Incidental Mutation 'R6744:Rgs17'
ID 532793
Institutional Source Beutler Lab
Gene Symbol Rgs17
Ensembl Gene ENSMUSG00000019775
Gene Name regulator of G-protein signaling 17
Synonyms 6430507P11Rik, RGSZ2
MMRRC Submission 044861-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R6744 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 5775663-5872400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5792567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 60 (K60E)
Ref Sequence ENSEMBL: ENSMUSP00000116291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019909] [ENSMUST00000064225] [ENSMUST00000117676] [ENSMUST00000131996]
AlphaFold Q9QZB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000019909
AA Change: K60E

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000019909
Gene: ENSMUSG00000019775
AA Change: K60E

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 163 7.96e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000064225
AA Change: K80E

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000065825
Gene: ENSMUSG00000019775
AA Change: K80E

DomainStartEndE-ValueType
low complexity region 48 60 N/A INTRINSIC
RGS 104 220 4.54e-49 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117676
AA Change: K60E

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113519
Gene: ENSMUSG00000019775
AA Change: K60E

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000131996
AA Change: K60E

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116291
Gene: ENSMUSG00000019775
AA Change: K60E

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Meta Mutation Damage Score 0.1130 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (47/48)
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 regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T A 10: 20,841,466 (GRCm39) L251H probably damaging Het
Alk A T 17: 72,910,077 (GRCm39) S210T probably benign Het
Arap2 A G 5: 62,906,281 (GRCm39) F246S probably damaging Het
Atad5 T A 11: 80,024,858 (GRCm39) N1749K probably benign Het
C87436 T A 6: 86,423,046 (GRCm39) S207T probably damaging Het
C8b C T 4: 104,631,543 (GRCm39) R53W probably damaging Het
Catsperg2 A G 7: 29,409,244 (GRCm39) V619A probably benign Het
Cdc73 G A 1: 143,577,887 (GRCm39) probably benign Het
Cdh4 C A 2: 179,489,180 (GRCm39) H297Q possibly damaging Het
Col3a1 G T 1: 45,377,782 (GRCm39) probably benign Het
Crybg2 A G 4: 133,816,207 (GRCm39) N1328S probably damaging Het
Ctnnb1 T A 9: 120,782,025 (GRCm39) V346E probably damaging Het
Ctns C T 11: 73,076,111 (GRCm39) G308E probably damaging Het
Cxxc4 AGGCGGCGGCGGCGGCGGCGGCGGC AGGCGGCGGCGGCGGCGGCGGCGGCGGC 3: 133,945,891 (GRCm39) probably benign Het
Dnah6 A G 6: 73,014,532 (GRCm39) I3685T probably damaging Het
Dock6 T C 9: 21,742,770 (GRCm39) H775R probably damaging Het
Eef1ece2 A T 16: 20,449,116 (GRCm39) K165N probably damaging Het
Fbxl3 A T 14: 103,320,730 (GRCm39) V239D probably damaging Het
Gh T A 11: 106,192,230 (GRCm39) K55* probably null Het
Havcr2 T G 11: 46,345,887 (GRCm39) probably null Het
Kcnq2 T A 2: 180,727,099 (GRCm39) H576L possibly damaging Het
Kifap3 A G 1: 163,676,239 (GRCm39) N398S probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Mblac1 A G 5: 138,192,682 (GRCm39) E8G possibly damaging Het
Mtor C T 4: 148,543,112 (GRCm39) T290I probably benign Het
Nceh1 T C 3: 27,295,938 (GRCm39) Y400H probably damaging Het
Nek9 A G 12: 85,376,703 (GRCm39) V226A probably benign Het
Or10a3 T C 7: 108,480,037 (GRCm39) T259A probably damaging Het
Or10al3 T A 17: 38,012,336 (GRCm39) Y258* probably null Het
Or2d4 A G 7: 106,543,741 (GRCm39) S156P probably damaging Het
Otud4 C A 8: 80,400,407 (GRCm39) Y1039* probably null Het
Pax4 T C 6: 28,442,396 (GRCm39) H331R probably benign Het
Piezo2 A T 18: 63,165,960 (GRCm39) Y2090* probably null Het
Ppp1r12a T A 10: 108,066,395 (GRCm39) H195Q probably damaging Het
Ppp6r2 A G 15: 89,140,864 (GRCm39) probably null Het
Prodh A G 16: 17,897,064 (GRCm39) V23A probably benign Het
Psg20 G A 7: 18,408,505 (GRCm39) T405I probably damaging Het
Ptprf T C 4: 118,093,562 (GRCm39) D360G probably benign Het
Qrfprl T A 6: 65,418,324 (GRCm39) M164K possibly damaging Het
Rad18 A T 6: 112,652,745 (GRCm39) M284K probably damaging Het
Sec31a G T 5: 100,540,358 (GRCm39) Q39K possibly damaging Het
Slc22a22 G T 15: 57,117,668 (GRCm39) T291K possibly damaging Het
Sult2a6 C T 7: 13,956,470 (GRCm39) E264K probably damaging Het
Syne2 C T 12: 76,121,221 (GRCm39) R5896C probably damaging Het
Tctn1 A T 5: 122,402,209 (GRCm39) V75D probably damaging Het
Tmem214 A G 5: 31,031,372 (GRCm39) K409E probably damaging Het
Vcan T C 13: 89,853,301 (GRCm39) Y553C probably damaging Het
Vmn1r49 C T 6: 90,049,184 (GRCm39) V273I probably benign Het
Other mutations in Rgs17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Rgs17 APN 10 5,862,624 (GRCm38) missense possibly damaging 0.80
R0099:Rgs17 UTSW 10 5,792,583 (GRCm39) missense probably benign 0.18
R1564:Rgs17 UTSW 10 5,792,567 (GRCm39) nonsense probably null
R2424:Rgs17 UTSW 10 5,792,560 (GRCm39) missense probably benign 0.33
R2424:Rgs17 UTSW 10 5,783,111 (GRCm39) missense probably damaging 1.00
R4519:Rgs17 UTSW 10 5,868,192 (GRCm39) missense probably benign 0.00
R4585:Rgs17 UTSW 10 5,792,596 (GRCm39) missense probably benign 0.00
R5738:Rgs17 UTSW 10 5,783,140 (GRCm39) missense probably damaging 1.00
R7625:Rgs17 UTSW 10 5,791,488 (GRCm39) missense probably benign
R7816:Rgs17 UTSW 10 5,791,501 (GRCm39) missense probably benign
R7937:Rgs17 UTSW 10 5,783,078 (GRCm39) missense probably benign 0.02
R8302:Rgs17 UTSW 10 5,812,525 (GRCm39) missense possibly damaging 0.79
R8699:Rgs17 UTSW 10 5,868,194 (GRCm39) missense probably benign 0.26
R9509:Rgs17 UTSW 10 5,812,576 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAACTTAGGCAATGTACCAGC -3'
(R):5'- TGTCTTTTGAATAATCCCACGTGG -3'

Sequencing Primer
(F):5'- TGTACCAGCTTGGAAACCTAG -3'
(R):5'- GTGGTCAACAATGAAATCTCCCGAG -3'
Posted On 2018-08-29