Incidental Mutation 'R8049:Rgs12'
ID 618924
Institutional Source Beutler Lab
Gene Symbol Rgs12
Ensembl Gene ENSMUSG00000029101
Gene Name regulator of G-protein signaling 12
Synonyms 4632412M04Rik, 1200016K18Rik
MMRRC Submission 067486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R8049 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35106789-35196988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35183374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1007 (V1007E)
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 possibly damaging
Transcript: ENSMUST00000030984
AA Change: V1007E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: V1007E

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: V1007E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: V1007E

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 damaging
Transcript: ENSMUST00000114280
AA Change: V349E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101
AA Change: V349E

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: V349E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: V349E

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: V349E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: V349E

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 damaging
Transcript: ENSMUST00000114284
AA Change: V359E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: V359E

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: V359E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: V359E

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: V65E

DomainStartEndE-ValueType
RBD 21 91 3.12e-28 SMART
RBD 93 163 2.44e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201936
AA Change: W120R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (55/55)
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
2310034C09Rik A T 16: 88,555,992 (GRCm39) T69S probably benign Het
5730455P16Rik A G 11: 80,268,798 (GRCm39) S4P possibly damaging Het
Abca13 T A 11: 9,241,867 (GRCm39) N1243K probably damaging Het
Adgrg6 A T 10: 14,303,943 (GRCm39) S824T probably benign Het
Armh4 G T 14: 50,010,993 (GRCm39) A238E probably damaging Het
C3ar1 T A 6: 122,827,059 (GRCm39) Y386F probably damaging Het
Cdc14a T C 3: 116,087,577 (GRCm39) N527S probably benign Het
Cfap69 A T 5: 5,669,085 (GRCm39) probably benign Het
Col7a1 C T 9: 108,804,631 (GRCm39) P2279S unknown Het
Crb2 G A 2: 37,683,252 (GRCm39) G918D probably benign Het
Dcn C A 10: 97,349,479 (GRCm39) N250K probably damaging Het
Dctn5 G A 7: 121,732,466 (GRCm39) probably benign Het
Ddx55 T C 5: 124,694,821 (GRCm39) V83A probably damaging Het
Dnaja2 T A 8: 86,265,876 (GRCm39) H403L possibly damaging Het
Dpy19l4 T C 4: 11,303,982 (GRCm39) I143V probably benign Het
Efna5 G T 17: 62,957,977 (GRCm39) T93K probably benign Het
Eml6 A G 11: 29,843,201 (GRCm39) V171A possibly damaging Het
Esyt1 C G 10: 128,347,955 (GRCm39) V942L probably benign Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam78a C A 2: 31,973,035 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,892 (GRCm39) Y61H probably benign Het
Fbxw14 A T 9: 109,105,211 (GRCm39) M318K probably damaging Het
Gm14295 A G 2: 176,500,871 (GRCm39) I120M probably benign Het
Gm14403 T A 2: 177,200,311 (GRCm39) Y86N probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr55 T C 1: 85,869,419 (GRCm39) D54G probably benign Het
Gtf2b T G 3: 142,483,975 (GRCm39) S50A probably damaging Het
Ifit3 A T 19: 34,565,480 (GRCm39) E342V possibly damaging Het
Iqgap3 T A 3: 88,011,609 (GRCm39) I798N probably damaging Het
Kplce A T 3: 92,776,202 (GRCm39) Y160* probably null Het
Lpin1 T C 12: 16,613,685 (GRCm39) D494G Het
Lsm12 T C 11: 102,056,235 (GRCm39) E149G possibly damaging Het
Mtfr2 T C 10: 20,228,603 (GRCm39) S50P possibly damaging Het
Ndnf T C 6: 65,680,414 (GRCm39) M231T probably benign Het
Noc3l A T 19: 38,800,873 (GRCm39) V203E probably benign Het
Or1e27-ps1 G T 11: 73,555,988 (GRCm39) K184N possibly damaging Het
Or52h2 C A 7: 103,839,017 (GRCm39) L132F probably damaging Het
Or5c1 A T 2: 37,222,346 (GRCm39) T196S probably damaging Het
Or9r7 A T 10: 129,962,469 (GRCm39) Y152* probably null Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pde6b C T 5: 108,573,118 (GRCm39) P496L probably benign Het
Plppr1 A T 4: 49,300,942 (GRCm39) M92L probably benign Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Ptprk C G 10: 28,259,565 (GRCm39) S335C possibly damaging Het
Rars2 T A 4: 34,650,217 (GRCm39) M334K probably benign Het
Rasl10a A T 11: 5,009,823 (GRCm39) I124F probably damaging Het
Rnf122 T A 8: 31,618,608 (GRCm39) C119S probably damaging Het
Scn11a T A 9: 119,584,149 (GRCm39) I1489F probably damaging Het
Setd6 C A 8: 96,443,316 (GRCm39) S186R probably benign Het
Tex19.1 A G 11: 121,038,148 (GRCm39) T169A probably benign Het
Th G A 7: 142,447,860 (GRCm39) P408S probably damaging Het
Trappc13 T C 13: 104,281,052 (GRCm39) M337V probably benign Het
Treml2 A T 17: 48,609,762 (GRCm39) K65* probably null Het
Ubxn4 T C 1: 128,183,933 (GRCm39) S98P probably damaging Het
Wrnip1 A G 13: 33,005,960 (GRCm39) S601G probably benign Het
Zfp1006 A T 8: 129,946,555 (GRCm39) L90H probably damaging 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
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
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'- TACAGTCAGAGGCCTGTAGGAC -3'
(R):5'- GGGCAAAATTAGCCTGACACC -3'

Sequencing Primer
(F):5'- TGTAGGACCTCAGCACTCGAG -3'
(R):5'- TGACACCCTCTAGACACTGGG -3'
Posted On 2020-01-23