Incidental Mutation 'R8243:Gna13'
ID 637666
Institutional Source Beutler Lab
Gene Symbol Gna13
Ensembl Gene ENSMUSG00000020611
Gene Name guanine nucleotide binding protein, alpha 13
Synonyms Galpha13
MMRRC Submission 067648-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8243 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109253657-109292195 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109287239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 354 (N354S)
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: N354S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020930
Gene: ENSMUSG00000020611
AA Change: N354S

DomainStartEndE-ValueType
G_alpha 28 376 5.28e-193 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.7%
  • 20x: 96.0%
Validation Efficiency 100% (47/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T A 11: 46,015,909 (GRCm39) H356Q probably damaging Het
BC030500 T C 8: 59,365,388 (GRCm39) I13T unknown Het
Bcl6 C T 16: 23,786,883 (GRCm39) C636Y probably damaging Het
Cabyr G T 18: 12,883,759 (GRCm39) C82F probably benign Het
Clec4a1 T C 6: 122,901,778 (GRCm39) V70A possibly damaging Het
Col11a1 C T 3: 113,855,141 (GRCm39) P134S unknown Het
Col27a1 A G 4: 63,144,120 (GRCm39) T603A probably damaging Het
Col6a6 T C 9: 105,576,468 (GRCm39) D1964G probably damaging Het
Dnajc8 A G 4: 132,278,775 (GRCm39) probably null Het
E330034G19Rik T C 14: 24,358,360 (GRCm39) Y318H Het
Efemp1 T A 11: 28,871,690 (GRCm39) S402T probably damaging Het
Emcn T C 3: 137,097,411 (GRCm39) V110A possibly damaging Het
Fgd5 C T 6: 91,966,004 (GRCm39) L746F possibly damaging Het
Helq G T 5: 100,918,348 (GRCm39) S855R possibly damaging Het
Hps5 G T 7: 46,436,066 (GRCm39) A160E probably damaging Het
Igfbp7 T A 5: 77,549,339 (GRCm39) E188V probably benign Het
Ivd A G 2: 118,702,018 (GRCm39) Y150C probably damaging Het
Jade2 T C 11: 51,708,045 (GRCm39) T723A probably benign Het
Kif1b T C 4: 149,288,724 (GRCm39) N1239S probably benign Het
Klb A G 5: 65,536,338 (GRCm39) N556S possibly damaging Het
Klhdc8a C T 1: 132,230,304 (GRCm39) R140C possibly damaging Het
Klhl2 T A 8: 65,202,084 (GRCm39) M531L probably benign Het
Mark3 T A 12: 111,613,956 (GRCm39) S546R possibly damaging Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Musk G A 4: 58,293,600 (GRCm39) R63K probably benign Het
Nacad C T 11: 6,552,643 (GRCm39) E183K probably damaging Het
Oasl1 T C 5: 115,066,220 (GRCm39) Y113H probably benign Het
Or10g9b A T 9: 39,917,484 (GRCm39) C254S probably benign Het
Or1x2 C T 11: 50,918,138 (GRCm39) T103M probably benign Het
Or4c111 T A 2: 88,844,051 (GRCm39) Y119F probably benign Het
Or51ab3 A T 7: 103,201,205 (GRCm39) D71V probably damaging Het
Or8b56 A G 9: 38,739,803 (GRCm39) E272G Het
P4hb T C 11: 120,454,206 (GRCm39) D296G probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekhh1 G A 12: 79,125,843 (GRCm39) R1293H probably benign Het
Prss21 A G 17: 24,088,376 (GRCm39) T114A probably damaging Het
Ptprn T C 1: 75,229,179 (GRCm39) D776G probably damaging Het
Rffl A G 11: 82,703,621 (GRCm39) C101R probably damaging Het
Rundc1 A G 11: 101,316,384 (GRCm39) D152G probably benign Het
Sema6c A G 3: 95,079,916 (GRCm39) T737A probably damaging Het
Sppl2c A G 11: 104,078,687 (GRCm39) T496A probably damaging Het
Supt7l T C 5: 31,673,013 (GRCm39) I412V probably benign Het
Trim38 T A 13: 23,975,378 (GRCm39) I439N probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Usp18 G A 6: 121,246,103 (GRCm39) R353H probably benign Het
Usp42 T C 5: 143,700,849 (GRCm39) K1058R probably benign Het
Utp25 T C 1: 192,796,937 (GRCm39) D598G 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
R4009:Gna13 UTSW 11 109,286,843 (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
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'- CTTGCTCGAGGAGAAAGTGC -3'
(R):5'- AAGGCCACAGATGAACTAAGTTC -3'

Sequencing Primer
(F):5'- GTGCAAGTTGTTAGCATCAAAGAC -3'
(R):5'- CACAACTGAGATTCTTCTAACTGCTG -3'
Posted On 2020-07-13