Incidental Mutation 'IGL01949:Rgs9'
ID 181021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs9
Ensembl Gene ENSMUSG00000020599
Gene Name regulator of G-protein signaling 9
Synonyms RGS9-1, Rgs9-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01949
Quality Score
Status
Chromosome 11
Chromosomal Location 109116181-109188955 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 109150660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020920] [ENSMUST00000106704] [ENSMUST00000106706]
AlphaFold O54828
Predicted Effect probably null
Transcript: ENSMUST00000020920
SMART Domains Protein: ENSMUSP00000020920
Gene: ENSMUSG00000020599

DomainStartEndE-ValueType
DEP 30 105 2.2e-16 SMART
G_gamma 216 280 5.01e-17 SMART
GGL 219 280 5.55e-23 SMART
RGS 299 414 4.47e-48 SMART
low complexity region 486 504 N/A INTRINSIC
low complexity region 562 574 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106704
AA Change: V216E

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102315
Gene: ENSMUSG00000020599
AA Change: V216E

DomainStartEndE-ValueType
DEP 30 105 2.2e-16 SMART
Blast:G_gamma 154 229 4e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000106706
SMART Domains Protein: ENSMUSP00000102317
Gene: ENSMUSG00000020599

DomainStartEndE-ValueType
DEP 30 105 2.2e-16 SMART
G_gamma 216 280 5.01e-17 SMART
GGL 219 280 5.55e-23 SMART
RGS 299 414 4.47e-48 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile; however, relative to wild-type, homozygous null photoreceptors display abnormally retarded recovery of their light responses, and slowed rates of GTP hydrolysis by transducin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,223,987 (GRCm39) R1247L probably benign Het
Atp2a3 T A 11: 72,872,723 (GRCm39) M757K probably damaging Het
Dusp5 T C 19: 53,525,904 (GRCm39) I182T probably damaging Het
Fuca1 T A 4: 135,650,420 (GRCm39) probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hap1 G T 11: 100,239,588 (GRCm39) D610E probably damaging Het
Hoxa6 T A 6: 52,183,511 (GRCm39) Y178F possibly damaging Het
Ighmbp2 A C 19: 3,315,538 (GRCm39) D627E probably benign Het
Itgae T C 11: 73,009,010 (GRCm39) I497T probably benign Het
Katnip G A 7: 125,361,014 (GRCm39) W108* probably null Het
Kbtbd3 A G 9: 4,331,066 (GRCm39) D480G possibly damaging Het
Kmt2b A T 7: 30,276,586 (GRCm39) probably null Het
Krt5 T A 15: 101,619,048 (GRCm39) M278L probably benign Het
Krtap4-9 G A 11: 99,676,391 (GRCm39) probably benign Het
Myl12a T C 17: 71,303,709 (GRCm39) D56G probably benign Het
Or2g25 T C 17: 37,970,357 (GRCm39) Y289C probably damaging Het
Pdgfra C A 5: 75,331,326 (GRCm39) H310Q probably damaging Het
Pglyrp2 G T 17: 32,635,080 (GRCm39) probably null Het
Polk C T 13: 96,620,046 (GRCm39) S718N probably benign Het
Ppip5k1 T A 2: 121,168,341 (GRCm39) H687L probably benign Het
Pram1 A T 17: 33,860,309 (GRCm39) Q292L probably damaging Het
Prodh2 A G 7: 30,209,190 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stk-ps2 A G 1: 46,069,148 (GRCm39) noncoding transcript Het
Svep1 C T 4: 58,176,006 (GRCm39) G298R probably damaging Het
Troap T C 15: 98,979,102 (GRCm39) S341P probably benign Het
Ugt3a1 T C 15: 9,335,815 (GRCm39) F12S probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp236 G T 18: 82,642,521 (GRCm39) T1123K probably damaging Het
Other mutations in Rgs9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Rgs9 APN 11 109,139,875 (GRCm39) splice site probably benign
IGL02479:Rgs9 APN 11 109,116,478 (GRCm39) missense possibly damaging 0.51
IGL03170:Rgs9 APN 11 109,150,681 (GRCm39) missense probably benign 0.10
R1368:Rgs9 UTSW 11 109,138,977 (GRCm39) missense probably benign 0.00
R1499:Rgs9 UTSW 11 109,159,747 (GRCm39) critical splice donor site probably null
R1780:Rgs9 UTSW 11 109,130,325 (GRCm39) nonsense probably null
R2422:Rgs9 UTSW 11 109,116,603 (GRCm39) critical splice acceptor site probably null
R2509:Rgs9 UTSW 11 109,159,798 (GRCm39) missense probably benign 0.00
R2510:Rgs9 UTSW 11 109,159,798 (GRCm39) missense probably benign 0.00
R2511:Rgs9 UTSW 11 109,159,798 (GRCm39) missense probably benign 0.00
R3932:Rgs9 UTSW 11 109,166,639 (GRCm39) splice site probably benign
R4179:Rgs9 UTSW 11 109,172,274 (GRCm39) critical splice donor site probably null
R4801:Rgs9 UTSW 11 109,131,694 (GRCm39) missense probably damaging 1.00
R4802:Rgs9 UTSW 11 109,131,694 (GRCm39) missense probably damaging 1.00
R4928:Rgs9 UTSW 11 109,116,570 (GRCm39) missense probably benign 0.08
R5073:Rgs9 UTSW 11 109,118,157 (GRCm39) missense probably benign 0.03
R5209:Rgs9 UTSW 11 109,130,420 (GRCm39) critical splice acceptor site probably null
R5286:Rgs9 UTSW 11 109,130,277 (GRCm39) splice site probably null
R5449:Rgs9 UTSW 11 109,116,570 (GRCm39) missense probably benign
R6046:Rgs9 UTSW 11 109,130,386 (GRCm39) missense probably damaging 1.00
R6267:Rgs9 UTSW 11 109,159,813 (GRCm39) missense probably benign 0.01
R6296:Rgs9 UTSW 11 109,159,813 (GRCm39) missense probably benign 0.01
R7325:Rgs9 UTSW 11 109,167,407 (GRCm39) missense probably damaging 1.00
R7453:Rgs9 UTSW 11 109,118,094 (GRCm39) missense probably damaging 1.00
R7864:Rgs9 UTSW 11 109,166,446 (GRCm39) missense probably damaging 1.00
R8035:Rgs9 UTSW 11 109,164,150 (GRCm39) missense probably benign 0.28
R8885:Rgs9 UTSW 11 109,166,449 (GRCm39) missense probably damaging 1.00
R8960:Rgs9 UTSW 11 109,139,815 (GRCm39) missense possibly damaging 0.46
R9157:Rgs9 UTSW 11 109,116,549 (GRCm39) missense probably damaging 0.96
Z1177:Rgs9 UTSW 11 109,130,418 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07