Incidental Mutation 'IGL02197:Homer2'
ID 284071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Homer2
Ensembl Gene ENSMUSG00000025813
Gene Name homer scaffolding protein 2
Synonyms Vesl-2, 9330120H11Rik, Cupidin, CPD
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # IGL02197
Quality Score
Status
Chromosome 7
Chromosomal Location 81250229-81356673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81260147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 296 (S296T)
Ref Sequence ENSEMBL: ENSMUSP00000026922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026922] [ENSMUST00000098326] [ENSMUST00000207371] [ENSMUST00000207983] [ENSMUST00000208937]
AlphaFold Q9QWW1
PDB Structure EVH1 DOMAIN FROM MURINE HOMER 2B/VESL 2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000026922
AA Change: S296T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000026922
Gene: ENSMUSG00000025813
AA Change: S296T

DomainStartEndE-ValueType
WH1 1 107 1.86e-37 SMART
coiled coil region 162 320 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098326
AA Change: S243T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095931
Gene: ENSMUSG00000025813
AA Change: S243T

DomainStartEndE-ValueType
Pfam:WH1 1 43 4.6e-11 PFAM
coiled coil region 98 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207526
Predicted Effect probably benign
Transcript: ENSMUST00000207983
AA Change: S307T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208858
Predicted Effect probably benign
Transcript: ENSMUST00000208937
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutants exhibit an increase in intracellular calcium concentration and in the frequency of intracellular calcium oscillations in pancreatic acinar cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 T C 2: 20,885,117 (GRCm39) S526G probably benign Het
Atad2b A T 12: 5,068,056 (GRCm39) N1018I possibly damaging Het
Baz1b A G 5: 135,237,951 (GRCm39) E209G probably benign Het
Bltp1 A G 3: 36,960,884 (GRCm39) T445A probably damaging Het
Capn11 T A 17: 45,950,782 (GRCm39) T264S probably benign Het
Cdh1 A G 8: 107,380,418 (GRCm39) E187G probably benign Het
Cps1 A G 1: 67,196,923 (GRCm39) I325V probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dmbt1 A G 7: 130,687,152 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,530,496 (GRCm39) D203G probably damaging Het
Eif2ak3 A G 6: 70,878,441 (GRCm39) Y1045C probably benign Het
Fam13a T A 6: 58,912,586 (GRCm39) D689V possibly damaging Het
Fnip1 T A 11: 54,384,200 (GRCm39) L342I probably damaging Het
Frk T A 10: 34,360,330 (GRCm39) N110K probably damaging Het
Gm5134 T C 10: 75,790,536 (GRCm39) probably null Het
Gm53 T C 11: 96,142,549 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,163 (GRCm39) noncoding transcript Het
Gm9936 A G 5: 114,995,152 (GRCm39) probably benign Het
Hk3 A G 13: 55,162,281 (GRCm39) F108L probably damaging Het
Itga2b T A 11: 102,357,145 (GRCm39) H245L probably benign Het
Ky T C 9: 102,414,985 (GRCm39) F299S possibly damaging Het
Lama5 A G 2: 179,849,012 (GRCm39) Y224H possibly damaging Het
Leng9 G T 7: 4,151,723 (GRCm39) L318I probably damaging Het
Lpin1 A G 12: 16,608,408 (GRCm39) probably null Het
Lrp2 T C 2: 69,297,224 (GRCm39) I3246V probably benign Het
Map2k3 A G 11: 60,837,590 (GRCm39) Y230C probably damaging Het
Myef2 T C 2: 124,955,959 (GRCm39) probably null Het
Myh3 A T 11: 66,989,409 (GRCm39) I1510L probably benign Het
Mypn T C 10: 62,959,057 (GRCm39) D1088G possibly damaging Het
Nek9 C A 12: 85,354,704 (GRCm39) V745L probably null Het
Neu1 T A 17: 35,153,641 (GRCm39) V355D possibly damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or4c107 A G 2: 88,789,028 (GRCm39) T73A probably benign Het
Or6e1 T C 14: 54,519,409 (GRCm39) *314W probably null Het
Papola A T 12: 105,795,442 (GRCm39) N631I possibly damaging Het
Pcnx1 T C 12: 81,965,878 (GRCm39) S682P probably benign Het
Pcnx1 T C 12: 82,039,925 (GRCm39) S2071P possibly damaging Het
Pga5 A G 19: 10,649,277 (GRCm39) probably benign Het
Phlda1 T A 10: 111,343,014 (GRCm39) M250K probably damaging Het
Phox2b A G 5: 67,253,869 (GRCm39) probably benign Het
Pkdrej A G 15: 85,699,994 (GRCm39) Y1981H possibly damaging Het
Pold1 G A 7: 44,191,663 (GRCm39) P108S probably benign Het
Ptprg T G 14: 12,220,613 (GRCm38) F442V probably damaging Het
Rab36 A G 10: 74,887,874 (GRCm39) I248M probably damaging Het
Scnn1b G A 7: 121,502,113 (GRCm39) R257Q probably null Het
Sdc1 A G 12: 8,840,835 (GRCm39) Q200R possibly damaging Het
Slc10a7 A G 8: 79,242,292 (GRCm39) T60A probably damaging Het
Snx13 A G 12: 35,156,800 (GRCm39) D484G probably damaging Het
Tlr1 G A 5: 65,083,797 (GRCm39) T260M probably damaging Het
Tpcn1 A G 5: 120,691,596 (GRCm39) V286A probably damaging Het
Traip T G 9: 107,845,936 (GRCm39) L343R possibly damaging Het
Unc13b A G 4: 43,165,828 (GRCm39) H204R probably damaging Het
Unc80 A G 1: 66,569,224 (GRCm39) S960G probably benign Het
V1ra8 C T 6: 90,180,184 (GRCm39) P129L probably benign Het
Vps13b T A 15: 35,930,202 (GRCm39) F3980I probably benign Het
Vps13d T C 4: 144,854,879 (GRCm39) N2248S probably benign Het
Vps26c G T 16: 94,302,549 (GRCm39) probably benign Het
Wnk4 T C 11: 101,154,783 (GRCm39) L324P probably damaging Het
Other mutations in Homer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Homer2 APN 7 81,268,320 (GRCm39) splice site probably null
IGL02865:Homer2 APN 7 81,260,080 (GRCm39) missense probably damaging 1.00
IGL02948:Homer2 APN 7 81,299,393 (GRCm39) missense probably damaging 1.00
IGL03035:Homer2 APN 7 81,274,026 (GRCm39) missense possibly damaging 0.57
R0148:Homer2 UTSW 7 81,274,026 (GRCm39) missense probably benign 0.11
R0480:Homer2 UTSW 7 81,268,351 (GRCm39) missense possibly damaging 0.86
R0544:Homer2 UTSW 7 81,299,426 (GRCm39) missense probably damaging 1.00
R1872:Homer2 UTSW 7 81,286,150 (GRCm39) missense probably damaging 0.99
R1873:Homer2 UTSW 7 81,286,111 (GRCm39) missense probably damaging 1.00
R2060:Homer2 UTSW 7 81,268,451 (GRCm39) missense probably benign 0.00
R2148:Homer2 UTSW 7 81,274,043 (GRCm39) missense possibly damaging 0.50
R4096:Homer2 UTSW 7 81,261,052 (GRCm39) critical splice donor site probably null
R4888:Homer2 UTSW 7 81,299,311 (GRCm39) missense probably benign 0.02
R5121:Homer2 UTSW 7 81,299,311 (GRCm39) missense probably benign 0.02
R6033:Homer2 UTSW 7 81,268,427 (GRCm39) missense possibly damaging 0.92
R6033:Homer2 UTSW 7 81,268,427 (GRCm39) missense possibly damaging 0.92
R6489:Homer2 UTSW 7 81,274,026 (GRCm39) missense probably benign 0.11
R7652:Homer2 UTSW 7 81,299,414 (GRCm39) missense probably damaging 1.00
R8306:Homer2 UTSW 7 81,274,014 (GRCm39) missense possibly damaging 0.78
R9334:Homer2 UTSW 7 81,261,078 (GRCm39) nonsense probably null
R9586:Homer2 UTSW 7 81,260,113 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16