Mutagenetix > Incidental Mutations

Incidental Mutation 'R7154:Rapgef3'

557173

Institutional Source

Beutler Lab

Gene Symbol

Rapgef3

Ensembl Gene

ENSMUSG00000022469

Gene Name

Rap guanine nucleotide exchange factor (GEF) 3

Synonyms

2310016P22Rik, 9330170P05Rik, Epac1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R7154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97744770-97767972 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 97753877 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 578 (H578Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126854] [ENSMUST00000128775] [ENSMUST00000129223] [ENSMUST00000134371] [ENSMUST00000134885] [ENSMUST00000175894] [ENSMUST00000177352]

Predicted Effect

probably benign
Transcript: ENSMUST00000126854
AA Change: H578Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: H578Q

Domain	Start	End	E-Value	Type
DEP	111	186	2.05e-25	SMART
low complexity region	197	208	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
cNMP	245	364	2.53e-12	SMART
RasGEFN	383	514	7.04e-10	SMART
Blast:RasGEF	547	644	6e-45	BLAST
RasGEF	661	926	7.98e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128775
AA Change: H578Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: H578Q

Domain	Start	End	E-Value	Type
DEP	111	186	2.05e-25	SMART
low complexity region	197	208	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
cNMP	245	364	2.53e-12	SMART
RasGEFN	383	514	7.04e-10	SMART
Blast:RasGEF	547	644	7e-45	BLAST
RasGEF	661	909	5.53e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129223
AA Change: H578Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: H578Q

Domain	Start	End	E-Value	Type
DEP	111	186	2.05e-25	SMART
low complexity region	197	208	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
cNMP	245	364	2.53e-12	SMART
RasGEFN	383	514	7.04e-10	SMART
Blast:RasGEF	547	644	6e-45	BLAST
RasGEF	661	918	2.11e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134371

SMART Domains

Protein: ENSMUSP00000122746
Gene: ENSMUSG00000022469

Domain	Start	End	E-Value	Type
Blast:cNMP	1	24	9e-8	BLAST
PDB:3CF6\|E	1	67	5e-12	PDB
Blast:RasGEFN	36	67	2e-15	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000134885

SMART Domains

Protein: ENSMUSP00000135317
Gene: ENSMUSG00000022469

Domain	Start	End	E-Value	Type
RasGEF	1	216	2.91e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175894

Predicted Effect

probably benign
Transcript: ENSMUST00000177352
AA Change: H536Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: H536Q

Domain	Start	End	E-Value	Type
DEP	69	144	2.05e-25	SMART
low complexity region	155	166	N/A	INTRINSIC
low complexity region	188	199	N/A	INTRINSIC
cNMP	203	322	2.53e-12	SMART
RasGEFN	341	472	7.04e-10	SMART
Blast:RasGEF	505	602	3e-45	BLAST
RasGEF	619	884	7.98e-95	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	T	C	13: 70,884,225	F139L	unknown	Het
Adgre1	G	A	17: 57,444,087		probably null	Het
Agap2	A	G	10: 127,091,655	D1135G	probably benign	Het
Akp3	T	C	1: 87,125,224	L45P	probably damaging	Het
Arfgap3	A	T	15: 83,336,704	W71R	probably damaging	Het
Asic3	G	A	5: 24,413,662		probably benign	Het
Asph	A	T	4: 9,630,930	N139K	possibly damaging	Het
Atr	T	A	9: 95,865,045	C127S	probably benign	Het
Auts2	A	T	5: 131,451,893	S255T		Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Cacnb1	A	G	11: 98,005,133	L443P	probably damaging	Het
Cbfa2t3	G	A	8: 122,638,144	Q300*	probably null	Het
Ccer1	A	T	10: 97,694,339	D288V	unknown	Het
Col18a1	G	A	10: 77,072,965	P611S	probably benign	Het
Cpa6	T	A	1: 10,337,469	D281V	possibly damaging	Het
Cyp2e1	A	G	7: 140,770,137	Y245C	probably damaging	Het
Cyp4a31	T	C	4: 115,574,766		probably null	Het
Entpd1	T	C	19: 40,724,986	Y188H	probably damaging	Het
Epb42	T	C	2: 121,033,362	D111G	probably benign	Het
Espl1	A	G	15: 102,324,049	D2064G	probably damaging	Het
Fat3	A	C	9: 15,996,864	V2614G	probably damaging	Het
Fos	A	T	12: 85,474,157	M40L	probably benign	Het
Frmd4b	T	A	6: 97,306,746	E434V	probably damaging	Het
Galnt6	A	T	15: 100,693,464	D586E	probably benign	Het
Gapvd1	T	C	2: 34,725,063	K474R	probably damaging	Het
Gimap8	T	A	6: 48,656,188	F314I	probably damaging	Het
Gm10696	A	G	3: 94,176,219	I95T	probably benign	Het
Gm11639	T	A	11: 104,699,140		probably null	Het
Gm14393	T	G	2: 175,061,783	K110N	probably damaging	Het
Gm4131	C	A	14: 62,480,933	A75S	probably damaging	Het
Heatr6	G	A	11: 83,777,241	V854I	probably benign	Het
Hic2	T	A	16: 17,258,942	M545K	possibly damaging	Het
Ip6k1	A	G	9: 108,045,662	Y331C	probably damaging	Het
Kalrn	C	T	16: 34,212,157		probably null	Het
Kxd1	T	C	8: 70,515,434	K88E	probably damaging	Het
Lrrc37a	A	C	11: 103,502,856	V581G	probably benign	Het
Mex3d	A	T	10: 80,386,750	V224E		Het
Mtx2	T	A	2: 74,876,418	C246S	probably damaging	Het
Mybbp1a	A	G	11: 72,447,642		probably null	Het
Myh6	A	G	14: 54,960,307	I458T	probably benign	Het
Ndufs6	A	G	13: 73,320,292	V96A	possibly damaging	Het
Nemf	A	T	12: 69,316,741		probably null	Het
Notch1	T	C	2: 26,459,938	S2397G	probably benign	Het
Olfr1229	A	G	2: 89,282,860	I91T	probably damaging	Het
Olfr522	T	C	7: 140,162,084	I289V	probably benign	Het
Osbpl1a	T	C	18: 12,768,592	E619G	probably benign	Het
Pfkl	T	C	10: 78,001,455	R95G	probably benign	Het
Plat	T	A	8: 22,778,505	I391K	possibly damaging	Het
Ppp1r21	A	G	17: 88,554,886	H244R	probably damaging	Het
Rnf145	C	A	11: 44,524,995	N12K	probably damaging	Het
Sfxn5	C	T	6: 85,332,423	C100Y	unknown	Het
Sh3rf1	T	A	8: 61,372,714	L581Q	possibly damaging	Het
Sipa1l2	T	C	8: 125,468,339	K887E	probably benign	Het
Stard9	C	A	2: 120,701,314	T2684N	probably benign	Het
Stard9	A	C	2: 120,704,542	Q3760P	probably benign	Het
Stpg2	A	G	3: 139,215,295	E87G	probably benign	Het
Syne2	A	G	12: 76,059,457	Q792R	possibly damaging	Het
Taf7	T	C	18: 37,642,548	D322G	possibly damaging	Het
Tbc1d1	A	G	5: 64,173,813	S112G	possibly damaging	Het
Tbx3	A	G	5: 119,672,028	M5V	possibly damaging	Het
Tmem45b	A	T	9: 31,428,032	I215N	possibly damaging	Het
Tpd52	G	A	3: 8,963,856	Q43*	probably null	Het
Trpa1	T	A	1: 14,882,233	N858I	possibly damaging	Het
Ttc30b	C	T	2: 75,938,061	R116H	possibly damaging	Het
Ttll5	A	G	12: 85,925,764	D767G	probably damaging	Het
Vmn2r3	G	A	3: 64,287,311	T62I	probably benign	Het
Wdr59	A	T	8: 111,458,735	N874K		Het

Other mutations in Rapgef3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Rapgef3	APN	15	97748223	missense	probably damaging	1.00
IGL01339:Rapgef3	APN	15	97758059	missense	probably damaging	1.00
IGL01670:Rapgef3	APN	15	97749662	missense	probably benign	0.15
IGL01902:Rapgef3	APN	15	97750300	missense	probably benign	0.32
IGL02137:Rapgef3	APN	15	97750144	missense	probably benign	0.08
IGL02419:Rapgef3	APN	15	97750290	missense	probably benign	0.33
IGL02427:Rapgef3	APN	15	97747136	splice site	probably null
IGL02648:Rapgef3	APN	15	97758392	missense	probably damaging	1.00
IGL02834:Rapgef3	APN	15	97748265	missense	probably damaging	0.98
IGL03389:Rapgef3	APN	15	97749516	missense	probably damaging	1.00
IGL03055:Rapgef3	UTSW	15	97749489	splice site	probably benign
R0394:Rapgef3	UTSW	15	97757819	intron	probably benign
R0538:Rapgef3	UTSW	15	97757817	intron	probably benign
R0744:Rapgef3	UTSW	15	97761585	splice site	probably benign
R1288:Rapgef3	UTSW	15	97759342	missense	probably benign	0.31
R1512:Rapgef3	UTSW	15	97757501	missense	probably benign	0.24
R1676:Rapgef3	UTSW	15	97761182	missense	probably benign	0.35
R1745:Rapgef3	UTSW	15	97750178	missense	probably benign	0.22
R1928:Rapgef3	UTSW	15	97750033	missense	probably damaging	1.00
R2063:Rapgef3	UTSW	15	97766961	missense	probably damaging	1.00
R2067:Rapgef3	UTSW	15	97766961	missense	probably damaging	1.00
R2092:Rapgef3	UTSW	15	97760723	missense	probably damaging	1.00
R4358:Rapgef3	UTSW	15	97748648	missense	probably benign	0.05
R4624:Rapgef3	UTSW	15	97758929	missense	probably damaging	1.00
R4627:Rapgef3	UTSW	15	97758929	missense	probably damaging	1.00
R4727:Rapgef3	UTSW	15	97760600	missense	probably damaging	1.00
R4812:Rapgef3	UTSW	15	97753803	missense	probably benign	0.21
R4928:Rapgef3	UTSW	15	97757375	missense	probably damaging	1.00
R5161:Rapgef3	UTSW	15	97757725	missense	probably damaging	1.00
R5442:Rapgef3	UTSW	15	97758861	missense	probably damaging	0.99
R5652:Rapgef3	UTSW	15	97758437	missense	probably benign	0.00
R5837:Rapgef3	UTSW	15	97757342	splice site	probably benign
R6056:Rapgef3	UTSW	15	97758861	missense	probably damaging	0.99
R6167:Rapgef3	UTSW	15	97767411	unclassified	probably benign
R6694:Rapgef3	UTSW	15	97759984	missense	probably benign	0.03
R7039:Rapgef3	UTSW	15	97761568	missense	probably benign	0.01
R7380:Rapgef3	UTSW	15	97766791	missense	probably benign	0.00
R7655:Rapgef3	UTSW	15	97761209	missense	probably damaging	1.00
R7656:Rapgef3	UTSW	15	97761209	missense	probably damaging	1.00
R7754:Rapgef3	UTSW	15	97757746	missense	probably damaging	1.00
RF024:Rapgef3	UTSW	15	97760740	missense	probably benign	0.06
X0011:Rapgef3	UTSW	15	97761473	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGATGTGGTAATCCTGCCTC -3'
(R):5'- GGGCCTTGATATCAACCCAC -3'

Sequencing Primer
(F):5'- TGCCTCAATTCAGGGCATGAC -3'
(R):5'- GATATCAACCCACTTTGTTGTGC -3'

Posted On

2019-06-26