Mutagenetix > Incidental Mutation

Incidental Mutation 'R5574:Rapgef4'

ID

437086

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

043129-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

question?

Stock #

R5574 (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: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,380,205 (GRCm39)	N31I	possibly damaging	Het
Acvr1b	T	A	15: 101,099,958 (GRCm39)	M304K	probably benign	Het
Adamts1	G	T	16: 85,596,530 (GRCm39)	D106E	probably damaging	Het
Atosa	A	T	9: 74,917,672 (GRCm39)	D757V	probably damaging	Het
Blm	C	A	7: 80,149,521 (GRCm39)	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,267,119 (GRCm39)		noncoding transcript	Het
Ccdc171	A	T	4: 83,611,990 (GRCm39)	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,870,527 (GRCm39)		probably benign	Het
Cfap97	T	C	8: 46,623,179 (GRCm39)	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,684,509 (GRCm39)		probably benign	Het
Clns1a	A	G	7: 97,370,165 (GRCm39)		probably benign	Het
Col8a2	G	A	4: 126,205,061 (GRCm39)		probably benign	Het
Cr2	T	A	1: 194,823,544 (GRCm39)	E721V	probably damaging	Het
Csk	A	G	9: 57,536,584 (GRCm39)	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,520,165 (GRCm39)	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 33,148,179 (GRCm39)	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,147,685 (GRCm39)	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,063,994 (GRCm39)	T113S	probably benign	Het
Edem2	T	C	2: 155,558,075 (GRCm39)	E186G	probably damaging	Het
Eya2	G	A	2: 165,605,736 (GRCm39)	R380H	probably damaging	Het
Gldn	A	G	9: 54,220,206 (GRCm39)	T132A	probably damaging	Het
Gm13941	A	T	2: 110,930,951 (GRCm39)	I74K	unknown	Het
Gm3898	C	T	9: 43,741,339 (GRCm39)		noncoding transcript	Het
Ighmbp2	C	T	19: 3,321,536 (GRCm39)	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,864 (GRCm39)	L127F	possibly damaging	Het
Letm1	G	A	5: 33,926,730 (GRCm39)	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,775,355 (GRCm39)	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,671,219 (GRCm39)	V2000E	probably damaging	Het
Mettl9	A	T	7: 120,647,093 (GRCm39)	E66D	probably benign	Het
Mroh1	T	A	15: 76,318,131 (GRCm39)	V877D	probably benign	Het
Mycbp2	C	T	14: 103,380,203 (GRCm39)	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,573,859 (GRCm39)	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Obp2a	A	T	2: 25,590,842 (GRCm39)	T70S	possibly damaging	Het
Or4a72	C	T	2: 89,405,321 (GRCm39)	V250I	possibly damaging	Het
Or52a5b	T	G	7: 103,417,323 (GRCm39)	I94L	possibly damaging	Het
Or5al6	T	C	2: 85,976,535 (GRCm39)	D181G	probably damaging	Het
Or8b8	A	T	9: 37,808,877 (GRCm39)	Y59F	probably damaging	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pate2	A	G	9: 35,597,411 (GRCm39)		probably benign	Het
Pdzph1	A	G	17: 59,280,942 (GRCm39)	F447L	probably benign	Het
Pias1	A	G	9: 62,827,775 (GRCm39)	C211R	probably damaging	Het
Plb1	A	G	5: 32,487,291 (GRCm39)	S929G	probably benign	Het
Pramel32	T	G	4: 88,546,280 (GRCm39)	E354A	probably benign	Het
Prc1	G	A	7: 79,944,290 (GRCm39)		probably benign	Het
Prex2	A	G	1: 11,210,282 (GRCm39)	D574G	probably damaging	Het
Rmc1	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,318,063 (GRCm39)		probably null	Het
Rock2	T	C	12: 17,011,642 (GRCm39)	M690T	possibly damaging	Het
Sinhcaf	C	T	6: 148,846,378 (GRCm39)		probably benign	Het
Slc18a2	A	G	19: 59,249,837 (GRCm39)	I25V	probably benign	Het
Slc9a5	T	A	8: 106,091,323 (GRCm39)	I701K	probably benign	Het
Sorcs1	T	A	19: 50,210,571 (GRCm39)	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,340,941 (GRCm39)	I698L	probably benign	Het
Stam	A	G	2: 14,120,675 (GRCm39)	D58G	probably damaging	Het
Thsd4	C	A	9: 59,879,683 (GRCm39)	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,929,998 (GRCm39)	T2911A	probably benign	Het
Trpm7	A	C	2: 126,654,950 (GRCm39)	F1329L	probably benign	Het
Ttll9	A	G	2: 152,826,168 (GRCm39)	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Unc45a	G	A	7: 79,984,604 (GRCm39)	A232V	probably damaging	Het
Utp14b	G	A	1: 78,644,126 (GRCm39)	V675M	probably damaging	Het
Vmn2r67	T	A	7: 84,801,099 (GRCm39)	H279L	probably benign	Het
Vmn2r75	G	T	7: 85,815,510 (GRCm39)	A118E	probably benign	Het
Wdr36	A	T	18: 32,999,012 (GRCm39)	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,555,125 (GRCm39)	Y27*	probably null	Het
Zfp715	A	T	7: 42,960,463 (GRCm39)	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,286,698 (GRCm39)	S2297P	possibly damaging	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
R5575: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