Mutagenetix > Incidental Mutation

Incidental Mutation 'R9493:Rapgef2'

717048

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78969823-79193824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79019495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 59 (L59F)

Ref Sequence

ENSEMBL: ENSMUSP00000114119 (fasta)

Gene Model

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

AlphaFold

Q8CHG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000118100
AA Change: L59F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: L59F

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 damaging
Transcript: ENSMUST00000118340
AA Change: L57F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: L57F

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 damaging
Transcript: ENSMUST00000195708
AA Change: L207F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: L207F

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: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,191 (GRCm39)	Y799H	probably damaging	Het
Akap5	G	A	12: 76,375,041 (GRCm39)	A158T	probably damaging	Het
Aox4	A	G	1: 58,286,434 (GRCm39)	K689E	probably benign	Het
Arid1b	G	A	17: 5,046,423 (GRCm39)	A404T	unknown	Het
Bltp1	A	G	3: 37,065,885 (GRCm39)	N53S		Het
Camk2b	T	A	11: 5,929,711 (GRCm39)	D396V	probably damaging	Het
Cd53	T	A	3: 106,674,683 (GRCm39)	D128V	probably null	Het
Cdk15	G	T	1: 59,326,943 (GRCm39)	R208L	probably damaging	Het
Celsr1	T	G	15: 85,785,346 (GRCm39)	K2963Q	probably damaging	Het
Celsr2	A	G	3: 108,301,074 (GRCm39)	S2740P	probably damaging	Het
Clca4b	A	T	3: 144,632,964 (GRCm39)	L162H	probably damaging	Het
Cntn1	A	T	15: 92,189,644 (GRCm39)	T656S	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Dpy19l2	A	G	9: 24,530,459 (GRCm39)	Y507H	probably damaging	Het
Dsc3	A	T	18: 20,122,752 (GRCm39)	C57*	probably null	Het
Gramd1b	A	G	9: 40,217,689 (GRCm39)	Y621H	probably damaging	Het
Ifi207	A	T	1: 173,556,522 (GRCm39)	C739S	probably benign	Het
Il1rap	T	C	16: 26,541,702 (GRCm39)	S648P	probably benign	Het
Ints5	C	T	19: 8,872,686 (GRCm39)	T215I	probably damaging	Het
Itm2c	T	C	1: 85,834,255 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,137,907 (GRCm39)	S870T	probably benign	Het
Lrpprc	A	T	17: 85,015,548 (GRCm39)	F1288I	probably damaging	Het
Megf11	A	T	9: 64,547,376 (GRCm39)	H209L	probably damaging	Het
Mtss1	C	T	15: 58,926,869 (GRCm39)	R69H	probably damaging	Het
Nms	A	T	1: 38,980,982 (GRCm39)	H56L	probably benign	Het
Or4f54	G	A	2: 111,122,736 (GRCm39)	G41D	probably damaging	Het
Or4k36	C	T	2: 111,146,288 (GRCm39)	H155Y	probably damaging	Het
Or56a5	A	T	7: 104,793,497 (GRCm39)	M7K	possibly damaging	Het
Or5t17	T	C	2: 86,833,140 (GRCm39)	S276P	probably benign	Het
Pds5a	G	A	5: 65,792,747 (GRCm39)	R729W	probably damaging	Het
Pskh1	C	T	8: 106,639,598 (GRCm39)	R93*	probably null	Het
Rtn4	G	A	11: 29,691,011 (GRCm39)	V1101I	probably damaging	Het
Sec31b	C	A	19: 44,509,021 (GRCm39)	V653F	probably damaging	Het
Slc10a2	A	G	8: 5,139,047 (GRCm39)	V299A		Het
Slc6a15	A	G	10: 103,229,277 (GRCm39)	I105M	probably benign	Het
Smurf1	A	G	5: 144,833,395 (GRCm39)	V209A		Het
Snapc2	A	G	8: 4,304,591 (GRCm39)	E115G	probably damaging	Het
Sorcs2	T	C	5: 36,199,529 (GRCm39)	E592G	possibly damaging	Het
Spmip6	G	A	4: 41,508,614 (GRCm39)	P17L		Het
Styxl2	T	A	1: 165,926,410 (GRCm39)	K1067N	probably damaging	Het
Tcl1b1	A	T	12: 105,130,823 (GRCm39)	Q102L	probably damaging	Het
Tmc1	T	A	19: 20,801,644 (GRCm39)	N461Y	probably benign	Het
Trim59	C	A	3: 68,945,134 (GRCm39)	G69C	probably damaging	Het
Tubg1	A	G	11: 101,017,003 (GRCm39)	Y435C	probably damaging	Het
Ucp3	A	C	7: 100,131,911 (GRCm39)	H254P	probably benign	Het
Vav2	T	C	2: 27,157,276 (GRCm39)	D842G	probably damaging	Het
Vmn1r203	T	A	13: 22,708,423 (GRCm39)	L68H	probably damaging	Het
Wee2	A	G	6: 40,421,057 (GRCm39)	E49G	probably benign	Het
Zfr	A	G	15: 12,180,706 (GRCm39)		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
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
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'- TCTCATTCTGCCAACTGGTAAC -3'
(R):5'- TGCAGCAGGGTATGGTATCATAG -3'

Sequencing Primer
(F):5'- GCAGCCGTAGAGATGCTTC -3'
(R):5'- GCAGGGTATGGTATCATAGTTCTAAG -3'

Posted On

2022-07-18