Incidental Mutation 'R5071:Homer3'
ID 388786
Institutional Source Beutler Lab
Gene Symbol Homer3
Ensembl Gene ENSMUSG00000003573
Gene Name homer scaffolding protein 3
Synonyms
MMRRC Submission 042661-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R5071 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 70735529-70747011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70744005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 243 (V243A)
Ref Sequence ENSEMBL: ENSMUSP00000117033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003669] [ENSMUST00000008004] [ENSMUST00000087467] [ENSMUST00000110124] [ENSMUST00000140212]
AlphaFold Q99JP6
Predicted Effect probably benign
Transcript: ENSMUST00000003669
AA Change: V243A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: V243A

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 probably benign
Transcript: ENSMUST00000110124
AA Change: V243A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: V243A

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 benign
Transcript: ENSMUST00000135368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143528
Predicted Effect probably benign
Transcript: ENSMUST00000140212
AA Change: V243A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: V243A

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: ENSMUST00000135692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138688
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI182371 A T 2: 34,975,227 (GRCm39) I334N probably benign Het
Aldh1b1 A G 4: 45,803,383 (GRCm39) probably null Het
Armc9 G A 1: 86,113,838 (GRCm39) M298I probably benign Het
Atp8a1 T A 5: 67,973,066 (GRCm39) K27N probably benign Het
BC004004 G A 17: 29,513,389 (GRCm39) probably null Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh17 G T 4: 11,810,325 (GRCm39) G672V probably damaging Het
Cdh5 C A 8: 104,867,334 (GRCm39) T537K probably damaging Het
Chd1 T A 17: 15,982,667 (GRCm39) S1377R probably benign Het
Chd2 T C 7: 73,079,437 (GRCm39) N1821S probably benign Het
Cnot3 A G 7: 3,653,860 (GRCm39) K4R probably damaging Het
Colq T A 14: 31,250,789 (GRCm39) I339F possibly damaging Het
Coq2 A T 5: 100,815,816 (GRCm39) L121Q probably damaging Het
Csnk1e G A 15: 79,305,072 (GRCm39) R342* probably null Het
Cstl1 A T 2: 148,592,847 (GRCm39) M1L probably benign Het
Cwh43 A G 5: 73,581,256 (GRCm39) probably null Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Dgkh T C 14: 78,841,972 (GRCm39) K417E probably damaging Het
Dnah11 A T 12: 118,046,188 (GRCm39) L1750* probably null Het
Edn1 A G 13: 42,457,153 (GRCm39) E62G probably damaging Het
Eef1akmt1 A G 14: 57,803,464 (GRCm39) L30P probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Fitm1 T A 14: 55,813,230 (GRCm39) V31E possibly damaging Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gabrd A C 4: 155,471,619 (GRCm39) F228C probably damaging Het
Gm5916 A C 9: 36,039,964 (GRCm39) L8R probably benign Het
Gpr108 A G 17: 57,542,335 (GRCm39) S557P probably damaging Het
Gpr75 C A 11: 30,842,380 (GRCm39) N428K probably damaging Het
H2-M5 T G 17: 37,298,076 (GRCm39) probably null Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Hydin A G 8: 111,265,105 (GRCm39) N2763D probably benign Het
Ifi203 T C 1: 173,762,676 (GRCm39) Q152R possibly damaging Het
Ifi44 T C 3: 151,455,269 (GRCm39) probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Ighv1-24 A G 12: 114,736,748 (GRCm39) Y51H probably benign Het
Inf2 A T 12: 112,578,473 (GRCm39) probably null Het
Insl6 T C 19: 29,302,655 (GRCm39) R21G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Ltbp3 T C 19: 5,806,851 (GRCm39) C1043R probably damaging Het
Mpeg1 T A 19: 12,438,545 (GRCm39) M1K probably null Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Muc21 G A 17: 35,931,444 (GRCm39) probably benign Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nek9 C A 12: 85,374,233 (GRCm39) R268L possibly damaging Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or2l5 A G 16: 19,333,777 (GRCm39) I203T probably benign Het
Or4c100 T C 2: 88,356,385 (GRCm39) S153P probably damaging Het
Or51l14 A T 7: 103,100,617 (GRCm39) E24D probably benign Het
Or52n2c A C 7: 104,574,700 (GRCm39) N90K probably benign Het
Or6x1 T C 9: 40,098,960 (GRCm39) L183S probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Plagl1 A G 10: 13,003,005 (GRCm39) Y91C probably damaging Het
Polr1a A G 6: 71,908,693 (GRCm39) N506S possibly damaging Het
Pomt2 A C 12: 87,180,234 (GRCm39) C256G probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Ptprf C A 4: 118,069,196 (GRCm39) G1624W probably damaging Het
Rbm38 C T 2: 172,863,875 (GRCm39) P15S probably benign Het
Rc3h1 A G 1: 160,787,047 (GRCm39) D814G possibly damaging Het
Rnf40 T C 7: 127,196,458 (GRCm39) L802P probably damaging Het
Rusc2 A G 4: 43,415,240 (GRCm39) D182G probably benign Het
Setd1b A G 5: 123,298,977 (GRCm39) probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Smarcc2 A G 10: 128,299,809 (GRCm39) D158G probably damaging Het
Sptbn1 A G 11: 30,063,854 (GRCm39) probably null Het
St3gal5 T C 6: 72,109,037 (GRCm39) C42R probably damaging Het
Syt7 T C 19: 10,420,792 (GRCm39) S397P possibly damaging Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Thada T A 17: 84,693,960 (GRCm39) D1263V probably damaging Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tpcn1 A T 5: 120,686,334 (GRCm39) probably null Het
Tppp2 G A 14: 52,157,912 (GRCm39) R119Q probably benign Het
Trim30d A C 7: 104,137,165 (GRCm39) V13G probably damaging Het
Ubxn2b A T 4: 6,214,746 (GRCm39) Q260L probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Usp5 A G 6: 124,803,342 (GRCm39) F7L probably benign Het
Utrn A T 10: 12,259,948 (GRCm39) probably null Het
Vmn1r28 A T 6: 58,242,894 (GRCm39) I246F probably benign Het
Vmn2r2 C A 3: 64,024,321 (GRCm39) M753I probably benign Het
Zbtb26 T C 2: 37,325,941 (GRCm39) H365R probably benign Het
Zfp976 A T 7: 42,262,354 (GRCm39) Y494* probably null 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
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
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'- TGCAGAGGCTGAACTCTTGAG -3'
(R):5'- TTCTTCAAAGTCTGGATCTCCTGG -3'

Sequencing Primer
(F):5'- TGAACTCTTGAGGCAGCG -3'
(R):5'- TTCAAAGTCTGGATCTCCTGGAGAAG -3'
Posted On 2016-06-06