Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00858:Rapgef4'

13752

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rapgef4

Ensembl Gene

ENSMUSG00000049044

Gene Name

Rap guanine nucleotide exchange factor (GEF) 4

Synonyms

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

IGL00858

Quality Score

Status

Chromosome

Chromosomal Location

71811584-72087818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72029241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 438 (I438F)

Ref Sequence

ENSEMBL: ENSMUSP00000099759 (fasta)

Gene Model

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

AlphaFold

Q9EQZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028525
AA Change: I312F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
AA Change: I312F

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 damaging
Transcript: ENSMUST00000090826
AA Change: I456F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: I456F

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 damaging
Transcript: ENSMUST00000102698
AA Change: I438F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: I438F

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,967,537 (GRCm39)	V988M	probably damaging	Het
Afap1l1	G	A	18: 61,869,925 (GRCm39)	T635M	probably benign	Het
B4galnt1	A	G	10: 127,003,633 (GRCm39)	T199A	probably benign	Het
Ccdc183	T	A	2: 25,499,783 (GRCm39)	M378L	probably benign	Het
Ccser1	C	A	6: 61,787,649 (GRCm39)	S134*	probably null	Het
Cluh	A	G	11: 74,550,431 (GRCm39)	K248E	possibly damaging	Het
Cpa6	T	A	1: 10,554,219 (GRCm39)	R129S	probably damaging	Het
Cyp2c29	T	A	19: 39,296,100 (GRCm39)	V138D	probably damaging	Het
Cyp4f14	A	G	17: 33,130,692 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,545,720 (GRCm39)	N841S	possibly damaging	Het
Dtwd2	A	T	18: 49,861,452 (GRCm39)	I98N	probably damaging	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Ifi44	T	A	3: 151,455,217 (GRCm39)	M3L	probably benign	Het
Mtch1	C	T	17: 29,559,430 (GRCm39)	D74N	probably damaging	Het
Nav3	A	G	10: 109,578,493 (GRCm39)	V1588A	probably damaging	Het
Pbk	T	C	14: 66,049,373 (GRCm39)		probably benign	Het
Ptcd1	A	T	5: 145,088,092 (GRCm39)		probably benign	Het
Tas2r113	C	A	6: 132,870,115 (GRCm39)	R48S	probably benign	Het
Tektl1	T	C	10: 78,586,403 (GRCm39)	D216G	probably damaging	Het
Tnn	C	T	1: 159,915,962 (GRCm39)		probably null	Het
Tnnt2	G	A	1: 135,779,440 (GRCm39)	V277I	probably damaging	Het
Twnk	G	T	19: 44,996,065 (GRCm39)	W166L	probably benign	Het
Utp20	G	A	10: 88,644,987 (GRCm39)	L580F	possibly damaging	Het
Utp20	T	A	10: 88,645,000 (GRCm39)	E575D	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
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
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

Posted On

2012-12-06