Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01666:Rasgrf2'

103310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasgrf2

Ensembl Gene

ENSMUSG00000021708

Gene Name

RAS protein-specific guanine nucleotide-releasing factor 2

Synonyms

Grf2, 6330417G04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

92028519-92268164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92174718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 170 (D170E)

Ref Sequence

ENSEMBL: ENSMUSP00000149731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099326] [ENSMUST00000146492] [ENSMUST00000216219]

AlphaFold

P70392

Predicted Effect

probably damaging
Transcript: ENSMUST00000099326
AA Change: D170E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: D170E

Domain	Start	End	E-Value	Type
PH	23	135	1.29e-16	SMART
IQ	204	226	1.3e0	SMART
RhoGEF	247	428	2.2e-51	SMART
RasGEFN	633	775	9.35e-15	SMART
RasGEFN	786	923	6.04e-9	SMART
RasGEF	949	1186	2.97e-112	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000146492
AA Change: D170E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116203
Gene: ENSMUSG00000021708
AA Change: D170E

Domain	Start	End	E-Value	Type
PH	23	135	1.29e-16	SMART
IQ	204	226	1.3e0	SMART
Pfam:RhoGEF	247	387	1.2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216219
AA Change: D170E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit decreased Il2 and TNF-alpha production in stimulated T cells. Mice homozygous for mutations in both Rasgrf1 and Rasgrf2 exhibit no additional abnormalities than those observed in the Rasgrf1 mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,499,832 (GRCm39)	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,827,954 (GRCm39)	L297F	probably damaging	Het
Chrnd	A	T	1: 87,126,458 (GRCm39)	S513C	possibly damaging	Het
Col24a1	G	A	3: 145,050,447 (GRCm39)	V645M	possibly damaging	Het
Csn3	T	C	5: 88,078,016 (GRCm39)	V174A	unknown	Het
D630039A03Rik	C	T	4: 57,910,570 (GRCm39)	V81I	possibly damaging	Het
Deptor	G	A	15: 55,012,775 (GRCm39)	R54Q	probably damaging	Het
Ell	A	G	8: 71,038,463 (GRCm39)	H400R	probably benign	Het
Fcgbpl1	G	A	7: 27,852,717 (GRCm39)	V1335M	probably damaging	Het
Itga2	A	G	13: 114,973,627 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,336,152 (GRCm39)	I2293V	probably benign	Het
Matcap2	A	G	9: 22,342,994 (GRCm39)	D163G	probably benign	Het
Mmut	T	C	17: 41,269,702 (GRCm39)	L687P	probably damaging	Het
Mrps27	A	G	13: 99,546,324 (GRCm39)	E241G	probably damaging	Het
Myh9	C	T	15: 77,646,131 (GRCm39)	A1951T	probably benign	Het
Oca2	G	A	7: 55,964,559 (GRCm39)		probably null	Het
Or2n1c	C	T	17: 38,519,780 (GRCm39)	L215F	probably benign	Het
Or6d15	T	A	6: 116,559,296 (GRCm39)	I204F	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,274 (GRCm39)	F264L	probably benign	Het
Ptpn23	T	C	9: 110,215,613 (GRCm39)	T1384A	possibly damaging	Het
Rnf20	C	T	4: 49,654,486 (GRCm39)	Q848*	probably null	Het

Other mutations in Rasgrf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Rasgrf2	APN	13	92,159,425 (GRCm39)	splice site	probably benign
IGL01358:Rasgrf2	APN	13	92,130,749 (GRCm39)	missense	probably benign	0.23
IGL01930:Rasgrf2	APN	13	92,130,857 (GRCm39)	missense	probably damaging	0.98
IGL02230:Rasgrf2	APN	13	92,136,145 (GRCm39)	missense	probably damaging	1.00
IGL02630:Rasgrf2	APN	13	92,267,900 (GRCm39)	missense	probably damaging	1.00
IGL02690:Rasgrf2	APN	13	92,167,273 (GRCm39)	missense	probably damaging	1.00
IGL02943:Rasgrf2	APN	13	92,131,752 (GRCm39)	missense	probably damaging	1.00
IGL03067:Rasgrf2	APN	13	92,159,413 (GRCm39)	missense	probably damaging	0.97
IGL03342:Rasgrf2	APN	13	92,136,098 (GRCm39)	missense	probably damaging	1.00
IGL03405:Rasgrf2	APN	13	92,044,170 (GRCm39)	missense	probably damaging	1.00
R0620:Rasgrf2	UTSW	13	92,067,936 (GRCm39)	splice site	probably benign
R0632:Rasgrf2	UTSW	13	92,120,393 (GRCm39)	missense	probably benign	0.00
R0894:Rasgrf2	UTSW	13	92,130,890 (GRCm39)	missense	probably damaging	1.00
R1354:Rasgrf2	UTSW	13	92,165,174 (GRCm39)	missense	probably damaging	1.00
R1400:Rasgrf2	UTSW	13	92,035,808 (GRCm39)	missense	probably damaging	1.00
R1437:Rasgrf2	UTSW	13	92,167,396 (GRCm39)	missense	probably damaging	1.00
R1443:Rasgrf2	UTSW	13	92,131,795 (GRCm39)	missense	probably damaging	1.00
R1522:Rasgrf2	UTSW	13	92,044,205 (GRCm39)	missense	probably benign	0.00
R1553:Rasgrf2	UTSW	13	92,038,783 (GRCm39)	missense	probably damaging	1.00
R1613:Rasgrf2	UTSW	13	92,050,740 (GRCm39)	missense	probably damaging	1.00
R1883:Rasgrf2	UTSW	13	92,117,149 (GRCm39)	missense	probably benign
R1934:Rasgrf2	UTSW	13	92,131,825 (GRCm39)	splice site	probably null
R1990:Rasgrf2	UTSW	13	92,172,473 (GRCm39)	missense	probably damaging	1.00
R2037:Rasgrf2	UTSW	13	92,050,748 (GRCm39)	missense	probably damaging	0.99
R2043:Rasgrf2	UTSW	13	92,167,351 (GRCm39)	missense	possibly damaging	0.91
R2135:Rasgrf2	UTSW	13	92,120,374 (GRCm39)	missense	probably benign
R2193:Rasgrf2	UTSW	13	92,160,221 (GRCm39)	splice site	probably null
R2406:Rasgrf2	UTSW	13	92,120,359 (GRCm39)	missense	probably benign
R3055:Rasgrf2	UTSW	13	92,165,583 (GRCm39)	missense	probably damaging	1.00
R3916:Rasgrf2	UTSW	13	92,167,296 (GRCm39)	missense	probably damaging	1.00
R3954:Rasgrf2	UTSW	13	92,130,974 (GRCm39)	missense	probably damaging	0.98
R3955:Rasgrf2	UTSW	13	92,130,974 (GRCm39)	missense	probably damaging	0.98
R3956:Rasgrf2	UTSW	13	92,130,974 (GRCm39)	missense	probably damaging	0.98
R4133:Rasgrf2	UTSW	13	92,130,773 (GRCm39)	missense	possibly damaging	0.59
R4177:Rasgrf2	UTSW	13	92,038,717 (GRCm39)	missense	probably damaging	1.00
R4178:Rasgrf2	UTSW	13	92,038,717 (GRCm39)	missense	probably damaging	1.00
R4357:Rasgrf2	UTSW	13	92,038,796 (GRCm39)	missense	probably damaging	1.00
R4358:Rasgrf2	UTSW	13	92,038,796 (GRCm39)	missense	probably damaging	1.00
R4359:Rasgrf2	UTSW	13	92,038,796 (GRCm39)	missense	probably damaging	1.00
R4439:Rasgrf2	UTSW	13	92,131,797 (GRCm39)	missense	possibly damaging	0.95
R4440:Rasgrf2	UTSW	13	92,131,797 (GRCm39)	missense	possibly damaging	0.95
R4441:Rasgrf2	UTSW	13	92,131,797 (GRCm39)	missense	possibly damaging	0.95
R4564:Rasgrf2	UTSW	13	92,033,773 (GRCm39)	nonsense	probably null
R4576:Rasgrf2	UTSW	13	92,044,529 (GRCm39)	missense	possibly damaging	0.58
R4590:Rasgrf2	UTSW	13	92,174,789 (GRCm39)	missense	probably damaging	1.00
R4718:Rasgrf2	UTSW	13	92,138,716 (GRCm39)	critical splice donor site	probably null
R4778:Rasgrf2	UTSW	13	92,131,780 (GRCm39)	missense	probably damaging	0.99
R4790:Rasgrf2	UTSW	13	92,136,135 (GRCm39)	missense	probably damaging	1.00
R4808:Rasgrf2	UTSW	13	92,160,190 (GRCm39)	missense	probably damaging	1.00
R5151:Rasgrf2	UTSW	13	92,044,155 (GRCm39)	missense	probably damaging	1.00
R5286:Rasgrf2	UTSW	13	92,267,941 (GRCm39)	missense	possibly damaging	0.94
R5902:Rasgrf2	UTSW	13	92,068,011 (GRCm39)	missense	probably damaging	1.00
R6180:Rasgrf2	UTSW	13	92,165,609 (GRCm39)	missense	probably damaging	1.00
R6264:Rasgrf2	UTSW	13	92,167,293 (GRCm39)	missense	probably damaging	1.00
R6369:Rasgrf2	UTSW	13	92,267,954 (GRCm39)	missense	probably benign
R6428:Rasgrf2	UTSW	13	92,136,100 (GRCm39)	missense	probably damaging	1.00
R6595:Rasgrf2	UTSW	13	92,167,361 (GRCm39)	missense	probably damaging	1.00
R6619:Rasgrf2	UTSW	13	92,165,027 (GRCm39)	missense	probably damaging	1.00
R6988:Rasgrf2	UTSW	13	92,033,754 (GRCm39)	missense	probably benign	0.02
R7026:Rasgrf2	UTSW	13	92,131,732 (GRCm39)	missense	probably damaging	1.00
R7038:Rasgrf2	UTSW	13	92,130,952 (GRCm39)	missense	possibly damaging	0.95
R7045:Rasgrf2	UTSW	13	92,159,100 (GRCm39)	intron	probably benign
R7056:Rasgrf2	UTSW	13	92,167,203 (GRCm39)	missense	probably damaging	0.99
R7058:Rasgrf2	UTSW	13	92,034,521 (GRCm39)	missense	probably damaging	0.99
R7256:Rasgrf2	UTSW	13	92,032,637 (GRCm39)	nonsense	probably null
R7392:Rasgrf2	UTSW	13	92,041,856 (GRCm39)	missense
R7469:Rasgrf2	UTSW	13	92,165,530 (GRCm39)	critical splice donor site	probably null
R7618:Rasgrf2	UTSW	13	92,136,085 (GRCm39)	missense
R7641:Rasgrf2	UTSW	13	92,267,914 (GRCm39)	missense	possibly damaging	0.65
R7674:Rasgrf2	UTSW	13	92,267,914 (GRCm39)	missense	possibly damaging	0.65
R7784:Rasgrf2	UTSW	13	92,044,201 (GRCm39)	missense
R7962:Rasgrf2	UTSW	13	92,167,300 (GRCm39)	missense	probably damaging	0.99
R8056:Rasgrf2	UTSW	13	92,167,321 (GRCm39)	missense	probably damaging	0.97
R8218:Rasgrf2	UTSW	13	92,130,796 (GRCm39)	missense
R8796:Rasgrf2	UTSW	13	92,038,685 (GRCm39)	missense
R8913:Rasgrf2	UTSW	13	92,159,034 (GRCm39)	missense	probably benign	0.05
R8971:Rasgrf2	UTSW	13	92,158,225 (GRCm39)	missense	possibly damaging	0.80
R9020:Rasgrf2	UTSW	13	92,165,146 (GRCm39)	missense	possibly damaging	0.93
R9487:Rasgrf2	UTSW	13	92,267,759 (GRCm39)	missense	probably benign
R9562:Rasgrf2	UTSW	13	92,034,469 (GRCm39)	critical splice donor site	probably null
R9712:Rasgrf2	UTSW	13	92,136,092 (GRCm39)	missense
R9766:Rasgrf2	UTSW	13	92,160,188 (GRCm39)	missense	probably damaging	1.00
R9800:Rasgrf2	UTSW	13	92,267,860 (GRCm39)	missense	probably damaging	0.99
X0013:Rasgrf2	UTSW	13	92,167,363 (GRCm39)	missense	probably damaging	1.00
X0026:Rasgrf2	UTSW	13	92,050,654 (GRCm39)	missense	probably damaging	0.99
Z1177:Rasgrf2	UTSW	13	92,159,081 (GRCm39)	missense	unknown
Z1177:Rasgrf2	UTSW	13	92,131,632 (GRCm39)	missense

Posted On

2014-01-21