Incidental Mutation 'R4396:Homer3'
ID 325488
Institutional Source Beutler Lab
Gene Symbol Homer3
Ensembl Gene ENSMUSG00000003573
Gene Name homer scaffolding protein 3
Synonyms
MMRRC Submission 041129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R4396 (G1)
Quality Score 225
Status 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: ENSMUST00000143528
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: ENSMUST00000155711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135692
Meta Mutation Damage Score 0.3504 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (52/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,195,143 (GRCm39) F552L probably damaging Het
Actn2 A G 13: 12,325,765 (GRCm39) L70P probably damaging Het
Btbd7 A G 12: 102,751,552 (GRCm39) S1071P probably benign Het
Cd200r1 T A 16: 44,586,417 (GRCm39) W16R probably benign Het
Cdhr2 A G 13: 54,863,478 (GRCm39) N120D probably damaging Het
Col19a1 T C 1: 24,549,947 (GRCm39) T317A unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dmbt1 T C 7: 130,718,361 (GRCm39) L1683P probably damaging Het
Dynll1 A T 5: 115,438,700 (GRCm39) C2S probably benign Het
Elp2 T A 18: 24,742,707 (GRCm39) S80T probably damaging Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Fzd3 A G 14: 65,473,054 (GRCm39) I238T probably damaging Het
Galnt7 A T 8: 57,991,215 (GRCm39) F432I probably damaging Het
Gemin5 T A 11: 58,030,375 (GRCm39) T817S probably benign Het
Gm5414 T G 15: 101,534,101 (GRCm39) E294A probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Kcnj4 C A 15: 79,368,874 (GRCm39) A369S probably benign Het
Llgl1 T C 11: 60,596,834 (GRCm39) V145A probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mettl2 A G 11: 105,017,604 (GRCm39) D38G probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mpp4 T C 1: 59,183,961 (GRCm39) I260V possibly damaging Het
Mtcl1 T C 17: 66,651,220 (GRCm39) E1112G probably damaging Het
Mtus2 T A 5: 148,140,748 (GRCm39) N871K possibly damaging Het
Mylk C T 16: 34,732,645 (GRCm39) Q642* probably null Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Or4f57 A G 2: 111,790,560 (GRCm39) I286T probably damaging Het
Pdzd2 A T 15: 12,387,732 (GRCm39) D875E probably benign Het
Piezo1 G T 8: 123,225,413 (GRCm39) T557K probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Plxnb1 T C 9: 108,929,291 (GRCm39) V49A possibly damaging Het
Pramel6 A T 2: 87,338,874 (GRCm39) I25F probably damaging Het
Rreb1 C T 13: 38,114,419 (GRCm39) Q593* probably null Het
Scn8a A G 15: 100,870,711 (GRCm39) N254S probably damaging Het
Scnn1g T G 7: 121,339,650 (GRCm39) S150A probably benign Het
Sec24a A G 11: 51,605,991 (GRCm39) F686L possibly damaging Het
Sirt1 T C 10: 63,157,777 (GRCm39) T546A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Traf5 A T 1: 191,729,806 (GRCm39) V415E probably benign Het
Traip C G 9: 107,836,686 (GRCm39) T110S probably benign Het
Treml2 T C 17: 48,615,142 (GRCm39) V209A probably benign Het
Trpv5 T C 6: 41,634,830 (GRCm39) S500G probably benign Het
Usp32 G A 11: 84,944,801 (GRCm39) L296F probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zswim1 A G 2: 164,667,369 (GRCm39) D207G probably 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
R4395: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'- ATACCCCAGTGGCTTCAATC -3'
(R):5'- TAGTGACAATCAAGACCCTGAC -3'

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