Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Rapgef4'

601331

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

045869-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71811584-72087818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72053461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 587 (M587L)

Ref Sequence

ENSEMBL: ENSMUSP00000088336 (fasta)

Gene Model

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

AlphaFold

Q9EQZ6

PDB Structure

Predicted Effect

probably benign
Transcript: ENSMUST00000028525
AA Change: M443L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
AA Change: M443L

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
AA Change: M587L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: M587L

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: M569L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: M569L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (90/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	C	T	4: 124,744,395 (GRCm39)	G20R	not run	Het
Adamts13	A	T	2: 26,886,561 (GRCm39)	M927L	probably benign	Het
Akap6	T	A	12: 53,187,744 (GRCm39)	N1719K	probably benign	Het
Ank3	G	A	10: 69,822,734 (GRCm39)	V468M		Het
Aox1	A	G	1: 58,124,626 (GRCm39)	T956A	probably benign	Het
Ap4m1	T	C	5: 138,173,079 (GRCm39)	V140A	probably benign	Het
Apc	A	G	18: 34,405,592 (GRCm39)	T173A	probably damaging	Het
Bclaf1	A	G	10: 20,210,365 (GRCm39)	T839A	possibly damaging	Het
Btn2a2	T	A	13: 23,666,976 (GRCm39)	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706 (GRCm38)	W1269R	probably damaging	Het
Capn2	G	C	1: 182,319,711 (GRCm39)	P159R	probably damaging	Het
Cblif	C	A	19: 11,727,551 (GRCm39)	P125Q	probably benign	Het
Ccdc134	T	G	15: 82,015,724 (GRCm39)	V68G	probably damaging	Het
Cdh26	A	G	2: 178,111,828 (GRCm39)	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347 (GRCm39)	V373I	probably benign	Het
Clpx	T	C	9: 65,231,583 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 31,020,874 (GRCm39)	Y1145F	probably benign	Het
Ctr9	T	A	7: 110,633,134 (GRCm39)	D127E	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp7b1	G	A	3: 18,151,466 (GRCm39)	S249L	probably benign	Het
D630023F18Rik	T	A	1: 65,155,850 (GRCm39)	D125V	possibly damaging	Het
Dbh	A	T	2: 27,064,860 (GRCm39)	Y357F	probably damaging	Het
Dbp	T	A	7: 45,356,414 (GRCm39)	L175Q	probably benign	Het
Dmwd	A	T	7: 18,814,768 (GRCm39)	T473S	probably benign	Het
Dnah9	T	A	11: 65,896,486 (GRCm39)	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,842,615 (GRCm39)	K498R	probably benign	Het
Dop1b	T	A	16: 93,596,859 (GRCm39)	I1924N	probably damaging	Het
Dsg1a	T	A	18: 20,471,572 (GRCm39)		probably null	Het
Dzank1	T	C	2: 144,364,484 (GRCm39)	T38A	probably damaging	Het
Egfem1	A	G	3: 29,740,940 (GRCm39)	H538R	probably damaging	Het
Entpd1	T	C	19: 40,715,891 (GRCm39)	C353R	probably damaging	Het
Ephx2	C	A	14: 66,347,678 (GRCm39)	C78F	probably benign	Het
Faf2	A	T	13: 54,808,774 (GRCm39)	H388L	probably benign	Het
Fam186a	G	A	15: 99,842,545 (GRCm39)	T1233I	possibly damaging	Het
Gfra2	C	A	14: 71,133,410 (GRCm39)	A80E	probably damaging	Het
Gm17175	T	A	14: 51,811,492 (GRCm39)		probably benign	Het
Gm8180	T	C	14: 44,021,103 (GRCm39)	D35G	possibly damaging	Het
Gpr68	C	T	12: 100,845,302 (GRCm39)	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,718,259 (GRCm39)	L35P	probably damaging	Het
Hspd1	A	C	1: 55,117,803 (GRCm39)	V485G	possibly damaging	Het
Il16	A	G	7: 83,319,348 (GRCm39)	V381A	possibly damaging	Het
Il17rd	G	A	14: 26,822,074 (GRCm39)	C600Y	probably benign	Het
Ins2	C	A	7: 142,233,323 (GRCm39)		probably benign	Het
Iqca1l	G	T	5: 24,750,420 (GRCm39)	Q626K	possibly damaging	Het
Itsn2	T	C	12: 4,708,561 (GRCm39)	I872T	probably benign	Het
Jakmip3	A	T	7: 138,620,858 (GRCm39)	D219V	probably damaging	Het
Jph4	T	C	14: 55,347,192 (GRCm39)	T452A	probably damaging	Het
Kazn	T	C	4: 141,937,481 (GRCm39)	E12G	unknown	Het
Kif20b	A	C	19: 34,928,355 (GRCm39)	S1206R	possibly damaging	Het
Lca5l	A	G	16: 95,963,757 (GRCm39)		probably null	Het
Lgals2	A	T	15: 78,735,533 (GRCm39)	S60R	probably benign	Het
Lrrc37	T	A	11: 103,504,999 (GRCm39)	H2323L	possibly damaging	Het
Map10	A	G	8: 126,398,350 (GRCm39)	E581G	probably benign	Het
Map2k7	G	T	8: 4,293,744 (GRCm39)	R128L	probably benign	Het
Mapk8	G	C	14: 33,132,834 (GRCm39)	S34*	probably null	Het
Mcat	A	G	15: 83,432,110 (GRCm39)	Y253H	probably damaging	Het
Mmp2	T	C	8: 93,576,798 (GRCm39)	L607P	probably benign	Het
Ncor1	A	T	11: 62,224,752 (GRCm39)	V836E	probably damaging	Het
Neb	A	G	2: 52,027,392 (GRCm39)	S7113P	probably damaging	Het
Nphp4	T	C	4: 152,608,729 (GRCm39)	F446L	possibly damaging	Het
Nphp4	G	T	4: 152,628,860 (GRCm39)	D749Y	probably damaging	Het
Or14j4	T	A	17: 37,921,547 (GRCm39)	T32S	probably benign	Het
Or1j10	T	C	2: 36,266,821 (GRCm39)	I11T	possibly damaging	Het
Or4c99	A	G	2: 88,329,416 (GRCm39)		probably benign	Het
Or5k8	T	C	16: 58,644,365 (GRCm39)	K236E	probably damaging	Het
Osbpl11	A	T	16: 33,030,431 (GRCm39)	R220*	probably null	Het
Plrg1	G	A	3: 82,964,144 (GRCm39)	V26M	probably damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,001,686 (GRCm39)	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,462,464 (GRCm39)	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,123,304 (GRCm39)	S38P	possibly damaging	Het
Psg23	A	T	7: 18,340,839 (GRCm39)	*472R	probably null	Het
Rfx3	T	A	19: 27,803,470 (GRCm39)	M247L	probably benign	Het
Rgs7	T	A	1: 174,903,635 (GRCm39)	H463L	probably benign	Het
Riiad1	G	T	3: 94,373,162 (GRCm39)	S106R	probably benign	Het
Rims4	A	C	2: 163,760,548 (GRCm39)	I19S	probably benign	Het
Ros1	A	T	10: 51,972,233 (GRCm39)	M1648K	probably benign	Het
Rrn3	T	C	16: 13,629,453 (GRCm39)	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793 (GRCm39)	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,245,250 (GRCm39)	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 79,425,202 (GRCm39)		probably null	Het
Slc25a16	A	T	10: 62,773,199 (GRCm39)	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,126,597 (GRCm39)		probably benign	Het
Stat5a	T	G	11: 100,765,853 (GRCm39)	L313R	probably damaging	Het
Strap	A	G	6: 137,718,976 (GRCm39)	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,759,316 (GRCm39)	L703R	probably damaging	Het
Trim36	A	T	18: 46,300,691 (GRCm39)	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,666,350 (GRCm39)	D980E	probably damaging	Het
Usp28	T	C	9: 48,915,218 (GRCm39)	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vmn2r66	T	C	7: 84,656,472 (GRCm39)	I181M	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp442	C	T	2: 150,251,402 (GRCm39)	D167N	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
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
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
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'- TGGGATCTGTCATTCTCTGC -3'
(R):5'- ATAACGCACCATGGTGGCAC -3'

Sequencing Primer
(F):5'- TCTGCCTTGCACGTAGC -3'
(R):5'- ACTCATGGAGCTGGAGCACTG -3'

Posted On

2019-11-26