Incidental Mutation 'R7652:Homer2'
ID 590915
Institutional Source Beutler Lab
Gene Symbol Homer2
Ensembl Gene ENSMUSG00000025813
Gene Name homer scaffolding protein 2
Synonyms Vesl-2, 9330120H11Rik, Cupidin, CPD
MMRRC Submission 045729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R7652 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 81250229-81356673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81299414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 17 (D17G)
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: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026922
Gene: ENSMUSG00000025813
AA Change: D17G

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 probably benign
Transcript: ENSMUST00000207371
Predicted Effect probably damaging
Transcript: ENSMUST00000207983
AA Change: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208937
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (66/66)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,253,675 (GRCm39) probably null Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Anxa2r2 A T 13: 120,488,529 (GRCm39) S7T possibly damaging Het
Aph1b T C 9: 66,691,823 (GRCm39) T195A probably benign Het
Apoe G T 7: 19,430,535 (GRCm39) R236S possibly damaging Het
Arap3 G T 18: 38,111,505 (GRCm39) T1137K probably damaging Het
Arhgap45 C T 10: 79,864,672 (GRCm39) A908V probably benign Het
Atp13a1 T C 8: 70,258,209 (GRCm39) C965R probably damaging Het
C7 A G 15: 5,041,587 (GRCm39) Y440H probably damaging Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Ddah2 C A 17: 35,280,026 (GRCm39) R173S possibly damaging Het
Dnajc11 T C 4: 152,058,682 (GRCm39) Y337H probably damaging Het
Dnajc25 A G 4: 59,020,483 (GRCm39) K302R probably benign Het
Dnajc6 A T 4: 101,463,874 (GRCm39) Q209L probably damaging Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Ebf2 G T 14: 67,628,016 (GRCm39) probably null Het
Epx A G 11: 87,766,160 (GRCm39) probably null Het
Eqtn T C 4: 94,816,574 (GRCm39) Y73C probably damaging Het
Fam107b A G 2: 3,773,884 (GRCm39) N21S probably benign Het
Fasn G A 11: 120,707,154 (GRCm39) S857F probably damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Gas8 A G 8: 124,253,275 (GRCm39) I208V probably benign Het
Gm3269 T C 14: 16,026,209 (GRCm39) I88T probably benign Het
Gm8005 C A 14: 42,258,919 (GRCm39) L136F Het
Grid2ip C A 5: 143,368,393 (GRCm39) P743Q probably damaging Het
H2-T15 A T 17: 36,367,675 (GRCm39) V221D probably damaging Het
Hbs1l C T 10: 21,240,659 (GRCm39) T626I probably benign Het
Hdac3 T A 18: 38,087,972 (GRCm39) probably benign Het
Hnrnpab T C 11: 51,496,400 (GRCm39) Y94C probably damaging Het
Ikbke C T 1: 131,199,569 (GRCm39) R308Q probably damaging Het
Ints10 A G 8: 69,277,771 (GRCm39) T682A possibly damaging Het
Klhl3 G A 13: 58,261,146 (GRCm39) probably benign Het
Klk1b9 A T 7: 43,445,514 (GRCm39) T235S probably benign Het
Kmt2c T C 5: 25,520,717 (GRCm39) T1798A probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Krtap4-6 T C 11: 99,556,440 (GRCm39) I96V unknown Het
Lef1 A C 3: 130,994,003 (GRCm39) R354S probably damaging Het
Lrp6 A T 6: 134,488,208 (GRCm39) L296* probably null Het
Maml2 T C 9: 13,532,945 (GRCm39) Y720H Het
Mmrn1 A G 6: 60,954,490 (GRCm39) N924D probably benign Het
Myh7b A G 2: 155,474,156 (GRCm39) K1624E probably damaging Het
Nos3 T A 5: 24,588,610 (GRCm39) V1112D probably damaging Het
Or2y14 T C 11: 49,404,512 (GRCm39) F16L probably damaging Het
Or4c111 C T 2: 88,843,893 (GRCm39) V172I probably benign Het
Or5an1b C A 19: 12,299,651 (GRCm39) C180F probably damaging Het
Or5w13 A G 2: 87,523,704 (GRCm39) I174T probably damaging Het
Or6c70 A T 10: 129,710,346 (GRCm39) N93K probably damaging Het
Phospho1 T C 11: 95,721,645 (GRCm39) L105S probably damaging Het
Prss35 T A 9: 86,638,023 (GRCm39) N264K probably benign Het
Ptpn13 A G 5: 103,677,578 (GRCm39) D732G probably benign Het
Rab18 A T 18: 6,783,123 (GRCm39) T64S possibly damaging Het
Rft1 A G 14: 30,399,773 (GRCm39) Q319R probably benign Het
Rgs7 T A 1: 174,921,396 (GRCm39) M220L probably benign Het
Rnf13 A G 3: 57,671,772 (GRCm39) N28S probably benign Het
Setd3 A T 12: 108,078,548 (GRCm39) I311N probably damaging Het
Setd5 G A 6: 113,098,725 (GRCm39) R786H probably damaging Het
Slc26a6 T C 9: 108,733,143 (GRCm39) probably null Het
Slc26a9 A T 1: 131,691,634 (GRCm39) T626S probably benign Het
Stambp A T 6: 83,540,910 (GRCm39) probably null Het
Stom A T 2: 35,206,041 (GRCm39) N229K probably benign Het
Tlr1 A T 5: 65,084,130 (GRCm39) L149* probably null Het
Trpc3 C A 3: 36,692,677 (GRCm39) V772F probably benign Het
Ube3a A G 7: 58,893,102 (GRCm39) probably benign Het
Ugt2b35 T A 5: 87,149,369 (GRCm39) F207I probably damaging Het
Usp53 A T 3: 122,746,884 (GRCm39) D360E possibly damaging Het
Vmn2r96 T G 17: 18,793,832 (GRCm39) S59A probably benign Het
Wdr70 A G 15: 8,108,700 (GRCm39) C149R probably benign Het
Wnt3 A G 11: 103,703,290 (GRCm39) T258A possibly damaging Het
Zfp729b T C 13: 67,739,371 (GRCm39) T965A probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTTTCAAATGCACCAAACTGC -3'
(R):5'- TGCAGAAACCACTCACAGGG -3'

Sequencing Primer
(F):5'- CTGCTTTGGAATCAAACTAAGTGAGG -3'
(R):5'- CAGGGATACTGTCCTCCTCC -3'
Posted On 2019-10-24