Incidental Mutation 'IGL03231:Brs3'
ID413901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brs3
Ensembl Gene ENSMUSG00000031130
Gene Namebombesin-like receptor 3
SynonymsBRS-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03231
Quality Score
Status
ChromosomeX
Chromosomal Location57043074-57048758 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 57045444 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 221 (C221F)
Ref Sequence ENSEMBL: ENSMUSP00000033464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033464]
Predicted Effect probably benign
Transcript: ENSMUST00000033464
AA Change: C221F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000033464
Gene: ENSMUSG00000031130
AA Change: C221F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 52 347 6.7e-9 PFAM
Pfam:7TM_GPCR_Srx 56 344 8.4e-7 PFAM
Pfam:7TM_GPCR_Srsx 58 345 9.9e-10 PFAM
Pfam:7tm_1 64 331 4.5e-57 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit mild obesity, hypertension, impaired glucose metabolism, reduced metabolic rate, and hyperphagia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,268,702 T526A probably benign Het
9530053A07Rik A G 7: 28,153,722 E1478G possibly damaging Het
Abca9 A C 11: 110,155,268 F277V probably damaging Het
Arel1 T A 12: 84,934,310 T308S probably benign Het
Asic1 T A 15: 99,699,102 H548Q probably benign Het
B3galt1 T C 2: 68,118,603 Y221H probably damaging Het
C77080 C T 4: 129,223,681 V385I possibly damaging Het
Capn7 G A 14: 31,355,290 G322R probably damaging Het
Ccdc138 T C 10: 58,573,706 L619P probably damaging Het
Cdh22 C T 2: 165,116,206 V614I probably benign Het
Dnah5 C T 15: 28,311,148 R1758W probably damaging Het
Dr1 T C 5: 108,275,608 V87A probably benign Het
F830045P16Rik A G 2: 129,460,473 S400P probably damaging Het
Fyb2 T A 4: 104,986,263 Y353* probably null Het
Gm28043 A G 17: 29,635,942 D457G probably damaging Het
Gsap T C 5: 21,229,166 V260A probably damaging Het
Kcnt2 A T 1: 140,534,002 probably benign Het
Magee2 A T X: 104,856,338 L236M probably damaging Het
Map4k3 A T 17: 80,597,675 V729E probably damaging Het
Myh13 A G 11: 67,351,991 E910G possibly damaging Het
Nbeal1 G T 1: 60,236,459 A651S probably benign Het
Nuak2 A T 1: 132,328,177 D188V probably damaging Het
Nup210l A G 3: 90,189,545 T1354A probably damaging Het
Olfr1494 A T 19: 13,749,385 Q93L probably benign Het
Pof1b C T X: 112,645,290 S506N possibly damaging Het
Prrt3 A G 6: 113,497,524 S246P possibly damaging Het
Rps6ka6 T A X: 111,450,321 T43S probably benign Het
Slc19a2 G T 1: 164,260,880 W98L probably damaging Het
Snap29 C T 16: 17,427,100 S195L probably benign Het
Stt3b C T 9: 115,243,994 G815S unknown Het
Tm9sf2 T G 14: 122,141,252 I256R possibly damaging Het
Tpbpb A T 13: 60,902,182 N44K probably damaging Het
Trim13 A G 14: 61,605,545 E337G probably benign Het
Trmt6 A T 2: 132,815,836 D33E probably benign Het
Trpm6 T A 19: 18,819,181 S800R probably benign Het
V1rd19 A G 7: 24,003,903 I265V probably benign Het
Xkrx A G X: 134,150,642 L420P probably damaging Het
Zfp618 T C 4: 63,094,479 Y167H probably damaging Het
Other mutations in Brs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Brs3 APN X 57047367 utr 3 prime probably benign
R1883:Brs3 UTSW X 57047089 missense probably benign 0.00
R1884:Brs3 UTSW X 57047089 missense probably benign 0.00
R3899:Brs3 UTSW X 57047256 missense possibly damaging 0.60
Posted On2016-08-02