Incidental Mutation 'R1556:Rgs12'
ID 170259
Institutional Source Beutler Lab
Gene Symbol Rgs12
Ensembl Gene ENSMUSG00000029101
Gene Name regulator of G-protein signaling 12
Synonyms 4632412M04Rik, 1200016K18Rik
MMRRC Submission 039595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R1556 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 35106789-35196988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35196626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 769 (R769G)
Ref Sequence ENSEMBL: ENSMUSP00000109924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030985] [ENSMUST00000087684] [ENSMUST00000114283] [ENSMUST00000114285] [ENSMUST00000202573]
AlphaFold Q8CGE9
Predicted Effect probably benign
Transcript: ENSMUST00000030985
SMART Domains Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 43 59 N/A INTRINSIC
low complexity region 85 93 N/A INTRINSIC
FN2 98 145 7.31e-27 SMART
EGF 160 195 2.11e-4 SMART
Pfam:fn1 199 234 7.7e-11 PFAM
EGF 241 276 1.69e-3 SMART
KR 281 366 5.2e-36 SMART
Tryp_SPc 405 639 2.07e-90 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000087684
AA Change: R1417G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: R1417G

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 possibly damaging
Transcript: ENSMUST00000114283
AA Change: R759G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: R759G

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: ENSMUST00000114285
AA Change: R769G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: R769G

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 silent
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 noncoding transcript
Transcript: ENSMUST00000201038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202126
Predicted Effect probably benign
Transcript: ENSMUST00000202573
SMART Domains Protein: ENSMUSP00000144344
Gene: ENSMUSG00000029102

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,203,477 (GRCm39) S302P probably damaging Het
Anapc1 T C 2: 128,466,819 (GRCm39) T1626A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Arid5a T A 1: 36,359,245 (GRCm39) Y520* probably null Het
Aven G A 2: 112,461,230 (GRCm39) M215I probably damaging Het
Cabyr A G 18: 12,877,837 (GRCm39) D58G probably damaging Het
Ccdc146 A G 5: 21,535,551 (GRCm39) Y168H probably damaging Het
Ccnd2 A T 6: 127,107,363 (GRCm39) S269T probably benign Het
Cd68 T A 11: 69,556,676 (GRCm39) T44S probably damaging Het
Clstn2 A T 9: 97,338,558 (GRCm39) I867N probably benign Het
Cmss1 C T 16: 57,136,560 (GRCm39) R104H probably benign Het
Col6a6 A G 9: 105,586,672 (GRCm39) V1783A possibly damaging Het
Dach2 T C X: 112,208,214 (GRCm39) S31P probably benign Het
Dpp8 T A 9: 64,958,761 (GRCm39) W279R probably damaging Het
Fras1 A T 5: 96,890,921 (GRCm39) I2817F possibly damaging Het
Gabrr3 G A 16: 59,281,763 (GRCm39) D373N probably benign Het
Gdf7 T C 12: 8,351,698 (GRCm39) N79S unknown Het
Gpam A G 19: 55,064,763 (GRCm39) V647A possibly damaging Het
Gpatch1 T C 7: 34,994,776 (GRCm39) T497A probably benign Het
Grin2a A T 16: 9,525,579 (GRCm39) F337L probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
H2-Aa A T 17: 34,503,390 (GRCm39) V69D possibly damaging Het
H2-M10.5 T C 17: 37,084,205 (GRCm39) Y56H probably damaging Het
Kcnu1 G A 8: 26,351,219 (GRCm39) probably null Het
Krt77 A G 15: 101,769,713 (GRCm39) S386P probably damaging Het
L3mbtl2 T A 15: 81,566,203 (GRCm39) M342K probably benign Het
Ldlrad1 A G 4: 107,075,010 (GRCm39) T186A probably benign Het
Lins1 C A 7: 66,360,385 (GRCm39) C168* probably null Het
Lrrtm3 G A 10: 63,923,928 (GRCm39) T413M probably damaging Het
Macf1 T C 4: 123,348,813 (GRCm39) D4038G probably damaging Het
Mark3 T G 12: 111,594,275 (GRCm39) N308K probably damaging Het
Mdga2 T A 12: 66,597,367 (GRCm39) Y709F possibly damaging Het
Mtus2 T A 5: 148,014,198 (GRCm39) S330R probably benign Het
Or1p1 T A 11: 74,179,762 (GRCm39) C97S probably damaging Het
Or4k15c G A 14: 50,321,916 (GRCm39) A74V possibly damaging Het
Or51a24 T A 7: 103,733,468 (GRCm39) H273L probably benign Het
Or6c76 T C 10: 129,612,242 (GRCm39) V168A probably benign Het
Ovgp1 A G 3: 105,894,068 (GRCm39) probably benign Het
P4ha2 A G 11: 54,015,836 (GRCm39) T408A probably damaging Het
Pcdh8 T G 14: 80,007,843 (GRCm39) D240A probably damaging Het
Pcyt2 T C 11: 120,502,911 (GRCm39) probably null Het
Pecr T A 1: 72,298,542 (GRCm39) I293L probably benign Het
Pogk A G 1: 166,226,402 (GRCm39) V583A possibly damaging Het
Prkg1 T C 19: 30,602,143 (GRCm39) K371R probably benign Het
Psmd2 T A 16: 20,474,335 (GRCm39) M297K possibly damaging Het
Sgtb T A 13: 104,276,284 (GRCm39) N237K probably damaging Het
Sh3bgrl2 T C 9: 83,476,751 (GRCm39) V91A probably damaging Het
Slc4a1ap G A 5: 31,691,554 (GRCm39) probably null Het
Slc4a7 T C 14: 14,778,872 (GRCm38) V940A probably benign Het
Tep1 T C 14: 51,090,499 (GRCm39) T740A probably benign Het
Tnk2 G T 16: 32,489,737 (GRCm39) probably null Het
Trpv2 A G 11: 62,483,059 (GRCm39) Y450C probably damaging Het
Tut7 T C 13: 59,948,054 (GRCm39) T354A probably benign Het
Tvp23a A T 16: 10,264,862 (GRCm39) D16E probably damaging Het
Twnk T C 19: 44,997,850 (GRCm39) F460L possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Urb2 T C 8: 124,757,356 (GRCm39) L1021P probably damaging Het
Vps13c T C 9: 67,837,993 (GRCm39) Y1848H probably damaging Het
Vwa8 T G 14: 79,324,121 (GRCm39) N1141K probably benign Het
Yipf3 A G 17: 46,561,793 (GRCm39) Y200C probably damaging Het
Zbtb38 A G 9: 96,569,044 (GRCm39) V680A probably benign Het
Znrf3 T C 11: 5,231,347 (GRCm39) E722G probably benign Het
Zzef1 T A 11: 72,806,059 (GRCm39) L2665H 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
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
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'- CAAGCAGGTGACAGCTTCTCTTCTC -3'
(R):5'- ACAATGCAGTACATGGCAGGTCTTC -3'

Sequencing Primer
(F):5'- TCTCTTCTCCCCATGACAGG -3'
(R):5'- CTGCTATAGAGGTGTCTAACCCAG -3'
Posted On 2014-04-13