Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02630:Rasgrf2'

301273

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: 0.222) question?

Stock #

IGL02630

Quality Score

Status

Chromosome

Chromosomal Location

92028519-92268164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92267900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 35 (E35K)

Ref Sequence

ENSEMBL: ENSMUSP00000116203 (fasta)

Gene Model

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

AlphaFold

P70392

Predicted Effect

probably damaging
Transcript: ENSMUST00000099326
AA Change: E35K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: E35K

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: E35K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116203
Gene: ENSMUSG00000021708
AA Change: E35K

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: E35K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,441 (GRCm39)	V3575E	probably damaging	Het
Arfgef3	G	A	10: 18,537,140 (GRCm39)		probably benign	Het
Arhgap23	A	G	11: 97,345,123 (GRCm39)	T631A	probably benign	Het
Chka	T	A	19: 3,942,112 (GRCm39)	H355Q	possibly damaging	Het
Ctsj	C	T	13: 61,149,214 (GRCm39)	A277T	probably damaging	Het
Ddx49	T	C	8: 70,753,668 (GRCm39)	D67G	probably damaging	Het
Dennd4b	T	C	3: 90,180,284 (GRCm39)	S716P	probably benign	Het
Enpp5	G	T	17: 44,393,766 (GRCm39)	D321Y	probably damaging	Het
Espl1	A	G	15: 102,205,253 (GRCm39)	E17G	probably benign	Het
Fam161b	G	A	12: 84,400,688 (GRCm39)	P428L	probably benign	Het
Fbxw7	T	C	3: 84,872,586 (GRCm39)	L256S	probably damaging	Het
Fgfr2	G	T	7: 129,830,525 (GRCm39)		probably null	Het
Foxred2	C	T	15: 77,831,362 (GRCm39)	V484I	probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
H3c1	C	T	13: 23,946,231 (GRCm39)	V36M	probably benign	Het
Hipk2	T	C	6: 38,795,456 (GRCm39)	N271S	possibly damaging	Het
Ifna1	A	G	4: 88,768,496 (GRCm39)	D58G	possibly damaging	Het
Igkv4-80	A	T	6: 68,993,680 (GRCm39)	Y70*	probably null	Het
Ivns1abp	G	A	1: 151,235,386 (GRCm39)	R218H	probably damaging	Het
Kng1	A	T	16: 22,898,595 (GRCm39)		probably benign	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Lgals12	T	C	19: 7,578,607 (GRCm39)		probably benign	Het
Lpar4	T	A	X: 105,974,817 (GRCm39)	F334I	probably benign	Het
Muc5b	G	A	7: 141,416,968 (GRCm39)	G3305S	probably benign	Het
Nalcn	T	C	14: 123,555,291 (GRCm39)	D864G	probably benign	Het
Ndor1	T	C	2: 25,145,299 (GRCm39)	E22G	probably damaging	Het
Nt5c2	T	A	19: 46,912,749 (GRCm39)	M69L	probably benign	Het
Or52ab4	A	C	7: 102,987,636 (GRCm39)	Y125S	probably damaging	Het
Or8k22	T	C	2: 86,163,212 (GRCm39)	I163V	probably benign	Het
Pde12	A	T	14: 26,387,552 (GRCm39)	H455Q	probably damaging	Het
Pdia6	A	G	12: 17,324,422 (GRCm39)	H91R	probably benign	Het
Pdk4	A	T	6: 5,491,671 (GRCm39)	I179K	possibly damaging	Het
Prl2c1	T	C	13: 28,041,480 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Secisbp2	C	A	13: 51,832,942 (GRCm39)	T608K	possibly damaging	Het
Slco1a7	T	C	6: 141,668,836 (GRCm39)	Y532C	probably damaging	Het
Slmap	A	G	14: 26,143,586 (GRCm39)	V750A	possibly damaging	Het
Spaca6	T	A	17: 18,051,351 (GRCm39)	L9Q	probably damaging	Het
Sycp1	T	C	3: 102,786,080 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,712 (GRCm39)	D131E	probably damaging	Het
Tc2n	A	T	12: 101,659,404 (GRCm39)	D176E	probably damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Trank1	T	C	9: 111,202,143 (GRCm39)	V1590A	possibly damaging	Het
Tyrp1	T	C	4: 80,758,994 (GRCm39)	V289A	possibly damaging	Het
Ube2dnl1	T	A	X: 113,815,483 (GRCm39)	C119*	probably null	Het
Vmn1r191	T	A	13: 22,363,431 (GRCm39)	I108F	possibly damaging	Het
Zfp710	T	A	7: 79,731,789 (GRCm39)	I322N	probably damaging	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
IGL01666:Rasgrf2	APN	13	92,174,718 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16