Incidental Mutation 'R8241:Rgs12'
ID 637546
Institutional Source Beutler Lab
Gene Symbol Rgs12
Ensembl Gene ENSMUSG00000029101
Gene Name regulator of G-protein signaling 12
Synonyms 4632412M04Rik, 1200016K18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R8241 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 35106789-35196988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35123117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 300 (F300S)
Ref Sequence ENSEMBL: ENSMUSP00000030984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030984] [ENSMUST00000087684]
AlphaFold Q8CGE9
Predicted Effect probably damaging
Transcript: ENSMUST00000030984
AA Change: F300S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: F300S

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: F300S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: F300S

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 98.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,079,456 (GRCm39) R1233G probably null Het
Acacb A T 5: 114,333,297 (GRCm39) I474F possibly damaging Het
Adora1 A T 1: 134,131,062 (GRCm39) V203D probably damaging Het
Aff4 A G 11: 53,290,998 (GRCm39) S653G probably benign Het
Agtr1a T C 13: 30,565,082 (GRCm39) V49A probably damaging Het
Ahnak T C 19: 8,984,659 (GRCm39) V1981A probably benign Het
Arhgap5 T G 12: 52,565,098 (GRCm39) Y690D probably benign Het
Bbs9 A G 9: 22,590,214 (GRCm39) I651V probably benign Het
Brms1 C T 19: 5,096,007 (GRCm39) A27V probably benign Het
Camta1 A G 4: 151,168,282 (GRCm39) V256A probably benign Het
Capg G T 6: 72,533,236 (GRCm39) probably null Het
Chpt1 T C 10: 88,288,953 (GRCm39) K154E Het
Cyp1b1 T C 17: 80,021,223 (GRCm39) E173G probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxw27 T G 9: 109,602,283 (GRCm39) N230T possibly damaging Het
Fer1l4 T C 2: 155,891,585 (GRCm39) T126A probably benign Het
Fut10 C A 8: 31,750,034 (GRCm39) S440* probably null Het
Gbf1 T C 19: 46,234,576 (GRCm39) V71A probably damaging Het
Gpatch8 T C 11: 102,378,347 (GRCm39) E201G unknown Het
Hic2 A G 16: 17,076,950 (GRCm39) Y593C probably damaging Het
Hlcs A T 16: 94,068,677 (GRCm39) V181E probably damaging Het
Itpr2 A T 6: 146,320,013 (GRCm39) I176N possibly damaging Het
Kcna2 G T 3: 107,012,338 (GRCm39) K306N probably damaging Het
Kcnb1 A G 2: 166,948,117 (GRCm39) Y244H probably damaging Het
Klhl8 C T 5: 104,015,392 (GRCm39) V511I probably damaging Het
Mapk14 T A 17: 28,934,374 (GRCm39) D88E possibly damaging Het
Marchf10 C A 11: 105,280,741 (GRCm39) A515S probably benign Het
Mrpl1 T A 5: 96,386,733 (GRCm39) L241I probably damaging Het
Mybpc1 A T 10: 88,372,286 (GRCm39) N781K probably benign Het
Nfkb2 T A 19: 46,296,054 (GRCm39) D186E probably benign Het
Or3a1b G A 11: 74,013,035 (GRCm39) V307I probably benign Het
Plcl1 A G 1: 55,734,976 (GRCm39) I106V probably benign Het
Ppp4r2 A G 6: 100,842,044 (GRCm39) I168M probably damaging Het
Prpf4b A T 13: 35,079,974 (GRCm39) K779N probably damaging Het
Qrich1 T C 9: 108,433,760 (GRCm39) probably null Het
Sart3 T A 5: 113,884,029 (GRCm39) K661M probably benign Het
Scyl2 T C 10: 89,489,971 (GRCm39) I464V possibly damaging Het
Sema5a A G 15: 32,575,064 (GRCm39) T391A probably benign Het
Sh3bgr A G 16: 96,025,070 (GRCm39) T183A unknown Het
Sh3rf3 C T 10: 58,940,242 (GRCm39) P688S probably benign Het
Themis3 T C 17: 66,866,962 (GRCm39) T93A probably benign Het
Thsd7b T A 1: 130,117,688 (GRCm39) S1402T probably damaging Het
Ubr1 A T 2: 120,793,937 (GRCm39) D82E possibly damaging Het
Vmn1r223 T C 13: 23,433,982 (GRCm39) F192S probably benign Het
Vmn2r98 A G 17: 19,301,031 (GRCm39) K678E probably damaging Het
Vps13d G T 4: 144,875,047 (GRCm39) T1826N Het
Vps41 A G 13: 19,033,168 (GRCm39) D633G possibly damaging Het
Wdr3 A T 3: 100,057,259 (GRCm39) I448N 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
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
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'- TTCCACCAGTTCCAACCTGG -3'
(R):5'- TTCCAAACAGCCACTCGTGTC -3'

Sequencing Primer
(F):5'- ACCTGGAGCATGACAGTTTAC -3'
(R):5'- CACTCGTGTCTGGGTCTGCAG -3'
Posted On 2020-07-13