Incidental Mutation 'R6857:Rgs12'
ID 535308
Institutional Source Beutler Lab
Gene Symbol Rgs12
Ensembl Gene ENSMUSG00000029101
Gene Name regulator of G-protein signaling 12
Synonyms 4632412M04Rik, 1200016K18Rik
MMRRC Submission 044959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R6857 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35106789-35196988 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 35187366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 213 (K213*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030984] [ENSMUST00000087684] [ENSMUST00000114280] [ENSMUST00000114281] [ENSMUST00000114283] [ENSMUST00000114284] [ENSMUST00000114285]
AlphaFold Q8CGE9
Predicted Effect probably null
Transcript: ENSMUST00000030984
AA Change: K1115*
SMART Domains Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: K1115*

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 null
Transcript: ENSMUST00000087684
AA Change: K1115*
SMART Domains Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: K1115*

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 null
Transcript: ENSMUST00000114280
AA Change: K457*
SMART Domains Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101
AA Change: K457*

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 null
Transcript: ENSMUST00000114281
AA Change: K457*
SMART Domains Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: K457*

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 null
Transcript: ENSMUST00000114283
AA Change: K457*
SMART Domains Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: K457*

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 null
Transcript: ENSMUST00000114284
AA Change: K467*
SMART Domains Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: K467*

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 null
Transcript: ENSMUST00000114285
AA Change: K467*
SMART Domains Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: K467*

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 null
Transcript: ENSMUST00000150139
AA Change: K43*
SMART Domains Protein: ENSMUSP00000117158
Gene: ENSMUSG00000029101
AA Change: K43*

DomainStartEndE-ValueType
Blast:RBD 2 33 5e-13 BLAST
Pfam:RGS12_us2 35 80 5.8e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000156819
AA Change: K213*
SMART Domains Protein: ENSMUSP00000116913
Gene: ENSMUSG00000029101
AA Change: K213*

DomainStartEndE-ValueType
RBD 21 91 3.12e-28 SMART
RBD 93 163 2.44e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201936
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,110,514 (GRCm39) L545P possibly damaging Het
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Ahnak C T 19: 9,014,532 (GRCm39) Q119* probably null Het
Anxa10 C A 8: 62,514,051 (GRCm39) A239S probably benign Het
B020011L13Rik A T 1: 117,729,018 (GRCm39) H175L probably benign Het
Best2 A G 8: 85,734,452 (GRCm39) V422A probably benign Het
Cc2d2b T C 19: 40,759,309 (GRCm39) F298S possibly damaging Het
Cd38 T A 5: 44,063,540 (GRCm39) M211K probably damaging Het
Cd3d T G 9: 44,896,902 (GRCm39) M92R probably damaging Het
Cdk5rap2 C A 4: 70,163,633 (GRCm39) E1474* probably null Het
Clvs1 A G 4: 9,449,433 (GRCm39) K341E probably benign Het
Copg2 G T 6: 30,840,533 (GRCm39) D112E possibly damaging Het
Cspg4b A T 13: 113,456,492 (GRCm39) N846I probably damaging Het
Dmxl1 A T 18: 49,997,902 (GRCm39) N697Y probably damaging Het
Dync1h1 T C 12: 110,624,981 (GRCm39) S3803P possibly damaging Het
Ecpas T A 4: 58,814,065 (GRCm39) D1347V probably damaging Het
Epx T A 11: 87,760,781 (GRCm39) K384* probably null Het
Fam135a G C 1: 24,053,870 (GRCm39) D1222E probably damaging Het
Fndc1 T A 17: 7,991,002 (GRCm39) H898L unknown Het
Gapvd1 A G 2: 34,618,389 (GRCm39) I190T probably damaging Het
Hax1 T G 3: 89,904,759 (GRCm39) S122R probably damaging Het
Hdac9 T G 12: 34,443,362 (GRCm39) M272L probably benign Het
Itgb7 T C 15: 102,131,900 (GRCm39) S228G probably damaging Het
Itpr2 C A 6: 146,298,517 (GRCm39) E315* probably null Het
Kctd8 T C 5: 69,454,045 (GRCm39) N331D probably benign Het
Ky G A 9: 102,419,631 (GRCm39) G546E probably damaging Het
Lao1 T C 4: 118,821,023 (GRCm39) probably null Het
Mtmr12 T A 15: 12,263,918 (GRCm39) W427R probably damaging Het
Mxra8 A G 4: 155,927,593 (GRCm39) K434E possibly damaging Het
Myh4 T C 11: 67,140,711 (GRCm39) C676R possibly damaging Het
Nek7 C T 1: 138,443,420 (GRCm39) G178R probably damaging Het
Or5w17 A T 2: 87,583,831 (GRCm39) C169S probably damaging Het
Or8b50 T C 9: 38,518,307 (GRCm39) L182P probably benign Het
Or8k35 A T 2: 86,424,608 (GRCm39) L188H probably damaging Het
Paqr5 G T 9: 61,883,370 (GRCm39) H41N probably damaging Het
Plekha8 T C 6: 54,606,920 (GRCm39) L405P probably damaging Het
Plpbp A G 8: 27,535,454 (GRCm39) N79S possibly damaging Het
Plxnd1 G T 6: 115,970,724 (GRCm39) A348E probably benign Het
Prdm9 T C 17: 15,764,518 (GRCm39) Q754R probably benign Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Serpina3m T C 12: 104,355,585 (GRCm39) L84P probably damaging Het
Tab2 T C 10: 7,796,177 (GRCm39) T102A possibly damaging Het
Tagln3 G T 16: 45,544,599 (GRCm39) A24E probably benign Het
Tanc2 A G 11: 105,801,114 (GRCm39) E1110G possibly damaging Het
Tcf3 T C 10: 80,252,733 (GRCm39) probably null Het
Tmem14a T C 1: 21,299,769 (GRCm39) probably benign Het
Ttn T A 2: 76,748,275 (GRCm39) E4258V possibly damaging Het
Ubr4 G A 4: 139,213,362 (GRCm39) D5104N possibly damaging Het
Ugt2b37 C G 5: 87,388,705 (GRCm39) A503P probably damaging Het
Unc45b A G 11: 82,804,038 (GRCm39) I72V probably benign Het
Vmn1r88 A T 7: 12,912,258 (GRCm39) M205L possibly damaging Het
Vmn2r109 C T 17: 20,760,932 (GRCm39) M808I probably benign Het
Wdr72 G T 9: 74,062,323 (GRCm39) V490L probably damaging Het
Zfp1004 G T 2: 150,033,982 (GRCm39) C132F probably damaging Het
Zfp998 A T 13: 66,580,161 (GRCm39) H107Q probably benign Het
Zgrf1 T A 3: 127,375,096 (GRCm39) V785E probably damaging Het
Zswim7 A T 11: 62,171,955 (GRCm39) 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
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'- TGTCCCAGAAAATGTACAGACC -3'
(R):5'- AGCCTCAGTCAGCCAGATG -3'

Sequencing Primer
(F):5'- TCTCCCAGCTGTGTCAGG -3'
(R):5'- TGGGCGACAACAGGCAC -3'
Posted On 2018-09-12