Incidental Mutation 'IGL02865:Homer2'
ID362304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Homer2
Ensembl Gene ENSMUSG00000025813
Gene Namehomer scaffolding protein 2
Synonyms9330120H11Rik, Cupidin, Vesl-2, CPD
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL02865
Quality Score
Status
Chromosome7
Chromosomal Location81600481-81707527 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81610332 bp
ZygosityHeterozygous
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]
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
4930452B06Rik T C 14: 8,517,940 E293G probably benign Het
Avl9 C A 6: 56,736,873 T372N probably damaging Het
Ccni C T 5: 93,183,336 V135I probably benign Het
Dnah17 A G 11: 118,073,548 F2481S probably damaging Het
Dnajc10 A G 2: 80,331,303 D295G probably benign Het
Hsp90aa1 A G 12: 110,693,082 V476A probably benign Het
Jarid2 T C 13: 44,910,560 L855P probably damaging Het
Kif26a T A 12: 112,177,615 C1434* probably null Het
Lpo A G 11: 87,806,977 V668A possibly damaging Het
Med12l T C 3: 59,294,292 Y1973H probably damaging Het
Mep1b C A 18: 21,093,384 H434Q probably benign Het
Ngly1 T A 14: 16,290,939 probably benign Het
Ptprn A T 1: 75,262,363 F9L probably damaging Het
Sema6d T A 2: 124,664,073 N600K probably damaging Het
Slc1a1 C A 19: 28,905,338 A334E probably damaging Het
Son A G 16: 91,651,752 E67G probably damaging Het
Tpmt T C 13: 47,025,402 Y229C probably benign Het
Vmn2r23 A T 6: 123,741,619 I644F probably damaging Het
Whrn T C 4: 63,415,492 M906V probably benign Het
Zfp938 A T 10: 82,226,192 F198Y probably benign Het
Other mutations in Homer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Homer2 APN 7 81618572 splice site probably null
IGL02197:Homer2 APN 7 81610399 missense probably benign 0.01
IGL02948:Homer2 APN 7 81649645 missense probably damaging 1.00
IGL03035:Homer2 APN 7 81624278 missense possibly damaging 0.57
R0148:Homer2 UTSW 7 81624278 missense probably benign 0.11
R0480:Homer2 UTSW 7 81618603 missense possibly damaging 0.86
R0544:Homer2 UTSW 7 81649678 missense probably damaging 1.00
R1872:Homer2 UTSW 7 81636402 missense probably damaging 0.99
R1873:Homer2 UTSW 7 81636363 missense probably damaging 1.00
R2060:Homer2 UTSW 7 81618703 missense probably benign 0.00
R2148:Homer2 UTSW 7 81624295 missense possibly damaging 0.50
R4096:Homer2 UTSW 7 81611304 critical splice donor site probably null
R4888:Homer2 UTSW 7 81649563 missense probably benign 0.02
R5121:Homer2 UTSW 7 81649563 missense probably benign 0.02
R6033:Homer2 UTSW 7 81618679 missense possibly damaging 0.92
R6033:Homer2 UTSW 7 81618679 missense possibly damaging 0.92
R6489:Homer2 UTSW 7 81624278 missense probably benign 0.11
R7652:Homer2 UTSW 7 81649666 missense probably damaging 1.00
Posted On2015-12-18