Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01314:Rapgef3'

73788

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rapgef3

Ensembl Gene

ENSMUSG00000022469

Gene Name

Rap guanine nucleotide exchange factor (GEF) 3

Synonyms

2310016P22Rik, 9330170P05Rik, Epac1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

97744770-97767972 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97748223 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 132 (F132S)

Ref Sequence

ENSEMBL: ENSMUSP00000135317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126854] [ENSMUST00000128775] [ENSMUST00000129223] [ENSMUST00000134885] [ENSMUST00000175894] [ENSMUST00000177352]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125002

Predicted Effect

probably damaging
Transcript: ENSMUST00000126854
AA Change: F842S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: F842S

Domain	Start	End	E-Value	Type
DEP	111	186	2.05e-25	SMART
low complexity region	197	208	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
cNMP	245	364	2.53e-12	SMART
RasGEFN	383	514	7.04e-10	SMART
Blast:RasGEF	547	644	6e-45	BLAST
RasGEF	661	926	7.98e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128775
AA Change: F825S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: F825S

Domain	Start	End	E-Value	Type
DEP	111	186	2.05e-25	SMART
low complexity region	197	208	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
cNMP	245	364	2.53e-12	SMART
RasGEFN	383	514	7.04e-10	SMART
Blast:RasGEF	547	644	7e-45	BLAST
RasGEF	661	909	5.53e-80	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000129223
AA Change: F834S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: F834S

Domain	Start	End	E-Value	Type
DEP	111	186	2.05e-25	SMART
low complexity region	197	208	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
cNMP	245	364	2.53e-12	SMART
RasGEFN	383	514	7.04e-10	SMART
Blast:RasGEF	547	644	6e-45	BLAST
RasGEF	661	918	2.11e-85	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134885
AA Change: F132S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135317
Gene: ENSMUSG00000022469
AA Change: F132S

Domain	Start	End	E-Value	Type
RasGEF	1	216	2.91e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155810

Predicted Effect

probably benign
Transcript: ENSMUST00000175894

Predicted Effect

probably damaging
Transcript: ENSMUST00000177352
AA Change: F800S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: F800S

Domain	Start	End	E-Value	Type
DEP	69	144	2.05e-25	SMART
low complexity region	155	166	N/A	INTRINSIC
low complexity region	188	199	N/A	INTRINSIC
cNMP	203	322	2.53e-12	SMART
RasGEFN	341	472	7.04e-10	SMART
Blast:RasGEF	505	602	3e-45	BLAST
RasGEF	619	884	7.98e-95	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	C	10: 100,573,611	D313E	probably damaging	Het
Adamts12	C	T	15: 11,071,853	A161V	probably benign	Het
Bptf	A	T	11: 107,054,853	V2520E	probably damaging	Het
C87436	T	C	6: 86,457,855	F395S	probably damaging	Het
Capn1	T	C	19: 5,989,984		probably benign	Het
Ceacam5	T	A	7: 17,747,256	Y309*	probably null	Het
Clasp2	A	G	9: 113,906,127	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,849,755	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,834,191	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,102,604	L170P	probably damaging	Het
Ddx28	A	G	8: 106,010,580	F282S	probably damaging	Het
Egf	A	G	3: 129,686,260	I497T	probably benign	Het
Emsy	A	G	7: 98,593,455	V1159A	probably benign	Het
Fam46c	T	C	3: 100,473,174	K89E	probably benign	Het
Hk3	C	A	13: 55,007,063		probably benign	Het
Htt	A	G	5: 34,878,856	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,683,750	S45*	probably null	Het
Irf8	A	G	8: 120,753,380	Y119C	probably damaging	Het
Klk1b4	T	C	7: 44,211,176		probably null	Het
Macf1	A	G	4: 123,486,720	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,141,819	H867L	probably benign	Het
Mgat4e	T	C	1: 134,541,449	T286A	probably damaging	Het
Mug2	T	C	6: 122,081,279	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079	E128D	probably damaging	Het
Olfr1331	G	A	4: 118,869,131	V117I	probably benign	Het
Pds5a	A	G	5: 65,615,294	V1322A	probably benign	Het
Poc1b	C	T	10: 99,129,641	T144I	probably damaging	Het
Prcc	T	A	3: 87,870,080	N196Y	probably damaging	Het
Psma5	G	A	3: 108,279,795	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 139,050,561	L11P	probably damaging	Het
Rgs13	T	G	1: 144,171,441	D14A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tcerg1	C	A	18: 42,573,309	A1017D	probably damaging	Het
Tmem79	T	C	3: 88,332,576	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,790,009	H113N	probably damaging	Het
Vil1	G	A	1: 74,428,238	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,582,964	T187A	probably benign	Het
Zfhx4	T	A	3: 5,413,094	S3590T	probably damaging	Het

Other mutations in Rapgef3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Rapgef3	APN	15	97758059	missense	probably damaging	1.00
IGL01670:Rapgef3	APN	15	97749662	missense	probably benign	0.15
IGL01902:Rapgef3	APN	15	97750300	missense	probably benign	0.32
IGL02137:Rapgef3	APN	15	97750144	missense	probably benign	0.08
IGL02419:Rapgef3	APN	15	97750290	missense	probably benign	0.33
IGL02427:Rapgef3	APN	15	97747136	splice site	probably null
IGL02648:Rapgef3	APN	15	97758392	missense	probably damaging	1.00
IGL02834:Rapgef3	APN	15	97748265	missense	probably damaging	0.98
IGL03389:Rapgef3	APN	15	97749516	missense	probably damaging	1.00
IGL03055:Rapgef3	UTSW	15	97749489	splice site	probably benign
R0394:Rapgef3	UTSW	15	97757819	intron	probably benign
R0538:Rapgef3	UTSW	15	97757817	intron	probably benign
R0744:Rapgef3	UTSW	15	97761585	splice site	probably benign
R1288:Rapgef3	UTSW	15	97759342	missense	probably benign	0.31
R1512:Rapgef3	UTSW	15	97757501	missense	probably benign	0.24
R1676:Rapgef3	UTSW	15	97761182	missense	probably benign	0.35
R1745:Rapgef3	UTSW	15	97750178	missense	probably benign	0.22
R1928:Rapgef3	UTSW	15	97750033	missense	probably damaging	1.00
R2063:Rapgef3	UTSW	15	97766961	missense	probably damaging	1.00
R2067:Rapgef3	UTSW	15	97766961	missense	probably damaging	1.00
R2092:Rapgef3	UTSW	15	97760723	missense	probably damaging	1.00
R4358:Rapgef3	UTSW	15	97748648	missense	probably benign	0.05
R4624:Rapgef3	UTSW	15	97758929	missense	probably damaging	1.00
R4627:Rapgef3	UTSW	15	97758929	missense	probably damaging	1.00
R4727:Rapgef3	UTSW	15	97760600	missense	probably damaging	1.00
R4812:Rapgef3	UTSW	15	97753803	missense	probably benign	0.21
R4928:Rapgef3	UTSW	15	97757375	missense	probably damaging	1.00
R5161:Rapgef3	UTSW	15	97757725	missense	probably damaging	1.00
R5442:Rapgef3	UTSW	15	97758861	missense	probably damaging	0.99
R5652:Rapgef3	UTSW	15	97758437	missense	probably benign	0.00
R5837:Rapgef3	UTSW	15	97757342	splice site	probably benign
R6056:Rapgef3	UTSW	15	97758861	missense	probably damaging	0.99
R6167:Rapgef3	UTSW	15	97767411	unclassified	probably benign
R6694:Rapgef3	UTSW	15	97759984	missense	probably benign	0.03
R7039:Rapgef3	UTSW	15	97761568	missense	probably benign	0.01
R7154:Rapgef3	UTSW	15	97753877	missense	probably benign
R7380:Rapgef3	UTSW	15	97766791	missense	probably benign	0.00
R7655:Rapgef3	UTSW	15	97761209	missense	probably damaging	1.00
R7656:Rapgef3	UTSW	15	97761209	missense	probably damaging	1.00
R7754:Rapgef3	UTSW	15	97757746	missense	probably damaging	1.00
R7849:Rapgef3	UTSW	15	97758390	critical splice donor site	probably null
R7932:Rapgef3	UTSW	15	97758390	critical splice donor site	probably null
R8061:Rapgef3	UTSW	15	97761520	missense	probably benign
RF024:Rapgef3	UTSW	15	97760740	missense	probably benign	0.06
X0011:Rapgef3	UTSW	15	97761473	critical splice donor site	probably null

Posted On

2013-10-07