Incidental Mutation 'R1796:Gpsm2'
ID 202231
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 039826-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R1796 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 108585954-108629625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108609166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 151 (V151A)
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: V151A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029482
Gene: ENSMUSG00000027883
AA Change: V151A

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: V151A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115759
Gene: ENSMUSG00000027883
AA Change: V151A

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,662,156 (GRCm39) S30F probably benign Het
Abtb1 T C 6: 88,813,601 (GRCm39) D379G possibly damaging Het
Adgre1 A G 17: 57,748,350 (GRCm39) I517V probably benign Het
Ajm1 C T 2: 25,468,000 (GRCm39) G637D probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt4 G A 2: 151,780,909 (GRCm39) V386M probably damaging Het
Asic1 A G 15: 99,594,535 (GRCm39) H360R probably null Het
Asxl1 G A 2: 153,243,526 (GRCm39) A1359T probably benign Het
Atp8a2 C T 14: 60,258,207 (GRCm39) probably null Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
C1qtnf2 T A 11: 43,382,114 (GRCm39) F279I probably damaging Het
Car8 A T 4: 8,221,671 (GRCm39) L100* probably null Het
Cd52 T C 4: 133,822,295 (GRCm39) M1V probably null Het
Celf5 T C 10: 81,303,053 (GRCm39) I163V possibly damaging Het
Cep250 A T 2: 155,834,107 (GRCm39) T2010S possibly damaging Het
Cfap65 C T 1: 74,958,107 (GRCm39) V934M probably damaging Het
Colec11 A T 12: 28,644,858 (GRCm39) I212N probably damaging Het
Cpa3 C T 3: 20,277,391 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,445,553 (GRCm39) H495N probably damaging Het
Cyb5a T C 18: 84,869,686 (GRCm39) V28A probably benign Het
Ddo A T 10: 40,523,625 (GRCm39) Q205L probably benign Het
Dnah1 T A 14: 30,983,050 (GRCm39) N4195I probably benign Het
E2f1 A T 2: 154,402,849 (GRCm39) V306E probably benign Het
Ece1 C T 4: 137,685,312 (GRCm39) R601W probably damaging Het
Eef1d A C 15: 75,773,024 (GRCm39) F25C probably damaging Het
Ehd3 A T 17: 74,137,354 (GRCm39) I508F probably damaging Het
Eml6 T A 11: 29,831,975 (GRCm39) I232F probably benign Het
Enc1 T A 13: 97,382,991 (GRCm39) D500E probably benign Het
Enc1 C A 13: 97,382,993 (GRCm39) T501K possibly damaging Het
Fam83f C T 15: 80,574,283 (GRCm39) R213W possibly damaging Het
Fbxo31 A T 8: 122,287,177 (GRCm39) L158* probably null Het
Fcgbpl1 C T 7: 27,854,797 (GRCm39) P1808S probably damaging Het
Foxi3 C A 6: 70,937,794 (GRCm39) T342N possibly damaging Het
Gpr179 T A 11: 97,227,382 (GRCm39) D1591V possibly damaging Het
Grk2 T G 19: 4,337,968 (GRCm39) I513L probably benign Het
H2-Ab1 A G 17: 34,486,346 (GRCm39) E135G probably damaging Het
Herc1 A T 9: 66,296,138 (GRCm39) K578* probably null Het
Hycc1 T G 5: 24,191,149 (GRCm39) T173P probably damaging Het
Itpr2 T C 6: 146,198,171 (GRCm39) N1533S probably benign Het
Kif3c A G 12: 3,417,299 (GRCm39) N440S probably benign Het
Klhdc2 T C 12: 69,347,071 (GRCm39) probably null Het
Kmo G T 1: 175,465,461 (GRCm39) V72L probably benign Het
Krt71 A G 15: 101,651,315 (GRCm39) I56T possibly damaging Het
Krt72 T C 15: 101,689,987 (GRCm39) probably null Het
Krt78 T A 15: 101,859,300 (GRCm39) Q299L probably damaging Het
Loxhd1 C T 18: 77,493,603 (GRCm39) R1521C probably damaging Het
Loxhd1 G A 18: 77,513,335 (GRCm39) E1774K possibly damaging Het
Ly6g6f T C 17: 35,302,478 (GRCm39) S20G probably benign Het
Mecr T A 4: 131,592,382 (GRCm39) M282K probably damaging Het
Mfsd14a G T 3: 116,428,596 (GRCm39) A353D probably damaging Het
Mroh9 A T 1: 162,873,279 (GRCm39) N564K probably damaging Het
Mrs2 T A 13: 25,181,111 (GRCm39) T237S possibly damaging Het
Mycbpap A G 11: 94,398,377 (GRCm39) L534S probably damaging Het
Myh1 T C 11: 67,115,183 (GRCm39) I1906T probably benign Het
Myh4 T A 11: 67,151,150 (GRCm39) V1935D probably benign Het
Myo18a T C 11: 77,720,170 (GRCm39) I684T possibly damaging Het
Myo7b C T 18: 32,119,728 (GRCm39) R788H possibly damaging Het
Nbea A T 3: 55,551,129 (GRCm39) D2678E possibly damaging Het
Ndufs3 A C 2: 90,729,050 (GRCm39) Y145* probably null Het
Nrros A G 16: 31,962,329 (GRCm39) F563L probably damaging Het
Ntn4 T C 10: 93,581,633 (GRCm39) V602A probably damaging Het
Obscn C A 11: 58,920,163 (GRCm39) R6736L possibly damaging Het
Odr4 T C 1: 150,251,305 (GRCm39) N283S probably benign Het
Or13c7d T A 4: 43,770,495 (GRCm39) D172V possibly damaging Het
Or2ag16 T C 7: 106,351,756 (GRCm39) I280V probably benign Het
Or7g22 C A 9: 19,049,213 (GRCm39) T308K probably benign Het
Or8d1 T A 9: 38,766,820 (GRCm39) V154D probably benign Het
Or8g54 C T 9: 39,707,301 (GRCm39) P210L possibly damaging Het
Or8g55 A G 9: 39,785,267 (GRCm39) E232G probably benign Het
Pik3cd A G 4: 149,738,576 (GRCm39) F751L possibly damaging Het
Plekhh2 A G 17: 84,906,561 (GRCm39) probably null Het
Postn A G 3: 54,281,177 (GRCm39) H434R probably damaging Het
Prss39 A G 1: 34,539,114 (GRCm39) D118G possibly damaging Het
Ralyl G T 3: 14,208,493 (GRCm39) G211V possibly damaging Het
Rbak T A 5: 143,159,202 (GRCm39) E617V probably damaging Het
Rbms3 A T 9: 116,548,401 (GRCm39) W80R probably damaging Het
Retnlg A T 16: 48,694,610 (GRCm39) Y86F probably benign Het
Rtel1 T A 2: 180,993,896 (GRCm39) S643T probably benign Het
Semp2l2a A T 8: 13,886,816 (GRCm39) L425* probably null Het
Serpina11 A T 12: 103,950,954 (GRCm39) F256I probably damaging Het
Setd2 A T 9: 110,446,884 (GRCm39) probably null Het
Setd2 A T 9: 110,379,413 (GRCm39) Y1076F probably benign Het
Sgsm1 T C 5: 113,421,483 (GRCm39) T248A possibly damaging Het
Slc6a21 T C 7: 44,930,179 (GRCm39) Y193H probably damaging Het
Slfn9 T C 11: 82,872,781 (GRCm39) K652E probably benign Het
Stt3b A T 9: 115,077,675 (GRCm39) Y692* probably null Het
Sval3 A G 6: 41,945,096 (GRCm39) Q8R probably benign Het
Synm T A 7: 67,383,748 (GRCm39) I1305F possibly damaging Het
Tdrd1 T C 19: 56,826,215 (GRCm39) F169L probably damaging Het
Tecta T A 9: 42,295,493 (GRCm39) D334V probably damaging Het
Tle2 G A 10: 81,425,331 (GRCm39) probably null Het
Tmem243 A G 5: 9,166,489 (GRCm39) I30V probably benign Het
Treml2 T C 17: 48,616,530 (GRCm39) *330R probably null Het
Trpm6 A G 19: 18,804,931 (GRCm39) D961G possibly damaging Het
Ubr4 T C 4: 139,155,907 (GRCm39) V2244A probably benign Het
Unc79 G T 12: 103,109,005 (GRCm39) V2148F probably damaging Het
Ush2a A C 1: 188,643,024 (GRCm39) T4129P probably benign Het
Vgll2 G A 10: 51,901,324 (GRCm39) V85I probably damaging Het
Vmn1r16 T C 6: 57,300,256 (GRCm39) Y122C probably benign Het
Vmn1r22 A T 6: 57,877,134 (GRCm39) I91N probably damaging Het
Vmn2r70 A T 7: 85,213,011 (GRCm39) Y465* probably null Het
Wdr64 A T 1: 175,544,897 (GRCm39) E110V probably damaging Het
Wfdc6a A T 2: 164,422,231 (GRCm39) C123S probably damaging Het
Xrcc1 A G 7: 24,247,252 (GRCm39) Y30C probably damaging Het
Zdhhc7 T C 8: 120,812,157 (GRCm39) K155R probably benign Het
Zfp560 A G 9: 20,263,226 (GRCm39) F50S possibly damaging Het
Zfp616 C T 11: 73,976,671 (GRCm39) T980I probably damaging Het
Zfp808 C T 13: 62,319,670 (GRCm39) P300S probably damaging Het
Zfp979 G A 4: 147,697,740 (GRCm39) T323I 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
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
Predicted Primers PCR Primer
(F):5'- TCAGAAACTTGGAAATCTCCTGAG -3'
(R):5'- CGTCCTTTTCTTGATAATAGTACTGGG -3'

Sequencing Primer
(F):5'- CTTGGAAATCTCCTGAGTAAACAC -3'
(R):5'- TCACTGGGTAAGGACACTTGC -3'
Posted On 2014-06-23