Incidental Mutation 'R8276:Gng5'
ID 656457
Institutional Source Beutler Lab
Gene Symbol Gng5
Ensembl Gene ENSMUSG00000068523
Gene Name G protein subunit gamma 5
Synonyms G(y)5
MMRRC Submission 067699-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R8276 (G1)
Quality Score 74.0075
Status Validated
Chromosome 3
Chromosomal Location 146205591-146211298 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 146206258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000090031] [ENSMUST00000118280] [ENSMUST00000119130]
AlphaFold Q80SZ7
Predicted Effect probably benign
Transcript: ENSMUST00000029839
SMART Domains Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:SPATA1_C 279 428 1.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090031
SMART Domains Protein: ENSMUSP00000087485
Gene: ENSMUSG00000068523

DomainStartEndE-ValueType
G_gamma 4 68 1.06e-20 SMART
GGL 7 68 2.79e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118280
SMART Domains Protein: ENSMUSP00000114014
Gene: ENSMUSG00000068523

DomainStartEndE-ValueType
G_gamma 4 68 1.06e-20 SMART
GGL 7 68 2.79e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119130
SMART Domains Protein: ENSMUSP00000113018
Gene: ENSMUSG00000068523

DomainStartEndE-ValueType
G_gamma 1 67 9.67e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (44/45)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit abnormal headfolds, hypoplastic pharyngeal arches, severe cardiac defects including absence of formation of the right ventricle and outflow tract, and complete embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,385,885 (GRCm39) R27W probably damaging Het
Acbd5 A G 2: 22,959,563 (GRCm39) D39G probably benign Het
Amdhd2 C G 17: 24,382,574 (GRCm39) R22P probably damaging Het
Ankmy1 T C 1: 92,814,531 (GRCm39) I325M probably benign Het
Cyld A G 8: 89,461,556 (GRCm39) I664M probably benign Het
Dnajc10 T C 2: 80,179,614 (GRCm39) M716T probably benign Het
Dock10 T A 1: 80,505,998 (GRCm39) T1743S probably benign Het
Dop1a T C 9: 86,399,092 (GRCm39) S947P probably benign Het
Ep300 C G 15: 81,534,229 (GRCm39) N2095K possibly damaging Het
Evi2a T A 11: 79,418,316 (GRCm39) N98I probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Far2 G T 6: 148,075,399 (GRCm39) V420L probably benign Het
Heatr5b G A 17: 79,098,968 (GRCm39) R1311* probably null Het
Hhipl2 A T 1: 183,217,328 (GRCm39) K478M possibly damaging Het
Hs3st1 A T 5: 39,772,146 (GRCm39) Y166N probably damaging Het
Jcad T A 18: 4,674,318 (GRCm39) S693R probably damaging Het
Kcnmb3 A G 3: 32,536,572 (GRCm39) L52P probably damaging Het
Mib1 T C 18: 10,751,880 (GRCm39) I254T possibly damaging Het
Myo18b T C 5: 112,943,273 (GRCm39) K1644R possibly damaging Het
Nherf2 G T 17: 24,861,234 (GRCm39) Y175* probably null Het
Nlrp2 G A 7: 5,320,494 (GRCm39) T881M probably benign Het
Or11h23 T A 14: 50,948,287 (GRCm39) S167T probably benign Het
Or52h9 A T 7: 104,202,522 (GRCm39) Y132F probably damaging Het
Pkd1l3 A C 8: 110,397,353 (GRCm39) *2152C probably null Het
Polr2a G A 11: 69,638,882 (GRCm39) R51C probably damaging Het
Ptpru C T 4: 131,506,484 (GRCm39) G1026D probably damaging Het
Rbm46 A G 3: 82,771,895 (GRCm39) V240A probably damaging Het
Rrm1 G A 7: 102,110,059 (GRCm39) probably null Het
Ryr3 T C 2: 112,470,962 (GRCm39) D4637G probably damaging Het
Selenos G A 7: 65,729,552 (GRCm39) probably benign Het
Serpina1e G T 12: 103,913,428 (GRCm39) T364K probably damaging Het
Shroom3 A T 5: 93,088,339 (GRCm39) Q363L probably damaging Het
Slc9b1 A C 3: 135,077,658 (GRCm39) E139D possibly damaging Het
Tjp1 A T 7: 64,993,544 (GRCm39) probably benign Het
Tmcc3 A T 10: 94,418,170 (GRCm39) T344S probably damaging Het
Tnrc6b T A 15: 80,764,918 (GRCm39) S807T probably benign Het
Trav7-6 A T 14: 53,954,695 (GRCm39) H95L probably benign Het
Trmu T A 15: 85,766,932 (GRCm39) V47D possibly damaging Het
Uba6 C A 5: 86,290,509 (GRCm39) probably benign Het
Unc79 A G 12: 102,968,122 (GRCm39) D116G possibly damaging Het
Vmn2r93 G A 17: 18,525,649 (GRCm39) probably null Het
Zfp541 A T 7: 15,813,009 (GRCm39) H554L possibly damaging Het
Zfp618 A G 4: 63,051,193 (GRCm39) H658R probably damaging Het
Zmym1 A T 4: 126,948,051 (GRCm39) Y107N probably damaging Het
Other mutations in Gng5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0119:Gng5 UTSW 3 146,209,048 (GRCm39) missense probably damaging 0.99
R0506:Gng5 UTSW 3 146,209,103 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCGAACAAAGAGGTGTTTGCAG -3'
(R):5'- GCCTTCTCCAAAAGCACGTTAG -3'

Sequencing Primer
(F):5'- AGGTGTTTGCAGCAGACGC -3'
(R):5'- TCACCTTGGAAACTGGCAG -3'
Posted On 2020-11-23