Incidental Mutation 'IGL00790:Rgs17'
ID13814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs17
Ensembl Gene ENSMUSG00000019775
Gene Nameregulator of G-protein signaling 17
Synonyms6430507P11Rik, RGSZ2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.307) question?
Stock #IGL00790
Quality Score
Status
Chromosome10
Chromosomal Location5825663-5922400 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5862624 bp
ZygosityHeterozygous
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]
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
4921501E09Rik A G 17: 33,067,387 V147A probably damaging Het
AC139131.1 T G 7: 12,494,232 M702R probably damaging Het
Ankrd12 A T 17: 65,984,180 N1419K probably benign Het
Arhgef18 A G 8: 3,429,553 E79G probably damaging Het
Art4 T A 6: 136,854,495 Q216L probably damaging Het
Bbs4 T C 9: 59,324,065 D407G probably benign Het
Cherp A G 8: 72,468,246 I277T probably damaging Het
Cnot2 A G 10: 116,507,071 M119T probably benign Het
Disp2 T A 2: 118,786,278 C73S probably damaging Het
Dock4 T C 12: 40,834,391 S1686P probably damaging Het
Dsc1 C T 18: 20,094,896 G468S probably damaging Het
Duox2 T A 2: 122,292,300 D551V possibly damaging Het
Gmip T A 8: 69,817,011 Y585* probably null Het
Gnal A G 18: 67,134,289 probably null Het
Idh1 T G 1: 65,166,122 Q228P possibly damaging Het
Igsf10 A T 3: 59,319,517 I2245N probably damaging Het
Mrgpra4 A T 7: 47,981,304 M183K possibly damaging Het
Npr2 T A 4: 43,641,612 V472D possibly damaging Het
Pcdh7 A T 5: 57,721,464 N787I probably damaging Het
Ppp1r10 A T 17: 35,924,859 N111I probably damaging Het
Ppp3ca A G 3: 136,935,181 N508D probably benign Het
Slco6d1 T A 1: 98,421,200 probably benign Het
Tab3 T A X: 85,621,604 N591K probably damaging Het
Tfcp2 T C 15: 100,513,178 probably benign Het
Them5 A T 3: 94,343,409 D93V probably damaging Het
Thoc5 T G 11: 4,918,147 V275G probably damaging Het
Trmt1l T C 1: 151,442,712 probably null Het
Zdbf2 G T 1: 63,306,514 V1351F possibly damaging Het
Zfp14 G T 7: 30,038,887 Y224* probably null Het
Other mutations in Rgs17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0099:Rgs17 UTSW 10 5842583 missense probably benign 0.18
R1564:Rgs17 UTSW 10 5842567 nonsense probably null
R2424:Rgs17 UTSW 10 5833111 missense probably damaging 1.00
R2424:Rgs17 UTSW 10 5842560 missense probably benign 0.33
R4519:Rgs17 UTSW 10 5918192 missense probably benign 0.00
R4585:Rgs17 UTSW 10 5842596 missense probably benign 0.00
R5738:Rgs17 UTSW 10 5833140 missense probably damaging 1.00
R6744:Rgs17 UTSW 10 5842567 missense possibly damaging 0.55
R7625:Rgs17 UTSW 10 5841488 missense probably benign
R7816:Rgs17 UTSW 10 5841501 missense probably benign
Posted On2012-12-06