Incidental Mutation 'R5501:Diras2'
ID 430630
Institutional Source Beutler Lab
Gene Symbol Diras2
Ensembl Gene ENSMUSG00000047842
Gene Name DIRAS family, GTP-binding RAS-like 2
Synonyms 2900052J15Rik
MMRRC Submission 043062-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R5501 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 52658416-52685315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52661786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 174 (V174M)
Ref Sequence ENSEMBL: ENSMUSP00000055416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057442]
AlphaFold Q5PR73
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: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A C 8: 44,022,941 (GRCm39) L183* probably null Het
Alox12e G T 11: 70,207,055 (GRCm39) Q584K probably benign Het
Atp1a4 A G 1: 172,074,399 (GRCm39) S285P probably damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Col25a1 A G 3: 130,389,312 (GRCm39) T632A probably benign Het
Coro6 T C 11: 77,358,622 (GRCm39) F227S probably damaging Het
Dop1a A G 9: 86,389,783 (GRCm39) D569G probably benign Het
Dync1li2 A G 8: 105,167,104 (GRCm39) probably null Het
Dysf T C 6: 84,064,800 (GRCm39) V508A probably damaging Het
Edem1 T C 6: 108,820,061 (GRCm39) probably null Het
Eef2k A G 7: 120,488,471 (GRCm39) D452G probably benign Het
Espl1 A G 15: 102,225,565 (GRCm39) R1539G possibly damaging Het
Fat4 A G 3: 38,941,364 (GRCm39) S86G probably benign Het
Hpgd A T 8: 56,751,391 (GRCm39) D73V probably benign Het
Ltb4r1 A G 14: 56,005,539 (GRCm39) N281D probably damaging Het
Map7 T C 10: 20,151,948 (GRCm39) S638P unknown Het
Mical1 G A 10: 41,362,075 (GRCm39) A934T probably benign Het
Micu3 C A 8: 40,807,341 (GRCm39) probably null Het
Mmp24 T A 2: 155,640,056 (GRCm39) Y129N probably damaging Het
Mras A T 9: 99,293,599 (GRCm39) Y14N probably damaging Het
Msmo1 A T 8: 65,175,523 (GRCm39) I169N probably damaging Het
Mtrr G T 13: 68,727,766 (GRCm39) T60K probably damaging Het
Or4c113 A T 2: 88,885,230 (GRCm39) L180* probably null Het
Or5p6 G T 7: 107,631,360 (GRCm39) Y63* probably null Het
Or7g30 T A 9: 19,352,290 (GRCm39) I27N possibly damaging Het
Pam A T 1: 97,768,090 (GRCm39) C8* probably null Het
Phrf1 T G 7: 140,839,834 (GRCm39) S1169A possibly damaging Het
Pkd1l2 T C 8: 117,792,569 (GRCm39) T408A probably damaging Het
Plch1 G T 3: 63,615,162 (GRCm39) Q778K probably damaging Het
Ppp1r3a A G 6: 14,719,417 (GRCm39) V499A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr3 C A 2: 112,492,849 (GRCm39) S3736I possibly damaging Het
Serpinb13 T C 1: 106,909,915 (GRCm39) F11L possibly damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Smcp A G 3: 92,491,731 (GRCm39) C39R unknown Het
Sox9 T A 11: 112,674,685 (GRCm39) L161Q probably damaging Het
Tanc2 T C 11: 105,805,811 (GRCm39) probably null Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Tmem131l G T 3: 83,833,435 (GRCm39) N809K probably damaging Het
Tyk2 T C 9: 21,032,908 (GRCm39) Y285C probably damaging Het
Usp15 T A 10: 123,011,804 (GRCm39) N98Y probably damaging Het
Other mutations in Diras2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5677:Diras2 UTSW 13 52,661,711 (GRCm39) missense possibly damaging 0.96
R5949:Diras2 UTSW 13 52,661,747 (GRCm39) missense possibly damaging 0.79
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'- TCTGAAGGACATTGCAGGGTG -3'
(R):5'- CCATCATGCTGGTGGGTAAC -3'

Sequencing Primer
(F):5'- TGTTTAACACACGGGCATCG -3'
(R):5'- CAAGTGTGATGAGAGCCCC -3'
Posted On 2016-10-05