Incidental Mutation 'R5051:Rac2'
ID 394668
Institutional Source Beutler Lab
Gene Symbol Rac2
Ensembl Gene ENSMUSG00000033220
Gene Name Rac family small GTPase 2
Synonyms
MMRRC Submission 042641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5051 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78443369-78456983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78449134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 13 (I13T)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043214] [ENSMUST00000229394]
AlphaFold Q05144
Predicted Effect probably benign
Transcript: ENSMUST00000043214
AA Change: I126T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000036384
Gene: ENSMUSG00000033220
AA Change: I126T

DomainStartEndE-ValueType
RHO 6 179 3.36e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229394
Predicted Effect possibly damaging
Transcript: ENSMUST00000230952
AA Change: I13T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1368 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.6%
Validation Efficiency 98% (62/63)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik G A 11: 25,718,990 (GRCm39) T51I unknown Het
Alms1 C T 6: 85,604,916 (GRCm39) Q2189* probably null Het
Ank1 A T 8: 23,609,397 (GRCm39) D1363V probably damaging Het
Ap3d1 T G 10: 80,555,033 (GRCm39) T431P probably damaging Het
Arnt A G 3: 95,377,648 (GRCm39) T125A probably benign Het
Atp10a TGTCCGTC TGTC 7: 58,389,994 (GRCm39) probably null Het
Bscl2 A T 19: 8,822,643 (GRCm39) R195* probably null Het
Ccdc146 C T 5: 21,508,081 (GRCm39) V656I possibly damaging Het
Ccn6 A G 10: 39,031,152 (GRCm39) F124L probably benign Het
Ccr4 T C 9: 114,321,714 (GRCm39) Y117C probably damaging Het
Cd55 T A 1: 130,376,085 (GRCm39) D355V probably damaging Het
Cntn6 T A 6: 104,749,558 (GRCm39) I259N probably damaging Het
Cspg4 A G 9: 56,793,020 (GRCm39) I252V possibly damaging Het
Dmbt1 T C 7: 130,696,472 (GRCm39) V895A probably benign Het
Ect2 A G 3: 27,156,635 (GRCm39) V775A probably benign Het
Gm14486 T C 2: 30,548,889 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,756,393 (GRCm39) N444S possibly damaging Het
Heatr5b T C 17: 79,102,703 (GRCm39) D1225G probably damaging Het
Il1rl2 G A 1: 40,382,254 (GRCm39) V189I probably benign Het
Kif1a G A 1: 93,003,876 (GRCm39) probably null Het
Ltbr T A 6: 125,289,733 (GRCm39) T154S probably damaging Het
Mrgpra6 C T 7: 46,835,690 (GRCm39) V244I probably benign Het
Myo15a G A 11: 60,378,251 (GRCm39) probably null Het
Ndufs1 A G 1: 63,204,106 (GRCm39) probably null Het
Nectin3 A T 16: 46,268,913 (GRCm39) N496K possibly damaging Het
Nkd2 A G 13: 73,973,195 (GRCm39) V147A probably benign Het
Nlrp3 G C 11: 59,457,025 (GRCm39) R1013P probably benign Het
Or4d11 C A 19: 12,013,288 (GRCm39) V273F possibly damaging Het
Or4k36 T A 2: 111,146,599 (GRCm39) Y258* probably null Het
Pdk2 T C 11: 94,919,598 (GRCm39) S263G probably benign Het
Pla2g4e T A 2: 120,004,785 (GRCm39) I520F probably damaging Het
Plat A G 8: 23,263,688 (GRCm39) T196A probably benign Het
Podn T A 4: 107,872,043 (GRCm39) D400V probably benign Het
Poteg T C 8: 27,943,357 (GRCm39) V147A possibly damaging Het
Prkar2a A G 9: 108,622,690 (GRCm39) N315D probably benign Het
Rangap1 A C 15: 81,594,664 (GRCm39) D388E probably benign Het
Relch T A 1: 105,619,711 (GRCm39) N313K possibly damaging Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Supv3l1 A C 10: 62,279,196 (GRCm39) I240S probably damaging Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Tead4 A C 6: 128,271,262 (GRCm39) probably benign Het
Tex10 G A 4: 48,460,019 (GRCm39) A444V possibly damaging Het
Tgds A T 14: 118,365,639 (GRCm39) I73K probably damaging Het
Tmem117 C A 15: 94,612,794 (GRCm39) T110K probably damaging Het
Trim30a T A 7: 104,060,913 (GRCm39) probably benign Het
Unc80 C T 1: 66,548,636 (GRCm39) T636I probably damaging Het
Ybey G A 10: 76,304,173 (GRCm39) R10W probably damaging Het
Zap70 A G 1: 36,820,532 (GRCm39) I576V probably benign Het
Zfp64 T C 2: 168,768,304 (GRCm39) D436G probably damaging 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
R5207:Rac2 UTSW 15 78,449,654 (GRCm39) missense probably damaging 0.97
R7384:Rac2 UTSW 15 78,446,131 (GRCm39) nonsense probably null
R8482:Rac2 UTSW 15 78,450,206 (GRCm39) missense probably benign 0.29
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'- CCAAGTCATTTTACCCAGGCAC -3'
(R):5'- AGATCCTGCTCTGCCTTGTG -3'

Sequencing Primer
(F):5'- TCACACAGCTGGTACAATGGTTG -3'
(R):5'- TTGTGACCCTCCCGCTAGG -3'
Posted On 2016-06-15