Incidental Mutation 'R1161:Rgs7'
ID100383
Institutional Source Beutler Lab
Gene Symbol Rgs7
Ensembl Gene ENSMUSG00000026527
Gene Nameregulator of G protein signaling 7
Synonyms
MMRRC Submission 039234-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.583) question?
Stock #R1161 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location175059087-175492500 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 175079455 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 90 (T90A)
Ref Sequence ENSEMBL: ENSMUSP00000141855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027812] [ENSMUST00000192203] [ENSMUST00000192227] [ENSMUST00000194288] [ENSMUST00000194555] [ENSMUST00000195324] [ENSMUST00000195477]
Predicted Effect probably damaging
Transcript: ENSMUST00000027812
AA Change: T407A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527
AA Change: T407A

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: ENSMUST00000192203
SMART Domains Protein: ENSMUSP00000141284
Gene: ENSMUSG00000026527

DomainStartEndE-ValueType
Pfam:RGS 1 31 2.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192227
AA Change: T407A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527
AA Change: T407A

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 noncoding transcript
Transcript: ENSMUST00000193798
Predicted Effect probably damaging
Transcript: ENSMUST00000194288
AA Change: T90A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141855
Gene: ENSMUSG00000026527
AA Change: T90A

DomainStartEndE-ValueType
RGS 16 131 9.08e-49 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194555
AA Change: T407A

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527
AA Change: T407A

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 damaging
Transcript: ENSMUST00000195324
AA Change: T407A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527
AA Change: T407A

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
Predicted Effect probably damaging
Transcript: ENSMUST00000195477
AA Change: T110A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142181
Gene: ENSMUSG00000026527
AA Change: T110A

DomainStartEndE-ValueType
RGS 36 151 9.08e-49 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.7%
  • 20x: 89.6%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl10 T G 3: 145,930,425 V26G probably damaging Het
C4b A G 17: 34,729,593 V1581A probably damaging Het
Camk1g T C 1: 193,348,354 D349G probably benign Het
Ccdc106 G A 7: 5,059,540 D11N possibly damaging Het
Ckap5 T G 2: 91,599,375 L1464R probably null Het
Def6 G A 17: 28,217,619 V86I probably benign Het
Dnm3 T A 1: 162,353,574 T179S probably benign Het
Dync1h1 G A 12: 110,636,509 E2195K probably benign Het
Eme1 G A 11: 94,645,542 R534C probably damaging Het
Fam160a1 A G 3: 85,672,468 I810T probably damaging Het
Fzd3 G A 14: 65,212,088 R514C probably damaging Het
H2-T24 G T 17: 36,014,996 Y234* probably null Het
Ifit1bl1 A G 19: 34,593,696 S454P possibly damaging Het
Ipcef1 T A 10: 6,980,288 probably null Het
Mmel1 C T 4: 154,895,214 R764C probably damaging Het
Olfr857 A G 9: 19,713,180 M118V probably damaging Het
Pde4c A G 8: 70,749,923 D592G possibly damaging Het
Prx T C 7: 27,519,677 F1340S probably damaging Het
Scn11a C T 9: 119,755,057 W1497* probably null Het
Snrnp40 C G 4: 130,378,043 probably null Het
Srrm3 CAAGAAGAAGAAGAA CAAGAAGAAGAA 5: 135,854,392 probably benign Het
Svep1 T A 4: 58,069,416 Y2790F possibly damaging Het
Tmeff2 T C 1: 51,181,787 V307A probably damaging Het
Tmem38a T A 8: 72,579,970 F98I probably damaging Het
Trp73 A G 4: 154,081,323 probably null Het
Usp29 A G 7: 6,961,530 E124G probably damaging Het
Other mutations in Rgs7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Rgs7 APN 1 175086180 missense probably benign 0.04
IGL02334:Rgs7 APN 1 175189222 missense probably damaging 0.96
IGL02805:Rgs7 APN 1 175149696 missense probably damaging 1.00
IGL03169:Rgs7 APN 1 175270835 missense possibly damaging 0.75
R0269:Rgs7 UTSW 1 175270820 missense possibly damaging 0.81
R1658:Rgs7 UTSW 1 175079554 missense probably benign 0.02
R1840:Rgs7 UTSW 1 175153148 missense probably damaging 0.99
R1944:Rgs7 UTSW 1 175153203 missense possibly damaging 0.88
R2064:Rgs7 UTSW 1 175121942 missense probably damaging 0.98
R2114:Rgs7 UTSW 1 175091073 missense probably damaging 1.00
R2116:Rgs7 UTSW 1 175091073 missense probably damaging 1.00
R3803:Rgs7 UTSW 1 175189219 missense probably benign 0.39
R5106:Rgs7 UTSW 1 175076850 missense possibly damaging 0.87
R6042:Rgs7 UTSW 1 175149660 missense probably damaging 0.99
R7652:Rgs7 UTSW 1 175093830 missense probably benign
R7689:Rgs7 UTSW 1 175121730 missense probably benign 0.33
R7814:Rgs7 UTSW 1 175076069 missense probably benign
R7884:Rgs7 UTSW 1 175149650 critical splice donor site probably null
Z1088:Rgs7 UTSW 1 175084020 missense possibly damaging 0.92
Predicted Primers
Posted On2014-01-15