Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:Rapgef2'

84539

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

79062516-79286517 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 79103962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141542 (fasta)

Gene Model

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

AlphaFold

Q8CHG7

Predicted Effect

probably null
Transcript: ENSMUST00000118100

SMART Domains

Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232

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 null
Transcript: ENSMUST00000118340

SMART Domains

Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232

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

probably null
Transcript: ENSMUST00000195708

SMART Domains

Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,405,847 (GRCm38)	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,633 (GRCm38)		probably benign	Het
2610303G11Rik	T	A	9: 98,186,709 (GRCm38)		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,585,960 (GRCm38)	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,297,164 (GRCm38)	E34K	probably damaging	Het
Alms1	T	A	6: 85,677,899 (GRCm38)	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,428,213 (GRCm38)	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,520,422 (GRCm38)	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,684,185 (GRCm38)	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,393,239 (GRCm38)	L2835P	probably damaging	Het
Ctns	A	T	11: 73,188,722 (GRCm38)	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,771,927 (GRCm38)	R429G	probably damaging	Het
Ddx11	T	C	17: 66,134,137 (GRCm38)	V218A	probably damaging	Het
Eftud2	G	A	11: 102,865,563 (GRCm38)		probably benign	Het
Erich1	G	T	8: 14,078,853 (GRCm38)	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,729,265 (GRCm38)	E215G	probably damaging	Het
Fam184a	G	T	10: 53,698,949 (GRCm38)	A188E	probably benign	Het
Fign	A	G	2: 63,979,688 (GRCm38)	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,349,696 (GRCm38)	S33P	probably damaging	Het
Glb1	A	G	9: 114,450,677 (GRCm38)		probably benign	Het
H2-Q1	T	C	17: 35,323,461 (GRCm38)		probably benign	Het
Helz2	T	C	2: 181,233,977 (GRCm38)	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,474,730 (GRCm38)	E32G	probably damaging	Het
Ints5	C	T	19: 8,895,487 (GRCm38)	P270L	possibly damaging	Het
Itga7	G	T	10: 128,949,468 (GRCm38)	E847*	probably null	Het
Kcns3	A	C	12: 11,091,643 (GRCm38)	S352A	possibly damaging	Het
Kiz	A	G	2: 146,863,801 (GRCm38)	K94E	probably benign	Het
Lin7b	C	T	7: 45,369,200 (GRCm38)	V12M	probably damaging	Het
Myo18b	A	T	5: 112,811,704 (GRCm38)	I1409N	probably damaging	Het
Myo5b	A	G	18: 74,644,090 (GRCm38)	H407R	probably damaging	Het
Nelfa	T	C	5: 33,898,802 (GRCm38)	T506A	probably damaging	Het
Or10p21	A	G	10: 129,011,860 (GRCm38)	T192A	probably damaging	Het
Or4d5	A	T	9: 40,101,082 (GRCm38)	M136K	probably damaging	Het
Or5p72	T	A	7: 108,423,028 (GRCm38)	Y152*	probably null	Het
Or6c69	A	G	10: 129,912,245 (GRCm38)	I11T	possibly damaging	Het
Pclo	A	C	5: 14,676,394 (GRCm38)		probably benign	Het
Pes1	G	A	11: 3,977,979 (GRCm38)	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,740,745 (GRCm38)		probably benign	Het
Reln	A	G	5: 22,040,405 (GRCm38)	V735A	probably benign	Het
Slc2a4	A	G	11: 69,945,076 (GRCm38)	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,210,187 (GRCm38)	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,701,559 (GRCm38)	R918S	probably benign	Het
St3gal4	T	C	9: 35,052,331 (GRCm38)	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864 (GRCm38)		probably null	Het
Stxbp5l	T	C	16: 37,215,979 (GRCm38)	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,630,328 (GRCm38)	T231A	probably benign	Het
Tiparp	G	T	3: 65,552,609 (GRCm38)	G442*	probably null	Het
Tnks	A	G	8: 34,839,982 (GRCm38)	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,996,857 (GRCm38)	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,406,395 (GRCm38)	N388K	probably damaging	Het
Zbed3	A	G	13: 95,336,634 (GRCm38)	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,587,785 (GRCm38)	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,060,733 (GRCm38)	Q176L	possibly damaging	Het

Other mutations in Rapgef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Rapgef2	APN	3	79,092,025 (GRCm38)	missense	possibly damaging	0.89
IGL01024:Rapgef2	APN	3	79,070,138 (GRCm38)	missense	probably benign	0.43
IGL01448:Rapgef2	APN	3	79,068,937 (GRCm38)	missense	probably benign
IGL01928:Rapgef2	APN	3	79,103,963 (GRCm38)	missense	probably damaging	1.00
IGL01973:Rapgef2	APN	3	79,091,809 (GRCm38)	splice site	probably null
IGL02015:Rapgef2	APN	3	79,092,064 (GRCm38)	splice site	probably benign
IGL02498:Rapgef2	APN	3	79,066,753 (GRCm38)	missense	probably damaging	0.97
IGL02631:Rapgef2	APN	3	79,083,226 (GRCm38)	missense	possibly damaging	0.77
IGL02835:Rapgef2	APN	3	79,092,986 (GRCm38)	splice site	probably benign
IGL02887:Rapgef2	APN	3	79,068,880 (GRCm38)	splice site	probably benign
IGL03030:Rapgef2	APN	3	79,074,307 (GRCm38)	critical splice donor site	probably null
IGL03035:Rapgef2	APN	3	79,094,424 (GRCm38)	missense	probably damaging	1.00
IGL03222:Rapgef2	APN	3	79,087,995 (GRCm38)	missense	probably damaging	1.00
IGL03227:Rapgef2	APN	3	79,092,613 (GRCm38)	splice site	probably benign
IGL03326:Rapgef2	APN	3	79,091,833 (GRCm38)	missense	probably damaging	0.96
IGL03335:Rapgef2	APN	3	79,099,185 (GRCm38)	missense	probably damaging	1.00
IGL03384:Rapgef2	APN	3	79,083,546 (GRCm38)	missense	probably damaging	1.00
Bulge	UTSW	3	79,079,132 (GRCm38)	missense	probably benign	0.01
Hai_phat	UTSW	3	79,085,959 (GRCm38)	missense	probably damaging	1.00
R0022:Rapgef2	UTSW	3	79,087,900 (GRCm38)	missense	probably damaging	1.00
R0022:Rapgef2	UTSW	3	79,087,900 (GRCm38)	missense	probably damaging	1.00
R0038:Rapgef2	UTSW	3	79,069,396 (GRCm38)	missense	probably benign	0.00
R0117:Rapgef2	UTSW	3	79,079,177 (GRCm38)	missense	probably benign	0.00
R0225:Rapgef2	UTSW	3	79,104,105 (GRCm38)	missense	probably damaging	0.99
R0723:Rapgef2	UTSW	3	79,079,174 (GRCm38)	missense	probably benign	0.20
R0788:Rapgef2	UTSW	3	79,099,195 (GRCm38)	missense	possibly damaging	0.59
R1311:Rapgef2	UTSW	3	79,083,547 (GRCm38)	missense	probably benign	0.12
R1374:Rapgef2	UTSW	3	79,087,968 (GRCm38)	missense	probably benign	0.08
R1507:Rapgef2	UTSW	3	79,081,293 (GRCm38)	splice site	probably benign
R1523:Rapgef2	UTSW	3	79,092,749 (GRCm38)	missense	probably damaging	1.00
R1753:Rapgef2	UTSW	3	79,088,791 (GRCm38)	missense	possibly damaging	0.65
R1759:Rapgef2	UTSW	3	79,066,731 (GRCm38)	missense	possibly damaging	0.89
R1766:Rapgef2	UTSW	3	79,092,703 (GRCm38)	missense	probably damaging	1.00
R2436:Rapgef2	UTSW	3	79,088,772 (GRCm38)	missense	possibly damaging	0.95
R3033:Rapgef2	UTSW	3	79,074,306 (GRCm38)	critical splice donor site	probably null
R3766:Rapgef2	UTSW	3	79,088,750 (GRCm38)	missense	probably benign	0.01
R4118:Rapgef2	UTSW	3	79,068,887 (GRCm38)	critical splice donor site	probably null
R4416:Rapgef2	UTSW	3	79,069,057 (GRCm38)	nonsense	probably null
R4722:Rapgef2	UTSW	3	79,069,173 (GRCm38)	missense	probably benign	0.00
R4743:Rapgef2	UTSW	3	79,173,068 (GRCm38)	missense	probably damaging	0.99
R4780:Rapgef2	UTSW	3	79,169,769 (GRCm38)	splice site	probably benign
R4825:Rapgef2	UTSW	3	79,083,227 (GRCm38)	missense	probably benign	0.03
R4861:Rapgef2	UTSW	3	79,074,436 (GRCm38)	missense	probably benign	0.01
R4861:Rapgef2	UTSW	3	79,074,436 (GRCm38)	missense	probably benign	0.01
R4900:Rapgef2	UTSW	3	79,074,363 (GRCm38)	missense	probably benign	0.02
R4943:Rapgef2	UTSW	3	79,064,547 (GRCm38)	missense	probably benign	0.00
R5291:Rapgef2	UTSW	3	79,070,059 (GRCm38)	missense	possibly damaging	0.64
R5369:Rapgef2	UTSW	3	79,069,432 (GRCm38)	missense	probably benign	0.00
R5413:Rapgef2	UTSW	3	79,087,866 (GRCm38)	missense	probably damaging	1.00
R5561:Rapgef2	UTSW	3	79,088,643 (GRCm38)	critical splice donor site	probably null
R5568:Rapgef2	UTSW	3	79,104,001 (GRCm38)	missense	probably damaging	1.00
R5642:Rapgef2	UTSW	3	79,094,850 (GRCm38)	missense	probably damaging	1.00
R5783:Rapgef2	UTSW	3	79,087,993 (GRCm38)	missense	probably benign	0.00
R6041:Rapgef2	UTSW	3	79,069,162 (GRCm38)	missense	probably benign	0.00
R6193:Rapgef2	UTSW	3	79,069,444 (GRCm38)	missense	possibly damaging	0.48
R6324:Rapgef2	UTSW	3	79,079,132 (GRCm38)	missense	probably benign	0.01
R6551:Rapgef2	UTSW	3	79,215,035 (GRCm38)	splice site	probably null
R6688:Rapgef2	UTSW	3	79,069,128 (GRCm38)	missense	probably benign	0.03
R6908:Rapgef2	UTSW	3	79,104,063 (GRCm38)	missense	probably benign	0.01
R6913:Rapgef2	UTSW	3	79,085,974 (GRCm38)	missense	probably damaging	1.00
R6933:Rapgef2	UTSW	3	79,085,959 (GRCm38)	missense	probably damaging	1.00
R7086:Rapgef2	UTSW	3	79,086,046 (GRCm38)	missense	probably benign	0.08
R7106:Rapgef2	UTSW	3	79,066,608 (GRCm38)	missense	probably benign
R7228:Rapgef2	UTSW	3	79,069,218 (GRCm38)	missense	probably benign	0.03
R7242:Rapgef2	UTSW	3	79,087,903 (GRCm38)	nonsense	probably null
R7257:Rapgef2	UTSW	3	79,082,627 (GRCm38)	missense	probably damaging	0.99
R7322:Rapgef2	UTSW	3	79,145,823 (GRCm38)	start codon destroyed	probably null	0.02
R7443:Rapgef2	UTSW	3	79,081,224 (GRCm38)	missense	probably damaging	1.00
R7450:Rapgef2	UTSW	3	79,173,059 (GRCm38)	missense	probably benign	0.01
R7472:Rapgef2	UTSW	3	79,069,273 (GRCm38)	missense	probably benign	0.45
R7884:Rapgef2	UTSW	3	79,066,626 (GRCm38)	missense	possibly damaging	0.49
R7954:Rapgef2	UTSW	3	79,070,147 (GRCm38)	nonsense	probably null
R7957:Rapgef2	UTSW	3	79,214,969 (GRCm38)	missense	probably benign	0.27
R8071:Rapgef2	UTSW	3	79,093,036 (GRCm38)	missense	probably damaging	1.00
R8261:Rapgef2	UTSW	3	79,086,018 (GRCm38)	missense	probably benign	0.34
R8268:Rapgef2	UTSW	3	79,085,956 (GRCm38)	missense	probably benign	0.12
R8309:Rapgef2	UTSW	3	79,083,202 (GRCm38)	missense	possibly damaging	0.65
R8505:Rapgef2	UTSW	3	79,079,042 (GRCm38)	nonsense	probably null
R8783:Rapgef2	UTSW	3	79,098,344 (GRCm38)	missense	probably damaging	1.00
R8897:Rapgef2	UTSW	3	79,112,259 (GRCm38)	missense	probably damaging	1.00
R8965:Rapgef2	UTSW	3	79,092,544 (GRCm38)	missense	probably damaging	1.00
R9028:Rapgef2	UTSW	3	79,074,344 (GRCm38)	missense	probably damaging	1.00
R9284:Rapgef2	UTSW	3	79,092,703 (GRCm38)	missense	probably damaging	1.00
R9371:Rapgef2	UTSW	3	79,174,993 (GRCm38)	missense	probably damaging	1.00
R9479:Rapgef2	UTSW	3	79,112,188 (GRCm38)	missense	probably damaging	1.00
R9493:Rapgef2	UTSW	3	79,112,188 (GRCm38)	missense	probably damaging	1.00
R9494:Rapgef2	UTSW	3	79,112,188 (GRCm38)	missense	probably damaging	1.00
R9500:Rapgef2	UTSW	3	79,066,786 (GRCm38)	missense	probably benign
R9657:Rapgef2	UTSW	3	79,091,884 (GRCm38)	missense	probably damaging	0.99

Posted On

2013-11-11