Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01966:Homer3'

181549

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: 0.172) question?

Stock #

IGL01966

Quality Score

Status

Chromosome

Chromosomal Location

70282827-70294361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70290157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 173 (K173E)

Ref Sequence

ENSEMBL: ENSMUSP00000117033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003669] [ENSMUST00000008004] [ENSMUST00000087467] [ENSMUST00000110124] [ENSMUST00000140212]

AlphaFold

Q99JP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000003669
AA Change: K173E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: K173E

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:WH1	1	107	4.2e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110124
AA Change: K173E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: K173E

Domain	Start	End	E-Value	Type
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: ENSMUST00000135692

Predicted Effect

probably damaging
Transcript: ENSMUST00000140212
AA Change: K173E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: K173E

Domain	Start	End	E-Value	Type
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: ENSMUST00000144890

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	A	G	4: 155,734,069		probably null	Het
Acer2	T	A	4: 86,917,578	*230R	probably null	Het
Adamts12	A	G	15: 11,258,183	K527E	probably damaging	Het
Anks1b	C	A	10: 90,895,132	R937S	probably damaging	Het
C2cd5	G	T	6: 143,012,041	C989*	probably null	Het
Col14a1	A	G	15: 55,448,725		probably benign	Het
Cramp1l	T	A	17: 24,982,943	T522S	probably benign	Het
Cyp2c70	A	T	19: 40,153,572		probably benign	Het
Elmod1	T	A	9: 53,921,327	I224F	probably benign	Het
Emx2	T	A	19: 59,459,589	I24N	possibly damaging	Het
Fam26e	T	C	10: 34,096,133	H102R	probably benign	Het
Fga	A	T	3: 83,029,154	I86F	probably damaging	Het
Fig4	C	A	10: 41,232,102		probably null	Het
Gm10234	T	C	6: 95,322,137		probably null	Het
Gm12588	A	T	11: 121,906,735	I96N	probably benign	Het
Grm3	A	G	5: 9,511,486	I788T	probably damaging	Het
Kansl1l	A	G	1: 66,738,068	V635A	probably damaging	Het
Kctd3	C	T	1: 188,992,662	G241R	probably damaging	Het
Krt8	G	T	15: 101,997,670	S423R	probably benign	Het
Lrrc24	C	A	15: 76,718,311	A125S	probably benign	Het
Muc4	T	C	16: 32,751,426	S435P	possibly damaging	Het
Nfkb2	G	A	19: 46,309,690	G502D	probably benign	Het
Nlrp6	G	A	7: 140,925,190	C750Y	probably damaging	Het
Olfr904	A	T	9: 38,464,929	D296V	possibly damaging	Het
Oxsm	T	C	14: 16,242,520	N83S	probably benign	Het
Paqr3	A	G	5: 97,099,643	L202P	probably benign	Het
Pcdh10	T	A	3: 45,380,298	L349Q	probably benign	Het
Ptdss2	A	G	7: 141,135,391	T29A	possibly damaging	Het
Rbbp8nl	G	A	2: 180,280,989		probably benign	Het
Rc3h2	A	G	2: 37,382,777		probably benign	Het
Ric1	A	T	19: 29,595,563	Y801F	probably benign	Het
Sgcz	A	T	8: 37,640,015	S114R	probably damaging	Het
Tenm4	A	G	7: 96,553,550	D124G	probably damaging	Het
Zscan22	T	G	7: 12,906,471	M214R	probably benign	Het

Other mutations in Homer3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02493:Homer3	APN	8	70290071	missense	probably benign	0.00
IGL03134:Homer3	UTSW	8	70286335	missense	probably benign	0.00
R2436:Homer3	UTSW	8	70293056	missense	possibly damaging	0.91
R3508:Homer3	UTSW	8	70291355	missense	probably benign	0.06
R4391:Homer3	UTSW	8	70290143	splice site	probably null
R4392:Homer3	UTSW	8	70290143	splice site	probably null
R4395:Homer3	UTSW	8	70290143	splice site	probably null
R4396:Homer3	UTSW	8	70290143	splice site	probably null
R4397:Homer3	UTSW	8	70290143	splice site	probably null
R4401:Homer3	UTSW	8	70290143	splice site	probably null
R4402:Homer3	UTSW	8	70290143	splice site	probably null
R4445:Homer3	UTSW	8	70290143	splice site	probably null
R4446:Homer3	UTSW	8	70290143	splice site	probably null
R4482:Homer3	UTSW	8	70290143	splice site	probably null
R4488:Homer3	UTSW	8	70290143	splice site	probably null
R4489:Homer3	UTSW	8	70290143	splice site	probably null
R4664:Homer3	UTSW	8	70290143	splice site	probably null
R4666:Homer3	UTSW	8	70290143	splice site	probably null
R4751:Homer3	UTSW	8	70285434	missense	probably damaging	1.00
R5071:Homer3	UTSW	8	70291355	missense	probably benign
R5828:Homer3	UTSW	8	70286306	missense	probably benign	0.02
R6052:Homer3	UTSW	8	70291426	nonsense	probably null
R6211:Homer3	UTSW	8	70285524	missense	probably damaging	1.00
R6234:Homer3	UTSW	8	70291165	critical splice donor site	probably null
R6895:Homer3	UTSW	8	70285305	missense	probably damaging	0.99
R6914:Homer3	UTSW	8	70291551	missense	probably benign	0.00
R6942:Homer3	UTSW	8	70291551	missense	probably benign	0.00
R7300:Homer3	UTSW	8	70285303	start codon destroyed	probably null	0.23
R7391:Homer3	UTSW	8	70289484	missense	probably benign	0.00
R7553:Homer3	UTSW	8	70290124	missense	probably benign	0.02
R7555:Homer3	UTSW	8	70289413	missense	probably damaging	1.00
R7721:Homer3	UTSW	8	70291012	missense	probably benign	0.04

Posted On

2014-05-07