Incidental Mutation 'R5738:Rgs17'
ID 501361
Institutional Source Beutler Lab
Gene Symbol Rgs17
Ensembl Gene ENSMUSG00000019775
Gene Name regulator of G-protein signaling 17
Synonyms 6430507P11Rik, RGSZ2
MMRRC Submission 043350-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R5738 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 5775663-5872400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 5783140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 149 (V149G)
Ref Sequence ENSEMBL: ENSMUSP00000116291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019909] [ENSMUST00000064225] [ENSMUST00000117676] [ENSMUST00000131996]
AlphaFold Q9QZB0
Predicted Effect probably damaging
Transcript: ENSMUST00000019909
AA Change: V149G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019909
Gene: ENSMUSG00000019775
AA Change: V149G

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 163 7.96e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000064225
AA Change: V169G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065825
Gene: ENSMUSG00000019775
AA Change: V169G

DomainStartEndE-ValueType
low complexity region 48 60 N/A INTRINSIC
RGS 104 220 4.54e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117676
AA Change: V149G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113519
Gene: ENSMUSG00000019775
AA Change: V149G

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131996
AA Change: V149G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116291
Gene: ENSMUSG00000019775
AA Change: V149G

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,571,917 (GRCm39) D4826V probably damaging Het
Acoxl G A 2: 127,719,686 (GRCm39) C149Y probably benign Het
Adamts3 G T 5: 89,856,527 (GRCm39) H349N probably damaging Het
Ap2b1 A G 11: 83,227,256 (GRCm39) probably null Het
Ap3m2 T C 8: 23,293,877 (GRCm39) S58G possibly damaging Het
Bhmt2 A T 13: 93,799,798 (GRCm39) W213R probably benign Het
Cacna1h T G 17: 25,606,023 (GRCm39) D1092A probably damaging Het
Cbfb A C 8: 105,929,193 (GRCm39) Q170P probably damaging Het
Ccdc73 A C 2: 104,761,331 (GRCm39) K110N possibly damaging Het
Cep350 C A 1: 155,741,824 (GRCm39) R2149L probably damaging Het
Cog2 A G 8: 125,272,777 (GRCm39) T525A probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fbxl5 A G 5: 43,920,170 (GRCm39) I251T probably benign Het
Fscn3 A G 6: 28,430,030 (GRCm39) K67E possibly damaging Het
Glmp T A 3: 88,233,445 (GRCm39) N133K probably benign Het
Gpr179 T C 11: 97,242,232 (GRCm39) N204S probably damaging Het
Gtf2ird1 C T 5: 134,412,672 (GRCm39) R613Q probably damaging Het
Hepacam A G 9: 37,294,721 (GRCm39) D285G possibly damaging Het
Hipk4 G A 7: 27,227,841 (GRCm39) V196M probably damaging Het
Hlx A T 1: 184,463,754 (GRCm39) probably null Het
Igf2r A T 17: 12,936,254 (GRCm39) D597E probably benign Het
Ighm T C 12: 113,385,115 (GRCm39) T282A unknown Het
Igsf9b T C 9: 27,239,826 (GRCm39) C624R probably damaging Het
Ksr2 T C 5: 117,886,864 (GRCm39) V800A probably damaging Het
Lyn A T 4: 3,782,987 (GRCm39) I386F probably damaging Het
Melk A G 4: 44,310,333 (GRCm39) D102G probably damaging Het
Mettl1 G T 10: 126,877,863 (GRCm39) E4* probably null Het
Mybl2 C T 2: 162,910,203 (GRCm39) Q210* probably null Het
Naga C T 15: 82,219,054 (GRCm39) W231* probably null Het
Or2y3 T C 17: 38,393,347 (GRCm39) Y174C probably damaging Het
Or4k2 C T 14: 50,424,105 (GRCm39) V190I probably benign Het
Or7g16 T C 9: 18,727,125 (GRCm39) N155S possibly damaging Het
Otud4 T C 8: 80,400,090 (GRCm39) S935P probably benign Het
P2rx7 C T 5: 122,790,852 (GRCm39) T63I probably damaging Het
Pga5 A T 19: 10,647,024 (GRCm39) N260K probably benign Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Plch1 T A 3: 63,681,076 (GRCm39) R184W probably damaging Het
Ppm1b T C 17: 85,301,374 (GRCm39) F85L probably benign Het
Prtg T A 9: 72,819,288 (GRCm39) F1094I probably benign Het
Ralgds G A 2: 28,432,538 (GRCm39) probably benign Het
Rnf168 A G 16: 32,101,192 (GRCm39) E124G probably damaging Het
Sav1 T C 12: 70,022,817 (GRCm39) E245G possibly damaging Het
Slc25a19 T C 11: 115,515,060 (GRCm39) I33V probably benign Het
Sptbn1 T C 11: 30,095,941 (GRCm39) I318V probably damaging Het
Tas2r136 A G 6: 132,754,707 (GRCm39) L140P probably damaging Het
Tbc1d9 A G 8: 83,997,655 (GRCm39) I1071V probably benign Het
Tecta G T 9: 42,284,474 (GRCm39) N870K possibly damaging Het
Tmem230 G A 2: 132,086,048 (GRCm39) P38L possibly damaging Het
Trpa1 G T 1: 14,946,174 (GRCm39) H986N probably damaging Het
Wdr41 A T 13: 95,114,996 (GRCm39) I24L possibly damaging 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
R6744:Rgs17 UTSW 10 5,792,567 (GRCm39) missense possibly damaging 0.55
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'- GGCCTGTCAACTGAAAATTAGG -3'
(R):5'- TTCAGCATTAGACGGGGAAG -3'

Sequencing Primer
(F):5'- TTCAGAAGTACAGCTGGTGGTAC -3'
(R):5'- GGGGGAATCAGTAAGCATGATTTAGC -3'
Posted On 2017-12-01