Incidental Mutation 'R8482:Rac2'
ID 657589
Institutional Source Beutler Lab
Gene Symbol Rac2
Ensembl Gene ENSMUSG00000033220
Gene Name Rac family small GTPase 2
Synonyms
MMRRC Submission 067926-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8482 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 78443369-78456983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78450206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 45 (M45V)
Ref Sequence ENSEMBL: ENSMUSP00000036384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043214] [ENSMUST00000229394]
AlphaFold Q05144
Predicted Effect probably benign
Transcript: ENSMUST00000043214
AA Change: M45V

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036384
Gene: ENSMUSG00000033220
AA Change: M45V

DomainStartEndE-ValueType
RHO 6 179 3.36e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229394
Predicted Effect probably benign
Transcript: ENSMUST00000230952
Meta Mutation Damage Score 0.1733 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit peripheral blood lymphocytosis, reductions in peritoneal B-1a lymphocytes, marginal zone lymphocytes, and IgM-secreting plasma cells, decreased levels of serum IgM and IgA, and abnormal T cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 78,746,492 (GRCm39) V711I probably benign Het
Adprh A T 16: 38,267,871 (GRCm39) M138K probably damaging Het
Ahctf1 A G 1: 179,591,107 (GRCm39) probably benign Het
Atg9a G A 1: 75,162,870 (GRCm39) T410M probably damaging Het
Atxn1 A T 13: 45,721,426 (GRCm39) S156R possibly damaging Het
Bptf T C 11: 106,934,524 (GRCm39) T2850A probably benign Het
Cc2d2a A T 5: 43,852,581 (GRCm39) Y386F probably damaging Het
Ccdc97 T C 7: 25,414,427 (GRCm39) D109G probably damaging Het
Chd5 C T 4: 152,441,147 (GRCm39) R196* probably null Het
Clec4a2 T C 6: 123,100,630 (GRCm39) probably null Het
Col13a1 A G 10: 61,720,477 (GRCm39) I317T probably damaging Het
D630003M21Rik G T 2: 158,058,852 (GRCm39) S349R probably benign Het
Eml5 C A 12: 98,842,560 (GRCm39) L179F probably damaging Het
Entrep1 T A 19: 23,965,866 (GRCm39) N211I probably damaging Het
Ets2 A T 16: 95,516,019 (GRCm39) M200L probably benign Het
Fat3 T C 9: 16,158,263 (GRCm39) T1116A probably benign Het
Fhit A G 14: 10,751,616 (GRCm38) V24A probably benign Het
Gm6685 T C 11: 28,289,195 (GRCm39) N207S probably benign Het
Hdc G A 2: 126,436,125 (GRCm39) T582M probably benign Het
Hmgxb4 G A 8: 75,756,222 (GRCm39) C575Y probably damaging Het
Kidins220 T A 12: 25,090,527 (GRCm39) S1164T probably benign Het
Ldb1 C A 19: 46,024,709 (GRCm39) D5Y probably null Het
Lpcat1 G A 13: 73,659,044 (GRCm39) R320H probably benign Het
Lrfn4 T C 19: 4,664,333 (GRCm39) D67G probably damaging Het
Myo15b C T 11: 115,774,083 (GRCm39) Q550* probably null Het
Myo18b C A 5: 113,019,489 (GRCm39) E43* probably null Het
Neurl1a T C 19: 47,241,719 (GRCm39) C271R probably damaging Het
Nfasc T C 1: 132,532,827 (GRCm39) S690G probably damaging Het
Ngly1 T C 14: 16,310,377 (GRCm38) S501P probably benign Het
Nlrp1a A T 11: 70,999,901 (GRCm39) probably null Het
Npw A G 17: 24,876,396 (GRCm39) W172R probably benign Het
Nudt8 T C 19: 4,050,849 (GRCm39) probably null Het
Nyap2 A T 1: 81,219,352 (GRCm39) Y458F probably damaging Het
Or10ag56 G A 2: 87,139,726 (GRCm39) V198I probably benign Het
Osbpl5 T A 7: 143,258,731 (GRCm39) T280S probably benign Het
Pex1 A T 5: 3,662,923 (GRCm39) I505F probably benign Het
Pfkm A G 15: 98,029,864 (GRCm39) E756G probably benign Het
Pkd2l2 A G 18: 34,558,166 (GRCm39) I282V possibly damaging Het
Pnpla8 T C 12: 44,330,410 (GRCm39) S321P probably benign Het
Prxl2a C T 14: 40,719,723 (GRCm39) E164K probably benign Het
Qdpr G T 5: 45,596,688 (GRCm39) Q159K probably benign Het
Rnaset2b G A 17: 7,263,908 (GRCm39) probably null Het
Rpl38 T A 11: 114,563,114 (GRCm39) *71R probably null Het
Sacs G T 14: 61,440,404 (GRCm39) V817L probably benign Het
Selenot T C 3: 58,495,889 (GRCm39) F133S probably damaging Het
Sgcg G A 14: 61,477,856 (GRCm39) L78F probably damaging Het
Slc19a1 A G 10: 76,885,497 (GRCm39) R466G probably benign Het
Tpr A G 1: 150,309,451 (GRCm39) T1736A probably damaging Het
Zfhx3 A G 8: 109,674,511 (GRCm39) I1854V probably benign Het
Zfp652 T C 11: 95,643,719 (GRCm39) S306P probably damaging Het
Zfp998 C T 13: 66,579,797 (GRCm39) probably benign Het
Other mutations in Rac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02931:Rac2 APN 15 78,454,947 (GRCm39) missense possibly damaging 0.79
Big_bend UTSW 15 78,450,145 (GRCm39) missense possibly damaging 0.95
bingo UTSW 15 78,449,168 (GRCm39) missense probably damaging 1.00
Lamb UTSW 15 78,449,134 (GRCm39) missense possibly damaging 0.68
Migrant UTSW 15 78,450,223 (GRCm39) missense probably damaging 0.96
Potter UTSW 15 78,454,943 (GRCm39) nonsense probably null
Potter2 UTSW 15 78,449,654 (GRCm39) missense probably damaging 0.97
wheel UTSW 15 78,450,206 (GRCm39) missense probably benign 0.29
R0557:Rac2 UTSW 15 78,449,174 (GRCm39) missense probably damaging 1.00
R0627:Rac2 UTSW 15 78,449,168 (GRCm39) missense probably damaging 1.00
R0751:Rac2 UTSW 15 78,450,145 (GRCm39) missense possibly damaging 0.95
R1184:Rac2 UTSW 15 78,450,145 (GRCm39) missense possibly damaging 0.95
R2349:Rac2 UTSW 15 78,449,675 (GRCm39) missense possibly damaging 0.51
R3816:Rac2 UTSW 15 78,450,199 (GRCm39) missense possibly damaging 0.75
R4436:Rac2 UTSW 15 78,454,943 (GRCm39) nonsense probably null
R5051:Rac2 UTSW 15 78,449,134 (GRCm39) missense possibly damaging 0.68
R5207:Rac2 UTSW 15 78,449,654 (GRCm39) missense probably damaging 0.97
R7384:Rac2 UTSW 15 78,446,131 (GRCm39) nonsense probably null
R8938:Rac2 UTSW 15 78,446,112 (GRCm39) missense probably damaging 0.98
R9231:Rac2 UTSW 15 78,450,223 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ATCTCGGGGCATGGTGATACTC -3'
(R):5'- TTGTGGAAACAGCCAGTTGC -3'

Sequencing Primer
(F):5'- TGATACTCGGGGCAGCATG -3'
(R):5'- AACAGCCAGTTGCACGGTG -3'
Posted On 2021-01-18