Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Rapgef4'

527564

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

044802-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

R6683 (G1)

Quality Score

82.0076

Status

Not validated

Chromosome

Chromosomal Location

71811584-72087818 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 71885123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099759 (fasta)

Gene Model

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

AlphaFold

Q9EQZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000028525

SMART Domains

Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044

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

probably benign
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 benign
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: ENSMUST00000124004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150234

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,321,604 (GRCm39)	E169G	possibly damaging	Het
Acat2	G	A	17: 13,162,814 (GRCm39)	R377C	probably benign	Het
Adgrg6	A	G	10: 14,331,911 (GRCm39)	V398A	probably damaging	Het
BC025920	A	G	10: 81,445,135 (GRCm39)	H86R	probably damaging	Het
BC028528	T	C	3: 95,795,539 (GRCm39)	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,145,112 (GRCm39)	T347S	probably benign	Het
Dhcr7	T	C	7: 143,397,048 (GRCm39)	V180A	probably damaging	Het
Fam187a	T	C	11: 102,777,015 (GRCm39)	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,550,101 (GRCm39)	R78W	possibly damaging	Het
Krt8	T	C	15: 101,906,439 (GRCm39)	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,339,354 (GRCm39)		probably benign	Het
Ly6d	A	T	15: 74,634,299 (GRCm39)	V97D	probably benign	Het
Map3k13	T	C	16: 21,711,062 (GRCm39)	I115T	probably benign	Het
Muc2	G	A	7: 141,305,214 (GRCm39)	V173I	probably benign	Het
Nck2	T	C	1: 43,608,338 (GRCm39)	S327P	probably benign	Het
Ncoa7	T	C	10: 30,647,717 (GRCm39)	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,347,009 (GRCm39)	T83I	probably benign	Het
Nploc4	A	G	11: 120,274,156 (GRCm39)	S546P	probably damaging	Het
Or1e1d-ps1	A	G	11: 73,818,939 (GRCm39)	Y36C	probably damaging	Het
Or51g2	C	T	7: 102,622,920 (GRCm39)	R93Q	probably benign	Het
Or52e8	C	T	7: 104,625,175 (GRCm39)	V10I	probably benign	Het
Or5b21	A	G	19: 12,840,014 (GRCm39)	S292G	probably damaging	Het
Panx1	T	C	9: 14,919,307 (GRCm39)	E184G	probably benign	Het
Parp14	T	C	16: 35,655,047 (GRCm39)	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,628,513 (GRCm39)	S21C	probably benign	Het
Ppil6	A	G	10: 41,374,427 (GRCm39)	N103D	probably benign	Het
Pth1r	C	T	9: 110,556,319 (GRCm39)		probably null	Het
Rlf	A	G	4: 121,005,123 (GRCm39)	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,410,822 (GRCm39)	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,085,896 (GRCm39)	M117T	probably benign	Het
St8sia4	T	C	1: 95,581,424 (GRCm39)	D106G	probably damaging	Het
Tjp2	A	G	19: 24,098,207 (GRCm39)	I485T	probably damaging	Het
Trdc	T	C	14: 54,381,692 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,541,004 (GRCm39)	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,187,224 (GRCm39)	K799N	probably damaging	Het
Zfp42	G	A	8: 43,749,093 (GRCm39)	T136M	possibly damaging	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	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
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
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'- ACACACATCCTGTTGGCTGG -3'
(R):5'- TGAACAGCACAGTGTACATCAG -3'

Sequencing Primer
(F):5'- CTGATTCTTTTAGACCAAGCGG -3'
(R):5'- AGTGTACATCAGTGACAGGTCCC -3'

Posted On

2018-07-23