Mutagenetix > Incidental Mutation

Incidental Mutation 'R7954:Rapgef2'

649706

Institutional Source

Beutler Lab

Gene Symbol

Rapgef2

Ensembl Gene

ENSMUSG00000062232

Gene Name

Rap guanine nucleotide exchange factor (GEF) 2

Synonyms

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

MMRRC Submission

045998-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78969823-79193824 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 78977454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1150 (R1150*)

Ref Sequence

ENSEMBL: ENSMUSP00000114119 (fasta)

Gene Model

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

AlphaFold

Q8CHG7

Predicted Effect

probably null
Transcript: ENSMUST00000118100
AA Change: R1150*

SMART Domains

Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: R1150*

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
AA Change: R1148*

SMART Domains

Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: R1148*

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
AA Change: R1298*

SMART Domains

Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: R1298*

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,903,169 (GRCm39)	C409Y	possibly damaging	Het
Acsm2	C	T	7: 119,179,952 (GRCm39)	T390I	probably damaging	Het
Adam20	T	C	8: 41,249,581 (GRCm39)	Y564H	probably damaging	Het
Adcy6	A	G	15: 98,494,773 (GRCm39)		probably null	Het
Alms1	T	C	6: 85,598,144 (GRCm39)	V990A	probably damaging	Het
Anapc2	T	A	2: 25,164,712 (GRCm39)	V318E	probably damaging	Het
Ano6	G	T	15: 95,863,702 (GRCm39)	A741S	possibly damaging	Het
Apc	A	G	18: 34,447,321 (GRCm39)	S1406G	probably damaging	Het
Cemip2	T	A	19: 21,770,264 (GRCm39)	I84N	probably damaging	Het
Cfi	G	A	3: 129,662,234 (GRCm39)		probably null	Het
Clcn1	A	T	6: 42,263,625 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Dnmbp	A	T	19: 43,890,742 (GRCm39)	W342R	probably benign	Het
Dok5	T	A	2: 170,674,993 (GRCm39)		probably null	Het
Eno3	T	C	11: 70,552,006 (GRCm39)	I284T	probably benign	Het
Ep400	T	C	5: 110,816,599 (GRCm39)	T2767A	possibly damaging	Het
Epb41l4b	A	G	4: 57,088,034 (GRCm39)	V162A	probably damaging	Het
Fat3	A	G	9: 15,909,708 (GRCm39)	I2098T	probably damaging	Het
Fbxl13	T	C	5: 21,748,767 (GRCm39)	N384S	probably benign	Het
Fbxo9	A	G	9: 78,008,826 (GRCm39)	L78P	probably benign	Het
Glis1	G	A	4: 107,476,854 (GRCm39)	R525H	possibly damaging	Het
Gpr15	T	G	16: 58,539,047 (GRCm39)	D14A	probably benign	Het
Gpr156	T	C	16: 37,807,920 (GRCm39)	I189T	probably damaging	Het
H6pd	T	C	4: 150,067,283 (GRCm39)	I376V	probably benign	Het
Hs6st3	T	C	14: 120,106,522 (GRCm39)	V310A	probably damaging	Het
Htr1b	A	G	9: 81,513,998 (GRCm39)	L203P	probably damaging	Het
Kif26b	A	T	1: 178,696,944 (GRCm39)	I531F	probably damaging	Het
Krtcap3	T	C	5: 31,410,015 (GRCm39)	L166P	probably damaging	Het
Lmod1	A	C	1: 135,252,794 (GRCm39)	D16A	probably damaging	Het
Lrp2	T	G	2: 69,333,867 (GRCm39)	N1458T	possibly damaging	Het
Mocs1	G	A	17: 49,761,799 (GRCm39)	G631E	possibly damaging	Het
Nop14	G	A	5: 34,807,729 (GRCm39)	P411L	probably benign	Het
Nr2f1	A	C	13: 78,338,113 (GRCm39)	D334E	probably damaging	Het
Or5al7	A	G	2: 85,993,212 (GRCm39)	L27P	probably damaging	Het
Or5p51	T	C	7: 107,444,119 (GRCm39)	N274D	probably benign	Het
Paqr9	G	A	9: 95,442,681 (GRCm39)	V224M	probably damaging	Het
Pkd2l1	T	C	19: 44,142,651 (GRCm39)	T464A	probably benign	Het
Prss58	T	C	6: 40,872,543 (GRCm39)	R188G	possibly damaging	Het
Rgs22	A	C	15: 36,082,148 (GRCm39)	F653V	possibly damaging	Het
Spata2	T	C	2: 167,325,857 (GRCm39)	T321A	probably benign	Het
St3gal1	A	T	15: 66,984,422 (GRCm39)	F118I	probably damaging	Het
Styxl2	C	T	1: 165,926,849 (GRCm39)	S921N	probably benign	Het
Tasor	T	C	14: 27,169,481 (GRCm39)		probably null	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tll1	G	A	8: 64,571,568 (GRCm39)	T171I	probably damaging	Het
Umodl1	A	T	17: 31,205,361 (GRCm39)	Q652L	probably benign	Het
Usp54	A	G	14: 20,611,981 (GRCm39)	L945P	probably benign	Het
Vars1	A	G	17: 35,234,960 (GRCm39)	H1263R	probably benign	Het
Vmn1r202	A	T	13: 22,685,871 (GRCm39)	M182K	probably benign	Het
Vmn1r78	T	A	7: 11,887,227 (GRCm39)	C279*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAAGGAACAGACGCTTACC -3'
(R):5'- ACCAAGAGTGCGTAACAATAGATAC -3'

Sequencing Primer
(F):5'- ACCCTAAGCTGTATTGATCAGGC -3'
(R):5'- GCGTAACAATAGATACTTTTCTCACC -3'

Posted On

2020-09-15