Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01871:Rapgef4'

178723

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rapgef4

Ensembl Gene

ENSMUSG00000049044

Gene Name

Rap guanine nucleotide exchange factor (GEF) 4

Synonyms

cAMP-GEFII, Epac2, 1300003D15Rik, 5730402K07Rik, 6330581N18Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

71981240-72257474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72198360 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 392 (T392A)

Ref Sequence

ENSEMBL: ENSMUSP00000088336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028525] [ENSMUST00000090826] [ENSMUST00000102698]

PDB Structure

CRYSTAL STRUCTURE OF THE REGULATORY DOMAIN OF EPAC2 [X-RAY DIFFRACTION]
STRUCTURE OF THE CAMP RESPONSIVE EXCHANGE FACTOR EPAC2 IN ITS AUTO-INHIBITED STATE [X-RAY DIFFRACTION]
Structure of Epac2 in complex with cyclic-AMP and Rap [X-RAY DIFFRACTION]
Conformational dynamics of exchange protein directly activated by cAMP [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]
Selective activation of Epac1 and Epac2 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028525
AA Change: T248A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
AA Change: T248A

Domain	Start	End	E-Value	Type
DEP	72	147	3.43e-27	SMART
low complexity region	158	167	N/A	INTRINSIC
cNMP	212	331	4.02e-15	SMART
RasGEFN	351	486	3.61e-7	SMART
Blast:RasGEF	534	607	1e-33	BLAST
RasGEF	624	866	8.09e-105	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090826
AA Change: T392A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: T392A

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
cNMP	43	162	4.62e-15	SMART
DEP	216	291	3.43e-27	SMART
low complexity region	302	311	N/A	INTRINSIC
cNMP	356	475	4.02e-15	SMART
RasGEFN	495	630	3.61e-7	SMART
Blast:RasGEF	678	751	2e-33	BLAST
RasGEF	768	1010	8.09e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102698
AA Change: T374A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: T374A

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
cNMP	43	162	4.62e-15	SMART
DEP	198	273	3.43e-27	SMART
low complexity region	284	293	N/A	INTRINSIC
cNMP	338	457	4.02e-15	SMART
RasGEFN	477	612	3.61e-7	SMART
Blast:RasGEF	660	733	2e-33	BLAST
RasGEF	750	992	8.09e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156031

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin granule fusion in pancreatic islet cells during the first phase of cAMP-dependent insulin granule exocytosis. Mice homozygous for a knock-out allele exhibit impaired isoproterenol-induced SR calcium leak and arrhythmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,472,394		probably null	Het
Aqp7	G	A	4: 41,045,321	R20*	probably null	Het
Asxl2	G	T	12: 3,502,112	V1285L	probably benign	Het
Bdp1	A	T	13: 100,066,053	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,688,969	I357F	probably damaging	Het
Clasp1	A	T	1: 118,570,889	I884F	probably damaging	Het
Cpne4	T	G	9: 104,925,757	M200R	possibly damaging	Het
Cyp2d10	T	A	15: 82,403,885	D180V	probably damaging	Het
Dicer1	A	T	12: 104,704,180	V1042D	probably damaging	Het
Dlc1	G	A	8: 36,850,180	T447I	probably damaging	Het
Efl1	T	C	7: 82,763,319	M972T	possibly damaging	Het
Erbin	A	G	13: 103,834,766	S781P	probably damaging	Het
Fam46b	A	G	4: 133,486,309	I164V	possibly damaging	Het
Galnt4	G	A	10: 99,109,241	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gmppa	A	G	1: 75,437,017	I41V	probably damaging	Het
Golga1	C	T	2: 39,050,198		probably benign	Het
H2-Ob	G	T	17: 34,242,545	W86L	probably damaging	Het
Hnrnpr	G	A	4: 136,339,574	R482H	unknown	Het
L2hgdh	T	C	12: 69,722,095	E81G	probably damaging	Het
Mre11a	T	C	9: 14,811,897	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,842,801	T372A	probably benign	Het
Ncapg	T	A	5: 45,688,581	S593R	probably benign	Het
Ndufaf1	C	T	2: 119,658,287	W250*	probably null	Het
Neb	T	C	2: 52,153,069	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,312,674	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,662,355		probably benign	Het
Pitpnm3	T	A	11: 72,056,138	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,134,473		probably benign	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Rhov	G	T	2: 119,270,738	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,860,794		probably benign	Het
Spaca1	T	A	4: 34,040,894	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,289,713	E107G	probably damaging	Het
Timm22	T	C	11: 76,407,437	V78A	probably damaging	Het
Usp47	T	C	7: 112,077,786		probably benign	Het
Utp4	A	C	8: 106,912,317	K419T	probably benign	Het
Zfp410	T	C	12: 84,325,791		probably null	Het

Other mutations in Rapgef4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Rapgef4	APN	2	72256312	missense	possibly damaging	0.75
IGL00858:Rapgef4	APN	2	72198897	missense	probably damaging	1.00
IGL01408:Rapgef4	APN	2	72174841	nonsense	probably null
IGL01673:Rapgef4	APN	2	72241437	missense	probably damaging	0.99
IGL01678:Rapgef4	APN	2	72242225	splice site	probably benign
IGL01725:Rapgef4	APN	2	72174874	missense	probably benign	0.24
IGL01935:Rapgef4	APN	2	72234123	missense	probably benign	0.05
IGL02001:Rapgef4	APN	2	72225052	splice site	probably benign
IGL02041:Rapgef4	APN	2	72198796	missense	probably damaging	1.00
IGL02134:Rapgef4	APN	2	72180061	missense	probably damaging	0.97
IGL02410:Rapgef4	APN	2	72226594	missense	possibly damaging	0.51
IGL02807:Rapgef4	APN	2	72205649	splice site	probably benign
IGL03066:Rapgef4	APN	2	72141179	splice site	probably benign
IGL03282:Rapgef4	APN	2	72205752	splice site	probably benign
IGL03291:Rapgef4	APN	2	72195703	missense	probably damaging	1.00
P0033:Rapgef4	UTSW	2	72137331	intron	probably benign
R0045:Rapgef4	UTSW	2	72198778	missense	possibly damaging	0.80
R0045:Rapgef4	UTSW	2	72198778	missense	possibly damaging	0.80
R0309:Rapgef4	UTSW	2	72226030	missense	probably benign	0.02
R0398:Rapgef4	UTSW	2	72031041	missense	probably damaging	0.99
R0747:Rapgef4	UTSW	2	72223073	missense	possibly damaging	0.66
R1216:Rapgef4	UTSW	2	72208148	missense	possibly damaging	0.51
R1264:Rapgef4	UTSW	2	72031105	missense	possibly damaging	0.48
R1302:Rapgef4	UTSW	2	72045160	missense	probably benign	0.31
R1460:Rapgef4	UTSW	2	72031176	critical splice donor site	probably null
R1483:Rapgef4	UTSW	2	72055026	critical splice donor site	probably null
R1682:Rapgef4	UTSW	2	72226568	missense	possibly damaging	0.80
R1768:Rapgef4	UTSW	2	72225787	splice site	probably benign
R1858:Rapgef4	UTSW	2	72031064	missense	possibly damaging	0.67
R1860:Rapgef4	UTSW	2	72234720	missense	probably benign	0.05
R1952:Rapgef4	UTSW	2	72208127	missense	probably benign	0.07
R2025:Rapgef4	UTSW	2	72242739	missense	probably benign	0.01
R2128:Rapgef4	UTSW	2	72226553	missense	possibly damaging	0.87
R2159:Rapgef4	UTSW	2	72174881	missense	probably damaging	1.00
R2201:Rapgef4	UTSW	2	72045189	missense	probably damaging	0.96
R2883:Rapgef4	UTSW	2	72031125	missense	probably benign
R3015:Rapgef4	UTSW	2	72198373	missense	probably damaging	1.00
R4278:Rapgef4	UTSW	2	72198395	missense	possibly damaging	0.95
R5256:Rapgef4	UTSW	2	72034034	missense	probably damaging	0.97
R5572:Rapgef4	UTSW	2	72034120	critical splice donor site	probably null
R5574:Rapgef4	UTSW	2	72034120	critical splice donor site	probably null
R5575:Rapgef4	UTSW	2	72034120	critical splice donor site	probably null
R5749:Rapgef4	UTSW	2	72242757	missense	probably damaging	1.00
R6007:Rapgef4	UTSW	2	72179949	missense	possibly damaging	0.55
R6084:Rapgef4	UTSW	2	72196278	critical splice donor site	probably null
R6192:Rapgef4	UTSW	2	71981317	missense	probably benign	0.00
R6409:Rapgef4	UTSW	2	72178237	missense	probably benign	0.01
R6683:Rapgef4	UTSW	2	72054779	intron	probably benign
R6774:Rapgef4	UTSW	2	72225775	missense	probably benign	0.01
R6844:Rapgef4	UTSW	2	72234626	missense	probably damaging	0.99
R6999:Rapgef4	UTSW	2	72239125	missense	probably damaging	1.00
R7077:Rapgef4	UTSW	2	72241476	missense	probably damaging	0.96
R7138:Rapgef4	UTSW	2	72198363	missense	probably damaging	1.00
R7275:Rapgef4	UTSW	2	72208101	missense	probably damaging	1.00
R7352:Rapgef4	UTSW	2	72180091	missense	probably damaging	1.00
R7397:Rapgef4	UTSW	2	72205666	missense	probably benign	0.23
R7508:Rapgef4	UTSW	2	72205733	missense	probably benign	0.00
R7620:Rapgef4	UTSW	2	72229078	missense	probably damaging	0.99
R7703:Rapgef4	UTSW	2	72179971	missense	probably benign	0.28
R7770:Rapgef4	UTSW	2	72198395	missense	possibly damaging	0.95
R7814:Rapgef4	UTSW	2	72223117	missense	probably benign
R7868:Rapgef4	UTSW	2	72201137	missense	probably benign	0.11
R8210:Rapgef4	UTSW	2	72226020	missense	probably benign	0.00
X0062:Rapgef4	UTSW	2	72226607	missense	probably benign	0.05

Posted On

2014-05-07