Incidental Mutation 'R6042:Rgs7'
ID483594
Institutional Source Beutler Lab
Gene Symbol Rgs7
Ensembl Gene ENSMUSG00000026527
Gene Nameregulator of G protein signaling 7
Synonyms
MMRRC Submission 044210-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.388) question?
Stock #R6042 (G1)
Quality Score225.009
Status Not validated
Chromosome1
Chromosomal Location175059087-175492500 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 175149660 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 126 (T126K)
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: T126K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527
AA Change: T126K

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: T126K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527
AA Change: T126K

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: T126K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527
AA Change: T126K

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: T126K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527
AA Change: T126K

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,177,249 K478M probably benign Het
Ankar G T 1: 72,674,054 S474* probably null Het
Barx2 C A 9: 31,846,903 E246D probably benign Het
Cdh7 A T 1: 110,138,267 Q757L probably damaging Het
Cnr1 T C 4: 33,944,751 F380L probably damaging Het
Cntnap5b G A 1: 100,390,592 A655T probably benign Het
Col2a1 T A 15: 98,000,570 probably benign Het
Crybg3 C T 16: 59,550,475 R2340Q possibly damaging Het
Ctsb G T 14: 63,141,856 D306Y probably damaging Het
Cyp2a22 A C 7: 26,934,239 Y349D probably damaging Het
Dcpp2 T C 17: 23,898,912 L22S probably damaging Het
Dnah8 G T 17: 30,747,265 M2476I probably damaging Het
Dst A G 1: 34,188,972 E1882G probably damaging Het
Esrp1 T C 4: 11,357,580 K511E possibly damaging Het
Fat3 T A 9: 16,377,817 T137S probably benign Het
Fbxw24 T A 9: 109,607,011 M318L probably benign Het
Fpr-rs7 T A 17: 20,113,215 T338S probably benign Het
Gcgr T C 11: 120,534,758 M1T probably null Het
Gm13101 G T 4: 143,966,061 D123E probably benign Het
Grifin C A 5: 140,563,556 R135L possibly damaging Het
Helz T C 11: 107,614,120 probably null Het
Hivep3 C G 4: 120,097,864 Q1126E possibly damaging Het
Htr3a T A 9: 48,904,699 H146L probably damaging Het
Lama3 T A 18: 12,574,254 V3081E probably damaging Het
Mgat5 T A 1: 127,459,899 C531S probably damaging Het
Micalcl A G 7: 112,380,412 D106G probably benign Het
Nectin2 C T 7: 19,738,138 A109T probably benign Het
Olfr1431 A T 19: 12,209,922 M119L probably damaging Het
Olfr887 T A 9: 38,085,094 V86E probably damaging Het
Olig3 T C 10: 19,356,755 S43P probably damaging Het
Pcdh12 T C 18: 38,281,505 R856G probably damaging Het
Phpt1 T A 2: 25,574,839 M1L probably benign Het
Polr2m T C 9: 71,483,798 I41V probably damaging Het
Pzp A G 6: 128,524,014 V127A possibly damaging Het
RP23-399J5.1 T C 8: 71,089,927 noncoding transcript Het
Rras A T 7: 45,020,396 D112V probably damaging Het
Sdcbp2 T A 2: 151,582,726 Y5* probably null Het
Slc43a2 T C 11: 75,570,607 F462L probably damaging Het
Smchd1 T A 17: 71,377,057 K1436* probably null Het
Snrnp27 A C 6: 86,682,920 S31A unknown Het
Sqstm1 A C 11: 50,207,424 F172V probably benign Het
Stk32b T A 5: 37,649,114 I29F probably damaging Het
Syt10 G A 15: 89,841,621 T50I probably benign Het
Syt16 T C 12: 74,266,730 Y477H probably damaging Het
Tacr3 A T 3: 134,932,392 T437S probably benign Het
Tg G A 15: 66,683,993 D845N probably benign Het
Uqcc1 G T 2: 155,921,644 S36R possibly damaging Het
Vmn1r20 T C 6: 57,432,406 V239A possibly damaging Het
Xpo7 T A 14: 70,695,663 Q263L possibly damaging Het
Zfp442 T C 2: 150,408,096 K572E probably damaging Het
Zswim5 A C 4: 116,962,621 S408R 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
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
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
R7652:Rgs7 UTSW 1 175093830 missense probably benign
R7689:Rgs7 UTSW 1 175121730 missense probably benign 0.33
Z1088:Rgs7 UTSW 1 175084020 missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GAGAAGCTTCCATACATTAGTTGAG -3'
(R):5'- ACCTTGTAATGCCTGTCTGGG -3'

Sequencing Primer
(F):5'- CATTGATCCATAACTAGAACTGTGG -3'
(R):5'- AATGCCTGTCTGGGAGATTTCTC -3'
Posted On2017-07-14