Mutagenetix > Incidental Mutation

Incidental Mutation 'R5176:Rabep2'

399284

Institutional Source

Beutler Lab

Gene Symbol

Rabep2

Ensembl Gene

ENSMUSG00000030727

Gene Name

rabaptin, RAB GTPase binding effector protein 2

Synonyms

2610011A08Rik

MMRRC Submission

042756-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.408) question?

Stock #

R5176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126027596-126045079 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 126033465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106405] [ENSMUST00000106407] [ENSMUST00000150530] [ENSMUST00000150933]

AlphaFold

Q91WG2

Predicted Effect

probably benign
Transcript: ENSMUST00000106405

SMART Domains

Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727

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 benign
Transcript: ENSMUST00000106407

SMART Domains

Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727

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

noncoding transcript
Transcript: ENSMUST00000127154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141764

Predicted Effect

probably benign
Transcript: ENSMUST00000150530

SMART Domains

Protein: ENSMUSP00000122141
Gene: ENSMUSG00000030727

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	5	54	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150933

SMART Domains

Protein: ENSMUSP00000123559
Gene: ENSMUSG00000030727

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	2	91	2e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151304

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	A	10: 79,834,123 (GRCm39)	H116Q	probably benign	Het
Akap12	G	T	10: 4,303,947 (GRCm39)	E252D	probably benign	Het
Apobr	A	G	7: 126,184,188 (GRCm39)	D2G	probably damaging	Het
Arhgef12	A	T	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Asb3	T	A	11: 31,031,357 (GRCm39)		probably null	Het
Brip1	T	C	11: 85,968,710 (GRCm39)	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,525,143 (GRCm39)	Y1679N	probably damaging	Het
Ccdc69	C	T	11: 54,951,296 (GRCm39)	A42T	probably benign	Het
Cds1	G	T	5: 101,929,286 (GRCm39)	D55Y	possibly damaging	Het
Cep135	C	A	5: 76,784,873 (GRCm39)	D989E	probably benign	Het
Cpsf6	C	A	10: 117,197,189 (GRCm39)		probably benign	Het
Ctif	C	T	18: 75,770,290 (GRCm39)	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dao	T	C	5: 114,158,070 (GRCm39)		probably null	Het
Dop1a	T	A	9: 86,403,868 (GRCm39)	N1689K	probably damaging	Het
Dop1b	A	G	16: 93,536,931 (GRCm39)	Y14C	probably damaging	Het
Fam187a	C	T	11: 102,777,290 (GRCm39)	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,770,598 (GRCm39)		probably benign	Het
Fhip2a	A	G	19: 57,359,613 (GRCm39)	N51S	probably damaging	Het
Fkbp15	G	T	4: 62,230,560 (GRCm39)	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208 (GRCm39)	V118F	probably damaging	Het
Gm13991	T	A	2: 116,358,508 (GRCm39)		noncoding transcript	Het
H2-M9	T	C	17: 36,952,523 (GRCm39)	I174M	probably damaging	Het
Ift70a2	T	C	2: 75,807,421 (GRCm39)	M364V	probably benign	Het
Insr	T	A	8: 3,208,742 (GRCm39)	M1240L	probably benign	Het
Ints15	G	T	5: 143,300,830 (GRCm39)	S7*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,463,738 (GRCm39)	E95D	probably benign	Het
Marchf9	T	C	10: 126,895,319 (GRCm39)	D102G	probably benign	Het
Muc19	A	G	15: 91,776,374 (GRCm39)		noncoding transcript	Het
Nr1h4	T	A	10: 89,334,117 (GRCm39)	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,876,540 (GRCm39)	M1K	probably null	Het
Oprd1	T	C	4: 131,841,104 (GRCm39)	T285A	probably benign	Het
Optc	T	C	1: 133,829,822 (GRCm39)	N196S	probably benign	Het
Or51f5	T	A	7: 102,424,513 (GRCm39)	S261T	probably damaging	Het
Or5g29	A	C	2: 85,421,779 (GRCm39)	K298N	possibly damaging	Het
Or7g21	A	T	9: 19,032,656 (GRCm39)	Y132F	probably damaging	Het
Panx2	G	T	15: 88,944,431 (GRCm39)	R52L	probably damaging	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Prss56	T	C	1: 87,111,880 (GRCm39)	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,393,864 (GRCm39)	T870A	probably damaging	Het
Rbm48	A	C	5: 3,645,444 (GRCm39)	V80G	probably damaging	Het
Rhou	G	T	8: 124,380,848 (GRCm39)	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,652,070 (GRCm39)	D45G	probably benign	Het
Rusc1	A	G	3: 88,996,389 (GRCm39)	S109P	probably damaging	Het
Ryr3	T	C	2: 112,588,012 (GRCm39)	D2643G	possibly damaging	Het
Septin4	T	A	11: 87,458,358 (GRCm39)	M244K	probably benign	Het
Sik2	T	C	9: 50,810,703 (GRCm39)	E471G	probably benign	Het
Sipa1	A	G	19: 5,709,406 (GRCm39)	S310P	probably damaging	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,203,587 (GRCm39)	E1680G	unknown	Het
Steap3	C	T	1: 120,171,497 (GRCm39)		probably null	Het
Tmeff2	T	A	1: 51,110,700 (GRCm39)	C171*	probably null	Het
Tmem138	A	T	19: 10,552,634 (GRCm39)	M33K	probably benign	Het
Trappc11	C	A	8: 47,963,998 (GRCm39)	V601L	possibly damaging	Het
Ttll4	C	A	1: 74,718,445 (GRCm39)	H99N	probably damaging	Het
Uchl4	A	T	9: 64,143,022 (GRCm39)	K168*	probably null	Het
Wdr17	C	T	8: 55,106,913 (GRCm39)		probably null	Het
Xpo1	A	G	11: 23,245,977 (GRCm39)	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,240,549 (GRCm39)	K712N	probably damaging	Het

Other mutations in Rabep2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02203:Rabep2	APN	7	126,039,566 (GRCm39)	missense	possibly damaging	0.56
R0799:Rabep2	UTSW	7	126,037,896 (GRCm39)	missense	probably damaging	1.00
R1219:Rabep2	UTSW	7	126,028,799 (GRCm39)	missense	probably damaging	1.00
R1731:Rabep2	UTSW	7	126,043,444 (GRCm39)	missense	probably damaging	1.00
R1735:Rabep2	UTSW	7	126,043,712 (GRCm39)	missense	probably damaging	1.00
R1789:Rabep2	UTSW	7	126,037,971 (GRCm39)	missense	possibly damaging	0.76
R1951:Rabep2	UTSW	7	126,037,736 (GRCm39)	missense	possibly damaging	0.67
R2113:Rabep2	UTSW	7	126,044,460 (GRCm39)	splice site	probably null
R4008:Rabep2	UTSW	7	126,044,546 (GRCm39)	missense	probably damaging	1.00
R4357:Rabep2	UTSW	7	126,047,397 (GRCm39)	missense	probably damaging	1.00
R4915:Rabep2	UTSW	7	126,044,094 (GRCm39)	missense	probably damaging	1.00
R5512:Rabep2	UTSW	7	126,037,971 (GRCm39)	missense	possibly damaging	0.76
R6729:Rabep2	UTSW	7	126,039,369 (GRCm39)	missense	probably benign	0.00
R7055:Rabep2	UTSW	7	126,044,485 (GRCm39)	missense	possibly damaging	0.94
R7288:Rabep2	UTSW	7	126,043,377 (GRCm39)	missense	probably damaging	1.00
R7419:Rabep2	UTSW	7	126,043,342 (GRCm39)	missense	probably benign	0.07
R7426:Rabep2	UTSW	7	126,037,891 (GRCm39)	missense	probably damaging	1.00
R7477:Rabep2	UTSW	7	126,043,990 (GRCm39)	critical splice acceptor site	probably null
R7801:Rabep2	UTSW	7	126,037,584 (GRCm39)	missense	possibly damaging	0.66
R7823:Rabep2	UTSW	7	126,037,893 (GRCm39)	missense	probably damaging	1.00
R8245:Rabep2	UTSW	7	126,039,580 (GRCm39)	missense	possibly damaging	0.93
R8265:Rabep2	UTSW	7	126,043,423 (GRCm39)	missense	probably benign	0.01
R8476:Rabep2	UTSW	7	126,034,915 (GRCm39)	nonsense	probably null
R8679:Rabep2	UTSW	7	126,034,848 (GRCm39)	nonsense	probably null
R9022:Rabep2	UTSW	7	126,043,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGGTCTCTTAATATGGTACCTGG -3'
(R):5'- AAGCTGGAATTCTTGTTATGGC -3'

Sequencing Primer
(F):5'- AGGTGAGCACTTTACCATCTGAGC -3'
(R):5'- ATGGCTATTGTCACTTTCGCTATGAC -3'

Posted On

2016-07-06