Mutagenetix > Incidental Mutation

Incidental Mutation 'R4357:Rabep2'

324611

Institutional Source

Beutler Lab

Gene Symbol

Rabep2

Ensembl Gene

ENSMUSG00000030727

Gene Name

rabaptin, RAB GTPase binding effector protein 2

Synonyms

2610011A08Rik

MMRRC Submission

041109-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R4357 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126027596-126045079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126047397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 753 (I753T)

Ref Sequence

ENSEMBL: ENSMUSP00000032974 (fasta)

Gene Model

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

AlphaFold

Q91WG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032974
AA Change: I753T

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

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: I753T

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 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: ENSMUST00000133300

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151304

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,248,084 (GRCm39)	T65A	possibly damaging	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Ap4m1	A	G	5: 138,171,311 (GRCm39)	E125G	probably damaging	Het
Atp13a2	C	A	4: 140,729,215 (GRCm39)	D599E	probably benign	Het
Brme1	T	C	8: 84,886,221 (GRCm39)	L59P	probably benign	Het
Camkv	G	A	9: 107,825,145 (GRCm39)	G354E	probably benign	Het
Casp8ap2	T	A	4: 32,646,150 (GRCm39)	M1741K	probably benign	Het
Chtf18	T	C	17: 25,938,106 (GRCm39)	D119G	probably benign	Het
Cnga1	T	A	5: 72,775,595 (GRCm39)	D42V	probably damaging	Het
Cysltr2	T	C	14: 73,267,084 (GRCm39)	I209V	probably benign	Het
Defa27	A	T	8: 21,805,608 (GRCm39)	Q16L	probably null	Het
Dnaja3	T	C	16: 4,517,731 (GRCm39)	I321T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif2ak3	T	A	6: 70,861,859 (GRCm39)	I467N	probably damaging	Het
Eif5b	T	A	1: 38,089,339 (GRCm39)	V1105E	probably damaging	Het
Gfod2	T	C	8: 106,444,177 (GRCm39)	N122S	possibly damaging	Het
Gm10803	A	G	2: 93,394,350 (GRCm39)	R41G	unknown	Het
Gm38392	A	T	3: 88,154,741 (GRCm39)	I221N	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hsd17b6	G	T	10: 127,829,637 (GRCm39)		probably null	Het
Ids	C	A	X: 69,389,950 (GRCm39)	G506C	probably damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
Lats2	A	G	14: 57,936,840 (GRCm39)	S550P	probably damaging	Het
Lmo7	A	G	14: 102,125,091 (GRCm39)	R406G	probably null	Het
Lpcat2	C	A	8: 93,599,734 (GRCm39)	P234Q	probably benign	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrfip2	A	G	9: 111,028,755 (GRCm39)	E326G	probably damaging	Het
Megf8	T	A	7: 25,055,174 (GRCm39)	I1969N	probably benign	Het
Mib1	A	G	18: 10,751,844 (GRCm39)	N242S	probably benign	Het
Ngf	A	G	3: 102,427,521 (GRCm39)	E94G	probably benign	Het
Oas2	C	T	5: 120,876,734 (GRCm39)		probably null	Het
Odf2	A	G	2: 29,782,256 (GRCm39)	T75A	probably benign	Het
Or4f60	A	G	2: 111,902,583 (GRCm39)	L115P	probably damaging	Het
Or5w11	T	A	2: 87,458,810 (GRCm39)	M1K	probably null	Het
Pi4ka	T	A	16: 17,185,303 (GRCm39)	I266F	probably benign	Het
Prps2	T	A	X: 166,146,545 (GRCm39)	K176*	probably null	Het
Psmd2	T	G	16: 20,475,402 (GRCm39)	D393E	probably benign	Het
Rara	A	C	11: 98,858,937 (GRCm39)	I129L	probably damaging	Het
Rasgrf2	C	A	13: 92,038,796 (GRCm39)	D1017Y	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Spmip4	T	C	6: 50,551,190 (GRCm39)	T420A	probably benign	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Sptlc1	A	T	13: 53,528,068 (GRCm39)	I32K	probably damaging	Het
Srd5a3	T	A	5: 76,295,547 (GRCm39)	F79Y	probably damaging	Het
Ssrp1	A	T	2: 84,871,495 (GRCm39)	M306L	probably benign	Het
Sulf2	T	C	2: 165,919,497 (GRCm39)	E817G	probably benign	Het
Tiam2	C	A	17: 3,501,128 (GRCm39)	D922E	probably damaging	Het
Tle4	A	G	19: 14,445,625 (GRCm39)	V207A	probably benign	Het
Ttll12	A	T	15: 83,465,958 (GRCm39)	C413S	probably damaging	Het
Usp45	T	A	4: 21,834,350 (GRCm39)	Y809*	probably null	Het
Vmn2r59	G	A	7: 41,661,644 (GRCm39)	P724S	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	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
R4915:Rabep2	UTSW	7	126,044,094 (GRCm39)	missense	probably damaging	1.00
R5176:Rabep2	UTSW	7	126,033,465 (GRCm39)	intron	probably benign
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'- TGCTGTCAAGAAGATACTGGCAG -3'
(R):5'- TCTGCATGGAGTCTGAGGAG -3'

Sequencing Primer
(F):5'- GAGGAAGAAAGTCATGCATTCATTTG -3'
(R):5'- AAGGCATCTGGAACCTGGAGTTTC -3'

Posted On

2015-06-24