Incidental Mutation 'R5824:Gspt2'
ID 450096
Institutional Source Beutler Lab
Gene Symbol Gspt2
Ensembl Gene ENSMUSG00000071723
Gene Name G1 to S phase transition 2
Synonyms
MMRRC Submission 043216-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5824 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 93679675-93682168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93680071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 70 (V70A)
Ref Sequence ENSEMBL: ENSMUSP00000109523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096368] [ENSMUST00000137033]
AlphaFold Q149F3
Predicted Effect possibly damaging
Transcript: ENSMUST00000096368
AA Change: V70A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109523
Gene: ENSMUSG00000071723
AA Change: V70A

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
Pfam:PAM2 54 71 2.2e-8 PFAM
low complexity region 177 197 N/A INTRINSIC
Pfam:GTP_EFTU 205 482 1.6e-46 PFAM
Pfam:GTP_EFTU_D2 447 514 2e-8 PFAM
Pfam:GTP_EFTU_D3 520 628 8.3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137033
AA Change: V70A

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139286
Gene: ENSMUSG00000071723
AA Change: V70A

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
Pfam:PAM2 54 71 7.7e-9 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A T 13: 59,613,913 (GRCm39) H66Q probably damaging Het
Ap1g1 T A 8: 110,565,544 (GRCm39) probably null Het
Ap4b1 A T 3: 103,720,701 (GRCm39) I124F probably benign Het
Arhgap10 A T 8: 78,085,181 (GRCm39) Y462* probably null Het
Btnl10 G T 11: 58,814,266 (GRCm39) M315I probably benign Het
Cep295 A G 9: 15,236,952 (GRCm39) V1994A possibly damaging Het
Cherp G A 8: 73,216,102 (GRCm39) probably benign Het
Ckap5 G A 2: 91,389,481 (GRCm39) A318T probably benign Het
Cma1 T C 14: 56,179,182 (GRCm39) K238E possibly damaging Het
Cspg4b T A 13: 113,505,154 (GRCm39) H2094Q probably damaging Het
Ctif T C 18: 75,743,749 (GRCm39) D141G possibly damaging Het
Ctnna1 T C 18: 35,312,939 (GRCm39) S264P probably benign Het
Dnah12 G T 14: 26,492,475 (GRCm39) probably null Het
Dnah5 A G 15: 28,313,967 (GRCm39) T1928A probably benign Het
Etfdh G A 3: 79,517,252 (GRCm39) P379L probably damaging Het
Gfra3 T C 18: 34,844,264 (GRCm39) N92S probably damaging Het
Gpr161 C A 1: 165,138,560 (GRCm39) T382K possibly damaging Het
Hmcn1 A G 1: 150,868,774 (GRCm39) V10A probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Kpna1 A G 16: 35,840,575 (GRCm39) D205G possibly damaging Het
Man2a2 T G 7: 80,002,780 (GRCm39) D1067A probably benign Het
Map3k4 G A 17: 12,448,526 (GRCm39) H1551Y probably damaging Het
Moxd1 A T 10: 24,162,995 (GRCm39) I486F probably damaging Het
Notch3 G T 17: 32,372,835 (GRCm39) R579S possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Or6c65 T C 10: 129,604,250 (GRCm39) V295A probably damaging Het
Or8b4 A G 9: 37,830,861 (GRCm39) T308A probably benign Het
Pira13 T C 7: 3,827,753 (GRCm39) T135A probably damaging Het
Recql4 C T 15: 76,592,785 (GRCm39) C302Y probably damaging Het
Reg3b G A 6: 78,349,104 (GRCm39) V77I possibly damaging Het
Terb1 T C 8: 105,212,079 (GRCm39) T301A probably benign Het
Tmem260 G A 14: 48,742,785 (GRCm39) C540Y probably damaging Het
Tmprss15 A T 16: 78,831,201 (GRCm39) F385I probably damaging Het
Trbv12-2 G A 6: 41,095,774 (GRCm39) probably benign Het
Upk3bl T A 5: 136,089,133 (GRCm39) Y196* probably null Het
Vmn1r199 A T 13: 22,567,748 (GRCm39) K304N probably benign Het
Other mutations in Gspt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1994:Gspt2 UTSW X 93,681,025 (GRCm39) missense possibly damaging 0.94
Z1176:Gspt2 UTSW X 93,681,074 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGCTCACACCATGGATCTCG -3'
(R):5'- GGTAACAACTGAACTGGAACCCTC -3'

Sequencing Primer
(F):5'- ACCATGGATCTCGGCAGCAG -3'
(R):5'- TGAACTGGAACCCTCCCACG -3'
Posted On 2016-12-20