Incidental Mutation 'R7276:Rgs12'
ID 565568
Institutional Source Beutler Lab
Gene Symbol Rgs12
Ensembl Gene ENSMUSG00000029101
Gene Name regulator of G-protein signaling 12
Synonyms 4632412M04Rik, 1200016K18Rik
MMRRC Submission 045359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R7276 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35106789-35196988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35183715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1026 (D1026G)
Ref Sequence ENSEMBL: ENSMUSP00000030984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030984] [ENSMUST00000087684] [ENSMUST00000114280] [ENSMUST00000114281] [ENSMUST00000114283] [ENSMUST00000114284] [ENSMUST00000114285] [ENSMUST00000156339]
AlphaFold Q8CGE9
Predicted Effect probably benign
Transcript: ENSMUST00000030984
AA Change: D1026G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: D1026G

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 benign
Transcript: ENSMUST00000087684
AA Change: D1026G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: D1026G

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: D368G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101
AA Change: D368G

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 benign
Transcript: ENSMUST00000114281
AA Change: D368G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: D368G

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 benign
Transcript: ENSMUST00000114283
AA Change: D368G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: D368G

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 probably benign
Transcript: ENSMUST00000114284
AA Change: D378G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: D378G

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 benign
Transcript: ENSMUST00000114285
AA Change: D378G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: D378G

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 probably benign
Transcript: ENSMUST00000150139
SMART Domains Protein: ENSMUSP00000117158
Gene: ENSMUSG00000029101

DomainStartEndE-ValueType
Blast:RBD 2 33 5e-13 BLAST
Pfam:RGS12_us2 35 80 5.8e-13 PFAM
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
Predicted Effect
SMART Domains Protein: ENSMUSP00000116913
Gene: ENSMUSG00000029101
AA Change: D84G

DomainStartEndE-ValueType
RBD 21 91 3.12e-28 SMART
RBD 93 163 2.44e-21 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930455H04Rik T C 3: 116,762,227 (GRCm39) V26A unknown Het
4930546C10Rik C T 18: 69,083,093 (GRCm39) W40* probably null Het
Abcc5 T C 16: 20,195,258 (GRCm39) probably null Het
Adamts18 T A 8: 114,501,896 (GRCm39) M322L probably damaging Het
Ankrd44 T A 1: 54,774,239 (GRCm39) N406I probably benign Het
Arhgap35 T G 7: 16,298,493 (GRCm39) T191P probably damaging Het
Atg3 G A 16: 44,982,805 (GRCm39) E37K possibly damaging Het
Bbs1 A T 19: 4,947,738 (GRCm39) probably null Het
BC048562 A G 9: 108,322,435 (GRCm39) N60D probably damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
C7 A T 15: 5,041,449 (GRCm39) C486S probably damaging Het
Cchcr1 C A 17: 35,840,031 (GRCm39) Q634K possibly damaging Het
Cd93 A T 2: 148,283,660 (GRCm39) V562E probably damaging Het
Cemip2 A G 19: 21,812,824 (GRCm39) I1010V probably benign Het
Cript T A 17: 87,341,696 (GRCm39) Y50* probably null Het
Dnah14 T A 1: 181,513,372 (GRCm39) F1908L probably benign Het
Dnah5 A G 15: 28,367,984 (GRCm39) N2790D probably damaging Het
Eif3h C A 15: 51,728,717 (GRCm39) probably null Het
Ffar3 C G 7: 30,555,273 (GRCm39) V16L possibly damaging Het
Gcn1 C T 5: 115,749,119 (GRCm39) R1884W probably damaging Het
Gpatch1 T A 7: 34,996,921 (GRCm39) M426L probably benign Het
Hcn2 T A 10: 79,564,934 (GRCm39) Y449N possibly damaging Het
Hdac10 T C 15: 89,012,488 (GRCm39) T32A probably benign Het
Hykk T C 9: 54,853,502 (GRCm39) Y275H probably damaging Het
Igfn1 G C 1: 135,926,376 (GRCm39) P25A possibly damaging Het
Jph1 T C 1: 17,162,266 (GRCm39) Q132R probably damaging Het
Kat2b T A 17: 53,931,450 (GRCm39) D149E probably damaging Het
Knl1 A T 2: 118,902,167 (GRCm39) K1289N probably damaging Het
Lrrc37a G A 11: 103,347,572 (GRCm39) S3041L unknown Het
Mtrex A T 13: 113,050,973 (GRCm39) Y201N probably benign Het
Mtus2 C T 5: 148,013,368 (GRCm39) R54C probably benign Het
Myo1d A T 11: 80,583,898 (GRCm39) I38N probably damaging Het
Nasp A G 4: 116,471,546 (GRCm39) S94P probably damaging Het
Nfat5 C A 8: 108,093,731 (GRCm39) N657K probably benign Het
Ngfr A G 11: 95,465,170 (GRCm39) L226P probably benign Het
Nos1 T C 5: 118,048,303 (GRCm39) S703P probably damaging Het
Nsun7 A G 5: 66,434,484 (GRCm39) D275G probably benign Het
Oas1d A G 5: 121,054,944 (GRCm39) N172S possibly damaging Het
Or11h4 A G 14: 50,974,187 (GRCm39) V144A possibly damaging Het
Or2y17 T A 11: 49,231,821 (GRCm39) M154K probably benign Het
Or4c11b T A 2: 88,625,025 (GRCm39) F100I probably damaging Het
Or52e8 T A 7: 104,624,857 (GRCm39) M116L possibly damaging Het
Papss1 A G 3: 131,324,995 (GRCm39) E484G probably benign Het
Pcdh15 A G 10: 74,160,224 (GRCm39) D447G probably benign Het
Phkg2 A G 7: 127,181,558 (GRCm39) E247G possibly damaging Het
Pramel30 A G 4: 144,059,216 (GRCm39) E309G possibly damaging Het
Prelid2 T C 18: 42,045,487 (GRCm39) N141S possibly damaging Het
Psg18 T C 7: 18,079,909 (GRCm39) M431V probably damaging Het
Psmd12 A T 11: 107,394,471 (GRCm39) R397* probably null Het
Ralgds G A 2: 28,435,884 (GRCm39) R503Q probably damaging Het
Rb1cc1 G A 1: 6,319,416 (GRCm39) C945Y probably benign Het
Scn7a G A 2: 66,587,506 (GRCm39) P66S probably damaging Het
Supt16 T C 14: 52,414,458 (GRCm39) E448G probably benign Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Tas2r114 T C 6: 131,666,310 (GRCm39) I239M probably damaging Het
Tecpr1 C T 5: 144,153,838 (GRCm39) W138* probably null Het
Tex101 T C 7: 24,369,829 (GRCm39) N45S probably damaging Het
Tmx1 C A 12: 70,512,917 (GRCm39) T275K possibly damaging Het
Trappc8 T G 18: 20,951,148 (GRCm39) I1434L probably damaging Het
Trappc9 G T 15: 72,924,119 (GRCm39) H208N probably damaging Het
Trcg1 T A 9: 57,149,862 (GRCm39) L478Q probably damaging Het
Trim42 G T 9: 97,251,625 (GRCm39) Y91* probably null Het
Vmn2r114 A G 17: 23,509,934 (GRCm39) S849P probably damaging Het
Vmn2r120 T C 17: 57,831,881 (GRCm39) T303A probably benign Het
Vmn2r13 A G 5: 109,321,645 (GRCm39) W351R probably damaging Het
Vmn2r53 T C 7: 12,340,359 (GRCm39) D38G probably damaging Het
Vsig8 C A 1: 172,390,850 (GRCm39) C411* probably null Het
Vwce A T 19: 10,641,538 (GRCm39) T755S possibly damaging Het
Wwp1 T C 4: 19,611,782 (GRCm39) S897G probably damaging Het
Zfp111 C A 7: 23,898,978 (GRCm39) C212F probably damaging Het
Zfp385b G T 2: 77,280,624 (GRCm39) H193N probably damaging Het
Zfp811 T C 17: 33,017,755 (GRCm39) E95G 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
R6113:Rgs12 UTSW 5 35,177,667 (GRCm39) missense probably damaging 0.99
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
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'- GTTAGTGCTCCACTCCTGAC -3'
(R):5'- AGCCCATATGTGGTGCCTTC -3'

Sequencing Primer
(F):5'- CAGAGCAGCTGCAGGTG -3'
(R):5'- CCCCGTTGCCAAGACTCTG -3'
Posted On 2019-06-26