Incidental Mutation 'R2424:Rgs17'
ID 249497
Institutional Source Beutler Lab
Gene Symbol Rgs17
Ensembl Gene ENSMUSG00000019775
Gene Name regulator of G-protein signaling 17
Synonyms 6430507P11Rik, RGSZ2
MMRRC Submission 040386-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R2424 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 5775663-5872400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5783111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 159 (I159F)
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: I159F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019909
Gene: ENSMUSG00000019775
AA Change: I159F

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: I179F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065825
Gene: ENSMUSG00000019775
AA Change: I179F

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: I159F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113519
Gene: ENSMUSG00000019775
AA Change: I159F

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: I159F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116291
Gene: ENSMUSG00000019775
AA Change: I159F

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Meta Mutation Damage Score 0.5274 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,590,159 (GRCm39) probably null Het
Acot3 G T 12: 84,100,638 (GRCm39) R138L probably damaging Het
Ago3 A G 4: 126,298,040 (GRCm39) V160A probably damaging Het
Akap9 A C 5: 4,115,279 (GRCm39) E166D probably damaging Het
Arid5a T C 1: 36,357,582 (GRCm39) Y136H probably damaging Het
Ascc3 T C 10: 50,494,297 (GRCm39) V244A probably benign Het
Atp10a A T 7: 58,444,303 (GRCm39) H560L probably benign Het
Btbd6 A G 12: 112,941,980 (GRCm39) T482A probably benign Het
Cacna1d A T 14: 29,770,980 (GRCm39) Y1828N probably damaging Het
Capzb A G 4: 138,921,441 (GRCm39) M1V probably null Het
Cdh9 T G 15: 16,850,440 (GRCm39) F524L probably damaging Het
Ctnna1 T C 18: 35,386,760 (GRCm39) S846P probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dock7 T A 4: 98,833,544 (GRCm39) R1886* probably null Het
Dpp3 A T 19: 4,957,735 (GRCm39) L711* probably null Het
Dst T A 1: 34,206,141 (GRCm39) I566N probably damaging Het
Eif2b3 T A 4: 116,928,045 (GRCm39) S421R probably benign Het
Epg5 T C 18: 78,011,828 (GRCm39) V825A probably benign Het
Eya1 T A 1: 14,341,072 (GRCm39) probably benign Het
Fam187a T C 11: 102,776,780 (GRCm39) Y195H probably damaging Het
Fbn2 C T 18: 58,336,859 (GRCm39) C132Y probably damaging Het
Fbxw21 A T 9: 108,986,587 (GRCm39) Y97* probably null Het
Grin1 A T 2: 25,208,664 (GRCm39) C79S probably null Het
Haao T A 17: 84,142,991 (GRCm39) Y118F probably damaging Het
Il11ra1 T A 4: 41,768,222 (GRCm39) S378T probably damaging Het
Kcnj5 A T 9: 32,234,116 (GRCm39) N66K probably damaging Het
Kif21a T A 15: 90,855,399 (GRCm39) N668I probably damaging Het
Kprp A T 3: 92,732,912 (GRCm39) L46Q probably damaging Het
Lama1 C T 17: 68,105,660 (GRCm39) T2056I probably benign Het
Madd G C 2: 90,996,967 (GRCm39) D824E probably damaging Het
Mapk9 A G 11: 49,754,499 (GRCm39) N84S probably damaging Het
Mrpl39 A G 16: 84,527,748 (GRCm39) V160A probably benign Het
Mrpl9 T C 3: 94,351,113 (GRCm39) S98P probably benign Het
Mybpc3 A T 2: 90,966,138 (GRCm39) M1233L probably benign Het
Neb A G 2: 52,099,671 (GRCm39) probably benign Het
Ngly1 A G 14: 16,290,721 (GRCm38) probably null Het
Nt5c1b A T 12: 10,420,072 (GRCm39) T4S probably damaging Het
Obscn T C 11: 58,885,277 (GRCm39) probably benign Het
Or2h2c T C 17: 37,422,408 (GRCm39) I155M probably benign Het
Or4k15b T C 14: 50,272,281 (GRCm39) Y193C probably damaging Het
Or8b1b T C 9: 38,376,128 (GRCm39) S264P probably damaging Het
Or8g53 A G 9: 39,683,593 (GRCm39) F168L probably benign Het
Otog A T 7: 45,947,593 (GRCm39) K64* probably null Het
Papola A G 12: 105,793,311 (GRCm39) T544A probably benign Het
Phc1 A G 6: 122,297,002 (GRCm39) V790A probably damaging Het
Phf3 G T 1: 30,845,430 (GRCm39) R1252S probably damaging Het
Phf8-ps T C 17: 33,284,730 (GRCm39) T691A probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rnase1 A G 14: 51,383,004 (GRCm39) Y117H possibly damaging Het
Rnf214 T C 9: 45,811,096 (GRCm39) D189G probably damaging Het
Sema4b A G 7: 79,869,023 (GRCm39) N365S probably damaging Het
Setd2 A G 9: 110,446,590 (GRCm39) H2480R probably benign Het
Slc27a6 G T 18: 58,738,189 (GRCm39) C415F probably benign Het
Stim1 A G 7: 102,057,612 (GRCm39) I142V probably benign Het
Supt5 T C 7: 28,014,590 (GRCm39) I1070V possibly damaging Het
Tbp T C 17: 15,733,795 (GRCm39) F174L possibly damaging Het
Tex26 A G 5: 149,393,913 (GRCm39) probably benign Het
Tmem132d A G 5: 127,941,663 (GRCm39) V479A probably benign Het
Ttn T C 2: 76,711,489 (GRCm39) probably benign Het
Urb2 T A 8: 124,757,165 (GRCm39) N957K probably benign Het
Usp24 T C 4: 106,256,310 (GRCm39) probably null Het
Vmn2r114 T C 17: 23,515,842 (GRCm39) T550A possibly damaging Het
Vmn2r72 A G 7: 85,400,161 (GRCm39) V296A probably damaging Het
Vmn2r91 C A 17: 18,356,431 (GRCm39) Y699* probably null 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
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
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'- CATCCCAGCCCTCTGAAATG -3'
(R):5'- CAGTAAGCATGATTTAGCCTTTGG -3'

Sequencing Primer
(F):5'- CTGGTGGTACTTTCCACA -3'
(R):5'- GAAGGACCATCTCCAGTGTTATG -3'
Posted On 2014-11-12