Incidental Mutation 'R4519:Rgs17'
ID 334130
Institutional Source Beutler Lab
Gene Symbol Rgs17
Ensembl Gene ENSMUSG00000019775
Gene Name regulator of G-protein signaling 17
Synonyms 6430507P11Rik, RGSZ2
MMRRC Submission 041590-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R4519 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 5775663-5872400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5868192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 9 (L9F)
Ref Sequence ENSEMBL: ENSMUSP00000065825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019909] [ENSMUST00000064225] [ENSMUST00000117676] [ENSMUST00000131996]
AlphaFold Q9QZB0
Predicted Effect probably benign
Transcript: ENSMUST00000019909
SMART Domains Protein: ENSMUSP00000019909
Gene: ENSMUSG00000019775

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 163 7.96e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064225
AA Change: L9F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065825
Gene: ENSMUSG00000019775
AA Change: L9F

DomainStartEndE-ValueType
low complexity region 48 60 N/A INTRINSIC
RGS 104 220 4.54e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117676
SMART Domains Protein: ENSMUSP00000113519
Gene: ENSMUSG00000019775

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131996
SMART Domains Protein: ENSMUSP00000116291
Gene: ENSMUSG00000019775

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik A G 9: 114,129,092 (GRCm39) noncoding transcript Het
Acadsb A T 7: 131,031,733 (GRCm39) T190S probably damaging Het
Adamts17 G T 7: 66,490,314 (GRCm39) G132V probably damaging Het
Atosa A G 9: 74,930,929 (GRCm39) I957M probably damaging Het
Atp8b3 C T 10: 80,359,681 (GRCm39) M984I probably benign Het
Atp8b4 A T 2: 126,256,379 (GRCm39) probably null Het
Btbd18 T C 2: 84,497,924 (GRCm39) Y521H probably damaging Het
Casd1 A G 6: 4,621,102 (GRCm39) N220S probably benign Het
Ccdc112 T G 18: 46,420,613 (GRCm39) E379A possibly damaging Het
Ccdc88a T C 11: 29,432,651 (GRCm39) I1219T probably benign Het
Cntrl A T 2: 35,063,123 (GRCm39) K1573M probably damaging Het
Col14a1 A T 15: 55,251,975 (GRCm39) I544F unknown Het
Cyp20a1 A T 1: 60,426,306 (GRCm39) Y416F probably damaging Het
Dagla T C 19: 10,247,096 (GRCm39) K132E probably damaging Het
Dbn1 A T 13: 55,624,042 (GRCm39) I350N possibly damaging Het
Ddx41 A T 13: 55,680,957 (GRCm39) V329E probably damaging Het
Dhx32 A T 7: 133,335,838 (GRCm39) Y272N probably damaging Het
Fam114a1 C A 5: 65,163,225 (GRCm39) P174Q probably benign Het
Galnt3 C A 2: 65,923,954 (GRCm39) R438L probably damaging Het
Ghr T A 15: 3,362,970 (GRCm39) L167F probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Gm9767 T C 10: 25,954,756 (GRCm39) probably benign Het
Golga4 T A 9: 118,388,076 (GRCm39) S1733T probably benign Het
Gsdme A T 6: 50,206,333 (GRCm39) I170N probably damaging Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Kmt2c T A 5: 25,568,475 (GRCm39) K867M probably damaging Het
Krt35 A G 11: 99,985,453 (GRCm39) V196A possibly damaging Het
Ltbp1 A T 17: 75,671,492 (GRCm39) M1558L probably benign Het
Mcam T G 9: 44,052,640 (GRCm39) M623R possibly damaging Het
Mrps26 A T 2: 130,406,269 (GRCm39) Q134L probably benign Het
Mxra8 T C 4: 155,927,440 (GRCm39) probably null Het
Or13a21 A G 7: 139,999,123 (GRCm39) S188P probably damaging Het
Or52n20 G A 7: 104,320,046 (GRCm39) G46R probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Parg C A 14: 31,931,592 (GRCm39) T404K probably damaging Het
Parp8 C A 13: 117,032,209 (GRCm39) L321F possibly damaging Het
Piezo2 T C 18: 63,205,951 (GRCm39) E1486G probably damaging Het
Pign A T 1: 105,525,391 (GRCm39) probably null Het
Pik3r4 A G 9: 105,549,924 (GRCm39) H1005R probably damaging Het
Ppp6r1 A C 7: 4,644,045 (GRCm39) probably null Het
Ptdss2 A G 7: 140,734,491 (GRCm39) T309A probably benign Het
Ptprt T C 2: 161,406,609 (GRCm39) M987V probably damaging Het
Rock2 A G 12: 17,027,738 (GRCm39) R168G probably damaging Het
Rsph4a T A 10: 33,787,623 (GRCm39) L593* probably null Het
Scaf11 C A 15: 96,322,719 (GRCm39) K108N probably damaging Het
Sec23b T A 2: 144,423,935 (GRCm39) M528K possibly damaging Het
Shank2 G A 7: 143,963,942 (GRCm39) D727N probably damaging Het
Sipa1l2 T C 8: 126,218,965 (GRCm39) D124G probably benign Het
Spatc1 A T 15: 76,176,685 (GRCm39) I479F probably damaging Het
Tmem126b A G 7: 90,118,316 (GRCm39) L188P probably damaging Het
Tnrc6b T G 15: 80,764,448 (GRCm39) L650W probably damaging Het
Vmn2r62 A G 7: 42,413,957 (GRCm39) F829L probably 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
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'- ACCCCATAGTCTTTACCATTGAGC -3'
(R):5'- AGTAACTCATCGGATGCATGAC -3'

Sequencing Primer
(F):5'- ATAGTCTTTACCATTGAGCTTTTCC -3'
(R):5'- CGGATGCATGACTTAATTTATTAGCC -3'
Posted On 2015-08-18