Incidental Mutation 'R1271:Gpsm1'
ID 151297
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 039337-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1271 (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 T at 26234684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 507 (R507L)
Ref Sequence ENSEMBL: ENSMUSP00000065000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028295] [ENSMUST00000066889] [ENSMUST00000066936] [ENSMUST00000078616] [ENSMUST00000114134] [ENSMUST00000127453]
AlphaFold Q6IR34
Predicted Effect probably benign
Transcript: ENSMUST00000028295
SMART Domains Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467

DomainStartEndE-ValueType
low complexity region 38 67 N/A INTRINSIC
Pfam:zf-DNL 74 139 4.1e-34 PFAM
low complexity region 158 172 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000066889
AA Change: R539L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: R539L

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: R507L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: R507L

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 possibly damaging
Transcript: ENSMUST00000078616
AA Change: R447L

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
AA Change: R447L

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 probably damaging
Transcript: ENSMUST00000114134
AA Change: R70L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109769
Gene: ENSMUSG00000026930
AA Change: R70L

DomainStartEndE-ValueType
GoLoco 56 78 7.38e-9 SMART
low complexity region 79 91 N/A INTRINSIC
GoLoco 109 131 4.24e-9 SMART
GoLoco 157 179 5.22e-9 SMART
GoLoco 191 213 3.58e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123981
Predicted Effect unknown
Transcript: ENSMUST00000145884
AA Change: R330L
SMART Domains Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930
AA Change: R330L

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: ENSMUST00000125848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153064
Predicted Effect probably benign
Transcript: ENSMUST00000127453
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik A T 1: 52,964,493 (GRCm39) D78E possibly damaging Het
4930447C04Rik A T 12: 72,939,657 (GRCm39) F419I possibly damaging Het
Abca14 T C 7: 119,924,340 (GRCm39) V1664A probably damaging Het
Acadvl A G 11: 69,905,526 (GRCm39) S71P probably damaging Het
Adcy2 A T 13: 68,790,617 (GRCm39) C916S probably damaging Het
Atad2 T C 15: 57,989,985 (GRCm39) T164A probably benign Het
Ccdc18 A T 5: 108,349,982 (GRCm39) K1045* probably null Het
Cemip2 T A 19: 21,801,268 (GRCm39) I795N possibly damaging Het
Cfap43 C T 19: 47,728,183 (GRCm39) E1525K probably benign Het
Cfap43 G T 19: 47,736,387 (GRCm39) S1368Y probably damaging Het
Csmd3 T A 15: 47,874,455 (GRCm39) I610L probably benign Het
Des A T 1: 75,337,290 (GRCm39) T77S probably benign Het
Fnip1 T C 11: 54,394,123 (GRCm39) V853A probably benign Het
Gabrg1 T A 5: 70,934,487 (GRCm39) D292V probably damaging Het
Gcm1 A G 9: 77,966,859 (GRCm39) N26S probably benign Het
H2-M1 T A 17: 36,982,137 (GRCm39) T155S probably benign Het
Hapln3 T C 7: 78,767,764 (GRCm39) D210G probably damaging Het
Magel2 T C 7: 62,030,762 (GRCm39) L1222P unknown Het
Mphosph10 A T 7: 64,039,832 (GRCm39) probably null Het
Mup6 A T 4: 60,003,579 (GRCm39) probably benign Het
Nsmce1 T A 7: 125,070,426 (GRCm39) E128D probably damaging Het
Or4c11 T A 2: 88,695,475 (GRCm39) Y175* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sorbs2 T A 8: 46,249,004 (GRCm39) S733T probably damaging Het
Stxbp5 A T 10: 9,692,013 (GRCm39) I377K probably damaging Het
Tnfsf4 T A 1: 161,223,274 (GRCm39) L41Q probably damaging Het
Tut7 A C 13: 59,969,669 (GRCm39) N75K probably damaging Het
Usp28 G A 9: 48,947,261 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- CATTCTGTTAGGGATGGCAGCACC -3'
(R):5'- ATGCAGCTTCAGGGACAAGTGTGG -3'

Sequencing Primer
(F):5'- ATGGCAGCACCTGGGAG -3'
(R):5'- ATGACAGAGGCCCTTTGC -3'
Posted On 2014-01-29