Incidental Mutation 'R0148:Rgs11'
ID 60887
Institutional Source Beutler Lab
Gene Symbol Rgs11
Ensembl Gene ENSMUSG00000024186
Gene Name regulator of G-protein signaling 11
Synonyms
MMRRC Submission 038432-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R0148 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 26421925-26430298 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 26426433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025020] [ENSMUST00000114988] [ENSMUST00000122058]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025020
SMART Domains Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186

DomainStartEndE-ValueType
DEP 34 109 7.78e-17 SMART
G_gamma 220 284 1.38e-19 SMART
GGL 223 284 1.1e-26 SMART
RGS 303 418 6.23e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114988
SMART Domains Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 218 233 N/A INTRINSIC
low complexity region 415 425 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000122058
SMART Domains Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186

DomainStartEndE-ValueType
DEP 32 107 7.78e-17 SMART
G_gamma 218 282 1.38e-19 SMART
GGL 221 282 1.1e-26 SMART
RGS 301 416 6.23e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152299
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal cone and rod b-wave electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Fgf17 C T 14: 70,876,313 (GRCm39) R49Q probably damaging Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Gria2 A C 3: 80,615,038 (GRCm39) W481G probably damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H possibly damaging Het
Other mutations in Rgs11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Rgs11 APN 17 26,426,371 (GRCm39) missense probably damaging 1.00
IGL01617:Rgs11 APN 17 26,427,224 (GRCm39) missense probably damaging 1.00
IGL02150:Rgs11 APN 17 26,421,968 (GRCm39) missense probably benign 0.05
IGL02610:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02612:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02617:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02669:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02670:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02674:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02706:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02707:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
IGL02741:Rgs11 APN 17 26,426,605 (GRCm39) missense probably benign 0.31
R0147:Rgs11 UTSW 17 26,426,433 (GRCm39) critical splice donor site probably null
R0508:Rgs11 UTSW 17 26,426,443 (GRCm39) splice site probably benign
R0744:Rgs11 UTSW 17 26,422,292 (GRCm39) missense probably damaging 1.00
R1479:Rgs11 UTSW 17 26,427,257 (GRCm39) splice site probably null
R1599:Rgs11 UTSW 17 26,427,223 (GRCm39) missense probably damaging 1.00
R1779:Rgs11 UTSW 17 26,429,640 (GRCm39) missense probably damaging 1.00
R3692:Rgs11 UTSW 17 26,423,302 (GRCm39) unclassified probably benign
R3807:Rgs11 UTSW 17 26,422,474 (GRCm39) missense probably damaging 0.99
R3889:Rgs11 UTSW 17 26,426,561 (GRCm39) missense probably damaging 0.98
R4689:Rgs11 UTSW 17 26,423,521 (GRCm39) critical splice donor site probably null
R4832:Rgs11 UTSW 17 26,426,542 (GRCm39) missense probably benign 0.00
R5052:Rgs11 UTSW 17 26,426,947 (GRCm39) intron probably benign
R5330:Rgs11 UTSW 17 26,421,947 (GRCm39) start codon destroyed probably benign 0.01
R5331:Rgs11 UTSW 17 26,421,947 (GRCm39) start codon destroyed probably benign 0.01
R5683:Rgs11 UTSW 17 26,424,155 (GRCm39) missense probably benign 0.32
R5879:Rgs11 UTSW 17 26,422,437 (GRCm39) unclassified probably benign
R6156:Rgs11 UTSW 17 26,429,439 (GRCm39) nonsense probably null
R6671:Rgs11 UTSW 17 26,427,272 (GRCm39) missense probably damaging 1.00
R7432:Rgs11 UTSW 17 26,426,734 (GRCm39) missense probably damaging 0.99
R7609:Rgs11 UTSW 17 26,426,415 (GRCm39) missense probably damaging 1.00
R7795:Rgs11 UTSW 17 26,426,552 (GRCm39) missense possibly damaging 0.88
R7820:Rgs11 UTSW 17 26,424,169 (GRCm39) splice site probably null
R8025:Rgs11 UTSW 17 26,423,359 (GRCm39) critical splice donor site probably null
R8755:Rgs11 UTSW 17 26,422,346 (GRCm39) missense probably damaging 0.98
R8856:Rgs11 UTSW 17 26,423,484 (GRCm39) missense probably damaging 0.96
R8977:Rgs11 UTSW 17 26,427,233 (GRCm39) missense probably damaging 1.00
R9214:Rgs11 UTSW 17 26,427,260 (GRCm39) missense probably damaging 1.00
Z1088:Rgs11 UTSW 17 26,424,746 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCTGTGTAACCCAAGCCAACTG -3'
(R):5'- GGGCATTTAACAAAGGCACCCAAAG -3'

Sequencing Primer
(F):5'- AACTGTGTCTTTCAGACCTAGAGC -3'
(R):5'- ATTCATGGCCCAGTAGGTGAC -3'
Posted On 2013-07-24