Incidental Mutation 'R4617:Rgs12'
ID 351106
Institutional Source Beutler Lab
Gene Symbol Rgs12
Ensembl Gene ENSMUSG00000029101
Gene Name regulator of G-protein signaling 12
Synonyms 4632412M04Rik, 1200016K18Rik
MMRRC Submission 041828-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R4617 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 35106789-35196988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35177700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 97 (W97R)
Ref Sequence ENSEMBL: ENSMUSP00000109924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030984] [ENSMUST00000087684] [ENSMUST00000114280] [ENSMUST00000114281] [ENSMUST00000114283] [ENSMUST00000114284] [ENSMUST00000114285] [ENSMUST00000156339] [ENSMUST00000225237]
AlphaFold Q8CGE9
Predicted Effect probably damaging
Transcript: ENSMUST00000030984
AA Change: W745R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: W745R

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: W745R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: W745R

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: W87R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101
AA Change: W87R

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: W87R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: W87R

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: W87R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: W87R

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: W97R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: W97R

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: W97R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: W97R

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: ENSMUST00000153972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128161
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 probably benign
Transcript: ENSMUST00000225237
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: ENSMUST00000201936
Meta Mutation Damage Score 0.9669 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 96% (66/69)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Acaa1a T A 9: 119,178,006 (GRCm39) S279R probably damaging Het
Akr1cl A G 1: 65,060,550 (GRCm39) C156R probably damaging Het
Arhgap11a G A 2: 113,664,423 (GRCm39) T620M probably benign Het
Brinp1 A G 4: 68,681,198 (GRCm39) I444T possibly damaging Het
Ccdc150 A G 1: 54,394,913 (GRCm39) I760V probably benign Het
Cdh26 G A 2: 178,102,435 (GRCm39) probably benign Het
Cpd A G 11: 76,731,441 (GRCm39) L255P probably damaging Het
Cyfip2 A G 11: 46,144,845 (GRCm39) Y670H probably damaging Het
Disp2 G A 2: 118,620,643 (GRCm39) M458I probably benign Het
Dot1l T C 10: 80,620,918 (GRCm39) I563T probably damaging Het
Egf A T 3: 129,484,442 (GRCm39) S1001T probably benign Het
Elfn1 A G 5: 139,957,764 (GRCm39) Y256C probably damaging Het
Exoc4 C T 6: 33,839,139 (GRCm39) T725I probably benign Het
Fam168b A G 1: 34,859,063 (GRCm39) V72A possibly damaging Het
Fbxw20 C T 9: 109,046,631 (GRCm39) S443N probably damaging Het
Flacc1 A T 1: 58,700,601 (GRCm39) D301E probably benign Het
Flrt2 T C 12: 95,747,003 (GRCm39) V447A possibly damaging Het
Gm4846 A G 1: 166,323,550 (GRCm39) S58P probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Lpcat2b T C 5: 107,581,865 (GRCm39) L398P possibly damaging Het
Mapk8ip3 G A 17: 25,123,761 (GRCm39) P587L probably damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrpl38 T C 11: 116,023,278 (GRCm39) D325G probably damaging Het
Mtmr12 A G 15: 12,270,132 (GRCm39) E430G probably damaging Het
Mup18 T A 4: 61,590,154 (GRCm39) I125F possibly damaging Het
Ogdhl A G 14: 32,047,842 (GRCm39) R31G probably benign Het
Or13f5 A T 4: 52,825,399 (GRCm39) M1L probably benign Het
Pcdh1 C A 18: 38,330,913 (GRCm39) V697L probably benign Het
Pcdhga9 T C 18: 37,871,553 (GRCm39) Y461H probably damaging Het
Pdzrn4 A G 15: 92,667,723 (GRCm39) Y625C probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Poglut2 A C 1: 44,149,180 (GRCm39) F453V probably damaging Het
Ptprn T A 1: 75,228,931 (GRCm39) D828V possibly damaging Het
Rnf10 T A 5: 115,386,762 (GRCm39) Q508L probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec24b A T 3: 129,834,413 (GRCm39) S126T possibly damaging Het
Slc6a5 A G 7: 49,561,768 (GRCm39) N100S probably benign Het
Speer1j T C 5: 11,553,798 (GRCm39) S7P probably benign Het
Stam2 A T 2: 52,605,716 (GRCm39) D167E probably benign Het
Stambp G A 6: 83,538,960 (GRCm39) Q147* probably null Het
Tbc1d32 A G 10: 56,047,000 (GRCm39) V556A possibly damaging Het
Tll2 T C 19: 41,087,075 (GRCm39) D592G probably benign Het
Tmem199 A T 11: 78,400,508 (GRCm39) probably benign Het
Traip T A 9: 107,847,218 (GRCm39) N352K probably benign Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Usp54 C A 14: 20,600,406 (GRCm39) A1444S probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Xdh G A 17: 74,225,389 (GRCm39) T471I probably damaging Het
Zdhhc19 A G 16: 32,316,494 (GRCm39) D83G probably damaging Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R probably benign Het
Zfp451 A G 1: 33,841,752 (GRCm39) probably benign Het
Zfp963 A T 8: 70,195,944 (GRCm39) S170T probably benign Het
Zfp970 A G 2: 177,167,961 (GRCm39) I512V probably benign Het
Zfp990 A G 4: 145,263,616 (GRCm39) I205V possibly 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
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
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'- CCCTTGAGAAAAGAGCTGTGAG -3'
(R):5'- TGAAGCAGAAATGTCACCGTTC -3'

Sequencing Primer
(F):5'- CCACTCACGTGTGCTGC -3'
(R):5'- CTTTAAAGTCAGTAAGAAGCATCCC -3'
Posted On 2015-10-08