Incidental Mutation 'R4786:Gpsm1'
ID 367055
Institutional Source Beutler Lab
Gene Symbol Gpsm1
Ensembl Gene ENSMUSG00000026930
Gene Name G-protein signalling modulator 1 (AGS3-like, C. elegans)
Synonyms Ags3, 1810037C22Rik
MMRRC Submission 041995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4786 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26205527-26238249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26212493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 78 (A78T)
Ref Sequence ENSEMBL: ENSMUSP00000067964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066889] [ENSMUST00000066936] [ENSMUST00000078616]
AlphaFold Q6IR34
Predicted Effect probably benign
Transcript: ENSMUST00000066889
AA Change: A78T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: A78T

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 benign
Transcript: ENSMUST00000066936
AA Change: A46T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: A46T

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 benign
Transcript: ENSMUST00000078616
AA Change: A46T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
AA Change: A46T

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 probably benign
Transcript: ENSMUST00000145884
SMART Domains Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,106,321 (GRCm39) I134N possibly damaging Het
Acvr1c T C 2: 58,170,366 (GRCm39) Y414C probably damaging Het
Adam32 A C 8: 25,353,509 (GRCm39) S693R probably damaging Het
Aldh2 A T 5: 121,710,887 (GRCm39) F314Y probably benign Het
Anks1 A G 17: 28,271,704 (GRCm39) D874G possibly damaging Het
Ap4b1 T A 3: 103,726,120 (GRCm39) V372E probably benign Het
Aqp12 G A 1: 92,934,177 (GRCm39) C18Y probably damaging Het
Arap1 T A 7: 101,034,212 (GRCm39) I218N possibly damaging Het
Arhgap42 C A 9: 9,238,703 (GRCm39) E28* probably null Het
Asb5 G A 8: 55,038,874 (GRCm39) E247K probably benign Het
Atg9b T C 5: 24,591,087 (GRCm39) D781G possibly damaging Het
Atxn10 A G 15: 85,271,344 (GRCm39) H294R probably benign Het
Bod1l G T 5: 41,976,781 (GRCm39) T1511K probably benign Het
Btnl2 A T 17: 34,582,322 (GRCm39) N296I probably damaging Het
Camta1 A T 4: 151,374,496 (GRCm39) L168H probably damaging Het
Cant1 A T 11: 118,299,665 (GRCm39) V265E possibly damaging Het
Ccdc157 T C 11: 4,101,861 (GRCm39) D20G probably damaging Het
Cd209c T G 8: 3,995,698 (GRCm39) T35P possibly damaging Het
Cdc20b G A 13: 113,215,268 (GRCm39) V279M probably damaging Het
Cdh18 T A 15: 23,410,873 (GRCm39) W453R probably null Het
Cdh24 A G 14: 54,875,007 (GRCm39) S333P possibly damaging Het
Ceacam11 T C 7: 17,706,239 (GRCm39) probably null Het
Ciz1 C T 2: 32,267,539 (GRCm39) P150L probably damaging Het
Crip3 C A 17: 46,741,968 (GRCm39) Q152K possibly damaging Het
Dars2 G A 1: 160,888,330 (GRCm39) R197W probably damaging Het
Dctn4 A G 18: 60,688,267 (GRCm39) D394G probably damaging Het
Dido1 T C 2: 180,312,664 (GRCm39) Y1077C possibly damaging Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egln3 A T 12: 54,232,367 (GRCm39) I146N probably damaging Het
Eif2ak3 C T 6: 70,869,602 (GRCm39) T763M possibly damaging Het
Etfbkmt A T 6: 149,048,744 (GRCm39) M1L probably benign Het
Fam171a1 A T 2: 3,226,615 (GRCm39) I583F probably damaging Het
Fbxo38 A C 18: 62,662,745 (GRCm39) L249W probably damaging Het
Fxyd5 T C 7: 30,740,907 (GRCm39) probably benign Het
Gabrr3 C A 16: 59,250,463 (GRCm39) T154K probably benign Het
Gm7233 C A 14: 43,038,347 (GRCm39) D90E probably benign Het
Gm8186 A G 17: 26,318,014 (GRCm39) V61A probably benign Het
Gnao1 A G 8: 94,670,931 (GRCm39) I137V probably benign Het
Gnptab A G 10: 88,272,044 (GRCm39) M945V probably damaging Het
Gtf2b T C 3: 142,487,230 (GRCm39) L222P probably damaging Het
Hnrnpf A G 6: 117,900,857 (GRCm39) Y47C probably damaging Het
Itga6 A G 2: 71,669,034 (GRCm39) N608S possibly damaging Het
Kdm2b T C 5: 123,018,917 (GRCm39) probably null Het
Krit1 T A 5: 3,862,467 (GRCm39) H207Q possibly damaging Het
Ky A G 9: 102,419,186 (GRCm39) N398D probably benign Het
Lama1 T A 17: 68,080,854 (GRCm39) V1294E possibly damaging Het
Lef1 C T 3: 130,905,173 (GRCm39) T18I probably damaging Het
Lrp2 T C 2: 69,368,300 (GRCm39) N178S probably damaging Het
Lrrc36 A G 8: 106,181,910 (GRCm39) T525A probably benign Het
Map3k8 A T 18: 4,340,647 (GRCm39) C222* probably null Het
Mapre2 G C 18: 24,011,016 (GRCm39) S199T probably benign Het
Mcm3ap A G 10: 76,324,300 (GRCm39) N911S probably benign Het
Mroh4 G T 15: 74,482,083 (GRCm39) H722Q probably benign Het
Muc21 A T 17: 35,930,221 (GRCm39) probably benign Het
Myo5b A C 18: 74,828,451 (GRCm39) Y701S probably benign Het
Myt1l G T 12: 29,861,457 (GRCm39) V80L unknown Het
Ncoa7 C A 10: 30,531,638 (GRCm39) V24L probably benign Het
Nlrp10 A T 7: 108,524,445 (GRCm39) V345D probably damaging Het
Nmral1 C A 16: 4,534,288 (GRCm39) G51V probably damaging Het
Npc1 A G 18: 12,332,554 (GRCm39) I797T probably benign Het
Or4x6 A T 2: 89,949,351 (GRCm39) I197N possibly damaging Het
Or8g22 T A 9: 38,958,783 (GRCm39) R22* probably null Het
Or8g34 A T 9: 39,373,137 (GRCm39) I134L probably benign Het
Pclo A T 5: 14,773,281 (GRCm39) I4419F unknown Het
Phf3 C A 1: 30,855,638 (GRCm39) E983* probably null Het
Pitpnm2 A T 5: 124,259,806 (GRCm39) Y1149* probably null Het
Sdc3 A T 4: 130,550,079 (GRCm39) T430S probably damaging Het
Sema3f A G 9: 107,559,881 (GRCm39) V671A probably benign Het
Sigirr T G 7: 140,671,346 (GRCm39) S379R probably benign Het
Slc25a23 T A 17: 57,354,326 (GRCm39) N360I possibly damaging Het
Slco6c1 A T 1: 97,015,720 (GRCm39) M357K probably benign Het
Sox14 C A 9: 99,757,018 (GRCm39) M240I probably benign Het
Stradb A T 1: 59,030,367 (GRCm39) probably benign Het
Szt2 A T 4: 118,256,259 (GRCm39) M200K probably benign Het
Tef T C 15: 81,699,453 (GRCm39) S85P probably benign Het
Thada T A 17: 84,766,283 (GRCm39) H41L possibly damaging Het
Tinagl1 A G 4: 130,067,724 (GRCm39) F90S probably benign Het
Tnfaip1 G A 11: 78,421,045 (GRCm39) T5I possibly damaging Het
Tnfrsf23 A T 7: 143,233,801 (GRCm39) V59D probably damaging Het
Tnpo3 A G 6: 29,578,541 (GRCm39) V311A probably benign Het
Trak1 T A 9: 121,301,560 (GRCm39) M772K probably benign Het
Ubash3a A G 17: 31,436,938 (GRCm39) D185G probably benign Het
Vmn2r120 T C 17: 57,829,048 (GRCm39) T516A probably benign Het
Wdr4 A C 17: 31,728,785 (GRCm39) L130R probably damaging Het
Zfp12 T C 5: 143,231,257 (GRCm39) I528T probably damaging Het
Zfp607a T C 7: 27,578,838 (GRCm39) L636P 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
IGL02982:Gpsm1 APN 2 26,214,871 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTGTTGGGTCCAGGATCTG -3'
(R):5'- ACCAGGACAATGCCATCAGG -3'

Sequencing Primer
(F):5'- TCTGAGCATGAACTCCCAGCTG -3'
(R):5'- GGCCACAATCCACCAGTACTTAC -3'
Posted On 2015-12-29