,413,608	H88R	probably damaging	Het
Tnfrsf21	A	G	17: 43,037,818	H107R	possibly damaging	Het
Trib1	T	C	15: 59,654,622	V347A	probably benign	Het
Ung	T	A	5: 114,131,254	L9*	probably null	Het
Vmn1r195	G	T	13: 22,279,004	V215F	probably damaging	Het
Wdr63	T	C	3: 146,081,252	T343A	probably damaging	Het
Wdr90	A	G	17: 25,846,312	S1657P	probably benign	Het
Wdsub1	A	T	2: 59,878,143	Y129N	possibly damaging	Het
Zfp369	T	G	13: 65,285,018		probably null	Het
Zfp770	G	T	2: 114,195,661	C642*	probably null	Het
Zfp981	C	T	4: 146,537,643	R342C	probably benign	Het
Zhx3	A	C	2: 160,781,122	V375G	probably damaging	Het

Other mutations in Rabep2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02203:Rabep2	APN	7	126440394	missense	possibly damaging	0.56
R0799:Rabep2	UTSW	7	126438724	missense	probably damaging	1.00
R1219:Rabep2	UTSW	7	126429627	missense	probably damaging	1.00
R1731:Rabep2	UTSW	7	126444272	missense	probably damaging	1.00
R1735:Rabep2	UTSW	7	126444540	missense	probably damaging	1.00
R1789:Rabep2	UTSW	7	126438799	missense	possibly damaging	0.76
R1951:Rabep2	UTSW	7	126438564	missense	possibly damaging	0.67
R2113:Rabep2	UTSW	7	126445288	splice site	probably null
R4008:Rabep2	UTSW	7	126445374	missense	probably damaging	1.00
R4357:Rabep2	UTSW	7	126448225	missense	probably damaging	1.00
R4915:Rabep2	UTSW	7	126444922	missense	probably damaging	1.00
R5176:Rabep2	UTSW	7	126434293	intron	probably benign
R5512:Rabep2	UTSW	7	126438799	missense	possibly damaging	0.76
R6729:Rabep2	UTSW	7	126440197	missense	probably benign	0.00
R7055:Rabep2	UTSW	7	126445313	missense	possibly damaging	0.94
R7419:Rabep2	UTSW	7	126444170	missense	probably benign	0.07
R7426:Rabep2	UTSW	7	126438719	missense	probably damaging	1.00
R7477:Rabep2	UTSW	7	126444818	critical splice acceptor site	probably null
R7801:Rabep2	UTSW	7	126438412	missense	possibly damaging	0.66
R7823:Rabep2	UTSW	7	126438721	missense	probably damaging	1.00
R8245:Rabep2	UTSW	7	126440408	missense	possibly damaging	0.93
R8265:Rabep2	UTSW	7	126444251	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTACCCTCTCTGACTGTGG -3'
(R):5'- TGAATCTCCAGTGCACCTCC -3'

Sequencing Primer
(F):5'- ACTCAACTTTGTAGACCAGGCTGG -3'
(R):5'- AGTGCACCTCCTCCTGATG -3'

Posted On

2019-06-26