Incidental Mutation 'IGL02865:Homer2'
ID 362304
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 # IGL02865
Quality Score
Status
Chromosome 7
Chromosomal Location 81250229-81356673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81260080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 265 (F265S)
Ref Sequence ENSEMBL: ENSMUSP00000095931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026922] [ENSMUST00000098326] [ENSMUST00000207371] [ENSMUST00000207983] [ENSMUST00000208937]
AlphaFold Q9QWW1
Predicted Effect probably damaging
Transcript: ENSMUST00000026922
AA Change: F318S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026922
Gene: ENSMUSG00000025813
AA Change: F318S

DomainStartEndE-ValueType
WH1 1 107 1.86e-37 SMART
coiled coil region 162 320 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098326
AA Change: F265S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095931
Gene: ENSMUSG00000025813
AA Change: F265S

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 possibly damaging
Transcript: ENSMUST00000207983
AA Change: F329S

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Avl9 C A 6: 56,713,858 (GRCm39) T372N probably damaging Het
Ccni C T 5: 93,331,195 (GRCm39) V135I probably benign Het
Cfap20dc T C 14: 8,517,940 (GRCm38) E293G probably benign Het
Dnah17 A G 11: 117,964,374 (GRCm39) F2481S probably damaging Het
Dnajc10 A G 2: 80,161,647 (GRCm39) D295G probably benign Het
Hsp90aa1 A G 12: 110,659,516 (GRCm39) V476A probably benign Het
Jarid2 T C 13: 45,064,036 (GRCm39) L855P probably damaging Het
Kif26a T A 12: 112,144,049 (GRCm39) C1434* probably null Het
Lpo A G 11: 87,697,803 (GRCm39) V668A possibly damaging Het
Med12l T C 3: 59,201,713 (GRCm39) Y1973H probably damaging Het
Mep1b C A 18: 21,226,441 (GRCm39) H434Q probably benign Het
Ngly1 T A 14: 16,290,939 (GRCm38) probably benign Het
Ptprn A T 1: 75,239,007 (GRCm39) F9L probably damaging Het
Sema6d T A 2: 124,505,993 (GRCm39) N600K probably damaging Het
Slc1a1 C A 19: 28,882,738 (GRCm39) A334E probably damaging Het
Son A G 16: 91,448,640 (GRCm39) E67G probably damaging Het
Tpmt T C 13: 47,178,878 (GRCm39) Y229C probably benign Het
Vmn2r23 A T 6: 123,718,578 (GRCm39) I644F probably damaging Het
Whrn T C 4: 63,333,729 (GRCm39) M906V probably benign Het
Zfp938 A T 10: 82,062,026 (GRCm39) F198Y probably benign Het
Other mutations in Homer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Homer2 APN 7 81,268,320 (GRCm39) splice site probably null
IGL02197:Homer2 APN 7 81,260,147 (GRCm39) missense probably benign 0.01
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 2015-12-18