Incidental Mutation 'IGL02493:Homer3'
ID 295732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Homer3
Ensembl Gene ENSMUSG00000003573
Gene Name homer scaffolding protein 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL02493
Quality Score
Status
Chromosome 8
Chromosomal Location 70735529-70747011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70742721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 144 (V144D)
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: V144D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: V144D

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: V144D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: V144D

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 probably benign
Transcript: ENSMUST00000140212
AA Change: V144D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: V144D

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: ENSMUST00000143528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155711
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 59,888,312 (GRCm39) S43R probably benign Het
Afap1l1 G T 18: 61,870,594 (GRCm39) Q595K possibly damaging Het
Alpk2 T C 18: 65,483,402 (GRCm39) E202G probably benign Het
Ap3b1 T C 13: 94,540,528 (GRCm39) V150A probably damaging Het
Bcas3 T C 11: 85,386,708 (GRCm39) I381T probably damaging Het
Best3 A T 10: 116,860,506 (GRCm39) R589W possibly damaging Het
Birc6 A G 17: 74,959,054 (GRCm39) probably benign Het
Clcn4 A C 7: 7,287,243 (GRCm39) D728E probably damaging Het
Commd2 C A 3: 57,559,080 (GRCm39) probably benign Het
Csrp1 T A 1: 135,678,801 (GRCm39) F175L probably damaging Het
Eif3c A T 7: 126,158,073 (GRCm39) N294K probably damaging Het
Fam184a A G 10: 53,570,789 (GRCm39) probably null Het
Fndc1 G T 17: 7,994,377 (GRCm39) P297Q unknown Het
Galnt13 A G 2: 54,770,149 (GRCm39) I314V probably benign Het
Gimap6 T A 6: 48,679,603 (GRCm39) K144N probably damaging Het
Gm10188 A T 1: 132,157,143 (GRCm39) C74* probably null Het
Gpatch2 C T 1: 186,965,325 (GRCm39) probably benign Het
Hace1 T A 10: 45,464,515 (GRCm39) M39K probably damaging Het
Has2 G T 15: 56,531,320 (GRCm39) T465K probably damaging Het
Ift140 A T 17: 25,306,898 (GRCm39) K878* probably null Het
Ikbip A G 10: 90,932,456 (GRCm39) N367D probably damaging Het
Immt T C 6: 71,821,700 (GRCm39) probably benign Het
Isca1 A G 13: 59,910,596 (GRCm39) V32A possibly damaging Het
Kcnu1 T A 8: 26,427,548 (GRCm39) N288K possibly damaging Het
Kmt2b C T 7: 30,268,936 (GRCm39) probably benign Het
Lrguk T A 6: 34,106,127 (GRCm39) D717E probably benign Het
Lrp1 C T 10: 127,417,647 (GRCm39) G1037E probably damaging Het
Man2a2 T A 7: 80,019,363 (GRCm39) Q37L possibly damaging Het
Msh4 C T 3: 153,583,545 (GRCm39) probably null Het
Mtf1 C T 4: 124,715,112 (GRCm39) R246W probably damaging Het
Mvb12b A G 2: 33,730,221 (GRCm39) S57P probably benign Het
Nat8f5 A G 6: 85,794,544 (GRCm39) F139L probably benign Het
Npepps A G 11: 97,128,985 (GRCm39) F400L probably damaging Het
Ntsr2 T A 12: 16,708,390 (GRCm39) S248T possibly damaging Het
Oplah G A 15: 76,185,155 (GRCm39) R853* probably null Het
Or5b98 T C 19: 12,931,138 (GRCm39) F62L probably benign Het
Or5p57 A T 7: 107,665,012 (GRCm39) M331K possibly damaging Het
Plekhh2 G A 17: 84,914,391 (GRCm39) probably null Het
Pskh1 G A 8: 106,656,388 (GRCm39) V355I probably benign Het
Rab31 A T 17: 66,024,547 (GRCm39) M44K possibly damaging Het
Slc5a4b A G 10: 75,910,849 (GRCm39) V329A probably damaging Het
Slc5a7 A G 17: 54,600,908 (GRCm39) Y76H probably damaging Het
Trappc14 T C 5: 138,261,432 (GRCm39) probably null Het
Treh A T 9: 44,594,246 (GRCm39) D164V possibly damaging Het
Trim6 A G 7: 103,881,847 (GRCm39) Y366C probably benign Het
Ubr7 T C 12: 102,734,479 (GRCm39) V251A probably benign Het
Vmn1r35 T A 6: 66,656,463 (GRCm39) N69I possibly damaging Het
Zan A G 5: 137,433,968 (GRCm39) L2255P unknown Het
Other mutations in Homer3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Homer3 APN 8 70,742,807 (GRCm39) missense probably damaging 0.96
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
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
Posted On 2015-04-16