Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01024:Rapgef2'

53508

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 #

IGL01024

Quality Score

Status

Chromosome

Chromosomal Location

78969823-79193824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78977445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1301 (I1301V)

Ref Sequence

ENSEMBL: ENSMUSP00000141542 (fasta)

Gene Model

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

AlphaFold

Q8CHG7

Predicted Effect

probably benign
Transcript: ENSMUST00000118100
AA Change: I1153V

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: I1153V

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: I1151V

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: I1151V

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 benign
Transcript: ENSMUST00000195708
AA Change: I1301V

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: I1301V

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,767,040 (GRCm39)	V209A	probably benign	Het
Abca6	T	A	11: 110,087,968 (GRCm39)	Y1053F	probably benign	Het
Acot12	C	T	13: 91,929,330 (GRCm39)	Q386*	probably null	Het
Adamts16	A	G	13: 70,943,603 (GRCm39)	V336A	probably benign	Het
Ankrd49	A	G	9: 14,694,099 (GRCm39)	F23L	probably damaging	Het
Aspm	A	T	1: 139,405,862 (GRCm39)	H1583L	possibly damaging	Het
Atp6v0a1	A	G	11: 100,939,265 (GRCm39)	I677V	probably benign	Het
Brinp1	A	T	4: 68,680,731 (GRCm39)	W600R	probably damaging	Het
Ccdc185	T	C	1: 182,574,988 (GRCm39)	E567G	possibly damaging	Het
Clip2	T	C	5: 134,539,066 (GRCm39)	D445G	probably damaging	Het
Elp5	T	C	11: 69,859,248 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,570 (GRCm39)	M1V	probably null	Het
Gtf2a1l	A	G	17: 88,978,719 (GRCm39)	K40R	probably damaging	Het
Hdc	A	G	2: 126,445,766 (GRCm39)	V246A	probably benign	Het
Hectd2	T	A	19: 36,583,793 (GRCm39)	F479L	probably damaging	Het
Hipk1	G	T	3: 103,667,952 (GRCm39)	N538K	probably benign	Het
Kif27	T	A	13: 58,436,015 (GRCm39)	E1259D	possibly damaging	Het
Klhdc2	T	A	12: 69,352,610 (GRCm39)	N256K	probably benign	Het
Krt71	C	T	15: 101,645,109 (GRCm39)	A401T	probably damaging	Het
Mapk3	A	T	7: 126,363,946 (GRCm39)	K312*	probably null	Het
Med12l	G	T	3: 58,980,762 (GRCm39)	S365I	probably damaging	Het
Mgam	A	G	6: 40,619,944 (GRCm39)	K11R	probably benign	Het
Nox3	A	T	17: 3,733,290 (GRCm39)	I187N	probably damaging	Het
Nudcd1	T	A	15: 44,284,222 (GRCm39)	M55L	probably benign	Het
Or1a1b	A	T	11: 74,097,481 (GRCm39)	L187Q	probably damaging	Het
Or4f59	A	T	2: 111,872,716 (GRCm39)	F220L	probably benign	Het
Or8b57	A	G	9: 40,004,029 (GRCm39)	S78P	probably damaging	Het
Pard6g	T	C	18: 80,123,037 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,774,217 (GRCm39)	R461H	probably damaging	Het
Ppm1f	C	A	16: 16,741,633 (GRCm39)	T369K	probably benign	Het
Ppp1r16b	C	T	2: 158,582,736 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,935,045 (GRCm39)	I232K	possibly damaging	Het
Prom2	T	C	2: 127,383,059 (GRCm39)	N61S	probably benign	Het
Psmc2	T	C	5: 22,006,196 (GRCm39)		probably benign	Het
Psme2	A	G	14: 55,825,893 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,008,650 (GRCm39)	H655R	probably damaging	Het
Pxdn	A	C	12: 30,037,098 (GRCm39)	N292T	probably damaging	Het
Rnase11	T	C	14: 51,287,321 (GRCm39)	I78V	probably benign	Het
Rpl41	A	G	10: 128,384,246 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,264,103 (GRCm39)	R56Q	possibly damaging	Het
Sis	A	G	3: 72,819,209 (GRCm39)	L1449S	probably damaging	Het
Slc34a2	T	A	5: 53,224,972 (GRCm39)	V371D	possibly damaging	Het
Son	C	A	16: 91,452,798 (GRCm39)	T515K	probably damaging	Het
Tbx15	A	T	3: 99,223,562 (GRCm39)	D250V	probably damaging	Het
Thoc2l	T	G	5: 104,669,612 (GRCm39)	V1378G	probably benign	Het
Tmem171	T	A	13: 98,823,026 (GRCm39)		probably null	Het
Ugt2b36	C	T	5: 87,228,728 (GRCm39)		probably null	Het
Vill	G	A	9: 118,899,418 (GRCm39)		probably null	Het
Vmn2r22	A	G	6: 123,615,012 (GRCm39)	F193L	probably damaging	Het
Vmn2r95	C	T	17: 18,672,590 (GRCm39)		probably benign	Het
Vstm2a	T	A	11: 16,231,874 (GRCm39)	V223D	possibly damaging	Het

Other mutations in Rapgef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Rapgef2	APN	3	78,999,332 (GRCm39)	missense	possibly damaging	0.89
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

2013-06-28