Incidental Mutation 'R7325:Gpsm2'
ID 568806
Institutional Source Beutler Lab
Gene Symbol Gpsm2
Ensembl Gene ENSMUSG00000027883
Gene Name G-protein signalling modulator 2 (AGS3-like, C. elegans)
Synonyms 6230410J09Rik, LGN, Pins
MMRRC Submission 045419-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R7325 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 108585954-108629625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108610244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 72 (Y72C)
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: Y72C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029482
Gene: ENSMUSG00000027883
AA Change: Y72C

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 probably damaging
Transcript: ENSMUST00000145558
AA Change: Y72C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115759
Gene: ENSMUSG00000027883
AA Change: Y72C

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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,571,711 (GRCm39) Q402L probably benign Het
Afap1l1 T C 18: 61,869,917 (GRCm39) T638A probably benign Het
Agtr1a A C 13: 30,565,890 (GRCm39) K318N possibly damaging Het
Anks1b A G 10: 90,777,294 (GRCm39) T1095A probably damaging Het
Ap3d1 A T 10: 80,559,637 (GRCm39) I207N probably damaging Het
Arhgef11 T C 3: 87,620,599 (GRCm39) L484P possibly damaging Het
Astn2 C T 4: 65,460,906 (GRCm39) S1076N probably benign Het
Baat C A 4: 49,490,213 (GRCm39) L290F probably benign Het
Boll T C 1: 55,343,757 (GRCm39) Y222C probably damaging Het
Bphl A T 13: 34,234,324 (GRCm39) I147F possibly damaging Het
Cadps2 T G 6: 23,409,934 (GRCm39) D766A unknown Het
Cd300lb T A 11: 114,815,858 (GRCm39) K210M probably damaging Het
Cdan1 T C 2: 120,555,185 (GRCm39) Q797R probably benign Het
Celsr1 T A 15: 85,917,209 (GRCm39) S255C probably damaging Het
Cfap91 T A 16: 38,141,963 (GRCm39) probably null Het
Cip2a T A 16: 48,826,184 (GRCm39) M417K probably benign Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Dennd5b T A 6: 148,922,068 (GRCm39) K815N probably benign Het
Exd1 A G 2: 119,350,620 (GRCm39) V547A probably benign Het
Fbxo15 C T 18: 84,977,243 (GRCm39) R52C probably damaging Het
Fip1l1 A G 5: 74,697,460 (GRCm39) probably null Het
Flg2 T A 3: 93,110,679 (GRCm39) N902K unknown Het
Fyttd1 T A 16: 32,704,618 (GRCm39) N76K probably benign Het
Gins1 T A 2: 150,758,086 (GRCm39) D57E probably benign Het
Gm5565 G C 5: 146,095,171 (GRCm39) probably null Het
Hace1 C A 10: 45,465,603 (GRCm39) S53* probably null Het
Insig2 A G 1: 121,234,666 (GRCm39) V188A possibly damaging Het
Ism1 T C 2: 139,598,963 (GRCm39) V312A probably damaging Het
Jmy A T 13: 93,609,251 (GRCm39) Y353N probably damaging Het
Maz A C 7: 126,624,725 (GRCm39) V265G probably benign Het
Mtmr14 T A 6: 113,246,509 (GRCm39) I426N probably damaging Het
Or1e34 C T 11: 73,779,101 (GRCm39) M32I probably benign Het
Or5b113 A G 19: 13,342,001 (GRCm39) E3G probably benign Het
Or8k22 A G 2: 86,163,344 (GRCm39) S119P possibly damaging Het
Pcdhac2 T A 18: 37,278,413 (GRCm39) N464K probably damaging Het
Pcdhb7 T A 18: 37,476,440 (GRCm39) H525Q probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Podn C T 4: 107,874,899 (GRCm39) probably null Het
Prim1 A G 10: 127,858,788 (GRCm39) D232G probably null Het
Prrt1 T A 17: 34,851,161 (GRCm39) M283K possibly damaging Het
Rgs9 A T 11: 109,167,407 (GRCm39) I65N probably damaging Het
Scgb2b26 C A 7: 33,643,782 (GRCm39) V53L probably benign Het
Shank2 C A 7: 143,965,422 (GRCm39) P1010Q probably benign Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc17a6 G T 7: 51,294,766 (GRCm39) A158S probably damaging Het
Slc9a9 C T 9: 94,594,951 (GRCm39) H154Y probably benign Het
Slco1a8 T C 6: 141,934,951 (GRCm39) K379E probably damaging Het
Slco2a1 T A 9: 102,962,948 (GRCm39) probably null Het
Snapc3 T C 4: 83,353,507 (GRCm39) I182T probably benign Het
Taok2 A G 7: 126,470,260 (GRCm39) V856A probably benign Het
Tep1 T A 14: 51,103,495 (GRCm39) N265I probably damaging Het
Tespa1 A T 10: 130,197,910 (GRCm39) N311Y probably damaging Het
Tpmt G A 13: 47,194,960 (GRCm39) Q14* probably null Het
Trim33 T C 3: 103,228,952 (GRCm39) F353L possibly damaging Het
Upp1 T C 11: 9,084,743 (GRCm39) V154A probably damaging Het
Usp34 T C 11: 23,369,052 (GRCm39) I1747T Het
Vmn1r47 T C 6: 89,999,254 (GRCm39) S129P probably benign Het
Vmn2r93 A G 17: 18,524,249 (GRCm39) Y81C probably benign Het
Ybx2 A T 11: 69,831,181 (GRCm39) T259S probably benign Het
Zfp536 T C 7: 37,179,285 (GRCm39) T1107A probably benign Het
Zfp583 C T 7: 6,319,585 (GRCm39) A476T probably damaging Het
Other mutations in Gpsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Gpsm2 APN 3 108,604,303 (GRCm39) missense probably benign 0.00
IGL01754:Gpsm2 APN 3 108,610,361 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGTTGCTCCATTACTAGTTTGC -3'
(R):5'- CTGATCCAGTTGTAATGTGTCTGTC -3'

Sequencing Primer
(F):5'- GCTCCATTACTAGTTTGCCTAAAAG -3'
(R):5'- TGTGTCTGTCATATATAATTCTGCAG -3'
Posted On 2019-09-13