Incidental Mutation 'IGL03169:Rgs7'
ID 411751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs7
Ensembl Gene ENSMUSG00000026527
Gene Name regulator of G protein signaling 7
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.672) question?
Stock # IGL03169
Quality Score
Status
Chromosome 1
Chromosomal Location 174886653-175320066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 175098401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 53 (I53V)
Ref Sequence ENSEMBL: ENSMUSP00000141380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027812] [ENSMUST00000192227] [ENSMUST00000194555] [ENSMUST00000195324]
AlphaFold O54829
Predicted Effect possibly damaging
Transcript: ENSMUST00000027812
AA Change: I53V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527
AA Change: I53V

DomainStartEndE-ValueType
DEP 37 112 1.69e-26 SMART
G_gamma 252 316 4.56e-20 SMART
GGL 255 316 2.75e-27 SMART
RGS 333 448 9.08e-49 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192227
AA Change: I53V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527
AA Change: I53V

DomainStartEndE-ValueType
DEP 37 112 1.69e-26 SMART
G_gamma 252 316 4.56e-20 SMART
GGL 255 316 2.75e-27 SMART
RGS 333 448 9.08e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194555
AA Change: I53V

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527
AA Change: I53V

DomainStartEndE-ValueType
DEP 37 112 1.69e-26 SMART
G_gamma 252 316 4.56e-20 SMART
GGL 255 316 2.75e-27 SMART
RGS 333 448 9.08e-49 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195324
AA Change: I53V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527
AA Change: I53V

DomainStartEndE-ValueType
DEP 37 112 7.7e-29 SMART
G_gamma 252 316 2.1e-24 SMART
GGL 255 316 1.8e-29 SMART
RGS 333 448 3.4e-51 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit reduced exploration in a new environment, impaired glucose tolerance in males, and abnormal rod b-wave electrophysiology. Mice homozygous for a knock-out allele exhibit runting, delayed eye opening, and transient prolonged b-wave implicit time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 84,658,624 (GRCm39) I548F probably damaging Het
Adgrv1 T A 13: 81,652,019 (GRCm39) Q2995L probably damaging Het
Capn9 T C 8: 125,332,616 (GRCm39) I485T probably damaging Het
Ccdc17 T A 4: 116,454,957 (GRCm39) I197N probably damaging Het
Chl1 T A 6: 103,642,928 (GRCm39) L222Q probably damaging Het
Ctla4 T C 1: 60,953,764 (GRCm39) probably benign Het
Cyp2d12 T C 15: 82,443,492 (GRCm39) S485P probably benign Het
Ddx50 A T 10: 62,457,166 (GRCm39) probably null Het
Dlgap4 C A 2: 156,552,938 (GRCm39) probably null Het
Dpysl4 G A 7: 138,679,826 (GRCm39) probably null Het
Erbin T C 13: 103,977,740 (GRCm39) M606V possibly damaging Het
Fat4 T G 3: 39,011,547 (GRCm39) S2216A probably benign Het
Frem2 T C 3: 53,429,713 (GRCm39) N2779S probably benign Het
Fut1 T C 7: 45,268,457 (GRCm39) V82A probably benign Het
Gnb1l C T 16: 18,359,205 (GRCm39) A2V probably damaging Het
Hdac1 C T 4: 129,412,624 (GRCm39) E327K probably null Het
Hdlbp A G 1: 93,344,309 (GRCm39) V819A possibly damaging Het
Ift122 T C 6: 115,882,922 (GRCm39) probably benign Het
Iqgap2 T C 13: 95,867,785 (GRCm39) probably null Het
Kntc1 T C 5: 123,913,884 (GRCm39) V613A possibly damaging Het
Lamb1 T C 12: 31,373,645 (GRCm39) V1458A probably damaging Het
Lef1 A G 3: 130,988,312 (GRCm39) K265R probably damaging Het
Lrp2 T C 2: 69,353,538 (GRCm39) D574G probably damaging Het
Mterf2 C T 10: 84,956,324 (GRCm39) R100H probably benign Het
Nr1d2 C T 14: 18,216,703 (GRCm38) R155Q probably damaging Het
Obscn T C 11: 58,964,122 (GRCm39) T3304A probably damaging Het
Or2j3 G T 17: 38,615,992 (GRCm39) S120Y probably damaging Het
Or4a78 A G 2: 89,497,831 (GRCm39) I133T possibly damaging Het
Os9 G A 10: 126,934,463 (GRCm39) T391M probably benign Het
Parp6 C A 9: 59,557,300 (GRCm39) Y131* probably null Het
Plxdc1 T C 11: 97,823,146 (GRCm39) E358G possibly damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Ptprc A T 1: 138,041,357 (GRCm39) S167R probably benign Het
Rad54l2 T C 9: 106,596,263 (GRCm39) D225G probably benign Het
Rpa1 T C 11: 75,192,183 (GRCm39) D607G probably damaging Het
Shisa5 T A 9: 108,885,560 (GRCm39) H213Q probably damaging Het
Syncrip A G 9: 88,338,496 (GRCm39) probably benign Het
Taf4b T G 18: 14,954,592 (GRCm39) V556G probably damaging Het
Tgif1 A C 17: 71,151,836 (GRCm39) S258R possibly damaging Het
Tmem106a T C 11: 101,481,284 (GRCm39) probably benign Het
Vmn1r113 A T 7: 20,522,012 (GRCm39) H268L probably benign Het
Vmn1r40 A T 6: 89,692,005 (GRCm39) Q274L probably damaging Het
Wdr70 A C 15: 7,913,821 (GRCm39) I609M possibly damaging Het
Wdr91 G A 6: 34,882,426 (GRCm39) S241L possibly damaging Het
Zfyve9 T C 4: 108,553,022 (GRCm39) Y713C probably damaging Het
Other mutations in Rgs7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Rgs7 APN 1 174,913,746 (GRCm39) missense probably benign 0.04
IGL02334:Rgs7 APN 1 175,016,788 (GRCm39) missense probably damaging 0.96
IGL02805:Rgs7 APN 1 174,977,262 (GRCm39) missense probably damaging 1.00
R0269:Rgs7 UTSW 1 175,098,386 (GRCm39) missense possibly damaging 0.81
R1161:Rgs7 UTSW 1 174,907,021 (GRCm39) missense probably damaging 1.00
R1658:Rgs7 UTSW 1 174,907,120 (GRCm39) missense probably benign 0.02
R1840:Rgs7 UTSW 1 174,980,714 (GRCm39) missense probably damaging 0.99
R1944:Rgs7 UTSW 1 174,980,769 (GRCm39) missense possibly damaging 0.88
R2064:Rgs7 UTSW 1 174,949,508 (GRCm39) missense probably damaging 0.98
R2114:Rgs7 UTSW 1 174,918,639 (GRCm39) missense probably damaging 1.00
R2116:Rgs7 UTSW 1 174,918,639 (GRCm39) missense probably damaging 1.00
R3803:Rgs7 UTSW 1 175,016,785 (GRCm39) missense probably benign 0.39
R5106:Rgs7 UTSW 1 174,904,416 (GRCm39) missense possibly damaging 0.87
R6042:Rgs7 UTSW 1 174,977,226 (GRCm39) missense probably damaging 0.99
R7652:Rgs7 UTSW 1 174,921,396 (GRCm39) missense probably benign
R7689:Rgs7 UTSW 1 174,949,296 (GRCm39) missense probably benign 0.33
R7814:Rgs7 UTSW 1 174,903,635 (GRCm39) missense probably benign
R7884:Rgs7 UTSW 1 174,977,216 (GRCm39) critical splice donor site probably null
R8884:Rgs7 UTSW 1 174,980,730 (GRCm39) missense probably benign 0.06
Z1088:Rgs7 UTSW 1 174,911,586 (GRCm39) missense possibly damaging 0.92
Posted On 2016-08-02