Incidental Mutation 'R4395:Homer3'
ID 325442
Institutional Source Beutler Lab
Gene Symbol Homer3
Ensembl Gene ENSMUSG00000003573
Gene Name homer scaffolding protein 3
Synonyms
MMRRC Submission 041684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R4395 (G1)
Quality Score 184
Status Not validated
Chromosome 8
Chromosomal Location 70735529-70747011 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 70742793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000003669] [ENSMUST00000008004] [ENSMUST00000087467] [ENSMUST00000110124] [ENSMUST00000140212]
AlphaFold Q99JP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000003669
AA Change: R168Q

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: R168Q

DomainStartEndE-ValueType
WH1 4 110 4.92e-37 SMART
low complexity region 198 210 N/A INTRINSIC
PDB:3CVF|D 285 342 2e-10 PDB
low complexity region 343 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000008004
SMART Domains Protein: ENSMUSP00000008004
Gene: ENSMUSG00000057788

DomainStartEndE-ValueType
DEXDc 21 222 1.85e-57 SMART
HELICc 262 343 2.41e-29 SMART
low complexity region 369 383 N/A INTRINSIC
low complexity region 461 470 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087467
SMART Domains Protein: ENSMUSP00000084735
Gene: ENSMUSG00000003573

DomainStartEndE-ValueType
Pfam:WH1 1 107 4.2e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110124
AA Change: R168Q

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: R168Q

DomainStartEndE-ValueType
WH1 4 110 4.92e-37 SMART
low complexity region 198 210 N/A INTRINSIC
PDB:3CVF|D 285 342 2e-10 PDB
low complexity region 343 358 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127094
Predicted Effect probably null
Transcript: ENSMUST00000135368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135692
Predicted Effect possibly damaging
Transcript: ENSMUST00000140212
AA Change: R168Q

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: R168Q

DomainStartEndE-ValueType
WH1 4 110 4.92e-37 SMART
low complexity region 198 210 N/A INTRINSIC
PDB:3CVF|D 282 339 2e-10 PDB
low complexity region 340 355 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144890
Meta Mutation Damage Score 0.3504 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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 postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutants exhibit normal sensitivity to cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 A G 4: 49,447,679 (GRCm39) Y283H probably benign Het
Adamtsl5 A G 10: 80,180,736 (GRCm39) C109R probably damaging Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Alpk3 C T 7: 80,744,703 (GRCm39) S1266F probably damaging Het
Arfgef3 A G 10: 18,473,457 (GRCm39) L1614P probably damaging Het
Atm T C 9: 53,376,527 (GRCm39) R2038G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Capza2 T C 6: 17,656,449 (GRCm39) probably null Het
Cfap43 T C 19: 47,740,352 (GRCm39) T1274A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cisd3 A G 11: 97,579,212 (GRCm39) Y115C probably damaging Het
Crebl2 A G 6: 134,826,208 (GRCm39) E53G probably damaging Het
Ech1 T C 7: 28,525,671 (GRCm39) S107P probably damaging Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Grm8 T A 6: 27,429,431 (GRCm39) I488F probably damaging Het
Hmga2 C T 10: 120,311,956 (GRCm39) G5S probably damaging Het
Ifit3b G T 19: 34,589,951 (GRCm39) E376* probably null Het
Ints5 A G 19: 8,873,808 (GRCm39) E589G probably damaging Het
Iqsec2 C T X: 150,992,049 (GRCm39) T562I probably damaging Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Ltv1 T C 10: 13,066,323 (GRCm39) Y101C probably benign Het
Maf1 T C 15: 76,236,357 (GRCm39) probably benign Het
Map3k13 A T 16: 21,717,321 (GRCm39) K185N possibly damaging Het
Mtcl3 T C 10: 29,023,351 (GRCm39) S233P probably benign Het
Mtus2 A T 5: 148,013,432 (GRCm39) Q75L probably benign Het
Nod2 T A 8: 89,391,019 (GRCm39) F427Y probably damaging Het
Or1s2 A T 19: 13,758,275 (GRCm39) I100F probably benign Het
Or5p51 A G 7: 107,444,469 (GRCm39) L157P probably damaging Het
Pik3cg T C 12: 32,254,091 (GRCm39) D632G probably damaging Het
Plekhs1 A G 19: 56,468,326 (GRCm39) D298G probably benign Het
Rbm34 T C 8: 127,676,131 (GRCm39) T375A probably benign Het
Slc4a7 C T 14: 14,765,665 (GRCm38) T549I probably damaging Het
Slco1a7 T C 6: 141,657,844 (GRCm39) I565V probably benign Het
Stk17b A G 1: 53,803,274 (GRCm39) I47T probably damaging Het
Tenm2 C T 11: 35,915,451 (GRCm39) V2028I probably benign Het
Tle4 A T 19: 14,495,302 (GRCm39) H142Q probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Trpm2 T C 10: 77,765,053 (GRCm39) I983V probably benign Het
Ttll8 C T 15: 88,799,783 (GRCm39) A553T possibly damaging Het
Ubxn11 G T 4: 133,843,431 (GRCm39) E171D possibly damaging Het
Other mutations in Homer3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Homer3 APN 8 70,742,807 (GRCm39) missense probably damaging 0.96
IGL02493:Homer3 APN 8 70,742,721 (GRCm39) missense probably benign 0.00
IGL03134:Homer3 UTSW 8 70,738,985 (GRCm39) missense probably benign 0.00
R2436:Homer3 UTSW 8 70,745,706 (GRCm39) missense possibly damaging 0.91
R3508:Homer3 UTSW 8 70,744,005 (GRCm39) missense probably benign 0.06
R4391:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4392:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4396:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4397:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4401:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4402:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4445:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4446:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4482:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4488:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4489:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4664:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4666:Homer3 UTSW 8 70,742,793 (GRCm39) splice site probably null
R4751:Homer3 UTSW 8 70,738,084 (GRCm39) missense probably damaging 1.00
R5071:Homer3 UTSW 8 70,744,005 (GRCm39) missense probably benign
R5828:Homer3 UTSW 8 70,738,956 (GRCm39) missense probably benign 0.02
R6052:Homer3 UTSW 8 70,744,076 (GRCm39) nonsense probably null
R6211:Homer3 UTSW 8 70,738,174 (GRCm39) missense probably damaging 1.00
R6234:Homer3 UTSW 8 70,743,815 (GRCm39) critical splice donor site probably null
R6895:Homer3 UTSW 8 70,737,955 (GRCm39) missense probably damaging 0.99
R6914:Homer3 UTSW 8 70,744,201 (GRCm39) missense probably benign 0.00
R6942:Homer3 UTSW 8 70,744,201 (GRCm39) missense probably benign 0.00
R7300:Homer3 UTSW 8 70,737,953 (GRCm39) start codon destroyed probably null 0.23
R7391:Homer3 UTSW 8 70,742,134 (GRCm39) missense probably benign 0.00
R7553:Homer3 UTSW 8 70,742,774 (GRCm39) missense probably benign 0.02
R7555:Homer3 UTSW 8 70,742,063 (GRCm39) missense probably damaging 1.00
R7721:Homer3 UTSW 8 70,743,662 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TACCCCAGTGGCTTCAATCAAC -3'
(R):5'- CCTTTAGTGACAATCAAGACCCTG -3'

Sequencing Primer
(F):5'- CCAGTGGCTTCAATCAACTTTAC -3'
(R):5'- AATTTCTGAGTTCGAGGCCAGC -3'
Posted On 2015-07-06