Incidental Mutation 'R6113:Rgs12'
ID 484948
Institutional Source Beutler Lab
Gene Symbol Rgs12
Ensembl Gene ENSMUSG00000029101
Gene Name regulator of G-protein signaling 12
Synonyms 4632412M04Rik, 1200016K18Rik
MMRRC Submission 044262-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R6113 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35106789-35196988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35177667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 76 (R76S)
Ref Sequence ENSEMBL: ENSMUSP00000109922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030984] [ENSMUST00000087684] [ENSMUST00000114280] [ENSMUST00000114281] [ENSMUST00000114283] [ENSMUST00000114284] [ENSMUST00000114285] [ENSMUST00000225237] [ENSMUST00000156339]
AlphaFold Q8CGE9
Predicted Effect probably benign
Transcript: ENSMUST00000030984
AA Change: R734S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: R734S

DomainStartEndE-ValueType
PDZ 29 98 5.25e-18 SMART
PTB 224 373 5.05e-28 SMART
low complexity region 443 456 N/A INTRINSIC
low complexity region 643 661 N/A INTRINSIC
low complexity region 685 697 N/A INTRINSIC
RGS 715 832 2.84e-41 SMART
low complexity region 849 865 N/A INTRINSIC
low complexity region 868 880 N/A INTRINSIC
low complexity region 911 928 N/A INTRINSIC
RBD 962 1032 3.12e-28 SMART
RBD 1034 1104 2.44e-21 SMART
GoLoco 1187 1209 9.74e-9 SMART
low complexity region 1259 1280 N/A INTRINSIC
low complexity region 1292 1308 N/A INTRINSIC
low complexity region 1359 1378 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000087684
AA Change: R734S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: R734S

DomainStartEndE-ValueType
PDZ 29 98 5.25e-18 SMART
PTB 224 373 5.05e-28 SMART
low complexity region 443 456 N/A INTRINSIC
low complexity region 643 661 N/A INTRINSIC
low complexity region 685 697 N/A INTRINSIC
RGS 715 832 2.84e-41 SMART
Pfam:RGS12_us1 836 953 4.3e-61 PFAM
RBD 962 1032 3.12e-28 SMART
RBD 1034 1104 2.44e-21 SMART
Pfam:RGS12_us2 1106 1180 2.4e-37 PFAM
GoLoco 1187 1209 9.74e-9 SMART
Pfam:RGS12_usC 1238 1379 9.2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114280
AA Change: R76S

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101
AA Change: R76S

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
RGS 57 174 2.84e-41 SMART
low complexity region 191 207 N/A INTRINSIC
low complexity region 210 222 N/A INTRINSIC
low complexity region 253 270 N/A INTRINSIC
RBD 304 374 3.12e-28 SMART
RBD 376 446 2.44e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114281
AA Change: R76S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: R76S

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
RGS 57 174 2.84e-41 SMART
low complexity region 191 207 N/A INTRINSIC
low complexity region 210 222 N/A INTRINSIC
low complexity region 253 270 N/A INTRINSIC
RBD 304 374 3.12e-28 SMART
RBD 376 446 2.44e-21 SMART
GoLoco 529 551 9.74e-9 SMART
low complexity region 601 622 N/A INTRINSIC
low complexity region 634 650 N/A INTRINSIC
low complexity region 701 720 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114283
AA Change: R76S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: R76S

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
RGS 57 174 2.84e-41 SMART
low complexity region 191 207 N/A INTRINSIC
low complexity region 210 222 N/A INTRINSIC
low complexity region 253 270 N/A INTRINSIC
RBD 304 374 3.12e-28 SMART
RBD 376 446 2.44e-21 SMART
GoLoco 529 551 9.74e-9 SMART
low complexity region 601 622 N/A INTRINSIC
low complexity region 634 650 N/A INTRINSIC
low complexity region 697 729 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114284
AA Change: R86S

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: R86S

DomainStartEndE-ValueType
low complexity region 37 49 N/A INTRINSIC
RGS 67 184 2.84e-41 SMART
low complexity region 201 217 N/A INTRINSIC
low complexity region 220 232 N/A INTRINSIC
low complexity region 263 280 N/A INTRINSIC
RBD 314 384 3.12e-28 SMART
RBD 386 456 2.44e-21 SMART
GoLoco 539 561 9.74e-9 SMART
low complexity region 611 632 N/A INTRINSIC
low complexity region 644 660 N/A INTRINSIC
low complexity region 711 730 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114285
AA Change: R86S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: R86S

DomainStartEndE-ValueType
low complexity region 37 49 N/A INTRINSIC
RGS 67 184 2.84e-41 SMART
low complexity region 201 217 N/A INTRINSIC
low complexity region 220 232 N/A INTRINSIC
low complexity region 263 280 N/A INTRINSIC
RBD 314 384 3.12e-28 SMART
RBD 386 456 2.44e-21 SMART
GoLoco 539 561 9.74e-9 SMART
low complexity region 611 632 N/A INTRINSIC
low complexity region 644 660 N/A INTRINSIC
low complexity region 707 739 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153972
Predicted Effect probably benign
Transcript: ENSMUST00000156819
SMART Domains Protein: ENSMUSP00000116913
Gene: ENSMUSG00000029101

DomainStartEndE-ValueType
RBD 21 91 3.12e-28 SMART
RBD 93 163 2.44e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225237
Predicted Effect probably benign
Transcript: ENSMUST00000201936
Predicted Effect probably benign
Transcript: ENSMUST00000156339
SMART Domains Protein: ENSMUSP00000115064
Gene: ENSMUSG00000029101

DomainStartEndE-ValueType
Pfam:RGS 1 30 1.3e-7 PFAM
low complexity region 48 64 N/A INTRINSIC
low complexity region 67 79 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency 100% (58/58)
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' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C A 16: 8,390,764 (GRCm39) T7N probably benign Het
Aldh1l2 G T 10: 83,343,998 (GRCm39) C359* probably null Het
Atpsckmt T C 15: 31,608,308 (GRCm39) Y120H probably damaging Het
Bpifb6 G A 2: 153,752,651 (GRCm39) E384K probably benign Het
Chtf18 G A 17: 25,941,841 (GRCm39) R544C probably damaging Het
Cilp2 T C 8: 70,335,009 (GRCm39) D663G probably benign Het
Cplx3 T A 9: 57,509,723 (GRCm39) I92F probably damaging Het
Cr1l T C 1: 194,813,719 (GRCm39) probably benign Het
Cyp1a1 T A 9: 57,609,174 (GRCm39) F323I probably damaging Het
Dclk1 T C 3: 55,397,240 (GRCm39) Y186H probably benign Het
Dclre1c T C 2: 3,453,900 (GRCm39) L261P probably damaging Het
Dcst2 T C 3: 89,275,192 (GRCm39) S312P possibly damaging Het
Dnah17 A G 11: 118,017,101 (GRCm39) L213P probably damaging Het
Dnd1 T A 18: 36,898,448 (GRCm39) Y102F probably damaging Het
Dnm1l T C 16: 16,158,867 (GRCm39) N121S probably benign Het
Dsp T A 13: 38,376,023 (GRCm39) N1269K probably damaging Het
Dync1h1 T C 12: 110,586,848 (GRCm39) V943A probably benign Het
Eml5 T A 12: 98,790,933 (GRCm39) K1322* probably null Het
Fgf23 A G 6: 127,055,117 (GRCm39) T76A probably benign Het
Fgf6 T C 6: 126,992,900 (GRCm39) probably null Het
Fkbp15 G A 4: 62,258,884 (GRCm39) T124I probably benign Het
Gm12185 A T 11: 48,806,167 (GRCm39) H341Q possibly damaging Het
Gm20647 A G 5: 72,487,143 (GRCm39) probably benign Het
Lrp2 G C 2: 69,313,901 (GRCm39) R2277G possibly damaging Het
Lrrc69 T C 4: 14,708,673 (GRCm39) T224A probably benign Het
Ly75 T G 2: 60,199,217 (GRCm39) I175L probably benign Het
Morc2b G T 17: 33,357,042 (GRCm39) Y243* probably null Het
Myo18b C G 5: 113,014,251 (GRCm39) D764H probably damaging Het
Naip6 T C 13: 100,435,794 (GRCm39) S910G possibly damaging Het
Nbeal1 T A 1: 60,261,422 (GRCm39) I21N possibly damaging Het
P3h2 A T 16: 25,799,903 (GRCm39) I430K probably benign Het
Pcdh9 A G 14: 94,124,544 (GRCm39) V542A probably damaging Het
Pkp3 T A 7: 140,662,569 (GRCm39) N60K probably damaging Het
Pold1 C A 7: 44,187,124 (GRCm39) G686C probably damaging Het
Prdm6 T A 18: 53,606,673 (GRCm39) L58Q probably damaging Het
Rab13 C A 3: 90,132,173 (GRCm39) R86S probably benign Het
Rad21l A C 2: 151,499,398 (GRCm39) L265V probably damaging Het
Rec8 G A 14: 55,859,935 (GRCm39) A228T probably damaging Het
Sfmbt1 A G 14: 30,537,141 (GRCm39) N670D possibly damaging Het
Slc17a7 A G 7: 44,824,175 (GRCm39) T464A possibly damaging Het
Srcap C A 7: 127,159,453 (GRCm39) probably benign Het
Srgap2 A T 1: 131,283,243 (GRCm39) probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Thpo C A 16: 20,547,597 (GRCm39) probably benign Het
Tle4 A T 19: 14,572,952 (GRCm39) probably null Het
Tnfrsf14 T C 4: 155,008,949 (GRCm39) Q74R possibly damaging Het
Trav15-2-dv6-2 T G 14: 53,887,182 (GRCm39) V34G probably benign Het
Trbv13-1 C T 6: 41,093,313 (GRCm39) A82V probably benign Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Trpv3 G A 11: 73,176,844 (GRCm39) V408I probably benign Het
Tyk2 A T 9: 21,019,218 (GRCm39) V1068E probably damaging Het
Usp35 A G 7: 96,973,533 (GRCm39) S230P probably damaging Het
Utp25 T C 1: 192,811,810 (GRCm39) I46V probably null Het
Vav1 T A 17: 57,608,884 (GRCm39) D349E probably benign Het
Vcan T A 13: 89,805,655 (GRCm39) R114* probably null Het
Vmn1r25 T C 6: 57,955,557 (GRCm39) E244G probably benign Het
Vmn2r5 T C 3: 64,398,820 (GRCm39) T720A probably benign Het
Wdr72 T A 9: 74,059,923 (GRCm39) D444E probably benign Het
Zfhx3 T A 8: 109,674,053 (GRCm39) M1701K probably benign Het
Other mutations in Rgs12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Rgs12 APN 5 35,132,563 (GRCm39) missense probably benign 0.25
IGL02296:Rgs12 APN 5 35,123,464 (GRCm39) missense probably damaging 0.96
IGL02337:Rgs12 APN 5 35,177,697 (GRCm39) missense probably damaging 1.00
IGL02483:Rgs12 APN 5 35,187,861 (GRCm39) missense probably damaging 1.00
IGL02869:Rgs12 APN 5 35,183,227 (GRCm39) missense probably damaging 0.97
IGL02989:Rgs12 APN 5 35,122,463 (GRCm39) missense probably damaging 1.00
R0015:Rgs12 UTSW 5 35,180,120 (GRCm39) unclassified probably benign
R0015:Rgs12 UTSW 5 35,180,120 (GRCm39) unclassified probably benign
R0046:Rgs12 UTSW 5 35,122,664 (GRCm39) missense probably damaging 1.00
R0046:Rgs12 UTSW 5 35,122,664 (GRCm39) missense probably damaging 1.00
R0106:Rgs12 UTSW 5 35,124,008 (GRCm39) missense probably benign 0.03
R0106:Rgs12 UTSW 5 35,124,008 (GRCm39) missense probably benign 0.03
R0233:Rgs12 UTSW 5 35,187,842 (GRCm39) missense probably damaging 1.00
R0233:Rgs12 UTSW 5 35,187,842 (GRCm39) missense probably damaging 1.00
R0245:Rgs12 UTSW 5 35,187,424 (GRCm39) missense probably benign 0.01
R0611:Rgs12 UTSW 5 35,176,804 (GRCm39) missense probably damaging 1.00
R0704:Rgs12 UTSW 5 35,180,466 (GRCm39) missense possibly damaging 0.95
R0723:Rgs12 UTSW 5 35,181,710 (GRCm39) unclassified probably benign
R1174:Rgs12 UTSW 5 35,123,809 (GRCm39) missense probably benign 0.00
R1538:Rgs12 UTSW 5 35,178,511 (GRCm39) missense probably damaging 0.98
R1556:Rgs12 UTSW 5 35,196,626 (GRCm39) missense possibly damaging 0.67
R1774:Rgs12 UTSW 5 35,123,747 (GRCm39) missense probably benign 0.34
R1791:Rgs12 UTSW 5 35,123,456 (GRCm39) missense possibly damaging 0.86
R1866:Rgs12 UTSW 5 35,123,018 (GRCm39) missense probably damaging 1.00
R1872:Rgs12 UTSW 5 35,123,165 (GRCm39) missense probably damaging 1.00
R1923:Rgs12 UTSW 5 35,189,613 (GRCm39) missense probably damaging 1.00
R2012:Rgs12 UTSW 5 35,187,872 (GRCm39) missense probably benign 0.00
R2107:Rgs12 UTSW 5 35,124,079 (GRCm39) missense possibly damaging 0.68
R3730:Rgs12 UTSW 5 35,189,595 (GRCm39) missense probably damaging 1.00
R3731:Rgs12 UTSW 5 35,189,595 (GRCm39) missense probably damaging 1.00
R3808:Rgs12 UTSW 5 35,189,698 (GRCm39) missense probably damaging 1.00
R3826:Rgs12 UTSW 5 35,123,359 (GRCm39) missense possibly damaging 0.94
R3827:Rgs12 UTSW 5 35,123,359 (GRCm39) missense possibly damaging 0.94
R3829:Rgs12 UTSW 5 35,123,359 (GRCm39) missense possibly damaging 0.94
R3830:Rgs12 UTSW 5 35,123,359 (GRCm39) missense possibly damaging 0.94
R4392:Rgs12 UTSW 5 35,189,655 (GRCm39) missense probably damaging 1.00
R4617:Rgs12 UTSW 5 35,177,700 (GRCm39) missense probably damaging 1.00
R5132:Rgs12 UTSW 5 35,147,156 (GRCm39) intron probably benign
R5213:Rgs12 UTSW 5 35,122,664 (GRCm39) missense probably damaging 1.00
R5296:Rgs12 UTSW 5 35,178,448 (GRCm39) unclassified probably benign
R5480:Rgs12 UTSW 5 35,123,455 (GRCm39) missense probably benign 0.09
R5510:Rgs12 UTSW 5 35,123,383 (GRCm39) missense probably damaging 1.00
R5708:Rgs12 UTSW 5 35,123,696 (GRCm39) missense probably benign 0.41
R5987:Rgs12 UTSW 5 35,177,689 (GRCm39) missense probably damaging 1.00
R6053:Rgs12 UTSW 5 35,123,296 (GRCm39) missense probably benign 0.01
R6401:Rgs12 UTSW 5 35,177,676 (GRCm39) missense probably damaging 1.00
R6736:Rgs12 UTSW 5 35,180,436 (GRCm39) missense probably damaging 1.00
R6807:Rgs12 UTSW 5 35,180,515 (GRCm39) missense probably null 0.27
R6857:Rgs12 UTSW 5 35,187,366 (GRCm39) nonsense probably null
R7082:Rgs12 UTSW 5 35,124,050 (GRCm39) missense probably benign 0.00
R7250:Rgs12 UTSW 5 35,122,841 (GRCm39) missense probably damaging 1.00
R7276:Rgs12 UTSW 5 35,183,715 (GRCm39) missense probably benign 0.06
R7444:Rgs12 UTSW 5 35,183,287 (GRCm39) missense possibly damaging 0.65
R7632:Rgs12 UTSW 5 35,122,934 (GRCm39) missense probably damaging 1.00
R8049:Rgs12 UTSW 5 35,183,374 (GRCm39) missense possibly damaging 0.89
R8089:Rgs12 UTSW 5 35,177,692 (GRCm39) missense probably damaging 1.00
R8241:Rgs12 UTSW 5 35,123,117 (GRCm39) missense probably damaging 1.00
R8797:Rgs12 UTSW 5 35,186,915 (GRCm39) missense
R8927:Rgs12 UTSW 5 35,123,633 (GRCm39) missense possibly damaging 0.93
R8928:Rgs12 UTSW 5 35,123,633 (GRCm39) missense possibly damaging 0.93
R9073:Rgs12 UTSW 5 35,177,753 (GRCm39) unclassified probably benign
R9211:Rgs12 UTSW 5 35,123,165 (GRCm39) missense probably damaging 0.98
R9485:Rgs12 UTSW 5 35,189,614 (GRCm39) missense probably damaging 0.99
R9550:Rgs12 UTSW 5 35,196,665 (GRCm39) missense probably damaging 0.99
Z1176:Rgs12 UTSW 5 35,123,113 (GRCm39) missense probably damaging 1.00
Z1177:Rgs12 UTSW 5 35,183,696 (GRCm39) missense probably benign 0.44
Z1177:Rgs12 UTSW 5 35,122,198 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GCCCTTGAGAAAAGAGCTGTG -3'
(R):5'- GAAGCAGAAATGTCACCGTTC -3'

Sequencing Primer
(F):5'- GAGCTGTGAGGCAGATGGC -3'
(R):5'- CTTTAAAGTCAGTAAGAAGCATCCC -3'
Posted On 2017-08-16