Incidental Mutation 'IGL02982:Gpsm1'
ID 406589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpsm1
Ensembl Gene ENSMUSG00000026930
Gene Name G-protein signalling modulator 1 (AGS3-like, C. elegans)
Synonyms Ags3, 1810037C22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02982
Quality Score
Status
Chromosome 2
Chromosomal Location 26205527-26238249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26214871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 252 (L252Q)
Ref Sequence ENSEMBL: ENSMUSP00000077686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066889] [ENSMUST00000066936] [ENSMUST00000078616]
AlphaFold Q6IR34
Predicted Effect probably damaging
Transcript: ENSMUST00000066889
AA Change: L284Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: L284Q

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
TPR 98 131 1.45e-1 SMART
TPR 138 171 7.06e-5 SMART
TPR 238 271 5.96e-3 SMART
TPR 278 311 1.47e-2 SMART
TPR 318 351 5.19e-3 SMART
TPR 358 391 1.33e0 SMART
GoLoco 525 547 7.38e-9 SMART
low complexity region 548 560 N/A INTRINSIC
GoLoco 578 600 4.24e-9 SMART
GoLoco 626 648 5.22e-9 SMART
GoLoco 660 682 3.58e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066936
AA Change: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: L252Q

DomainStartEndE-ValueType
TPR 66 99 1.45e-1 SMART
TPR 106 139 7.06e-5 SMART
TPR 206 239 5.96e-3 SMART
TPR 246 279 1.47e-2 SMART
TPR 286 319 5.19e-3 SMART
TPR 326 359 1.33e0 SMART
GoLoco 493 515 7.38e-9 SMART
low complexity region 516 528 N/A INTRINSIC
GoLoco 546 568 4.24e-9 SMART
GoLoco 594 616 5.22e-9 SMART
GoLoco 628 650 3.58e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078616
AA Change: L252Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
AA Change: L252Q

DomainStartEndE-ValueType
TPR 66 99 1.45e-1 SMART
TPR 106 139 7.06e-5 SMART
TPR 206 239 5.96e-3 SMART
TPR 246 279 1.47e-2 SMART
TPR 286 319 5.19e-3 SMART
TPR 326 359 1.33e0 SMART
GoLoco 433 455 7.38e-9 SMART
low complexity region 456 468 N/A INTRINSIC
GoLoco 486 508 4.24e-9 SMART
GoLoco 534 556 5.22e-9 SMART
GoLoco 568 590 3.58e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132638
Predicted Effect unknown
Transcript: ENSMUST00000145884
AA Change: L127Q
SMART Domains Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930
AA Change: L127Q

DomainStartEndE-ValueType
Blast:TPR 22 68 1e-9 BLAST
Pfam:TPR_1 82 107 2.3e-4 PFAM
Pfam:TPR_12 82 147 7.9e-12 PFAM
Pfam:TPR_7 84 119 1.4e-5 PFAM
Pfam:TPR_2 122 147 6.2e-4 PFAM
Pfam:TPR_8 123 146 1.4e-2 PFAM
Blast:TPR 150 183 4e-15 BLAST
GoLoco 317 339 7.38e-9 SMART
low complexity region 340 352 N/A INTRINSIC
GoLoco 370 392 4.24e-9 SMART
GoLoco 418 440 5.22e-9 SMART
GoLoco 452 474 3.58e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153064
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Gpsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Gpsm1 APN 2 26,236,921 (GRCm39) missense probably damaging 1.00
IGL01826:Gpsm1 APN 2 26,216,314 (GRCm39) missense probably damaging 0.98
IGL02281:Gpsm1 APN 2 26,229,638 (GRCm39) splice site probably benign
IGL02730:Gpsm1 APN 2 26,215,390 (GRCm39) missense probably benign 0.13
IGL02740:Gpsm1 APN 2 26,230,585 (GRCm39) missense probably benign 0.43
IGL02749:Gpsm1 APN 2 26,229,687 (GRCm39) missense probably damaging 0.99
R1271:Gpsm1 UTSW 2 26,234,684 (GRCm39) missense probably damaging 0.99
R1639:Gpsm1 UTSW 2 26,235,199 (GRCm39) missense probably damaging 1.00
R1766:Gpsm1 UTSW 2 26,215,395 (GRCm39) missense probably damaging 1.00
R1854:Gpsm1 UTSW 2 26,234,725 (GRCm39) missense probably damaging 1.00
R2900:Gpsm1 UTSW 2 26,235,174 (GRCm39) missense probably benign 0.00
R2994:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R2995:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R2996:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4227:Gpsm1 UTSW 2 26,229,638 (GRCm39) splice site probably benign
R4391:Gpsm1 UTSW 2 26,214,009 (GRCm39) missense probably damaging 1.00
R4413:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4461:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4469:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4659:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4786:Gpsm1 UTSW 2 26,212,493 (GRCm39) missense probably benign 0.01
R5025:Gpsm1 UTSW 2 26,210,008 (GRCm39) missense possibly damaging 0.90
R5057:Gpsm1 UTSW 2 26,215,369 (GRCm39) missense probably damaging 0.96
R5171:Gpsm1 UTSW 2 26,217,476 (GRCm39) intron probably benign
R5356:Gpsm1 UTSW 2 26,230,574 (GRCm39) missense possibly damaging 0.73
R5417:Gpsm1 UTSW 2 26,214,045 (GRCm39) critical splice donor site probably null
R5967:Gpsm1 UTSW 2 26,230,546 (GRCm39) splice site probably null
R6153:Gpsm1 UTSW 2 26,215,425 (GRCm39) missense probably benign 0.14
R6969:Gpsm1 UTSW 2 26,230,555 (GRCm39) missense probably benign 0.01
R7006:Gpsm1 UTSW 2 26,212,572 (GRCm39) missense probably damaging 1.00
R7819:Gpsm1 UTSW 2 26,229,705 (GRCm39) missense probably damaging 0.98
R7867:Gpsm1 UTSW 2 26,230,448 (GRCm39) missense probably benign 0.38
R8194:Gpsm1 UTSW 2 26,217,364 (GRCm39) frame shift probably null
R8195:Gpsm1 UTSW 2 26,214,929 (GRCm39) splice site probably null
R8857:Gpsm1 UTSW 2 26,230,457 (GRCm39) missense possibly damaging 0.47
R9267:Gpsm1 UTSW 2 26,236,835 (GRCm39) missense probably damaging 1.00
R9281:Gpsm1 UTSW 2 26,214,488 (GRCm39) missense probably damaging 0.99
RF017:Gpsm1 UTSW 2 26,214,884 (GRCm39) missense probably damaging 1.00
Z1176:Gpsm1 UTSW 2 26,217,357 (GRCm39) missense possibly damaging 0.69
Posted On 2016-08-02