Incidental Mutation 'R6489:Homer2'
ID 522634
Institutional Source Beutler Lab
Gene Symbol Homer2
Ensembl Gene ENSMUSG00000025813
Gene Name homer scaffolding protein 2
Synonyms Vesl-2, 9330120H11Rik, Cupidin, CPD
MMRRC Submission 044621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R6489 (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 81274026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 57 (T57A)
Ref Sequence ENSEMBL: ENSMUSP00000147030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026922] [ENSMUST00000098326] [ENSMUST00000207371] [ENSMUST00000207983] [ENSMUST00000208937]
AlphaFold Q9QWW1
Predicted Effect probably benign
Transcript: ENSMUST00000026922
AA Change: T121A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026922
Gene: ENSMUSG00000025813
AA Change: T121A

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: T57A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095931
Gene: ENSMUSG00000025813
AA Change: T57A

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
AA Change: T57A

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000207983
AA Change: T121A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208937
AA Change: T57A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.3%
  • 20x: 90.6%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl T C 11: 69,901,145 (GRCm39) T650A probably benign Het
Alkbh7 T A 17: 57,305,979 (GRCm39) S127T probably damaging Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
App G T 16: 84,853,408 (GRCm39) D223E unknown Het
Arhgef2 C A 3: 88,550,321 (GRCm39) S675R probably damaging Het
Atg14 T C 14: 47,786,480 (GRCm39) D258G probably damaging Het
Calhm5 A T 10: 33,968,502 (GRCm39) W184R probably damaging Het
Cbr1b A T 16: 93,427,286 (GRCm39) probably null Het
Ckap2l T C 2: 129,111,034 (GRCm39) D721G possibly damaging Het
Cog8 T C 8: 107,776,933 (GRCm39) T481A probably benign Het
Colec10 C A 15: 54,325,609 (GRCm39) probably null Het
Cplx3 A T 9: 57,521,009 (GRCm39) probably null Het
Dhx9 T C 1: 153,332,389 (GRCm39) probably benign Het
Dock1 T C 7: 134,592,270 (GRCm39) M935T probably damaging Het
Dsg4 T A 18: 20,604,420 (GRCm39) N962K possibly damaging Het
Dym T C 18: 75,213,297 (GRCm39) V173A probably benign Het
Exoc3l4 A G 12: 111,395,131 (GRCm39) Y583C probably damaging Het
Flnb G A 14: 7,867,551 (GRCm38) V103M probably damaging Het
Fzd1 T A 5: 4,807,336 (GRCm39) Q82L probably benign Het
Gabrr1 A G 4: 33,162,855 (GRCm39) I474V probably benign Het
Galnt11 G T 5: 25,469,964 (GRCm39) W521L probably damaging Het
Glb1l3 A G 9: 26,738,127 (GRCm39) V420A probably benign Het
H1f7 A T 15: 98,154,888 (GRCm39) L87* probably null Het
Ihh T A 1: 74,985,670 (GRCm39) T272S probably damaging Het
Il27ra T C 8: 84,758,179 (GRCm39) M524V probably benign Het
Mdp1 C A 14: 55,897,848 (GRCm39) probably benign Het
Med12l A G 3: 59,164,828 (GRCm39) K1436R probably damaging Het
Megf10 C T 18: 57,424,879 (GRCm39) S1006F probably benign Het
Miga1 A T 3: 151,984,645 (GRCm39) I426N probably damaging Het
Mtmr6 C T 14: 60,537,963 (GRCm39) T654I possibly damaging Het
Nbeal1 A G 1: 60,370,101 (GRCm39) S2673G possibly damaging Het
Nup93 T A 8: 95,028,716 (GRCm39) H193Q probably benign Het
Or1e25 T A 11: 73,494,265 (GRCm39) N286K probably damaging Het
Or4f7 A C 2: 111,644,405 (GRCm39) L222W probably damaging Het
Or52ae9 T C 7: 103,389,875 (GRCm39) N191D probably benign Het
Pdcd11 C T 19: 47,098,191 (GRCm39) R826C probably damaging Het
Pde4dip G A 3: 97,662,907 (GRCm39) R521* probably null Het
Phf2 T C 13: 48,979,658 (GRCm39) S158G unknown Het
Pla2g15 A G 8: 106,889,826 (GRCm39) E366G probably benign Het
Plekhm2 A T 4: 141,359,344 (GRCm39) H494Q probably damaging Het
Prpsap2 A T 11: 61,639,890 (GRCm39) M87K probably damaging Het
Rbm19 T G 5: 120,258,195 (GRCm39) S137A probably benign Het
Ryr2 T A 13: 11,848,893 (GRCm39) I363L probably benign Het
Samd9l T C 6: 3,376,896 (GRCm39) T122A probably benign Het
Scn4a G C 11: 106,240,006 (GRCm39) D70E probably benign Het
Slc12a3 T A 8: 95,061,632 (GRCm39) V293D possibly damaging Het
Slc6a7 T C 18: 61,140,615 (GRCm39) Y139C probably damaging Het
Slco2b1 A T 7: 99,339,762 (GRCm39) C9* probably null Het
Slitrk1 A T 14: 109,148,735 (GRCm39) S659T possibly damaging Het
Son T G 16: 91,452,044 (GRCm39) S264A possibly damaging Het
Svep1 C A 4: 58,100,066 (GRCm39) G1326V probably damaging Het
Tcf12 A G 9: 71,922,918 (GRCm39) probably null Het
Ttn A G 2: 76,645,062 (GRCm39) V11185A probably damaging Het
Ubap2 T C 4: 41,203,574 (GRCm39) probably null Het
Utp15 G T 13: 98,387,117 (GRCm39) F434L probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vsnl1 T G 12: 11,382,219 (GRCm39) probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zbtb34 A C 2: 33,301,558 (GRCm39) S328A probably damaging Het
Zdbf2 T C 1: 63,346,637 (GRCm39) I1672T possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACCGAGAGCAGGCTAATAGTTG -3'
(R):5'- CAGTCTGACCATGATCGGTG -3'

Sequencing Primer
(F):5'- CTTCAGAATATCCTGCTGC -3'
(R):5'- CTGCCATTTGTACAGAATTTATAGGC -3'
Posted On 2018-06-06