Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00488:Rapgef2'

6868

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rapgef2

Ensembl Gene

ENSMUSG00000062232

Gene Name

Rap guanine nucleotide exchange factor (GEF) 2

Synonyms

CNRasGEF, nRapGEP, 5830453M24Rik, RA-GEF-1, Pdzgef1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00488

Quality Score

Status

Chromosome

Chromosomal Location

78969823-79193824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78999332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 480 (E480G)

Ref Sequence

ENSEMBL: ENSMUSP00000114119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118100] [ENSMUST00000118340] [ENSMUST00000195708]

AlphaFold

Q8CHG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118100
AA Change: E480G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: E480G

Domain	Start	End	E-Value	Type
low complexity region	38	62	N/A	INTRINSIC
low complexity region	84	95	N/A	INTRINSIC
cNMP	135	253	2.48e-15	SMART
RasGEFN	267	380	1.3e-31	SMART
PDZ	395	467	1.28e-12	SMART
RA	606	692	7.59e-23	SMART
RasGEF	713	950	6.09e-100	SMART
low complexity region	1030	1046	N/A	INTRINSIC
low complexity region	1110	1124	N/A	INTRINSIC
low complexity region	1140	1161	N/A	INTRINSIC
low complexity region	1392	1405	N/A	INTRINSIC
low complexity region	1440	1455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118340
AA Change: E478G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: E478G

Domain	Start	End	E-Value	Type
low complexity region	36	60	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
cNMP	133	251	2.48e-15	SMART
RasGEFN	265	378	1.3e-31	SMART
PDZ	393	465	1.28e-12	SMART
RA	604	690	7.59e-23	SMART
RasGEF	711	948	6.09e-100	SMART
low complexity region	1028	1044	N/A	INTRINSIC
low complexity region	1108	1122	N/A	INTRINSIC
low complexity region	1138	1159	N/A	INTRINSIC
low complexity region	1390	1403	N/A	INTRINSIC
low complexity region	1438	1453	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195708
AA Change: E628G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: E628G

Domain	Start	End	E-Value	Type
cNMP	24	131	3.9e-4	SMART
low complexity region	186	210	N/A	INTRINSIC
low complexity region	232	243	N/A	INTRINSIC
cNMP	283	401	1.2e-17	SMART
RasGEFN	415	528	6.4e-34	SMART
PDZ	543	615	6.4e-15	SMART
RA	754	840	4.8e-25	SMART
RasGEF	861	1098	3.8e-102	SMART
low complexity region	1178	1194	N/A	INTRINSIC
low complexity region	1258	1272	N/A	INTRINSIC
low complexity region	1288	1309	N/A	INTRINSIC
low complexity region	1540	1553	N/A	INTRINSIC
low complexity region	1588	1603	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a null allele die at mid-gestation exhibiting growth arrest and defects in vascular development, neural tube closure and embryo turning. Homozygotes for another null allele show yolk sac vascular defects, impaired cell physiology and heart, primitive gut, liver and brain formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	A	3: 151,248,478 (GRCm39)	S717T	probably damaging	Het
Bcorl1	T	G	X: 47,494,919 (GRCm39)	V1730G	probably damaging	Het
Cchcr1	A	G	17: 35,839,469 (GRCm39)	D585G	possibly damaging	Het
Dnah6	A	T	6: 73,063,190 (GRCm39)	N2637K	possibly damaging	Het
Erg	C	A	16: 95,170,848 (GRCm39)		probably benign	Het
Mak	C	T	13: 41,209,165 (GRCm39)		probably benign	Het
Max	T	C	12: 76,985,404 (GRCm39)	S132G	probably damaging	Het
Nfam1	T	C	15: 82,907,185 (GRCm39)	Y4C	probably benign	Het
Orc5	G	T	5: 22,721,771 (GRCm39)	D360E	probably damaging	Het
Prkdc	T	A	16: 15,593,711 (GRCm39)		probably null	Het
Ptpn18	G	A	1: 34,502,200 (GRCm39)	R72K	probably damaging	Het
R3hcc1l	A	G	19: 42,552,391 (GRCm39)	I463V	probably benign	Het
Rictor	T	A	15: 6,816,071 (GRCm39)	D1114E	probably damaging	Het
Sestd1	A	G	2: 77,042,796 (GRCm39)	S253P	possibly damaging	Het
Slk	C	T	19: 47,608,148 (GRCm39)	T367I	probably benign	Het
Tasl	T	A	X: 84,931,985 (GRCm39)	Y184N	possibly damaging	Het
Tcirg1	T	G	19: 3,949,108 (GRCm39)	I394L	possibly damaging	Het
Ubn1	T	C	16: 4,899,778 (GRCm39)	S1097P	probably benign	Het
Ugt2b34	T	A	5: 87,040,818 (GRCm39)	H368L	probably damaging	Het
Wdr20rt	T	C	12: 65,272,744 (GRCm39)	V69A	possibly damaging	Het
Wnt16	T	C	6: 22,291,012 (GRCm39)	S147P	probably damaging	Het

Other mutations in Rapgef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Rapgef2	APN	3	78,977,445 (GRCm39)	missense	probably benign	0.43
IGL01448:Rapgef2	APN	3	79,011,269 (GRCm39)	critical splice donor site	probably null
IGL01448:Rapgef2	APN	3	78,976,244 (GRCm39)	missense	probably benign
IGL01928:Rapgef2	APN	3	79,011,270 (GRCm39)	missense	probably damaging	1.00
IGL01973:Rapgef2	APN	3	78,999,116 (GRCm39)	splice site	probably null
IGL02015:Rapgef2	APN	3	78,999,371 (GRCm39)	splice site	probably benign
IGL02498:Rapgef2	APN	3	78,974,060 (GRCm39)	missense	probably damaging	0.97
IGL02631:Rapgef2	APN	3	78,990,533 (GRCm39)	missense	possibly damaging	0.77
IGL02835:Rapgef2	APN	3	79,000,293 (GRCm39)	splice site	probably benign
IGL02887:Rapgef2	APN	3	78,976,187 (GRCm39)	splice site	probably benign
IGL03030:Rapgef2	APN	3	78,981,614 (GRCm39)	critical splice donor site	probably null
IGL03035:Rapgef2	APN	3	79,001,731 (GRCm39)	missense	probably damaging	1.00
IGL03222:Rapgef2	APN	3	78,995,302 (GRCm39)	missense	probably damaging	1.00
IGL03227:Rapgef2	APN	3	78,999,920 (GRCm39)	splice site	probably benign
IGL03326:Rapgef2	APN	3	78,999,140 (GRCm39)	missense	probably damaging	0.96
IGL03335:Rapgef2	APN	3	79,006,492 (GRCm39)	missense	probably damaging	1.00
IGL03384:Rapgef2	APN	3	78,990,853 (GRCm39)	missense	probably damaging	1.00
Bulge	UTSW	3	78,986,439 (GRCm39)	missense	probably benign	0.01
Hai_phat	UTSW	3	78,993,266 (GRCm39)	missense	probably damaging	1.00
R0022:Rapgef2	UTSW	3	78,995,207 (GRCm39)	missense	probably damaging	1.00
R0022:Rapgef2	UTSW	3	78,995,207 (GRCm39)	missense	probably damaging	1.00
R0038:Rapgef2	UTSW	3	78,976,703 (GRCm39)	missense	probably benign	0.00
R0117:Rapgef2	UTSW	3	78,986,484 (GRCm39)	missense	probably benign	0.00
R0225:Rapgef2	UTSW	3	79,011,412 (GRCm39)	missense	probably damaging	0.99
R0723:Rapgef2	UTSW	3	78,986,481 (GRCm39)	missense	probably benign	0.20
R0788:Rapgef2	UTSW	3	79,006,502 (GRCm39)	missense	possibly damaging	0.59
R1311:Rapgef2	UTSW	3	78,990,854 (GRCm39)	missense	probably benign	0.12
R1374:Rapgef2	UTSW	3	78,995,275 (GRCm39)	missense	probably benign	0.08
R1507:Rapgef2	UTSW	3	78,988,600 (GRCm39)	splice site	probably benign
R1523:Rapgef2	UTSW	3	79,000,056 (GRCm39)	missense	probably damaging	1.00
R1753:Rapgef2	UTSW	3	78,996,098 (GRCm39)	missense	possibly damaging	0.65
R1759:Rapgef2	UTSW	3	78,974,038 (GRCm39)	missense	possibly damaging	0.89
R1766:Rapgef2	UTSW	3	79,000,010 (GRCm39)	missense	probably damaging	1.00
R2436:Rapgef2	UTSW	3	78,996,079 (GRCm39)	missense	possibly damaging	0.95
R3033:Rapgef2	UTSW	3	78,981,613 (GRCm39)	critical splice donor site	probably null
R3766:Rapgef2	UTSW	3	78,996,057 (GRCm39)	missense	probably benign	0.01
R4118:Rapgef2	UTSW	3	78,976,194 (GRCm39)	critical splice donor site	probably null
R4416:Rapgef2	UTSW	3	78,976,364 (GRCm39)	nonsense	probably null
R4722:Rapgef2	UTSW	3	78,976,480 (GRCm39)	missense	probably benign	0.00
R4743:Rapgef2	UTSW	3	79,080,375 (GRCm39)	missense	probably damaging	0.99
R4780:Rapgef2	UTSW	3	79,077,076 (GRCm39)	splice site	probably benign
R4825:Rapgef2	UTSW	3	78,990,534 (GRCm39)	missense	probably benign	0.03
R4861:Rapgef2	UTSW	3	78,981,743 (GRCm39)	missense	probably benign	0.01
R4861:Rapgef2	UTSW	3	78,981,743 (GRCm39)	missense	probably benign	0.01
R4900:Rapgef2	UTSW	3	78,981,670 (GRCm39)	missense	probably benign	0.02
R4943:Rapgef2	UTSW	3	78,971,854 (GRCm39)	missense	probably benign	0.00
R5291:Rapgef2	UTSW	3	78,977,366 (GRCm39)	missense	possibly damaging	0.64
R5369:Rapgef2	UTSW	3	78,976,739 (GRCm39)	missense	probably benign	0.00
R5413:Rapgef2	UTSW	3	78,995,173 (GRCm39)	missense	probably damaging	1.00
R5561:Rapgef2	UTSW	3	78,995,950 (GRCm39)	critical splice donor site	probably null
R5568:Rapgef2	UTSW	3	79,011,308 (GRCm39)	missense	probably damaging	1.00
R5642:Rapgef2	UTSW	3	79,002,157 (GRCm39)	missense	probably damaging	1.00
R5783:Rapgef2	UTSW	3	78,995,300 (GRCm39)	missense	probably benign	0.00
R6041:Rapgef2	UTSW	3	78,976,469 (GRCm39)	missense	probably benign	0.00
R6193:Rapgef2	UTSW	3	78,976,751 (GRCm39)	missense	possibly damaging	0.48
R6324:Rapgef2	UTSW	3	78,986,439 (GRCm39)	missense	probably benign	0.01
R6551:Rapgef2	UTSW	3	79,122,342 (GRCm39)	splice site	probably null
R6688:Rapgef2	UTSW	3	78,976,435 (GRCm39)	missense	probably benign	0.03
R6908:Rapgef2	UTSW	3	79,011,370 (GRCm39)	missense	probably benign	0.01
R6913:Rapgef2	UTSW	3	78,993,281 (GRCm39)	missense	probably damaging	1.00
R6933:Rapgef2	UTSW	3	78,993,266 (GRCm39)	missense	probably damaging	1.00
R7086:Rapgef2	UTSW	3	78,993,353 (GRCm39)	missense	probably benign	0.08
R7106:Rapgef2	UTSW	3	78,973,915 (GRCm39)	missense	probably benign
R7228:Rapgef2	UTSW	3	78,976,525 (GRCm39)	missense	probably benign	0.03
R7242:Rapgef2	UTSW	3	78,995,210 (GRCm39)	nonsense	probably null
R7257:Rapgef2	UTSW	3	78,989,934 (GRCm39)	missense	probably damaging	0.99
R7322:Rapgef2	UTSW	3	79,053,130 (GRCm39)	start codon destroyed	probably null	0.02
R7443:Rapgef2	UTSW	3	78,988,531 (GRCm39)	missense	probably damaging	1.00
R7450:Rapgef2	UTSW	3	79,080,366 (GRCm39)	missense	probably benign	0.01
R7472:Rapgef2	UTSW	3	78,976,580 (GRCm39)	missense	probably benign	0.45
R7884:Rapgef2	UTSW	3	78,973,933 (GRCm39)	missense	possibly damaging	0.49
R7954:Rapgef2	UTSW	3	78,977,454 (GRCm39)	nonsense	probably null
R7957:Rapgef2	UTSW	3	79,122,276 (GRCm39)	missense	probably benign	0.27
R8071:Rapgef2	UTSW	3	79,000,343 (GRCm39)	missense	probably damaging	1.00
R8261:Rapgef2	UTSW	3	78,993,325 (GRCm39)	missense	probably benign	0.34
R8268:Rapgef2	UTSW	3	78,993,263 (GRCm39)	missense	probably benign	0.12
R8309:Rapgef2	UTSW	3	78,990,509 (GRCm39)	missense	possibly damaging	0.65
R8505:Rapgef2	UTSW	3	78,986,349 (GRCm39)	nonsense	probably null
R8783:Rapgef2	UTSW	3	79,005,651 (GRCm39)	missense	probably damaging	1.00
R8897:Rapgef2	UTSW	3	79,019,566 (GRCm39)	missense	probably damaging	1.00
R8965:Rapgef2	UTSW	3	78,999,851 (GRCm39)	missense	probably damaging	1.00
R9028:Rapgef2	UTSW	3	78,981,651 (GRCm39)	missense	probably damaging	1.00
R9284:Rapgef2	UTSW	3	79,000,010 (GRCm39)	missense	probably damaging	1.00
R9371:Rapgef2	UTSW	3	79,082,300 (GRCm39)	missense	probably damaging	1.00
R9479:Rapgef2	UTSW	3	79,019,495 (GRCm39)	missense	probably damaging	1.00
R9493:Rapgef2	UTSW	3	79,019,495 (GRCm39)	missense	probably damaging	1.00
R9494:Rapgef2	UTSW	3	79,019,495 (GRCm39)	missense	probably damaging	1.00
R9500:Rapgef2	UTSW	3	78,974,093 (GRCm39)	missense	probably benign
R9657:Rapgef2	UTSW	3	78,999,191 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-04-20