Mutagenetix > Incidental Mutation

Incidental Mutation 'R5949:Diras2'

472347

Institutional Source

Beutler Lab

Gene Symbol

Diras2

Ensembl Gene

ENSMUSG00000047842

Gene Name

DIRAS family, GTP-binding RAS-like 2

Synonyms

2900052J15Rik

MMRRC Submission

044139-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R5949 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52658416-52685315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52661747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 187 (K187E)

Ref Sequence

ENSEMBL: ENSMUSP00000055416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057442]

AlphaFold

Q5PR73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057442
AA Change: K187E

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055416
Gene: ENSMUSG00000047842
AA Change: K187E

Domain	Start	End	E-Value	Type
RAS	5	172	8.31e-85	SMART
low complexity region	181	195	N/A	INTRINSIC

Meta Mutation Damage Score

0.0650

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

92% (58/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,032 (GRCm39)	Y1452C	probably damaging	Het
Adcy10	A	T	1: 165,367,386 (GRCm39)	H552L	possibly damaging	Het
Alms1-ps1	A	T	6: 85,698,943 (GRCm39)		noncoding transcript	Het
Arhgap21	A	G	2: 20,853,852 (GRCm39)	S1837P	probably damaging	Het
Atad5	G	T	11: 79,986,835 (GRCm39)	E641*	probably null	Het
Atp8b4	T	A	2: 126,247,242 (GRCm39)	T276S	probably benign	Het
Bptf	A	G	11: 107,001,915 (GRCm39)	I399T	probably damaging	Het
Carf	A	C	1: 60,178,472 (GRCm39)	K295T	probably damaging	Het
Cd209d	T	A	8: 3,927,949 (GRCm39)	N52Y	possibly damaging	Het
Cdh2	T	A	18: 16,734,687 (GRCm39)	I779F	probably damaging	Het
Cdon	G	A	9: 35,398,247 (GRCm39)	R988H	probably benign	Het
Cfhr4	A	T	1: 139,660,887 (GRCm39)	H600Q	probably damaging	Het
Cic	C	T	7: 24,971,730 (GRCm39)	T487M	probably damaging	Het
Dcps	A	G	9: 35,036,557 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,679,874 (GRCm39)	C427R	probably damaging	Het
Emb	A	G	13: 117,403,928 (GRCm39)	I227V	probably benign	Het
Fam193a	T	A	5: 34,597,816 (GRCm39)	S538T	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Galnt6	A	T	15: 100,594,431 (GRCm39)	N533K	probably damaging	Het
Grip1	A	G	10: 119,886,147 (GRCm39)	D499G	probably benign	Het
Ifih1	T	C	2: 62,440,904 (GRCm39)	N421D	probably benign	Het
Ifng	G	C	10: 118,278,529 (GRCm39)	M63I	probably benign	Het
Ighv1-43	A	G	12: 114,910,002 (GRCm39)	M1T	probably null	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt87	A	T	15: 101,385,476 (GRCm39)	C299S	probably damaging	Het
Lrrn1	G	T	6: 107,544,465 (GRCm39)	V88L	probably benign	Het
Mapkapk2	A	G	1: 130,985,742 (GRCm39)	V173A	possibly damaging	Het
Mrap2	T	G	9: 87,064,658 (GRCm39)	V133G	probably benign	Het
Nlrp1a	T	A	11: 70,989,815 (GRCm39)	D984V	probably damaging	Het
Or4c125	A	G	2: 89,170,229 (GRCm39)	V139A	probably damaging	Het
Or5p59	T	C	7: 107,703,404 (GRCm39)	L296P	probably damaging	Het
Pcdh17	T	C	14: 84,684,996 (GRCm39)	Y488H	probably damaging	Het
Pih1d2	C	T	9: 50,536,284 (GRCm39)	P313L	probably damaging	Het
Ralgapb	T	C	2: 158,296,179 (GRCm39)	C839R	probably damaging	Het
Rdh5	C	A	10: 128,754,136 (GRCm39)	R29L	probably benign	Het
Rfx6	A	G	10: 51,554,429 (GRCm39)	D90G	probably benign	Het
Rnf213	A	G	11: 119,333,905 (GRCm39)	Y3038C	probably damaging	Het
Sec14l2	A	T	11: 4,058,972 (GRCm39)	V191D	probably damaging	Het
Slc3a2	T	C	19: 8,690,759 (GRCm39)	Y118C	probably damaging	Het
Sorbs2	T	C	8: 46,222,934 (GRCm39)		probably null	Het
Stab2	A	G	10: 86,805,713 (GRCm39)	L211P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,038,876 (GRCm39)	C289R	probably benign	Het
Tfpi	T	C	2: 84,275,092 (GRCm39)	E172G	probably benign	Het
Tmem106b	T	A	6: 13,083,418 (GRCm39)	M229K	probably damaging	Het
Tsfm	G	A	10: 126,864,244 (GRCm39)	T157M	probably damaging	Het
Tshr	G	A	12: 91,503,992 (GRCm39)	R310H	probably damaging	Het
Ttn	G	A	2: 76,608,244 (GRCm39)	A17893V	possibly damaging	Het
Vps39	A	G	2: 120,159,149 (GRCm39)	Y380H	probably benign	Het
Xylt2	G	A	11: 94,559,309 (GRCm39)	R383C	probably damaging	Het
Zfp719	C	T	7: 43,233,541 (GRCm39)		probably benign	Het

Other mutations in Diras2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02668:Diras2	APN	13	52,661,806 (GRCm39)	missense	probably benign
PIT4515001:Diras2	UTSW	13	52,661,783 (GRCm39)	missense	possibly damaging	0.56
R3721:Diras2	UTSW	13	52,662,059 (GRCm39)	missense	probably damaging	1.00
R3722:Diras2	UTSW	13	52,662,059 (GRCm39)	missense	probably damaging	1.00
R5175:Diras2	UTSW	13	52,662,007 (GRCm39)	missense	probably damaging	1.00
R5425:Diras2	UTSW	13	52,662,083 (GRCm39)	missense	probably damaging	1.00
R5496:Diras2	UTSW	13	52,661,786 (GRCm39)	missense	probably benign	0.02
R5499:Diras2	UTSW	13	52,661,786 (GRCm39)	missense	probably benign	0.02
R5501:Diras2	UTSW	13	52,661,786 (GRCm39)	missense	probably benign	0.02
R5677:Diras2	UTSW	13	52,661,711 (GRCm39)	missense	possibly damaging	0.96
R6081:Diras2	UTSW	13	52,662,181 (GRCm39)	missense	probably damaging	1.00
R8280:Diras2	UTSW	13	52,661,863 (GRCm39)	missense	probably benign	0.14
R8699:Diras2	UTSW	13	52,662,143 (GRCm39)	missense	probably damaging	1.00
R8874:Diras2	UTSW	13	52,661,737 (GRCm39)	missense	possibly damaging	0.82
R9448:Diras2	UTSW	13	52,662,122 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATGCCTCTGAAGGACATTGCAG -3'
(R):5'- CATGCTGGTGGGTAACAAGTG -3'

Sequencing Primer
(F):5'- AAGGACATTGCAGGGTGTGTC -3'
(R):5'- AGTGTGATGAGAGCCCCAACC -3'

Posted On

2017-03-31