Incidental Mutation 'IGL01754:Gpsm2'
ID 153424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpsm2
Ensembl Gene ENSMUSG00000027883
Gene Name G-protein signalling modulator 2 (AGS3-like, C. elegans)
Synonyms 6230410J09Rik, LGN, Pins
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # IGL01754
Quality Score
Status
Chromosome 3
Chromosomal Location 108585954-108629625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108610361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 33 (R33H)
Ref Sequence ENSEMBL: ENSMUSP00000029482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029482] [ENSMUST00000145558]
AlphaFold Q8VDU0
PDB Structure Structures of the LGN/NuMA complex [X-RAY DIFFRACTION]
crystal structure of LGN/mInscuteable complex [X-RAY DIFFRACTION]
Structure complex of LGN binding with FRMPD1 [X-RAY DIFFRACTION]
Structure of LGN GL4/Galphai3(Q147L) complex [X-RAY DIFFRACTION]
Structure of LGN GL4/Galphai1 complex [X-RAY DIFFRACTION]
Structure of LGN GL4/Galphai3 complex [X-RAY DIFFRACTION]
Structure of LGN GL3/Galphai3 complex [X-RAY DIFFRACTION]
An auto-inhibited conformation of LGN reveals a distinct interaction mode between GoLoco motifs and TPR motifs [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000029482
AA Change: R33H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029482
Gene: ENSMUSG00000027883
AA Change: R33H

DomainStartEndE-ValueType
TPR 62 95 7.86e-3 SMART
TPR 102 135 4.34e-5 SMART
Blast:TPR 142 188 9e-22 BLAST
TPR 202 235 1.69e-2 SMART
TPR 242 275 3.99e-4 SMART
TPR 282 315 1.51e-4 SMART
TPR 322 355 1.04e-2 SMART
GoLoco 490 512 3.69e-9 SMART
low complexity region 518 527 N/A INTRINSIC
GoLoco 543 565 7.27e-8 SMART
GoLoco 594 616 2.31e-10 SMART
GoLoco 628 650 2.75e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124043
Predicted Effect probably damaging
Transcript: ENSMUST00000145558
AA Change: R33H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115759
Gene: ENSMUSG00000027883
AA Change: R33H

DomainStartEndE-ValueType
Blast:TPR 24 57 1e-10 BLAST
Pfam:TPR_8 61 84 1.5e-2 PFAM
Pfam:TPR_10 61 101 3.6e-5 PFAM
Pfam:TPR_1 62 86 7.6e-6 PFAM
Pfam:TPR_2 62 94 2e-5 PFAM
Pfam:TPR_7 64 99 1e-4 PFAM
Pfam:TPR_12 101 154 4.6e-10 PFAM
Pfam:TPR_2 102 134 7e-4 PFAM
Pfam:TPR_1 102 135 2.2e-8 PFAM
Pfam:TPR_8 102 136 5.8e-3 PFAM
Pfam:TPR_7 104 139 4.3e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154263
Meta Mutation Damage Score 0.4972 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Targeted disruption of this gene randomizes the spindle orientation of normally planar neuroepithelial divisions. The ensuing loss of the apical membrane from daughter cells frequently converts them into abnormally localized progenitors with no apparent effect on neuronal production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A G 8: 112,708,942 (GRCm39) C294R probably damaging Het
Afap1l1 A G 18: 61,870,565 (GRCm39) probably null Het
Art2a C T 7: 101,204,059 (GRCm39) V160M probably damaging Het
Atp8b3 T C 10: 80,366,795 (GRCm39) probably null Het
Cwc22 A G 2: 77,754,883 (GRCm39) I231T probably damaging Het
Efr3a C A 15: 65,726,569 (GRCm39) A554E probably damaging Het
Fads2b T C 2: 85,348,899 (GRCm39) Q71R probably damaging Het
Fam3b T C 16: 97,277,607 (GRCm39) T76A probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gm4454 T C 7: 38,268,386 (GRCm39) T253A probably damaging Het
Igkv5-39 A G 6: 69,877,661 (GRCm39) S12P probably damaging Het
Itga10 G A 3: 96,564,091 (GRCm39) probably benign Het
Kng1 A T 16: 22,898,364 (GRCm39) D407V probably benign Het
Lrrd1 A G 5: 3,901,432 (GRCm39) D579G probably damaging Het
Plcg1 C A 2: 160,603,353 (GRCm39) Q1175K probably damaging Het
Scml4 T A 10: 42,833,746 (GRCm39) probably benign Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc5a4b A G 10: 75,906,449 (GRCm39) L390P probably damaging Het
Tectb A G 19: 55,172,445 (GRCm39) Q164R probably damaging Het
Trim52 C T 14: 106,344,623 (GRCm39) Q94* probably null Het
Usp17ld A C 7: 102,899,870 (GRCm39) V354G probably benign Het
Usp43 T C 11: 67,747,007 (GRCm39) H895R probably benign Het
Vmn2r24 T C 6: 123,781,120 (GRCm39) L442P probably damaging Het
Other mutations in Gpsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Gpsm2 APN 3 108,604,303 (GRCm39) missense probably benign 0.00
IGL02624:Gpsm2 APN 3 108,589,349 (GRCm39) missense probably benign 0.01
IGL03005:Gpsm2 APN 3 108,594,322 (GRCm39) splice site probably benign
R0482:Gpsm2 UTSW 3 108,609,710 (GRCm39) splice site probably benign
R1793:Gpsm2 UTSW 3 108,608,225 (GRCm39) missense probably benign 0.14
R1796:Gpsm2 UTSW 3 108,609,166 (GRCm39) missense probably damaging 0.99
R4174:Gpsm2 UTSW 3 108,609,825 (GRCm39) missense probably damaging 1.00
R7048:Gpsm2 UTSW 3 108,610,361 (GRCm39) missense probably damaging 1.00
R7325:Gpsm2 UTSW 3 108,610,244 (GRCm39) missense probably damaging 1.00
R7400:Gpsm2 UTSW 3 108,587,004 (GRCm39) missense probably damaging 1.00
R7574:Gpsm2 UTSW 3 108,608,061 (GRCm39) missense probably damaging 0.98
R7657:Gpsm2 UTSW 3 108,608,061 (GRCm39) missense probably damaging 0.98
R7709:Gpsm2 UTSW 3 108,609,097 (GRCm39) missense probably benign 0.08
R8181:Gpsm2 UTSW 3 108,597,080 (GRCm39) critical splice donor site probably null
R8511:Gpsm2 UTSW 3 108,589,399 (GRCm39) missense probably benign 0.00
R8880:Gpsm2 UTSW 3 108,610,335 (GRCm39) missense possibly damaging 0.81
R9399:Gpsm2 UTSW 3 108,590,090 (GRCm39) nonsense probably null
R9439:Gpsm2 UTSW 3 108,610,397 (GRCm39) missense probably damaging 1.00
Z1088:Gpsm2 UTSW 3 108,608,076 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04