Incidental Mutation 'IGL00790:Rgs17'
ID 13814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs17
Ensembl Gene ENSMUSG00000019775
Gene Name regulator of G-protein signaling 17
Synonyms 6430507P11Rik, RGSZ2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # IGL00790
Quality Score
Status
Chromosome 10
Chromosomal Location 5775663-5872400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5862624 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 25 (Q25P)
Ref Sequence ENSEMBL: ENSMUSP00000065825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019909] [ENSMUST00000064225] [ENSMUST00000117676] [ENSMUST00000131996]
AlphaFold Q9QZB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000019909
AA Change: Q5P

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019909
Gene: ENSMUSG00000019775
AA Change: Q5P

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: Q25P

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065825
Gene: ENSMUSG00000019775
AA Change: Q25P

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: Q5P

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113519
Gene: ENSMUSG00000019775
AA Change: Q5P

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: Q5P

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116291
Gene: ENSMUSG00000019775
AA Change: Q5P

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
RGS 84 200 4.54e-49 SMART
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 66,291,175 (GRCm39) N1419K probably benign Het
Arhgef18 A G 8: 3,479,553 (GRCm39) E79G probably damaging Het
Art4 T A 6: 136,831,493 (GRCm39) Q216L probably damaging Het
Bbs4 T C 9: 59,231,348 (GRCm39) D407G probably benign Het
Cherp A G 8: 73,222,090 (GRCm39) I277T probably damaging Het
Cnot2 A G 10: 116,342,976 (GRCm39) M119T probably benign Het
Disp2 T A 2: 118,616,759 (GRCm39) C73S probably damaging Het
Dock4 T C 12: 40,884,390 (GRCm39) S1686P probably damaging Het
Dsc1 C T 18: 20,227,953 (GRCm39) G468S probably damaging Het
Duox2 T A 2: 122,122,781 (GRCm39) D551V possibly damaging Het
Gmip T A 8: 70,269,661 (GRCm39) Y585* probably null Het
Gnal A G 18: 67,267,360 (GRCm39) probably null Het
Idh1 T G 1: 65,205,281 (GRCm39) Q228P possibly damaging Het
Igsf10 A T 3: 59,226,938 (GRCm39) I2245N probably damaging Het
Mrgpra4 A T 7: 47,631,052 (GRCm39) M183K possibly damaging Het
Npr2 T A 4: 43,641,612 (GRCm39) V472D possibly damaging Het
Pcdh7 A T 5: 57,878,806 (GRCm39) N787I probably damaging Het
Phf8-ps A G 17: 33,286,361 (GRCm39) V147A probably damaging Het
Ppp1r10 A T 17: 36,235,751 (GRCm39) N111I probably damaging Het
Ppp3ca A G 3: 136,640,942 (GRCm39) N508D probably benign Het
Slco6d1 T A 1: 98,348,925 (GRCm39) probably benign Het
Tab3 T A X: 84,665,210 (GRCm39) N591K probably damaging Het
Tfcp2 T C 15: 100,411,059 (GRCm39) probably benign Het
Them5 A T 3: 94,250,716 (GRCm39) D93V probably damaging Het
Thoc5 T G 11: 4,868,147 (GRCm39) V275G probably damaging Het
Trmt1l T C 1: 151,318,463 (GRCm39) probably null Het
Zdbf2 G T 1: 63,345,673 (GRCm39) V1351F possibly damaging Het
Zfp14 G T 7: 29,738,312 (GRCm39) Y224* probably null Het
Zfp606 T G 7: 12,228,159 (GRCm39) M702R probably damaging Het
Other mutations in Rgs17
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06