Incidental Mutation 'R5499:Diras2'
ID430536
Institutional Source Beutler Lab
Gene Symbol Diras2
Ensembl Gene ENSMUSG00000047842
Gene NameDIRAS family, GTP-binding RAS-like 2
Synonyms
MMRRC Submission 043060-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #R5499 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location52504380-52531279 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 52507750 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 174 (V174M)
Ref Sequence ENSEMBL: ENSMUSP00000055416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057442]
Predicted Effect probably benign
Transcript: ENSMUST00000057442
AA Change: V174M

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000055416
Gene: ENSMUSG00000047842
AA Change: V174M

DomainStartEndE-ValueType
RAS 5 172 8.31e-85 SMART
low complexity region 181 195 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.0%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,601,793 E74K unknown Het
Adam10 A T 9: 70,740,117 H176L probably benign Het
Anapc5 C T 5: 122,788,413 E621K probably damaging Het
Asf1a T A 10: 53,606,170 L26Q probably damaging Het
Atxn1l A G 8: 109,731,632 L666P probably damaging Het
Casc1 A T 6: 145,177,431 W570R probably damaging Het
Cep290 G A 10: 100,537,653 R1265H probably damaging Het
Chd8 A G 14: 52,204,431 probably null Het
Ctse T A 1: 131,672,513 Y333* probably null Het
Dnah11 A T 12: 118,106,474 V1532D possibly damaging Het
Ercc6 G A 14: 32,516,959 M1I probably null Het
Fbxl4 A G 4: 22,386,017 E208G probably damaging Het
Fstl4 G T 11: 53,068,547 M138I probably benign Het
Galnt17 T A 5: 130,900,628 Q447L probably benign Het
H2-Q7 T A 17: 35,439,940 C122* probably null Het
Herpud1 C T 8: 94,389,413 L69F probably damaging Het
Hnrnpa3 A G 2: 75,665,240 Y365C probably benign Het
Ino80 A T 2: 119,441,647 V553E probably damaging Het
Kif13a A G 13: 46,832,736 Y38H probably damaging Het
Klk1b21 A G 7: 44,105,676 I132V probably benign Het
Lamb2 T C 9: 108,487,802 S1252P possibly damaging Het
Lct T A 1: 128,286,677 D1786V probably damaging Het
Lrig2 T A 3: 104,461,557 M572L probably benign Het
Lrp1 C T 10: 127,572,944 V1710I possibly damaging Het
Mmp12 C A 9: 7,353,000 S250R probably benign Het
Mycbp2 T C 14: 103,242,179 D1226G probably damaging Het
Myocd A G 11: 65,178,749 I755T possibly damaging Het
Nup210l T C 3: 90,174,370 L1003P probably damaging Het
Olfr366 T C 2: 37,219,765 I92T possibly damaging Het
Olfr675 A T 7: 105,024,977 M1K probably null Het
Olfr748 G A 14: 50,710,867 C179Y probably damaging Het
Palmd T A 3: 116,923,832 M339L probably benign Het
Phtf1 T A 3: 103,991,175 N307K probably benign Het
Ppp2r3c T C 12: 55,288,626 I243V probably benign Het
Ptafr A G 4: 132,579,335 E12G probably damaging Het
Rpgrip1 T A 14: 52,140,585 N463K probably benign Het
Sgcb T C 5: 73,644,405 N39S probably damaging Het
Skint5 A G 4: 113,942,503 probably null Het
Slc45a2 C T 15: 11,027,785 T480I probably damaging Het
Slfn8 C A 11: 83,004,216 S588I probably damaging Het
Tcea2 A G 2: 181,680,434 I10V probably damaging Het
Tlr3 C T 8: 45,398,814 D349N possibly damaging Het
Top2a C T 11: 99,022,376 V77I probably benign Het
Vps51 T G 19: 6,071,033 E283D probably benign Het
Vrk1 A G 12: 106,051,765 K98E possibly damaging Het
Zcchc2 C T 1: 106,030,592 T931I possibly damaging Het
Zfc3h1 T A 10: 115,410,693 L895H probably damaging Het
Zfp101 T C 17: 33,382,344 E108G probably benign Het
Zfp609 A G 9: 65,702,855 V942A probably benign Het
Other mutations in Diras2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02668:Diras2 APN 13 52507770 missense probably benign
PIT4515001:Diras2 UTSW 13 52507747 missense possibly damaging 0.56
R3721:Diras2 UTSW 13 52508023 missense probably damaging 1.00
R3722:Diras2 UTSW 13 52508023 missense probably damaging 1.00
R5175:Diras2 UTSW 13 52507971 missense probably damaging 1.00
R5425:Diras2 UTSW 13 52508047 missense probably damaging 1.00
R5496:Diras2 UTSW 13 52507750 missense probably benign 0.02
R5501:Diras2 UTSW 13 52507750 missense probably benign 0.02
R5677:Diras2 UTSW 13 52507675 missense possibly damaging 0.96
R5949:Diras2 UTSW 13 52507711 missense possibly damaging 0.79
R6081:Diras2 UTSW 13 52508145 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTGAAGGACATTGCAGGG -3'
(R):5'- CATCATGCTGGTGGGTAACAAG -3'

Sequencing Primer
(F):5'- TGTTTAACACACGGGCATCG -3'
(R):5'- AGTGTGATGAGAGCCCCAACC -3'
Posted On2016-10-05