Incidental Mutation 'R0269:Rgs7'
ID 35122
Institutional Source Beutler Lab
Gene Symbol Rgs7
Ensembl Gene ENSMUSG00000026527
Gene Name regulator of G protein signaling 7
Synonyms
MMRRC Submission 038495-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.672) question?
Stock # R0269 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 174886653-175320066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 175098386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 58 (S58P)
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: S58P

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527
AA Change: S58P

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: S58P

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527
AA Change: S58P

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: S58P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527
AA Change: S58P

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: S58P

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527
AA Change: S58P

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
Meta Mutation Damage Score 0.0731 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.1%
  • 20x: 93.6%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,838,201 (GRCm39) V231I possibly damaging Het
Abca1 T C 4: 53,044,228 (GRCm39) D1798G probably benign Het
Adcy2 T A 13: 68,826,725 (GRCm39) K660* probably null Het
Alk G T 17: 72,910,578 (GRCm39) P43T probably damaging Het
Amhr2 T C 15: 102,355,503 (GRCm39) C189R probably benign Het
Arrb1 T C 7: 99,243,884 (GRCm39) L278P probably damaging Het
AW551984 T C 9: 39,511,246 (GRCm39) Y153C probably damaging Het
Bpifb1 A G 2: 154,054,867 (GRCm39) D253G possibly damaging Het
Bpifb9b C T 2: 154,161,545 (GRCm39) T559M probably benign Het
Cd46 T G 1: 194,746,996 (GRCm39) I339L probably benign Het
Cdkn2aip A G 8: 48,165,012 (GRCm39) S234P probably damaging Het
Chil3 T C 3: 106,063,072 (GRCm39) K173E probably benign Het
Csf2rb2 G T 15: 78,173,065 (GRCm39) T265N probably benign Het
Cyp2c40 A G 19: 39,762,340 (GRCm39) F436L probably damaging Het
D130040H23Rik T C 8: 69,753,446 (GRCm39) F24S probably benign Het
Defb12 G T 8: 19,164,375 (GRCm39) A34E probably damaging Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fbxl17 A C 17: 63,691,987 (GRCm39) F42V probably damaging Het
Gldc T A 19: 30,096,002 (GRCm39) I670F probably damaging Het
Guf1 A C 5: 69,716,942 (GRCm39) Q168P probably damaging Het
Hcn2 A G 10: 79,570,075 (GRCm39) probably benign Het
Hddc2 A G 10: 31,203,942 (GRCm39) M190V probably benign Het
Kcnq2 T C 2: 180,738,767 (GRCm39) E294G probably benign Het
Kdelr1 T A 7: 45,523,463 (GRCm39) probably benign Het
Kidins220 T A 12: 25,090,511 (GRCm39) H1158Q probably damaging Het
Laptm5 A T 4: 130,658,127 (GRCm39) N185Y probably benign Het
Mgat4a A G 1: 37,529,388 (GRCm39) Y164H possibly damaging Het
Mlh3 C A 12: 85,315,179 (GRCm39) V336L probably benign Het
Myadm A G 7: 3,345,273 (GRCm39) T12A unknown Het
Nol8 T C 13: 49,807,921 (GRCm39) F46L possibly damaging Het
Ntrk1 T C 3: 87,691,240 (GRCm39) D308G possibly damaging Het
Oog3 A T 4: 143,886,784 (GRCm39) V112D probably benign Het
Or4a66 A G 2: 88,531,040 (GRCm39) V211A probably damaging Het
Or5af2 T C 11: 58,707,975 (GRCm39) V47A probably damaging Het
Or5m9b A G 2: 85,905,485 (GRCm39) M134V probably benign Het
Or8g34 T C 9: 39,373,090 (GRCm39) M118T probably damaging Het
Or9s18 A T 13: 65,300,692 (GRCm39) Y218F possibly damaging Het
Pramel14 A G 4: 143,720,088 (GRCm39) probably benign Het
Prss39 A T 1: 34,539,279 (GRCm39) H173L probably damaging Het
Rabl6 A G 2: 25,476,878 (GRCm39) probably null Het
Recql5 T C 11: 115,819,050 (GRCm39) D172G possibly damaging Het
Reln T C 5: 22,125,535 (GRCm39) D2716G probably damaging Het
Sema6d T A 2: 124,502,665 (GRCm39) F583L possibly damaging Het
Sgsm1 T C 5: 113,434,795 (GRCm39) probably null Het
Slc22a19 A T 19: 7,686,986 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,936,332 (GRCm39) Y428* probably null Het
Smarca4 T G 9: 21,547,497 (GRCm39) M260R probably benign Het
Smg6 C A 11: 75,053,757 (GRCm39) T1413K probably benign Het
Spata17 T C 1: 186,830,069 (GRCm39) I322V probably benign Het
Stxbp1 A C 2: 32,692,795 (GRCm39) I407S probably damaging Het
Sult1d1 A T 5: 87,712,661 (GRCm39) I61N probably damaging Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tm4sf5 T A 11: 70,401,495 (GRCm39) S165T probably damaging Het
Tmx2 T C 2: 84,502,740 (GRCm39) D256G probably benign Het
Trmt11 T A 10: 30,463,485 (GRCm39) H210L probably benign Het
Tut7 A T 13: 59,964,669 (GRCm39) probably null Het
Ush2a T A 1: 188,542,373 (GRCm39) M3313K probably benign Het
Zfp955b A T 17: 33,524,437 (GRCm39) S43R 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
IGL03169:Rgs7 APN 1 175,098,401 (GRCm39) missense possibly damaging 0.75
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
Predicted Primers PCR Primer
(F):5'- CAGGTGATGTGACCCAGTTCTTGC -3'
(R):5'- GCCAACAGTGCTTTCTGACCAAAC -3'

Sequencing Primer
(F):5'- GCCAATTCAGAGTAATCTGTGC -3'
(R):5'- CTTTGTAAGCAGAGGAGTGTGTAAC -3'
Posted On 2013-05-09