Incidental Mutation 'R9439:Gpsm2'
ID 713420
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R9439 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 108585954-108629625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108610397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 21 (E21V)
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: E21V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029482
Gene: ENSMUSG00000027883
AA Change: E21V

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: E21V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115759
Gene: ENSMUSG00000027883
AA Change: E21V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,048 (GRCm39) E412D probably benign Het
Aak1 T A 6: 86,933,274 (GRCm39) V415D probably damaging Het
Ache A C 5: 137,289,185 (GRCm39) D297A probably damaging Het
Armc9 T C 1: 86,084,687 (GRCm39) I4T possibly damaging Het
Atp8b2 T A 3: 89,851,492 (GRCm39) Y925F Het
Avpr1b T C 1: 131,528,029 (GRCm39) L184P probably damaging Het
Cabin1 G A 10: 75,581,069 (GRCm39) P419L probably damaging Het
Ccdc88c T C 12: 100,884,597 (GRCm39) S1578G probably benign Het
Ccnd2 A T 6: 127,127,617 (GRCm39) C40* probably null Het
Col6a3 A T 1: 90,744,155 (GRCm39) I471N probably damaging Het
Cp A G 3: 20,046,671 (GRCm39) probably null Het
Cyfip2 C T 11: 46,091,668 (GRCm39) R1084Q probably damaging Het
Diaph1 A G 18: 38,029,412 (GRCm39) probably null Het
Dnah6 T C 6: 73,012,330 (GRCm39) N3713S possibly damaging Het
Dot1l G T 10: 80,621,438 (GRCm39) R633L possibly damaging Het
Ehmt1 A T 2: 24,715,030 (GRCm39) M809K probably damaging Het
Fcgbp C A 7: 27,803,436 (GRCm39) A1680E possibly damaging Het
Flt1 A G 5: 147,515,207 (GRCm39) F1072L probably damaging Het
Gm19410 G T 8: 36,248,810 (GRCm39) A549S probably damaging Het
Gm57859 C T 11: 113,583,229 (GRCm39) Q519* probably null Het
Gnat1 A T 9: 107,553,511 (GRCm39) I249N Het
Gp2 T C 7: 119,053,433 (GRCm39) Y176C probably damaging Het
Gpc2 G T 5: 138,277,248 (GRCm39) Q60K probably benign Het
Igkv4-80 T A 6: 68,993,793 (GRCm39) M33L probably benign Het
Il20ra C A 10: 19,618,751 (GRCm39) H66Q probably benign Het
Kap C T 6: 133,828,950 (GRCm39) D61N probably benign Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Mpp7 A T 18: 7,461,692 (GRCm39) Y60* probably null Het
Neil1 T A 9: 57,051,098 (GRCm39) R294* probably null Het
Nkx6-3 A G 8: 23,643,778 (GRCm39) S60G probably benign Het
Noc2l T A 4: 156,326,130 (GRCm39) S406T possibly damaging Het
Or11m3 T C 15: 98,396,247 (GRCm39) V298A possibly damaging Het
Or14j2 A G 17: 37,885,825 (GRCm39) I163T probably benign Het
Or2h2c A G 17: 37,422,205 (GRCm39) V223A probably damaging Het
Or2t46 T C 11: 58,472,104 (GRCm39) C145R probably benign Het
Or51ac3 T G 7: 103,214,049 (GRCm39) I146L probably benign Het
Or5p81 T C 7: 108,266,626 (GRCm39) M1T probably null Het
Paqr4 A G 17: 23,958,939 (GRCm39) F21L probably damaging Het
Pcdha9 A G 18: 37,131,527 (GRCm39) T199A probably benign Het
Pcdhgb7 T C 18: 37,884,917 (GRCm39) L29P probably benign Het
Pfkl G A 10: 77,831,172 (GRCm39) A323V probably damaging Het
Pik3r4 C A 9: 105,528,041 (GRCm39) P465T probably damaging Het
Pitpnm2 A G 5: 124,274,189 (GRCm39) S307P probably damaging Het
Pitpnm2 A G 5: 124,278,659 (GRCm39) Y191H probably damaging Het
Plod3 G A 5: 137,023,036 (GRCm39) V613I probably benign Het
Prr23a2 C T 9: 98,738,921 (GRCm39) T93I probably damaging Het
Ptk6 T A 2: 180,840,206 (GRCm39) M267L possibly damaging Het
Rabl6 C T 2: 25,492,432 (GRCm39) probably null Het
Ralgapa2 T C 2: 146,254,058 (GRCm39) H787R probably benign Het
Rfx8 T G 1: 39,724,669 (GRCm39) M231L probably benign Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Smpd4 A G 16: 17,459,451 (GRCm39) I625V probably benign Het
Tcf7l1 A G 6: 72,765,740 (GRCm39) S66P probably damaging Het
Tsc22d1 G A 14: 76,743,899 (GRCm39) V1007M probably damaging Het
Tspoap1 C T 11: 87,665,535 (GRCm39) R758C probably damaging Het
Vmn1r210 A C 13: 23,011,397 (GRCm39) H296Q possibly damaging Het
Zfp532 G A 18: 65,818,714 (GRCm39) V857I probably benign Het
Zfyve9 T C 4: 108,501,538 (GRCm39) T593A probably benign 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
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
Z1088:Gpsm2 UTSW 3 108,608,076 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCGTGCAAGAGTTAAGTCATGG -3'
(R):5'- AATCGGAGTAGGCACATTGG -3'

Sequencing Primer
(F):5'- AAGTCATGGTGGTGGTATTCTAAC -3'
(R):5'- GCACATTGGCTGTTGCTAC -3'
Posted On 2022-05-16