Incidental Mutation 'IGL02805:Rgs7'
ID360375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs7
Ensembl Gene ENSMUSG00000026527
Gene Nameregulator of G protein signaling 7
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.520) question?
Stock #IGL02805
Quality Score
Status
Chromosome1
Chromosomal Location175059087-175492500 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 175149696 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 114 (Y114C)
Ref Sequence ENSEMBL: ENSMUSP00000141380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027812] [ENSMUST00000192227] [ENSMUST00000194555] [ENSMUST00000195324]
Predicted Effect probably damaging
Transcript: ENSMUST00000027812
AA Change: Y114C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527
AA Change: Y114C

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: ENSMUST00000192227
AA Change: Y114C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527
AA Change: Y114C

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: ENSMUST00000194555
AA Change: Y114C

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527
AA Change: Y114C

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: Y114C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527
AA Change: Y114C

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign 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
IGL03169:Rgs7 APN 1 175270835 missense possibly damaging 0.75
R0269:Rgs7 UTSW 1 175270820 missense possibly damaging 0.81
R1161:Rgs7 UTSW 1 175079455 missense probably damaging 1.00
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
R8884:Rgs7 UTSW 1 175153164 missense probably benign 0.06
Z1088:Rgs7 UTSW 1 175084020 missense possibly damaging 0.92
Posted On2015-12-18