Incidental Mutation 'IGL02948:Homer2'
ID 364820
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: 0.151) question?
Stock # IGL02948
Quality Score
Status
Chromosome 7
Chromosomal Location 81250229-81356673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81299393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 24 (W24L)
Ref Sequence ENSEMBL: ENSMUSP00000146787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026922] [ENSMUST00000098326] [ENSMUST00000207371] [ENSMUST00000207983] [ENSMUST00000208937]
AlphaFold Q9QWW1
Predicted Effect probably damaging
Transcript: ENSMUST00000026922
AA Change: W24L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026922
Gene: ENSMUSG00000025813
AA Change: W24L

DomainStartEndE-ValueType
WH1 1 107 1.86e-37 SMART
coiled coil region 162 320 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098326
SMART Domains Protein: ENSMUSP00000095931
Gene: ENSMUSG00000025813

DomainStartEndE-ValueType
Pfam:WH1 1 43 4.6e-11 PFAM
coiled coil region 98 256 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207289
Predicted Effect probably benign
Transcript: ENSMUST00000207371
Predicted Effect probably damaging
Transcript: ENSMUST00000207983
AA Change: W24L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208107
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T 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
IGL02865:Homer2 APN 7 81,260,080 (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