Incidental Mutation 'R6267:Rgs9'
ID 507097
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 044405-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 109116181-109188955 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109159813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 173 (N173S)
Ref Sequence ENSEMBL: ENSMUSP00000102315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020920] [ENSMUST00000106704] [ENSMUST00000106706]
AlphaFold O54828
Predicted Effect probably benign
Transcript: ENSMUST00000020920
AA Change: N173S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020920
Gene: ENSMUSG00000020599
AA Change: N173S

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: N173S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102315
Gene: ENSMUSG00000020599
AA Change: N173S

DomainStartEndE-ValueType
DEP 30 105 2.2e-16 SMART
Blast:G_gamma 154 229 4e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106706
AA Change: N173S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000102317
Gene: ENSMUSG00000020599
AA Change: N173S

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,086,580 (GRCm39) K277R probably damaging Het
Aatf T C 11: 84,363,926 (GRCm39) Y267C probably benign Het
Abi3bp A G 16: 56,414,860 (GRCm39) T341A probably damaging Het
Acer2 T C 4: 86,792,823 (GRCm39) F33S probably damaging Het
Actr1b A G 1: 36,740,244 (GRCm39) V299A possibly damaging Het
Ampd3 T A 7: 110,390,387 (GRCm39) probably null Het
Atm A C 9: 53,355,300 (GRCm39) I2898R probably damaging Het
Bpifb6 G C 2: 153,748,812 (GRCm39) K269N possibly damaging Het
Cacna1c T C 6: 118,575,684 (GRCm39) E1927G possibly damaging Het
Cacna1c T A 6: 118,629,675 (GRCm39) T1249S probably benign Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Cbll1 A G 12: 31,537,507 (GRCm39) V415A probably benign Het
Cd300lf C T 11: 115,015,195 (GRCm39) V132I probably benign Het
Chd2 T C 7: 73,113,419 (GRCm39) E1187G probably damaging Het
Cntrl T C 2: 35,019,805 (GRCm39) L544P probably damaging Het
Cryga A C 1: 65,142,169 (GRCm39) S75A probably benign Het
Dcbld1 T A 10: 52,195,576 (GRCm39) Y261* probably null Het
Ddx11 G A 17: 66,457,724 (GRCm39) probably null Het
Dgke C T 11: 88,931,575 (GRCm39) V560I probably benign Het
Dst A C 1: 34,267,753 (GRCm39) D5065A probably damaging Het
Dusp16 C A 6: 134,697,456 (GRCm39) probably null Het
Eif4enif1 T A 11: 3,177,793 (GRCm39) V395E probably damaging Het
Enox1 A G 14: 77,815,204 (GRCm39) T121A probably damaging Het
Enpp4 G T 17: 44,413,371 (GRCm39) N54K probably benign Het
Erc2 A T 14: 27,802,112 (GRCm39) K764M probably damaging Het
Ercc6 G T 14: 32,248,360 (GRCm39) E304* probably null Het
Fam117a T A 11: 95,254,971 (GRCm39) C115S possibly damaging Het
Fcrl5 G A 3: 87,355,631 (GRCm39) G448E probably damaging Het
Galntl5 T C 5: 25,391,163 (GRCm39) S21P probably benign Het
Garnl3 T C 2: 32,994,892 (GRCm39) D39G probably benign Het
Gm14295 C T 2: 176,500,782 (GRCm39) Q91* probably null Het
Grb10 T A 11: 11,920,639 (GRCm39) probably benign Het
Grip1 C T 10: 119,911,369 (GRCm39) Q696* probably null Het
Herc2 T A 7: 55,802,914 (GRCm39) C2112* probably null Het
Herc2 T G 7: 55,854,466 (GRCm39) L3797R possibly damaging Het
Ighm T C 12: 113,385,187 (GRCm39) I258V unknown Het
Jarid2 T A 13: 45,056,539 (GRCm39) Y443N possibly damaging Het
Kif13b A G 14: 64,976,083 (GRCm39) Y466C probably damaging Het
Krtap4-6 T A 11: 99,556,245 (GRCm39) R161* probably null Het
Lingo4 G A 3: 94,310,697 (GRCm39) G545E probably benign Het
Lmo2 T G 2: 103,800,946 (GRCm39) V39G possibly damaging Het
Loricrin C A 3: 91,989,119 (GRCm39) G56* probably null Het
Lrfn1 A G 7: 28,159,169 (GRCm39) R363G probably benign Het
Lrp1b T C 2: 40,547,537 (GRCm39) D446G probably benign Het
Ltbp1 G T 17: 75,312,984 (GRCm39) G35V possibly damaging Het
Magel2 G A 7: 62,028,427 (GRCm39) V444M probably damaging Het
Mkx A T 18: 7,000,591 (GRCm39) probably null Het
Ms4a7 A T 19: 11,310,659 (GRCm39) I20N possibly damaging Het
Myo5b A G 18: 74,750,062 (GRCm39) Y173C probably damaging Het
Nek1 C T 8: 61,525,343 (GRCm39) Q594* probably null Het
Nipbl T C 15: 8,330,379 (GRCm39) M2349V possibly damaging Het
Nmnat2 A T 1: 152,952,717 (GRCm39) H102L probably damaging Het
Nup155 T A 15: 8,182,639 (GRCm39) C1201S probably damaging Het
Or2y8 C A 11: 52,035,423 (GRCm39) R311S probably benign Het
Or4a76 G A 2: 89,460,975 (GRCm39) T89I probably damaging Het
Or52x1 G A 7: 104,852,599 (GRCm39) T317I probably damaging Het
Osbpl1a A G 18: 12,952,560 (GRCm39) probably null Het
Pcnt A G 10: 76,221,632 (GRCm39) V1998A probably benign Het
Pitpnc1 T C 11: 107,117,092 (GRCm39) H193R probably damaging Het
Pitpnm1 T C 19: 4,160,522 (GRCm39) L781P probably damaging Het
Prdm14 A T 1: 13,189,160 (GRCm39) C395S probably damaging Het
Prmt8 A G 6: 127,688,767 (GRCm39) I201T probably damaging Het
Pter T C 2: 12,983,352 (GRCm39) V119A probably damaging Het
Rab11fip4 T C 11: 79,581,655 (GRCm39) probably null Het
Rorb C A 19: 18,955,221 (GRCm39) V47L possibly damaging Het
Rtn4r A G 16: 17,969,046 (GRCm39) Y158C probably damaging Het
Sdr16c5 C T 4: 4,016,162 (GRCm39) G88E probably damaging Het
Sfxn1 C T 13: 54,247,899 (GRCm39) T208I probably benign Het
Sgo2b C T 8: 64,380,827 (GRCm39) M668I probably benign Het
Slc52a3 G T 2: 151,849,529 (GRCm39) probably null Het
Smco1 A T 16: 32,092,832 (GRCm39) M168L probably benign Het
Spata31d1d G A 13: 59,876,278 (GRCm39) T419I possibly damaging Het
Spata31d1e T C 13: 59,890,497 (GRCm39) D441G probably benign Het
Spink5 T C 18: 44,147,824 (GRCm39) S857P probably damaging Het
Stk35 T A 2: 129,652,808 (GRCm39) Y436* probably null Het
Tmem225 T A 9: 40,059,731 (GRCm39) I37N probably damaging Het
Unkl T C 17: 25,450,839 (GRCm39) *232R probably null Het
Usp16 A G 16: 87,280,079 (GRCm39) N813S probably benign Het
Vmn1r128 A T 7: 21,084,221 (GRCm39) *308C probably null Het
Vmn2r45 A G 7: 8,475,207 (GRCm39) V607A probably benign Het
Vmn2r63 A T 7: 42,578,059 (GRCm39) probably null Het
Wnk4 A T 11: 101,164,824 (GRCm39) N718Y probably damaging Het
Zfp503 G C 14: 22,035,868 (GRCm39) Y349* probably null Het
Zfp990 T A 4: 145,264,673 (GRCm39) F557Y 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
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
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'- CAGACAAGCTGTAAGGACCC -3'
(R):5'- TGCATGTTGGAACGGTACCC -3'

Sequencing Primer
(F):5'- ACCAGATAATCCAGTTCAACTCTTG -3'
(R):5'- CGGAGCAAAAGAGTGATGTGCTATTG -3'
Posted On 2018-03-15