Mutagenetix > Incidental Mutation

Incidental Mutation 'R5575:Rapgef4'

ID

437148

Institutional Source

Beutler Lab

Gene Symbol

Rapgef4

Ensembl Gene

ENSMUSG00000049044

Gene Name

Rap guanine nucleotide exchange factor (GEF) 4

Synonyms

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

MMRRC Submission

043130-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

question?

Stock #

R5575 (G1)

Quality Score

225

Status

Validated

Chromosome

2

Chromosomal Location

71811584-72087818 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 71864464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099759 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000090826

SMART Domains

Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044

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 null
Transcript: ENSMUST00000090826

SMART Domains

Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044

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 null
Transcript: ENSMUST00000090826

SMART Domains

Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044

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 null
Transcript: ENSMUST00000102698

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044

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

probably null
Transcript: ENSMUST00000102698

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044

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

probably null
Transcript: ENSMUST00000102698

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044

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

probably null
Transcript: ENSMUST00000102698

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044

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

probably null
Transcript: ENSMUST00000102698

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044

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

probably null
Transcript: ENSMUST00000102698

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044

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: ENSMUST00000149421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150234

Meta Mutation Damage Score

0.9486

question?

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

97% (57/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,916,195 (GRCm39)		probably null	Het
Adrm1	T	G	2: 179,817,509 (GRCm39)	D325E	probably benign	Het
Anapc4	T	A	5: 53,013,213 (GRCm39)	V433E	probably damaging	Het
Aplf	A	C	6: 87,623,129 (GRCm39)	C338G	probably benign	Het
Atad5	A	G	11: 79,991,149 (GRCm39)	T681A	probably benign	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Catsperg2	T	C	7: 29,405,015 (GRCm39)	K81R	possibly damaging	Het
Cep170b	T	A	12: 112,702,066 (GRCm39)	H286Q	probably damaging	Het
Cfap61	G	A	2: 145,859,313 (GRCm39)	V434I	probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col9a3	A	T	2: 180,240,639 (GRCm39)		probably benign	Het
Dsc2	A	T	18: 20,168,447 (GRCm39)	C671S	probably damaging	Het
Eif5	T	C	12: 111,508,740 (GRCm39)	V245A	probably damaging	Het
Epha5	G	A	5: 84,564,361 (GRCm39)	R2W	probably damaging	Het
Gabrb2	G	A	11: 42,420,365 (GRCm39)		probably benign	Het
Gm3453	A	G	14: 5,978,205 (GRCm38)	V66A	possibly damaging	Het
Gna15	T	C	10: 81,359,707 (GRCm39)	I28V	probably damaging	Het
Hk3	A	T	13: 55,162,583 (GRCm39)	D88E	probably damaging	Het
Hmbox1	T	C	14: 65,060,613 (GRCm39)	T375A	probably benign	Het
Ibsp	A	T	5: 104,457,925 (GRCm39)	E154V	possibly damaging	Het
Il7r	A	G	15: 9,508,273 (GRCm39)	S350P	probably benign	Het
Isx	T	C	8: 75,619,429 (GRCm39)	L207P	probably benign	Het
Krt35	T	C	11: 99,985,450 (GRCm39)	E197G	probably damaging	Het
Krt78	G	A	15: 101,855,787 (GRCm39)	Q675*	probably null	Het
Marchf1	T	A	8: 66,920,962 (GRCm39)	V217E	probably damaging	Het
Mertk	T	C	2: 128,578,485 (GRCm39)	I157T	probably damaging	Het
Mmab	A	T	5: 114,574,832 (GRCm39)	L147Q	probably damaging	Het
Ndst4	T	A	3: 125,231,479 (GRCm39)	V16D	probably benign	Het
Niban1	A	T	1: 151,593,991 (GRCm39)	H892L	probably benign	Het
Ogdhl	T	C	14: 32,047,804 (GRCm39)	L18P	possibly damaging	Het
Pikfyve	A	C	1: 65,312,889 (GRCm39)	H2089P	probably damaging	Het
Plxna1	A	T	6: 89,301,523 (GRCm39)	L1501Q	possibly damaging	Het
Ppp2r5c	T	C	12: 110,519,266 (GRCm39)	F246S	probably damaging	Het
Ptbp2	A	T	3: 119,514,432 (GRCm39)		probably null	Het
Ptbp2	G	A	3: 119,514,438 (GRCm39)	P463L	possibly damaging	Het
Rad51	A	G	2: 118,964,914 (GRCm39)	D274G	probably benign	Het
Ranbp2	T	C	10: 58,328,405 (GRCm39)	V2807A	probably damaging	Het
Rp1l1	C	T	14: 64,268,433 (GRCm39)	H1340Y	probably benign	Het
Ryr1	T	A	7: 28,778,118 (GRCm39)	H2133L	possibly damaging	Het
Scgb1c1	G	A	7: 140,426,024 (GRCm39)	G40E	probably damaging	Het
Shank2	T	C	7: 143,963,871 (GRCm39)	I703T	probably damaging	Het
Spag17	G	A	3: 99,961,138 (GRCm39)	A975T	possibly damaging	Het
Supt6	T	C	11: 78,119,787 (GRCm39)	D400G	probably damaging	Het
Synrg	T	C	11: 83,900,378 (GRCm39)		probably null	Het
Thada	A	C	17: 84,723,827 (GRCm39)		probably null	Het
Themis3	A	G	17: 66,862,321 (GRCm39)	S546P	possibly damaging	Het
Tinf2	T	C	14: 55,917,631 (GRCm39)	D286G	probably benign	Het
Tmem67	A	T	4: 12,047,886 (GRCm39)	V815D	possibly damaging	Het
Trpm1	T	C	7: 63,870,018 (GRCm39)	L441P	possibly damaging	Het
Vapa	A	G	17: 65,920,247 (GRCm39)	V16A	probably benign	Het
Vmn2r38	A	T	7: 9,078,635 (GRCm39)	Y582*	probably null	Het
Vps13b	A	T	15: 35,930,065 (GRCm39)	K3934I	probably damaging	Het
Wrn	G	A	8: 33,826,158 (GRCm39)	T168I	probably benign	Het

Other mutations in Rapgef4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Rapgef4	APN	2	72,086,656 (GRCm39)	missense	possibly damaging	0.75
IGL00858:Rapgef4	APN	2	72,029,241 (GRCm39)	missense	probably damaging	1.00
IGL01408:Rapgef4	APN	2	72,005,185 (GRCm39)	nonsense	probably null
IGL01673:Rapgef4	APN	2	72,071,781 (GRCm39)	missense	probably damaging	0.99
IGL01678:Rapgef4	APN	2	72,072,569 (GRCm39)	splice site	probably benign
IGL01725:Rapgef4	APN	2	72,005,218 (GRCm39)	missense	probably benign	0.24
IGL01871:Rapgef4	APN	2	72,028,704 (GRCm39)	missense	possibly damaging	0.69
IGL01935:Rapgef4	APN	2	72,064,467 (GRCm39)	missense	probably benign	0.05
IGL02001:Rapgef4	APN	2	72,055,396 (GRCm39)	splice site	probably benign
IGL02041:Rapgef4	APN	2	72,029,140 (GRCm39)	missense	probably damaging	1.00
IGL02134:Rapgef4	APN	2	72,010,405 (GRCm39)	missense	probably damaging	0.97
IGL02410:Rapgef4	APN	2	72,056,938 (GRCm39)	missense	possibly damaging	0.51
IGL02807:Rapgef4	APN	2	72,035,993 (GRCm39)	splice site	probably benign
IGL03066:Rapgef4	APN	2	71,971,523 (GRCm39)	splice site	probably benign
IGL03282:Rapgef4	APN	2	72,036,096 (GRCm39)	splice site	probably benign
IGL03291:Rapgef4	APN	2	72,026,047 (GRCm39)	missense	probably damaging	1.00
P0033:Rapgef4	UTSW	2	71,967,675 (GRCm39)	intron	probably benign
R0045:Rapgef4	UTSW	2	72,029,122 (GRCm39)	missense	possibly damaging	0.80
R0045:Rapgef4	UTSW	2	72,029,122 (GRCm39)	missense	possibly damaging	0.80
R0309:Rapgef4	UTSW	2	72,056,374 (GRCm39)	missense	probably benign	0.02
R0398:Rapgef4	UTSW	2	71,861,385 (GRCm39)	missense	probably damaging	0.99
R0747:Rapgef4	UTSW	2	72,053,417 (GRCm39)	missense	possibly damaging	0.66
R1216:Rapgef4	UTSW	2	72,038,492 (GRCm39)	missense	possibly damaging	0.51
R1264:Rapgef4	UTSW	2	71,861,449 (GRCm39)	missense	possibly damaging	0.48
R1302:Rapgef4	UTSW	2	71,875,504 (GRCm39)	missense	probably benign	0.31
R1460:Rapgef4	UTSW	2	71,861,520 (GRCm39)	critical splice donor site	probably null
R1483:Rapgef4	UTSW	2	71,885,370 (GRCm39)	critical splice donor site	probably null
R1682:Rapgef4	UTSW	2	72,056,912 (GRCm39)	missense	possibly damaging	0.80
R1768:Rapgef4	UTSW	2	72,056,131 (GRCm39)	splice site	probably benign
R1858:Rapgef4	UTSW	2	71,861,408 (GRCm39)	missense	possibly damaging	0.67
R1860:Rapgef4	UTSW	2	72,065,064 (GRCm39)	missense	probably benign	0.05
R1952:Rapgef4	UTSW	2	72,038,471 (GRCm39)	missense	probably benign	0.07
R2025:Rapgef4	UTSW	2	72,073,083 (GRCm39)	missense	probably benign	0.01
R2128:Rapgef4	UTSW	2	72,056,897 (GRCm39)	missense	possibly damaging	0.87
R2159:Rapgef4	UTSW	2	72,005,225 (GRCm39)	missense	probably damaging	1.00
R2201:Rapgef4	UTSW	2	71,875,533 (GRCm39)	missense	probably damaging	0.96
R2883:Rapgef4	UTSW	2	71,861,469 (GRCm39)	missense	probably benign
R3015:Rapgef4	UTSW	2	72,028,717 (GRCm39)	missense	probably damaging	1.00
R4278:Rapgef4	UTSW	2	72,028,739 (GRCm39)	missense	possibly damaging	0.95
R5256:Rapgef4	UTSW	2	71,864,378 (GRCm39)	missense	probably damaging	0.97
R5572:Rapgef4	UTSW	2	71,864,464 (GRCm39)	critical splice donor site	probably null
R5574:Rapgef4	UTSW	2	71,864,464 (GRCm39)	critical splice donor site	probably null
R5749:Rapgef4	UTSW	2	72,073,101 (GRCm39)	missense	probably damaging	1.00
R6007:Rapgef4	UTSW	2	72,010,293 (GRCm39)	missense	possibly damaging	0.55
R6084:Rapgef4	UTSW	2	72,026,622 (GRCm39)	critical splice donor site	probably null
R6192:Rapgef4	UTSW	2	71,811,661 (GRCm39)	missense	probably benign	0.00
R6409:Rapgef4	UTSW	2	72,008,581 (GRCm39)	missense	probably benign	0.01
R6683:Rapgef4	UTSW	2	71,885,123 (GRCm39)	intron	probably benign
R6774:Rapgef4	UTSW	2	72,056,119 (GRCm39)	missense	probably benign	0.01
R6844:Rapgef4	UTSW	2	72,064,970 (GRCm39)	missense	probably damaging	0.99
R6999:Rapgef4	UTSW	2	72,069,469 (GRCm39)	missense	probably damaging	1.00
R7077:Rapgef4	UTSW	2	72,071,820 (GRCm39)	missense	probably damaging	0.96
R7138:Rapgef4	UTSW	2	72,028,707 (GRCm39)	missense	probably damaging	1.00
R7275:Rapgef4	UTSW	2	72,038,445 (GRCm39)	missense	probably damaging	1.00
R7352:Rapgef4	UTSW	2	72,010,435 (GRCm39)	missense	probably damaging	1.00
R7397:Rapgef4	UTSW	2	72,036,010 (GRCm39)	missense	probably benign	0.23
R7508:Rapgef4	UTSW	2	72,036,077 (GRCm39)	missense	probably benign	0.00
R7620:Rapgef4	UTSW	2	72,059,422 (GRCm39)	missense	probably damaging	0.99
R7703:Rapgef4	UTSW	2	72,010,315 (GRCm39)	missense	probably benign	0.28
R7770:Rapgef4	UTSW	2	72,028,739 (GRCm39)	missense	possibly damaging	0.95
R7814:Rapgef4	UTSW	2	72,053,461 (GRCm39)	missense	probably benign
R7868:Rapgef4	UTSW	2	72,031,481 (GRCm39)	missense	probably benign	0.11
R8210:Rapgef4	UTSW	2	72,056,364 (GRCm39)	missense	probably benign	0.00
R8967:Rapgef4	UTSW	2	72,056,854 (GRCm39)	missense	possibly damaging	0.72
R9113:Rapgef4	UTSW	2	71,861,493 (GRCm39)	missense	probably benign	0.43
R9157:Rapgef4	UTSW	2	72,005,212 (GRCm39)	missense	probably benign	0.06
R9314:Rapgef4	UTSW	2	72,064,983 (GRCm39)	missense	possibly damaging	0.52
R9552:Rapgef4	UTSW	2	72,008,561 (GRCm39)	missense	probably benign
R9578:Rapgef4	UTSW	2	72,026,052 (GRCm39)	missense	probably damaging	1.00
R9620:Rapgef4	UTSW	2	72,036,051 (GRCm39)	missense	probably benign	0.01
R9665:Rapgef4	UTSW	2	72,036,018 (GRCm39)	missense	probably benign	0.17
X0062:Rapgef4	UTSW	2	72,056,951 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CATGGCCAGTGGGGATCTAT -3'
(R):5'- TGTGGTAGACAAGGTCATGAAT -3'

Sequencing Primer
(F):5'- TCAGGTTGCAGTCATCAAACCTG -3'
(R):5'- GCTGGTAATGGTGTAAATACAGTAC -3'

Posted On

2016-10-26