Incidental Mutation 'R4179:Rgs9'
ID 319645
Institutional Source Beutler Lab
Gene Symbol Rgs9
Ensembl Gene ENSMUSG00000020599
Gene Name regulator of G-protein signaling 9
Synonyms RGS9-1, Rgs9-2
MMRRC Submission 041015-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4179 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 109116181-109188955 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 109172274 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 null
Transcript: ENSMUST00000106704
SMART Domains Protein: ENSMUSP00000102315
Gene: ENSMUSG00000020599

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,128 (GRCm39) M506V probably benign Het
Ano1 A T 7: 144,204,242 (GRCm39) M290K probably damaging Het
Arrdc2 A T 8: 71,289,821 (GRCm39) L34Q probably damaging Het
Cdadc1 G T 14: 59,829,935 (GRCm39) T77N probably benign Het
Cmtr2 C G 8: 110,947,669 (GRCm39) probably null Het
Cnot2 A T 10: 116,334,048 (GRCm39) V374E possibly damaging Het
Crnn T C 3: 93,054,120 (GRCm39) M1T probably null Het
Ctsb A G 14: 63,370,901 (GRCm39) N38D probably benign Het
Dock10 A C 1: 80,488,134 (GRCm39) S2010A probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Eci1 T C 17: 24,655,251 (GRCm39) W119R probably damaging Het
Foxo1 C A 3: 52,252,840 (GRCm39) D334E probably benign Het
Gck T C 11: 5,860,295 (GRCm39) T116A probably benign Het
Gcn1 T C 5: 115,726,109 (GRCm39) V588A probably benign Het
Gm7168 A G 17: 14,169,265 (GRCm39) I211V probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Jag1 A G 2: 136,943,578 (GRCm39) F206S probably damaging Het
Loxl3 G A 6: 83,014,565 (GRCm39) V158I probably benign Het
Ly6g A G 15: 75,027,567 (GRCm39) probably null Het
Myo1b A G 1: 51,817,685 (GRCm39) F532L probably damaging Het
Naip1 T A 13: 100,562,684 (GRCm39) N827I probably damaging Het
Nlrp9c G A 7: 26,084,086 (GRCm39) H498Y possibly damaging Het
Or10d1b A G 9: 39,613,387 (GRCm39) I226T probably benign Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pcdha2 T A 18: 37,074,529 (GRCm39) L720Q probably damaging Het
Pcdhb9 T A 18: 37,534,168 (GRCm39) M54K probably benign Het
Pde2a A G 7: 101,130,590 (GRCm39) *71W probably null Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Pkhd1l1 A C 15: 44,387,045 (GRCm39) Y1306S probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkd1 C A 12: 50,413,231 (GRCm39) G647C probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Qser1 A G 2: 104,606,729 (GRCm39) I1510T probably benign Het
Ranbp3l T C 15: 9,057,279 (GRCm39) I314T possibly damaging Het
Riok1 T C 13: 38,232,931 (GRCm39) F216L probably damaging Het
Rrm1 T A 7: 102,106,405 (GRCm39) I308N probably damaging Het
Serpina1f A T 12: 103,658,179 (GRCm39) M242K probably benign Het
Smox G A 2: 131,366,770 (GRCm39) M576I possibly damaging Het
Spaca7 A T 8: 12,636,435 (GRCm39) N87I probably damaging Het
Spink5 A T 18: 44,120,934 (GRCm39) Q296L probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Sult2b1 T A 7: 45,384,735 (GRCm39) I114F probably damaging Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsen54 T C 11: 115,711,678 (GRCm39) V365A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T C 7: 111,687,091 (GRCm39) L683P probably damaging Het
Wdr18 T C 10: 79,800,875 (GRCm39) L146P probably damaging Het
Zfp709 A G 8: 72,643,750 (GRCm39) Y392C probably damaging Het
Zranb3 A T 1: 127,888,601 (GRCm39) I828N possibly damaging Het
Other mutations in Rgs9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Rgs9 APN 11 109,139,875 (GRCm39) splice site probably benign
IGL01949:Rgs9 APN 11 109,150,660 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TACAAACACAGGCAGGCTGTG -3'
(R):5'- TGTCTATTTGGCTCCGGCAC -3'

Sequencing Primer
(F):5'- TGTCATAGTCCACTGAGTGAAGCC -3'
(R):5'- AAGCCTCTGGGTCCGCTTTG -3'
Posted On 2015-06-10