Incidental Mutation 'R4436:Rac2'
ID 329550
Institutional Source Beutler Lab
Gene Symbol Rac2
Ensembl Gene ENSMUSG00000033220
Gene Name Rac family small GTPase 2
Synonyms
MMRRC Submission 041702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4436 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78443369-78456983 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 78454943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 32 (Y32*)
Ref Sequence ENSEMBL: ENSMUSP00000154826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043214] [ENSMUST00000229394]
AlphaFold Q05144
Predicted Effect probably null
Transcript: ENSMUST00000043214
AA Change: Y32*
SMART Domains Protein: ENSMUSP00000036384
Gene: ENSMUSG00000033220
AA Change: Y32*

DomainStartEndE-ValueType
RHO 6 179 3.36e-135 SMART
Predicted Effect probably null
Transcript: ENSMUST00000229394
AA Change: Y32*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229702
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 96% (54/56)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Aff3 T C 1: 38,248,768 (GRCm39) I779V possibly damaging Het
Asap1 T G 15: 64,221,692 (GRCm39) D15A probably benign Het
Ascc2 A G 11: 4,606,305 (GRCm39) D193G probably damaging Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Ccdc168 T C 1: 44,095,276 (GRCm39) I1941V probably benign Het
Ccdc85a T C 11: 28,526,457 (GRCm39) T384A probably benign Het
Cd86 T C 16: 36,441,194 (GRCm39) N91S probably benign Het
Cdk17 T A 10: 93,047,758 (GRCm39) probably null Het
Cemip T C 7: 83,636,637 (GRCm39) D332G probably null Het
Ces2f G A 8: 105,679,788 (GRCm39) R427H probably benign Het
Clec4a2 G A 6: 123,105,013 (GRCm39) probably null Het
Coa8 T A 12: 111,717,642 (GRCm39) D167E probably benign Het
Coq9 T C 8: 95,579,743 (GRCm39) F198L probably benign Het
Ddx24 C A 12: 103,390,233 (GRCm39) A253S probably damaging Het
Esyt3 A T 9: 99,240,078 (GRCm39) probably benign Het
Fat2 C A 11: 55,187,024 (GRCm39) G1274V probably damaging Het
Ggn A T 7: 28,870,976 (GRCm39) T132S probably damaging Het
Gm11568 T A 11: 99,749,421 (GRCm39) C209S unknown Het
Gm6931 T A 16: 49,245,225 (GRCm39) noncoding transcript Het
Gpr20 C T 15: 73,567,649 (GRCm39) V247I probably benign Het
Grm8 A T 6: 27,761,237 (GRCm39) V329E possibly damaging Het
Gtf2ird2 T C 5: 134,223,808 (GRCm39) L114P possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep3 C T 4: 119,953,120 (GRCm39) P479S probably benign Het
Igkv6-20 A G 6: 70,313,104 (GRCm39) V23A probably damaging Het
Ikbip T A 10: 90,937,751 (GRCm39) N141K probably damaging Het
Irag1 T C 7: 110,476,124 (GRCm39) E815G probably damaging Het
Krt77 A T 15: 101,773,904 (GRCm39) V250E probably damaging Het
Ltn1 A T 16: 87,202,502 (GRCm39) C1050S probably benign Het
Macf1 T C 4: 123,421,135 (GRCm39) I40V probably benign Het
Or2h2b-ps1 A G 17: 37,480,727 (GRCm39) F271L probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pi4ka T C 16: 17,100,246 (GRCm39) M1885V probably damaging Het
Plek A G 11: 16,942,972 (GRCm39) Y107H probably damaging Het
Ppp1r15a C T 7: 45,174,203 (GRCm39) V202M probably damaging Het
Ppp1r3e C A 14: 55,114,007 (GRCm39) A222S probably benign Het
Sdf4 T G 4: 156,093,404 (GRCm39) probably null Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Spic T A 10: 88,512,817 (GRCm39) R111S probably benign Het
Ssh3 A G 19: 4,315,394 (GRCm39) F315L probably damaging Het
Ttn T C 2: 76,595,253 (GRCm39) K11972R probably damaging Het
Tubd1 C T 11: 86,439,745 (GRCm39) S30F probably benign Het
Vmn1r17 G C 6: 57,337,719 (GRCm39) I166M possibly damaging Het
Vmn2r94 T C 17: 18,478,645 (GRCm39) Y34C probably damaging Het
Xpo7 G A 14: 70,906,869 (GRCm39) T945M probably damaging Het
Zfp316 C A 5: 143,239,803 (GRCm39) A739S probably damaging Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S 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
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
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'- GCTGGCTTGAAGGACATATTCC -3'
(R):5'- TCTTTATGGGCACTGCACGG -3'

Sequencing Primer
(F):5'- AGTCCCTCTGCCTTCTGGAG -3'
(R):5'- AGCACACTGGTATGGGGTGTC -3'
Posted On 2015-07-21