Incidental Mutation 'R9398:Rgs6'
ID 710959
Institutional Source Beutler Lab
Gene Symbol Rgs6
Ensembl Gene ENSMUSG00000021219
Gene Name regulator of G-protein signaling 6
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R9398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 82663325-83208835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82698615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 5 (S5A)
Ref Sequence ENSEMBL: ENSMUSP00000125256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101234] [ENSMUST00000161801] [ENSMUST00000185665] [ENSMUST00000185674] [ENSMUST00000186081] [ENSMUST00000186309] [ENSMUST00000186323] [ENSMUST00000186458] [ENSMUST00000186848] [ENSMUST00000191107] [ENSMUST00000191311] [ENSMUST00000191352] [ENSMUST00000200861] [ENSMUST00000200911] [ENSMUST00000201271] [ENSMUST00000201602] [ENSMUST00000201861] [ENSMUST00000202210]
AlphaFold Q9Z2H2
Predicted Effect probably benign
Transcript: ENSMUST00000101234
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
RGS 336 451 2.05e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161801
AA Change: S5A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185665
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185674
AA Change: S5A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
RGS 299 414 7.5e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186081
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
RGS 299 414 7.5e-50 SMART
low complexity region 417 425 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186309
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
low complexity region 494 499 N/A INTRINSIC
low complexity region 511 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186323
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
RGS 299 414 7.5e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186458
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
RGS 336 451 2.05e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186848
SMART Domains Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219

DomainStartEndE-ValueType
DEP 5 80 1.6e-26 SMART
G_gamma 220 284 1.1e-27 SMART
GGL 223 284 8.8e-30 SMART
RGS 301 416 7.6e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191107
AA Change: S5A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191311
AA Change: S5A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191352
AA Change: S5A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.5e-26 SMART
G_gamma 255 319 1e-27 SMART
GGL 258 319 8.7e-30 SMART
RGS 336 451 7.5e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200861
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144118
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 109 3.2e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200911
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
RGS 336 451 2.05e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201271
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 1.6e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201602
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144044
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
Pfam:DEP 43 73 1.1e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201861
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144395
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
Pfam:DEP 43 88 5.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202210
AA Change: S5A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: S5A

DomainStartEndE-ValueType
DEP 40 115 3.28e-24 SMART
G_gamma 255 319 2.23e-23 SMART
GGL 258 319 1.38e-27 SMART
RGS 336 451 2.05e-47 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP (Dishevelled, Egl-10, and Pleckstrin) and GGL (G-protein gamma like)domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Mice lacking this gene exhibit decreased heart rate. Alternative splicing results in multiple transcript variants, however, the full-length nature of some of these variants is not known. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased heart rate and abnormal impulse conducting system conduction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A T 15: 101,034,924 (GRCm39) K228* probably null Het
Adrb2 T C 18: 62,312,276 (GRCm39) D183G probably benign Het
Ap1m2 A G 9: 21,216,935 (GRCm39) Y134H probably damaging Het
Arid5a A G 1: 36,358,073 (GRCm39) T217A probably benign Het
Cdnf C T 2: 3,522,075 (GRCm39) T89I possibly damaging Het
Cntnap3 G A 13: 65,051,648 (GRCm39) R3W probably benign Het
Col6a6 A G 9: 105,651,825 (GRCm39) I1062T probably benign Het
Ctss T C 3: 95,454,258 (GRCm39) F270S possibly damaging Het
Ddhd1 C T 14: 45,895,117 (GRCm39) G118R possibly damaging Het
Ddx11 A G 17: 66,436,912 (GRCm39) K69E probably benign Het
Dgkb G A 12: 38,189,657 (GRCm39) G328D probably damaging Het
Dock1 C T 7: 134,774,228 (GRCm39) T1852M probably damaging Het
Gm19410 T C 8: 36,272,356 (GRCm39) Y1346H probably benign Het
Gprin1 G T 13: 54,887,383 (GRCm39) T297N probably damaging Het
Gramd1c A G 16: 43,833,381 (GRCm39) F187S probably damaging Het
Gse1 A G 8: 121,303,074 (GRCm39) N1072D unknown Het
Gtf3c6 G A 10: 40,133,520 (GRCm39) probably benign Het
Hipk3 T A 2: 104,263,562 (GRCm39) T897S probably benign Het
Igsf21 T A 4: 139,973,762 (GRCm39) probably benign Het
Itgb1 A G 8: 129,452,605 (GRCm39) I757V probably damaging Het
Lamb2 C T 9: 108,364,366 (GRCm39) R1102W possibly damaging Het
Lzts2 T G 19: 45,013,208 (GRCm39) C374W unknown Het
Mapk10 A T 5: 103,061,152 (GRCm39) S462T probably damaging Het
Mtcl1 A T 17: 66,755,462 (GRCm39) D293E possibly damaging Het
Nf1 T G 11: 79,438,018 (GRCm39) H109Q probably damaging Het
Nlrp9b T C 7: 19,783,435 (GRCm39) L926P probably damaging Het
Notch2 G A 3: 98,009,668 (GRCm39) D532N probably damaging Het
Olfm4 A T 14: 80,249,249 (GRCm39) Y122F probably benign Het
Or52e19b T A 7: 103,032,487 (GRCm39) T241S probably damaging Het
Or52r1 A G 7: 102,537,000 (GRCm39) M120T probably damaging Het
Or56a4 A T 7: 104,806,006 (GRCm39) Y294* probably null Het
Or5g24-ps1 T C 2: 85,464,367 (GRCm39) V198A probably benign Het
Or5p76 T C 7: 108,123,035 (GRCm39) T41A probably damaging Het
Or5t18 A G 2: 86,637,160 (GRCm39) L61P possibly damaging Het
P2rx2 A T 5: 110,488,138 (GRCm39) M472K probably benign Het
Pbxip1 A G 3: 89,354,941 (GRCm39) K487E probably benign Het
Plxnb2 A G 15: 89,045,122 (GRCm39) V1108A probably benign Het
Polq A G 16: 36,881,394 (GRCm39) N1186S probably benign Het
Por T A 5: 135,754,597 (GRCm39) W6R unknown Het
Prex2 G A 1: 11,207,028 (GRCm39) V529I probably benign Het
Rp9 G T 9: 22,360,082 (GRCm39) S171* probably null Het
Sec11c T A 18: 65,942,568 (GRCm39) I47N possibly damaging Het
Sh2b1 GCCACGGGGACCAGCTC GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC 7: 126,066,756 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GACCAGCTCAGCCACGGG GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG 7: 126,066,746 (GRCm39) probably benign Het
Slco1a8 A G 6: 141,940,511 (GRCm39) S137P possibly damaging Het
Sorcs1 A G 19: 50,213,651 (GRCm39) M692T possibly damaging Het
Sult1d1 T A 5: 87,713,954 (GRCm39) Q30L probably benign Het
Tcea2 A G 2: 181,322,243 (GRCm39) D15G probably damaging Het
Tep1 T C 14: 51,066,429 (GRCm39) S2344G possibly damaging Het
Ttc6 T A 12: 57,784,404 (GRCm39) Y1824* probably null Het
Ubqln5 T C 7: 103,777,985 (GRCm39) T280A probably benign Het
Ush1c T C 7: 45,869,934 (GRCm39) R342G probably benign Het
Vmn1r185 T A 7: 26,311,056 (GRCm39) I150F probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn1r86 A G 7: 12,836,261 (GRCm39) M205T probably damaging Het
Vps13d A T 4: 144,896,956 (GRCm39) Y321* probably null Het
Other mutations in Rgs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Rgs6 APN 12 83,098,097 (GRCm39) missense probably benign 0.01
IGL02131:Rgs6 APN 12 83,116,269 (GRCm39) missense probably damaging 1.00
IGL02354:Rgs6 APN 12 82,665,393 (GRCm39) intron probably benign
IGL02361:Rgs6 APN 12 82,665,393 (GRCm39) intron probably benign
IGL02568:Rgs6 APN 12 83,117,376 (GRCm39) missense probably benign 0.25
IGL02598:Rgs6 APN 12 83,138,571 (GRCm39) missense probably benign 0.02
IGL03146:Rgs6 APN 12 83,099,312 (GRCm39) missense probably damaging 1.00
IGL03248:Rgs6 APN 12 83,099,324 (GRCm39) splice site probably benign
IGL03098:Rgs6 UTSW 12 83,032,150 (GRCm39) missense probably damaging 1.00
IGL03147:Rgs6 UTSW 12 83,138,620 (GRCm39) missense probably damaging 0.99
PIT4453001:Rgs6 UTSW 12 83,138,553 (GRCm39) missense probably damaging 1.00
R0270:Rgs6 UTSW 12 83,180,463 (GRCm39) missense probably damaging 1.00
R0390:Rgs6 UTSW 12 83,180,451 (GRCm39) missense probably damaging 1.00
R0540:Rgs6 UTSW 12 83,106,578 (GRCm39) nonsense probably null
R0630:Rgs6 UTSW 12 83,094,324 (GRCm39) splice site probably benign
R1479:Rgs6 UTSW 12 83,163,018 (GRCm39) missense probably damaging 1.00
R1533:Rgs6 UTSW 12 83,138,547 (GRCm39) missense probably benign 0.00
R1545:Rgs6 UTSW 12 83,162,951 (GRCm39) missense probably damaging 0.99
R2161:Rgs6 UTSW 12 83,138,578 (GRCm39) missense probably damaging 1.00
R2421:Rgs6 UTSW 12 83,163,057 (GRCm39) missense possibly damaging 0.93
R4089:Rgs6 UTSW 12 83,110,261 (GRCm39) missense probably damaging 1.00
R4573:Rgs6 UTSW 12 83,112,789 (GRCm39) missense probably damaging 1.00
R4821:Rgs6 UTSW 12 83,114,185 (GRCm39) critical splice acceptor site probably null
R6228:Rgs6 UTSW 12 83,112,738 (GRCm39) missense probably damaging 0.99
R7023:Rgs6 UTSW 12 83,138,878 (GRCm39) intron probably benign
R7585:Rgs6 UTSW 12 83,153,644 (GRCm39) missense probably damaging 1.00
R7610:Rgs6 UTSW 12 83,138,553 (GRCm39) missense probably damaging 1.00
R7798:Rgs6 UTSW 12 83,116,293 (GRCm39) missense probably benign 0.02
R8003:Rgs6 UTSW 12 83,032,144 (GRCm39) missense probably damaging 0.99
R8011:Rgs6 UTSW 12 83,163,066 (GRCm39) missense probably null 0.32
R8081:Rgs6 UTSW 12 83,094,347 (GRCm39) nonsense probably null
R8248:Rgs6 UTSW 12 83,184,478 (GRCm39) intron probably benign
R8267:Rgs6 UTSW 12 82,698,669 (GRCm39) missense probably benign
R8285:Rgs6 UTSW 12 83,162,949 (GRCm39) missense probably benign 0.14
R8932:Rgs6 UTSW 12 83,112,733 (GRCm39) missense probably damaging 1.00
R9415:Rgs6 UTSW 12 83,184,166 (GRCm39) missense probably benign 0.06
RF008:Rgs6 UTSW 12 83,110,223 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCAAAACTCAGCTTCAAAATG -3'
(R):5'- TGAAGCACCTCACACAGATG -3'

Sequencing Primer
(F):5'- TGTTGCCAGGAGATTAAGATTAGC -3'
(R):5'- ACACAGATGGCATCTATCTCTTG -3'
Posted On 2022-04-18