Mutagenetix > Incidental Mutation

Incidental Mutation 'R8481:Rabep1'

657535

Institutional Source

Beutler Lab

Gene Symbol

Rabep1

Ensembl Gene

ENSMUSG00000020817

Gene Name

rabaptin, RAB GTPase binding effector protein 1

Synonyms

neurocrescin, RAB5 effector protein, rabaptin-5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R8481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70844778-70943105 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70887127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 162 (S162P)

Ref Sequence

ENSEMBL: ENSMUSP00000098488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076270] [ENSMUST00000081362] [ENSMUST00000100928] [ENSMUST00000108533] [ENSMUST00000177731] [ENSMUST00000178245] [ENSMUST00000179114]

AlphaFold

O35551

Predicted Effect

probably damaging
Transcript: ENSMUST00000076270
AA Change: S162P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: S162P

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	8.8e-47	PFAM
low complexity region	314	327	N/A	INTRINSIC
Pfam:Rabaptin	461	596	7.6e-39	PFAM
Pfam:Rab5-bind	612	807	5.7e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000081362
AA Change: S162P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: S162P

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	198	2.4e-45	PFAM
low complexity region	274	287	N/A	INTRINSIC
Pfam:Rabaptin	421	556	7.1e-39	PFAM
Pfam:Rab5-bind	572	767	5.2e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100928
AA Change: S162P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: S162P

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	8.3e-47	PFAM
low complexity region	314	327	N/A	INTRINSIC
Pfam:Rabaptin	461	561	2.9e-27	PFAM
Pfam:Rab5-bind	577	772	5.3e-51	PFAM
low complexity region	803	817	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108533
AA Change: S162P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: S162P

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	9	495	2.8e-301	PFAM
Pfam:Rab5-bind	533	841	2e-142	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177731
AA Change: S78P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: S78P

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	5	111	6.2e-47	PFAM
low complexity region	230	243	N/A	INTRINSIC
Pfam:Rabaptin	377	512	5.3e-39	PFAM
Pfam:Rab5-bind	528	723	1.4e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178245
AA Change: S119P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: S119P

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	46	152	8.2e-47	PFAM
low complexity region	271	284	N/A	INTRINSIC
Pfam:Rabaptin	418	553	7e-39	PFAM
Pfam:Rab5-bind	569	764	5.2e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179114
AA Change: S162P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136369
Gene: ENSMUSG00000020817
AA Change: S162P

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	89	195	7.1e-48	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

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

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,556,461	Y380*	probably null	Het
Apob	T	A	12: 7,994,807		probably null	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
BC024139	T	C	15: 76,120,682	D598G	probably damaging	Het
Bpifb9a	T	C	2: 154,269,479	V551A	probably benign	Het
Ccdc88b	A	T	19: 6,854,532	L427Q	probably damaging	Het
Cept1	A	G	3: 106,505,253	V301A	probably benign	Het
Chuk	G	T	19: 44,096,239	H306Q	probably benign	Het
Cryzl1	C	A	16: 91,707,273	E69*	probably null	Het
Cul5	A	T	9: 53,646,823	D160E	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dnah12	A	G	14: 26,853,796	M2954V	probably benign	Het
Dnah5	T	A	15: 28,419,795	D3746E	probably benign	Het
Dnm1	A	G	2: 32,340,478	V108A	probably benign	Het
Dpp9	C	A	17: 56,194,467	D582Y	possibly damaging	Het
Evi2	T	A	11: 79,515,462		probably benign	Het
Got2	T	A	8: 95,888,524		probably benign	Het
Gria2	A	T	3: 80,801,691	H61Q	possibly damaging	Het
Hnrnpa2b1	C	T	6: 51,467,411	V8I	probably benign	Het
Impg2	A	G	16: 56,252,266	I354V	possibly damaging	Het
Letm2	T	C	8: 25,580,359	K421R	possibly damaging	Het
Lrp1	T	C	10: 127,568,910	D1974G	probably damaging	Het
Magi2	A	T	5: 20,389,154	E5D	possibly damaging	Het
Mprip	T	A	11: 59,758,156	Y895*	probably null	Het
Myo5c	T	C	9: 75,301,444	F1679S	probably damaging	Het
Neb	T	C	2: 52,224,585	K4221E	probably damaging	Het
Nek4	A	G	14: 30,964,034	Y308C	probably damaging	Het
Nrsn1	T	C	13: 25,253,615	N110S	probably damaging	Het
Olfr1286	T	A	2: 111,420,649	I101F	possibly damaging	Het
Olfr96	T	A	17: 37,225,404	I93K	probably damaging	Het
Padi2	A	G	4: 140,933,253	Q348R	probably benign	Het
Pdgfrb	C	T	18: 61,065,742	T324I	probably benign	Het
Pon3	C	T	6: 5,221,715	R305H	probably benign	Het
Prlhr	A	G	19: 60,467,687	V147A	possibly damaging	Het
Ptpn21	T	C	12: 98,688,894	T605A	probably benign	Het
Rgs7bp	A	G	13: 105,054,208	S3P	probably damaging	Het
Sec24d	T	A	3: 123,353,424	L677H	probably damaging	Het
Slc13a3	T	C	2: 165,434,038	R263G	probably damaging	Het
Slu7	C	A	11: 43,437,493	L45M	probably damaging	Het
Slu7	T	A	11: 43,437,494	L45Q	probably damaging	Het
Sp140	A	G	1: 85,641,791	D374G	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Tex36	A	T	7: 133,587,460	S128T	probably damaging	Het
Tpbg	T	C	9: 85,844,085	S36P	unknown	Het
Tubgcp2	C	A	7: 140,033,675	D30Y	probably damaging	Het
Vmn1r19	T	C	6: 57,404,947	S162P	probably damaging	Het

Other mutations in Rabep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Rabep1	APN	11	70925781	missense	probably benign	0.00
IGL02022:Rabep1	APN	11	70934559	missense	probably damaging	1.00
IGL02215:Rabep1	APN	11	70923197	nonsense	probably null
IGL02428:Rabep1	APN	11	70917480	missense	probably benign	0.00
IGL02566:Rabep1	APN	11	70917714	missense	probably damaging	1.00
IGL02868:Rabep1	APN	11	70874746	missense	probably benign	0.00
F5770:Rabep1	UTSW	11	70937516	splice site	probably benign
P0042:Rabep1	UTSW	11	70884975	splice site	probably benign
PIT4495001:Rabep1	UTSW	11	70917579	missense	probably damaging	1.00
R0328:Rabep1	UTSW	11	70919207	missense	probably damaging	1.00
R0458:Rabep1	UTSW	11	70886998	splice site	probably null
R0477:Rabep1	UTSW	11	70920907	missense	probably damaging	1.00
R0727:Rabep1	UTSW	11	70900492	nonsense	probably null
R1732:Rabep1	UTSW	11	70904641	missense	probably damaging	1.00
R1837:Rabep1	UTSW	11	70904658	missense	probably damaging	1.00
R2203:Rabep1	UTSW	11	70934574	missense	probably damaging	1.00
R4003:Rabep1	UTSW	11	70917367	missense	probably benign	0.12
R4229:Rabep1	UTSW	11	70908434	missense	probably benign
R4573:Rabep1	UTSW	11	70917751	missense	probably damaging	1.00
R4748:Rabep1	UTSW	11	70908468	missense	probably benign	0.18
R5130:Rabep1	UTSW	11	70904731	missense	probably damaging	1.00
R5182:Rabep1	UTSW	11	70904628	nonsense	probably null
R5379:Rabep1	UTSW	11	70908421	missense	probably damaging	1.00
R5525:Rabep1	UTSW	11	70923146	missense	probably damaging	1.00
R5617:Rabep1	UTSW	11	70917529	missense	probably damaging	1.00
R6283:Rabep1	UTSW	11	70917679	missense	probably damaging	1.00
R6302:Rabep1	UTSW	11	70935121	missense	probably damaging	1.00
R6730:Rabep1	UTSW	11	70940386	missense	possibly damaging	0.88
R6988:Rabep1	UTSW	11	70934537	missense	probably damaging	0.96
R7235:Rabep1	UTSW	11	70940464	missense	probably benign	0.43
R7241:Rabep1	UTSW	11	70939989	missense	probably damaging	1.00
R7453:Rabep1	UTSW	11	70917660	missense	probably damaging	1.00
R7955:Rabep1	UTSW	11	70917441	missense	probably damaging	0.96
R8175:Rabep1	UTSW	11	70884929	missense	probably damaging	1.00
R8314:Rabep1	UTSW	11	70893660	missense	possibly damaging	0.93
R8461:Rabep1	UTSW	11	70884855	missense	possibly damaging	0.56
R8530:Rabep1	UTSW	11	70919242	missense	probably damaging	1.00
R8531:Rabep1	UTSW	11	70908506	missense	probably benign	0.01
R9010:Rabep1	UTSW	11	70919208	missense	probably damaging	1.00
Z1186:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1187:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1188:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1189:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1190:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1191:Rabep1	UTSW	11	70940084	frame shift	probably null
Z1192:Rabep1	UTSW	11	70940084	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAGGTATTTGCCCCGTAAC -3'
(R):5'- GTCATGGAAACCAAGGTATGC -3'

Sequencing Primer
(F):5'- CCCGTAACGTTAGACATGGACTATG -3'
(R):5'- TGCTGTCTAGTGCACAAGGAACTC -3'

Posted On

2021-01-18