Incidental Mutation 'R4009:Gna13'
ID 311612
Institutional Source Beutler Lab
Gene Symbol Gna13
Ensembl Gene ENSMUSG00000020611
Gene Name guanine nucleotide binding protein, alpha 13
Synonyms Galpha13
MMRRC Submission 040846-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4009 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 109253657-109292195 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109286843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 222 (D222G)
Ref Sequence ENSEMBL: ENSMUSP00000020930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020930]
AlphaFold P27601
PDB Structure Crystal Structure of the p115RhoGEF rgRGS Domain in A Complex with Galpha(13):Galpha(i1) Chimera [X-RAY DIFFRACTION]
Crystal structure of G alpha 13 in complex with GDP [X-RAY DIFFRACTION]
Crystal structure of p115RhoGEF RGS domain in complex with G alpha 13 [X-RAY DIFFRACTION]
Crystal Structure of PDZRhoGEF rgRGS Domain in a Complex with Galpha-13 Bound to GDP [X-RAY DIFFRACTION]
Crystal Structure of PDZRhoGEF rgRGS Domain in a Complex with Galpha-13 Bound to GDP-AlF4 [X-RAY DIFFRACTION]
Crystal Structure of PDZRhoGEF rgRGS Domain in a Complex with Galpha-13 Bound to GTP-gamma-S [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000020930
AA Change: D222G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020930
Gene: ENSMUSG00000020611
AA Change: D222G

DomainStartEndE-ValueType
G_alpha 28 376 5.28e-193 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null or with an endothelial specific conditional mutation fail to develop an organized vascular system in the yolk sac, show impaired vascular development in some vascular beds in the embryo proper, and die during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,980,933 (GRCm39) L35Q probably damaging Het
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Apc2 T A 10: 80,149,426 (GRCm39) D1464E probably benign Het
Atp8a2 A G 14: 60,265,434 (GRCm39) S301P possibly damaging Het
Cntln A G 4: 84,981,452 (GRCm39) T877A probably benign Het
Cntn6 T C 6: 104,810,783 (GRCm39) I537T probably damaging Het
Cyp2d12 T G 15: 82,440,493 (GRCm39) L94R probably damaging Het
Dnah7a A G 1: 53,564,164 (GRCm39) L1965P probably damaging Het
Dock10 T C 1: 80,510,148 (GRCm39) N1560S probably damaging Het
F830045P16Rik A T 2: 129,305,467 (GRCm39) N302K probably damaging Het
Fxr1 G T 3: 34,119,171 (GRCm39) R580L probably benign Het
Gm5592 G T 7: 40,938,934 (GRCm39) V739L probably benign Het
Grm7 T A 6: 111,472,683 (GRCm39) Y841N probably damaging Het
Kat2b G A 17: 53,951,769 (GRCm39) probably null Het
Kcng4 A G 8: 120,352,824 (GRCm39) V362A probably damaging Het
Kcnh1 T A 1: 191,959,448 (GRCm39) I334N probably benign Het
Mapkbp1 T C 2: 119,854,086 (GRCm39) S1222P probably benign Het
Or10a3m A T 7: 108,313,366 (GRCm39) I269L probably benign Het
Or10ag57 A T 2: 87,218,924 (GRCm39) I292F possibly damaging Het
Or11g26 T C 14: 50,753,419 (GRCm39) S253P possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Pik3cb A G 9: 98,922,982 (GRCm39) Y1017H probably damaging Het
Plpp5 A G 8: 26,210,338 (GRCm39) E36G probably damaging Het
Pnma8a A T 7: 16,695,301 (GRCm39) K385N probably damaging Het
Ptprd T G 4: 75,874,634 (GRCm39) M1272L possibly damaging Het
Rad51ap2 A G 12: 11,507,052 (GRCm39) I325V probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint4 T C 4: 111,977,306 (GRCm39) V232A possibly damaging Het
Slc30a5 G A 13: 100,945,741 (GRCm39) A537V probably damaging Het
Tcerg1 CAATTGAAAA CAA 18: 42,697,201 (GRCm39) probably null Het
Tenm3 C A 8: 48,802,258 (GRCm39) K162N probably damaging Het
Vmn2r44 T A 7: 8,380,987 (GRCm39) Q302L possibly damaging Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Other mutations in Gna13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Gna13 APN 11 109,256,569 (GRCm39) missense probably damaging 1.00
R2844:Gna13 UTSW 11 109,253,951 (GRCm39) missense probably damaging 1.00
R4094:Gna13 UTSW 11 109,287,242 (GRCm39) missense probably damaging 1.00
R4793:Gna13 UTSW 11 109,254,455 (GRCm39) intron probably benign
R6525:Gna13 UTSW 11 109,286,765 (GRCm39) missense probably damaging 1.00
R6867:Gna13 UTSW 11 109,286,948 (GRCm39) missense possibly damaging 0.84
R8243:Gna13 UTSW 11 109,287,239 (GRCm39) missense probably damaging 1.00
RF021:Gna13 UTSW 11 109,283,218 (GRCm39) missense probably benign
Z1177:Gna13 UTSW 11 109,287,028 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATCCATTTACTGGGCCATTTG -3'
(R):5'- TCTCCTCGAGCAAGTCTGTC -3'

Sequencing Primer
(F):5'- GCCATTTGCTACTTGTGGACTCTAAG -3'
(R):5'- CGTTGCTGAAAACCCGATTG -3'
Posted On 2015-04-29